From 64338d636e6c9cab37b5eb5d41866ac7c96a47a1 Mon Sep 17 00:00:00 2001
From: hdashnow <3794821+hdashnow@users.noreply.github.com>
Date: Thu, 2 Jan 2025 03:58:51 +0000
Subject: [PATCH 1/6] [create-pull-request] automated change
---
data/STRchive-citations.json | 15967 +++++--------------------------
data/literature/AR01.txt | 4 +-
data/literature/ARX01.txt | 6 +-
data/literature/C9orf7201.txt | 2 +-
data/literature/DMPK01.txt | 35 +-
data/literature/FMR101.txt | 4 +-
data/literature/HTT01.txt | 2 +-
data/literature/LRP1201.txt | 19 +-
data/literature/RAI101.txt | 4 +-
data/literature/RFC101.txt | 2 +-
data/literature/new_loci01.txt | 185 +-
11 files changed, 2418 insertions(+), 13812 deletions(-)
diff --git a/data/STRchive-citations.json b/data/STRchive-citations.json
index 5b0747a8..1e383e7c 100644
--- a/data/STRchive-citations.json
+++ b/data/STRchive-citations.json
@@ -357,28 +357,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:15851746"
},
-{
- "id": "pmid:19227892",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/19227892",
- "title": "[Two brothers with very late onset of muscle weakness in X-linked recessive spinal and bulbar muscular atrophy].",
- "type": "article-journal",
- "doi": "10.5692/clinicalneurol.49.22",
- "authors": [
- ["Shoji", "Hemmi"],
- ["Ken", "Inoue"],
- ["Yumiko", "Kutoku"],
- ["Mitsue", "Rikimaru"],
- ["Tatufumi", "Murakami"],
- ["Yoshihide", "Sunada"]
- ],
- "publisher": "Rinsho shinkeigaku = Clinical neurology",
- "issn": "0009-918X",
- "date": "2009-01-01",
- "abstract": "Spinal and bulbar muscular atrophy (SBMA) is a motor neuron disease characterized by slowly progressive spinal and bulbar muscular atrophy associated with signs of androgen insensitivity including gynecomastia. This disease becomes prominent clinically in the fourth and fifth decades of life. Mutations of the androgen receptor (AR) gene associated with an expansion of CAG repeats is the cause of this disease. Here we report a unique family case in two brothers with SBMA with very late onset of muscular weakness. Motor functional symptoms in the two brothers developed at the ages of 66 and 78 years. The number of CAG repeats in the AR gene in both patients was 42. According to previous reports, the number of CAG repeats is related to the age at onset of muscular weakness. Our patient's conditions were consistent with this concept as there was a short expansion of 42 CAG repeats linked to the clinical phenotype of very late onset of muscular weakness. However, the issue of whether the number of CAG repeats is related to the age at onset of androgen insensitivity is still controversial. In the younger brother, gynecomastia appeared in his 20's and preceded the development of muscular weakness by about 40 years, whereas the gynecomastia in the older brother was unremarkable throughout his life. Our brother cases, which had the same number of CAG repeats and should share many common genetic factors, exhibited the androgen insensitivity differed. We therefore consider that an expansion of CAG repeats in the AR gene is not necessarily related to the age at onset of androgen insensitivity. In conclusion, the etiologies of muscular weakness and androgen insensitivity in SBMA could be different.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19227892"
-},
{
"id": "pmid:29398703",
"manubot_success": true,
@@ -2270,6 +2248,28 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22140091"
},
+{
+ "id": "pmid:39643839",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39643839",
+ "title": "Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy.",
+ "type": "article-journal",
+ "doi": "10.1007/s10072-024-07826-9",
+ "authors": [
+ ["Martina", "Rimoldi"],
+ ["Sabrina", "Lucchiari"],
+ ["Serena", "Pagliarani"],
+ ["Giovanni", "Meola"],
+ ["Giacomo Pietro", "Comi"],
+ ["Elena", "Abati"]
+ ],
+ "publisher": "Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology",
+ "issn": "1590-3478",
+ "date": "2024-12-07",
+ "abstract": "Myotonic dystrophies (DM) encompass a group of complex genetic disorders characterized by progressive muscle weakness with myotonia and multisystemic involvement. The aim of our paper is to synthesize key findings and advancements in the understanding of DM, and to underline the multidisciplinary approach to DM, emphasizing the importance of genetic counseling, comprehensive clinical care, and symptom management. We discuss the genetic basis of DM, emphasizing the role of repeat expansions in disease pathogenesis, as well as cellular and animal models utilized for studying DM mechanisms and testing potential therapies. Diagnostic challenges, such as determining the size of disease expansions and assessing mosaicism, are elucidated alongside emerging genetic testing methods. Therapeutic strategies, mainly for DM1, are also explored, encompassing small molecules, nucleic acid-based therapies (NATs), and genome/transcriptome engineering. The challenges of such a therapeutic delivery and immunogenic response and the importance of innovative strategies, including viral vectors and AAV serotypes, are highlighted within the text. While no curative treatments have been approved, supportive and palliative care remains essential, with a focus on addressing multisystemic complications and maintaining functional independence. Continued exploration of these therapeutic advancements offers hope for comprehensive disease management and potentially curative therapies for DM1 and related disorders.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39643839"
+},
{
"id": "pmid:35483324",
"manubot_success": true,
@@ -3033,6 +3033,32 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38937606"
},
+{
+ "id": "pmid:39604554",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39604554",
+ "title": "Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population.",
+ "type": "article-journal",
+ "doi": "10.1038/s41431-024-01743-3",
+ "authors": [
+ ["Toshiyuki", "Kakumoto"],
+ ["Kenta", "Orimo"],
+ ["Takashi", "Matsukawa"],
+ ["Jun", "Mitsui"],
+ ["Tomohiko", "Ishihara"],
+ ["Osamu", "Onodera"],
+ ["Yuta", "Suzuki"],
+ ["Shinichi", "Morishita"],
+ ["Tatsushi", "Toda"],
+ ["Shoji", "Tsuji"]
+ ],
+ "publisher": "European journal of human genetics : EJHG",
+ "issn": "1476-5438",
+ "date": "2024-11-27",
+ "abstract": "Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic nervous system dysfunction and cerebellar ataxia or parkinsonism. Recently, expanded GAA repeats (\u2265250 repeat units) in intron 1 of FGF14 have been shown to be responsible for spinocerebellar ataxia type 27B (SCA27B), a late-onset ataxia with an autosomal dominant inheritance. Patients with SCA27B may also exhibit autonomic nervous system dysfunction, potentially overlapping with the clinical presentations of MSA patients. In this study, to explore the possible involvement of expanded GAA repeats in MSA, we investigated the frequencies of expanded GAA repeats in FGF14 in 548 patients with MSA, 476 patients with undiagnosed ataxia, and 455 healthy individuals. To fully characterize the structures of the expanded GAA repeats, long-range PCR products suggesting the expansion of GAA repeats were further analyzed using a long-read sequencer. Of the 548 Japanese MSA patients, we identified one MSA patient (0.2%) carrying an expanded repeat with (GAA)",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39604554"
+},
{
"id": "pmid:36493768",
"manubot_success": true,
@@ -3806,6 +3832,33 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27940602"
},
+{
+ "id": "pmid:39572770",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39572770",
+ "title": "Huntingtin CAG repeat size variations below the Huntington's disease threshold: associations with depression, anxiety and basal ganglia structure.",
+ "type": "article-journal",
+ "doi": "10.1038/s41431-024-01737-1",
+ "authors": [
+ ["Magdalena", "Vater"],
+ ["Nicolas", "Rost"],
+ ["Gertrud", "Eckstein"],
+ ["Susann", "Sauer"],
+ ["Alina", "Tontsch"],
+ ["Angelika", "Erhardt"],
+ ["Susanne", "Lucae"],
+ ["Tanja", "Br\u00fcckl"],
+ ["Thomas", "Klopstock"],
+ ["Philipp G", "S\u00e4mann"],
+ ["Elisabeth B", "Binder"]
+ ],
+ "publisher": "European journal of human genetics : EJHG",
+ "issn": "1476-5438",
+ "date": "2024-11-21",
+ "abstract": "Huntington's disease (HD) is strongly associated with psychiatric symptoms, yet, associations between huntingtin gene (HTT) CAG repeat size variations and psychiatric phenotypes outside the HD complex are still under-investigated. In this genetic case-control study we compared the distribution of HTT CAG repeat sizes in predefined ranges between patients with major depressive disorder (MDD) (n\u2009=\u20092136) and anxiety disorders (ANX) (n\u2009=\u2009493), and healthy controls (CON) (n\u2009=\u20091566). We used regression models to study interactions between the alleles and associations with fine-granular clinical phenotypes and basal ganglia structure. HD mutations in the range of incomplete penetrance (36-39 repeats) were not overrepresented in patients. In participants older than 48 years, 13-20 repeats on both HTT alleles were associated with a reduced ANX risk whereas a 13-20\u00a0|\u00a021-26 combination was associated with an increased ANX risk. Post-hoc analyses confirmed a turning point around 21 repeats and trends in the same direction were detected for MDD. The joint patient\u00a0|\u00a0CON analysis of the full spectrum of allele combinations confirmed interaction effects and age-dependent allele\u00a0|\u00a0risk profiles. A short-by-long interaction effect and an age-dependent negative correlation of the short allele on the nucleus accumbens volume was detected, independently of the diagnostic group. In conclusion, we revealed that HTT CAG repeat sizes of both alleles in the non-HD range are associated with a risk modulation for common psychiatric disorders as well as basal ganglia structure differences in an age-dependent way, possibly implying that normal variation of the functionally diverse wildtype huntingtin protein may impact brain function.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39572770"
+},
{
"id": "pmid:19507258",
"manubot_success": true,
@@ -4962,37 +5015,9 @@
},
{
"id": "pmid:9462747",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/9462747",
- "title": "Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.",
- "type": "article-journal",
- "doi": "10.1038/ng0298-164",
- "authors": [
- ["B", "Brais"],
- ["J P", "Bouchard"],
- ["Y G", "Xie"],
- ["D L", "Rochefort"],
- ["N", "Chr\u00e9tien"],
- ["F M", "Tom\u00e9"],
- ["R G", "Lafreni\u00e8re"],
- ["J M", "Rommens"],
- ["E", "Uyama"],
- ["O", "Nohira"],
- ["S", "Blumen"],
- ["A D", "Korczyn"],
- ["P", "Heutink"],
- ["J", "Mathieu"],
- ["A", "Duranceau"],
- ["F", "Cod\u00e8re"],
- ["M", "Fardeau"],
- ["G A", "Rouleau"]
- ],
- "publisher": "Nature genetics",
- "issn": "1061-4036",
- "date": "1998-02-01",
- "abstract": "Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disease with a world-wide distribution. It usually presents in the sixth decade with progressive swallowing difficulties (dysphagia), eyelid drooping (ptosis) and proximal limb weakness. Unique nuclear filament inclusions in skeletal muscle fibres are its pathological hallmark. We isolated the poly(A) binding protein 2 gene (PABP2) from a 217-kb candidate interval on chromosome 14q11 (B.B. et al., manuscript submitted). A (GCG)6 repeat encoding a polyalanine tract located at the N terminus of the protein was expanded to (GCG)8-13 in the 144 OPMD families screened. More severe phenotypes were observed in compound heterozygotes for the (GCG)9 mutation and a (GCG)7 allele that is found in 2% of the population, whereas homozygosity for the (GCG)7 allele leads to autosomal recessive OPMD. Thus the (GCG)7 allele is an example of a polymorphism which can act either as a modifier of a dominant phenotype or as a recessive mutation. Pathological expansions of the polyalanine tract may cause mutated PABP2 oligomers to accumulate as filament inclusions in nuclei.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9462747"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/9462747",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:9462747']' timed out after 3 seconds"
},
{
"id": "pmid:15121777",
@@ -5664,6 +5689,30 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32851396"
},
+{
+ "id": "pmid:38627134",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/38627134",
+ "title": "RFC1: Motifs and phenotypes.",
+ "type": "article-journal",
+ "doi": "10.1016/j.neurol.2024.03.006",
+ "authors": [
+ ["V", "Delforge"],
+ ["C", "Tard"],
+ ["J-B", "Davion"],
+ ["K", "Dujardin"],
+ ["A", "Wissocq"],
+ ["C-M", "Dhaenens"],
+ ["E", "Mutez"],
+ ["V", "Huin"]
+ ],
+ "publisher": "Revue neurologique",
+ "issn": "0035-3787",
+ "date": "2024-04-15",
+ "abstract": "Biallelic intronic expansions (AAGGG)",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38627134"
+},
{
"id": "pmid:37450567",
"manubot_success": true,
@@ -6030,6 +6079,45 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29939203"
},
+{
+ "id": "pmid:39569876",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39569876",
+ "title": "(TTTCA)exp Drives the Genotype-Phenotype Correlation and Genetic Anticipation in FCMTE1.",
+ "type": "article-journal",
+ "doi": "10.1002/mds.30057",
+ "authors": [
+ ["Xinhui", "Chen"],
+ ["Bo", "Wang"],
+ ["Haibin", "Xia"],
+ ["Haotian", "Wang"],
+ ["Dehao", "Yang"],
+ ["Miao", "Chen"],
+ ["Huijun", "Yu"],
+ ["Fan", "Zhang"],
+ ["Yixin", "Kang"],
+ ["Yiling", "Chen"],
+ ["Nan", "Jin"],
+ ["Lebo", "Wang"],
+ ["Peng", "Liu"],
+ ["Fei", "Xie"],
+ ["Aisi", "Fu"],
+ ["Ben", "Hu"],
+ ["Zhiyuan", "Ouyang"],
+ ["Sheng", "Wu"],
+ ["Yao", "Ding"],
+ ["Junfeng", "Ji"],
+ ["Shuang", "Wang"],
+ ["Wei", "Luo"],
+ ["Zhidong", "Cen"]
+ ],
+ "publisher": "Movement disorders : official journal of the Movement Disorder Society",
+ "issn": "1531-8257",
+ "date": "2024-11-21",
+ "abstract": "The pentanucleotide (TTTCA) repeat expansion (exp) insertion, along with the accompanying (TTTTA)exp, causes familial cortical myoclonic tremor with epilepsy (FCMTE). The genotype-phenotype correlations and intergenerational instabilities related to (TTTCA)exp and (TTTTA)exp are still unclear.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39569876"
+},
{
"id": "pmid:19654509",
"manubot_success": true,
@@ -6682,6 +6770,31 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24677642"
},
+{
+ "id": "pmid:39651830",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39651830",
+ "title": "A Population-Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank.",
+ "type": "article-journal",
+ "doi": "10.1002/mds.30073",
+ "authors": [
+ ["Chris", "Clarkson"],
+ ["Zhongbo", "Chen"],
+ ["Clarissa", "Rocca"],
+ ["Bharati", "Jadhav"],
+ ["Kristina", "Iba\u00f1ez"],
+ ["Mina", "Ryten"],
+ ["Andrew J", "Sharp"],
+ ["Henry", "Houlden"],
+ ["Arianna", "Tucci"]
+ ],
+ "publisher": "Movement disorders : official journal of the Movement Disorder Society",
+ "issn": "1531-8257",
+ "date": "2024-12-09",
+ "abstract": "A CAG repeat expansion in THAP11 was recently found to be associated with spinocerebellar ataxia in two Chinese families. Expanded repeats ranged from 45 to 100\u2009units, with CAA sequence interruptions in the 5' region and an uninterrupted CAG tract in the 3' tail.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39651830"
+},
{
"id": "pmid:33559681",
"manubot_success": true,
@@ -6974,6 +7087,46 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38197134"
},
+{
+ "id": "pmid:39635987",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39635987",
+ "title": "The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder.",
+ "type": "article-journal",
+ "doi": "10.1002/mds.30077",
+ "authors": [
+ ["Zhongbo", "Chen"],
+ ["Pilar", "Alvarez Jerez"],
+ ["Claire", "Anderson"],
+ ["Martin", "Paucar"],
+ ["Jasmaine", "Lee"],
+ ["Daniel", "Nilsson"],
+ ["Hannah", "Macpherson"],
+ ["Annarita", "Scardamaglia"],
+ ["Kylie", "Montgomery"],
+ ["John", "Hardy"],
+ ["Andrew B", "Singleton"],
+ ["Arianna", "Tucci"],
+ ["Katherine D", "Mathews"],
+ ["Ying-Hui", "Fu"],
+ ["Martin", "Engvall"],
+ ["Jos\u00e9", "Laffita-Mesa"],
+ ["Inger", "Nennesmo"],
+ ["Anna", "Wedell"],
+ ["Louis J", "Pt\u00e1\u010dek"],
+ ["Cornelis", "Blauwendraat"],
+ ["Emil K", "Gustavsson"],
+ ["Per", "Svenningsson"],
+ ["Mina", "Ryten"],
+ ["Henry", "Houlden"]
+ ],
+ "publisher": "Movement disorders : official journal of the Movement Disorder Society",
+ "issn": "1531-8257",
+ "date": "2024-12-05",
+ "abstract": "The identification of a heterozygous exonic GGC repeat expansion in ZFHX3 underlying spinocerebellar ataxia type 4 (SCA4) has solved a 25-year diagnostic conundrum. We used adaptive long-read sequencing to decipher the pathogenic expansion in the index Utah family and an unrelated family from Iowa of Swedish ancestry. Contemporaneous to our discovery, other groups identified the same repeat expansion in affected individuals from Utah, Sweden, and Germany, highlighting the current pivotal time for detection of novel repeat expansion disorders.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39635987"
+},
{
"id": "pmid:19177455",
"manubot_success": true,
@@ -7928,6 +8081,68 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39313615"
},
+{
+ "id": "pmid:39729861",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39729861",
+ "title": "Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi007-A) from a patient with Kennedy disease.",
+ "type": "article-journal",
+ "doi": "10.1016/j.scr.2024.103638",
+ "authors": [
+ ["Bo", "Li"],
+ ["Yitong", "Yang"],
+ ["Yingxin", "Wang"],
+ ["Didi", "Shan"],
+ ["Jianing", "Li"],
+ ["Hongxu", "Wang"],
+ ["Xiaohan", "Sun"],
+ ["Yao", "Tang"],
+ ["Yichang", "Jiao"],
+ ["Xinbo", "Ji"],
+ ["Zexin", "Zhan"],
+ ["Bo", "Kong"],
+ ["Bo", "Gao"],
+ ["Yu", "Wang"],
+ ["Ping", "Sun"],
+ ["Fuchen", "Liu"]
+ ],
+ "publisher": "Stem cell research",
+ "issn": "1876-7753",
+ "date": "2024-12-25",
+ "abstract": "Abnormal trinucleotide CAG repeat expansions in exon 1 of the Androgen Receptor (AR) gene has been identified as the cause of Kennedy disease (KD). We generated and characterized a human induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMC) of a patient with genetically confirmed KD. The pluripotency of these iPSCs was verified by the expression of several pluripotency markers at both RNA and protein levels, as well as their capability to differentiate into all three germ layers.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39729861"
+},
+{
+ "id": "pmid:39694906",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39694906",
+ "title": "Enhancing Aesthetics in Bilateral DIEP Flap Breast Reconstruction: the Role of Tissue Pre-Expansion.",
+ "type": "article-journal",
+ "doi": "10.1007/s00266-024-04610-0",
+ "authors": [
+ ["Robert Jonathan", "Musmann"],
+ ["Christoph", "Andree"],
+ ["Andreas", "Wolter"],
+ ["Mazen", "Hagouan"],
+ ["Beatrix", "Munder"],
+ ["Dirk", "Janku"],
+ ["Marc", "Daniels"],
+ ["Kristin", "Becker"],
+ ["Alan", "Oramary"],
+ ["Julia", "Bukowiecki"],
+ ["Annabelle", "Bromba"],
+ ["Nora", "Stockhausen"],
+ ["Katrin", "Seidenst\u00fccker"],
+ ["Sonia", "Fertsch"]
+ ],
+ "publisher": "Aesthetic plastic surgery",
+ "issn": "1432-5241",
+ "date": "2024-12-18",
+ "abstract": "Achieving symmetrical outcomes in bilateral autologous breast reconstruction is challenging, particularly in cases of asymmetrical recipient sites. Tissue pre-expansion is proposed to improve aesthetics by enlarging the skin envelope for refined breast shaping. This study examines its efficacy in bilateral DIEP flap reconstructions.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39694906"
+},
{
"id": "pmid:39570490",
"manubot_success": true,
@@ -7953,32 +8168,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39570490"
},
-{
- "id": "pmid:39281780",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39281780",
- "title": "Expansion of a Novel Subset of L-Selectin",
- "type": "article-journal",
- "doi": "10.2147/jir.s468472",
- "authors": [
- ["Yihua", "Jin"],
- ["Zhimin", "Geng"],
- ["Kun", "Lin"],
- ["Xinyu", "Gu"],
- ["Xiwei", "Feng"],
- ["Songling", "Fu"],
- ["Wei", "Wang"],
- ["Chunhong", "Xie"],
- ["Yujia", "Wang"],
- ["Fangqi", "Gong"]
- ],
- "publisher": "Journal of inflammation research",
- "issn": "1178-7031",
- "date": "2024-09-09",
- "abstract": "Kawasaki disease (KD) is an acute systemic vasculitis that is associated with dysregulated immune responses. Monocytes play a central role in innate immunity. Our previous single-cell RNA sequencing of peripheral blood mononuclear cells (PBMC) revealed a new subset of monocytes in children with KD called L-Selectin",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39281780"
-},
{
"id": "pmid:39189540",
"manubot_success": true,
@@ -8293,61 +8482,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37715620"
},
-{
- "id": "pmid:37578398",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37578398",
- "title": "Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohort.",
- "type": "article-journal",
- "doi": "10.1111/imj.16205",
- "authors": [
- ["Dipti", "Baskar"],
- ["Preethish", "Veeramani-Kumar"],
- ["Kiran", "Polavarapu"],
- ["Saraswati", "Nashi"],
- ["Seena", "Vengalil"],
- ["Deepak", "Menon"],
- ["Aneesha", "Thomas"],
- ["Sai", "Bhargava Sanka"],
- ["Keerthipriya", "Muddasu Suhasini"],
- ["Akshata", "Huddar"],
- ["Gopikrishnan", "Unnikrishnan"],
- ["Mainak", "Bardhan"],
- ["Priya Treesa", "Thomas"],
- ["Nisha", "Manjunath"],
- ["Nalini", "Atchayaram"]
- ],
- "publisher": "Internal medicine journal",
- "issn": "1445-5994",
- "date": "2023-08-14",
- "abstract": "Kennedy disease (KD) is a slowly progressive lower motor neuron degenerative disease. The prevalence of KD is unknown in India.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37578398"
-},
-{
- "id": "pmid:37547453",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37547453",
- "title": "Structural and molecular insight into antibody recognition of dynamic neoepitopes in membrane tethered MUC1 of pancreatic cancer cells and secreted exosomes.",
- "type": "article-journal",
- "doi": "10.1039/d3cb00036b",
- "authors": [
- ["Hajime", "Wakui"],
- ["Yasuhiro", "Yokoi"],
- ["Chieko", "Horidome"],
- ["Toyoyuki", "Ose"],
- ["Min", "Yao"],
- ["Yoshikazu", "Tanaka"],
- ["Hiroshi", "Hinou"],
- ["Shin-Ichiro", "Nishimura"]
- ],
- "publisher": "RSC chemical biology",
- "issn": "2633-0679",
- "date": "2023-05-24",
- "abstract": "Pancreatic cancer is highly metastatic and has poor prognosis, mainly due to delayed detection, often after metastasis has occurred. A novel method to enable early detection and disease intervention is strongly needed. Here we unveil for the first time that pancreatic cancer cells (PANC-1) and secreted exosomes express MUC1 bearing cancer-relevant dynamic epitopes recognized specifically by an anti-MUC1 antibody (SN-131), which binds specifically core 1 but not core 2 type",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37547453"
-},
{
"id": "pmid:37422780",
"manubot_success": true,
@@ -8440,29 +8574,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36988133"
},
-{
- "id": "pmid:36764521",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36764521",
- "title": "The mTORC2/AKT/VCP axis is associated with quality control of the stalled translation of poly(GR) dipeptide repeats in C9-ALS/FTD.",
- "type": "article-journal",
- "doi": "10.1016/j.jbc.2023.102995",
- "authors": [
- ["Yu", "Li"],
- ["Ji", "Geng"],
- ["Suman", "Rimal"],
- ["Haochuan", "Wang"],
- ["Xiangguo", "Liu"],
- ["Bingwei", "Lu"],
- ["Shuangxi", "Li"]
- ],
- "publisher": "The Journal of biological chemistry",
- "issn": "1083-351X",
- "date": "2023-02-09",
- "abstract": "Expansion of G4C2 hexanucleotide repeats in the chromosome 9 ORF 72 (C9ORF72) gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (C9-ALS/FTD). Dipeptide repeats generated by unconventional translation, especially the R-containing poly(GR), have been implicated in\u00a0C9-ALS/FTD pathogenesis. Mutations in other genes, including TAR DNA-binding protein 43 KD (TDP-43), fused in sarcoma (FUS), and valosin-containing protein, have also been linked to ALS/FTD, and upregulation of amyloid precursor protein (APP) is observed at the early stage of ALS and FTD. Fundamental questions remain as to the relationships between these ALS/FTD genes and whether they converge on similar cellular pathways. Here, using biochemical, cell biological, and genetic analyses in Drosophila disease models, patient-derived fibroblasts, and mammalian cell culture, we show that mechanistic target of rapamycin complex 2 (mTORC2)/AKT signaling is activated by APP, TDP-43, and FUS and that mTORC2/AKT and its downstream target valosin-containing protein mediate the effect of APP, TDP-43, and FUS on the quality control of C9-ALS/FTD-associated poly(GR) translation. We also find that poly(GR) expression results in reduction of global translation and that the coexpression of APP, TDP-43, and FUS results in further reduction of global translation, presumably through the GCN2/eIF2\u03b1-integrated stress response pathway. Together, our results implicate mTORC2/AKT signaling and GCN2/eIF2\u03b1-integrated stress response as common signaling pathways underlying ALS/FTD pathogenesis.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36764521"
-},
{
"id": "pmid:36717478",
"manubot_success": true,
@@ -8599,23 +8710,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36585400"
},
-{
- "id": "pmid:36211961",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36211961",
- "title": "Engineering recombinantly expressed lectin-based antiviral agents.",
- "type": "article-journal",
- "doi": "10.3389/fcimb.2022.990875",
- "authors": [
- ["Irene", "Maier"]
- ],
- "publisher": "Frontiers in cellular and infection microbiology",
- "issn": "2235-2988",
- "date": "2022-09-23",
- "abstract": "Cyanovirin-N (CV-N), a lectin from",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36211961"
-},
{
"id": "pmid:36142533",
"manubot_success": true,
@@ -8838,26 +8932,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35571498"
},
-{
- "id": "pmid:35303530",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35303530",
- "title": "Clonal expansion and markers of directed mutation of IGHV4-34 B cells in plasmablasts during Kawasaki disease.",
- "type": "article-journal",
- "doi": "10.1016/j.molimm.2022.03.011",
- "authors": [
- ["Arthur J", "Chang"],
- ["Sarah", "Baron"],
- ["Jonathon", "Hoffman"],
- ["Mark D", "Hicar"]
- ],
- "publisher": "Molecular immunology",
- "issn": "1872-9142",
- "date": "2022-03-15",
- "abstract": "Kawasaki disease (KD) is the leading cause of acquired heart disease in children. The cause remains unknown; however, epidemiologic and demographic data support a single preceding infectious agent may lead to KD. A variety of pathophysiologic responses have been proposed, including direct invasion of the coronary arteries, a superantigen response, and a post-infectious autoimmune phenomenon. A role for B cell responses during KD are supported by numerous findings including B cell specific markers identified in genome wide association studies. We have recently published data showing children with KD have similar plasmablast (PB) responses to children with infections. Since during other infections, cells expressing antibodies against the preceding infection are enriched in PBs, we sought to explore the specific antibodies encoded by PBs during KD. In one child we see a massive expansion in IGHV4-34 utilizing antibodies, which has been associated with autoimmunity in the past. We further explored this expansion of IGHV4-34 utilization during the peripheral PB rise with next generation sequencing (NGS) analysis and utilizing newer techniques of chromium chip single cell separation (10x Genomics\u00ae). We also utilized peptide array screening to attempt to identify an antigen to the most prolific clones.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35303530"
-},
{
"id": "pmid:35237894",
"manubot_success": true,
@@ -9134,72 +9208,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34372915"
},
-{
- "id": "pmid:34035116",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34035116",
- "title": "Polyclonal expansion of TCR Vbeta 21.3",
- "type": "article-journal",
- "doi": "10.1126/sciimmunol.abh1516",
- "authors": [
- ["Marion", "Moreews"],
- ["Kenz", "Le Gouge"],
- ["Samira", "Khaldi-Plassart"],
- ["R\u00e9mi", "Pescarmona"],
- ["Anne-Laure", "Mathieu"],
- ["Christophe", "Malcus"],
- ["Sophia", "Djebali"],
- ["Alicia", "Bellomo"],
- ["Olivier", "Dauwalder"],
- ["Magali", "Perret"],
- ["Marine", "Villard"],
- ["Emilie", "Chopin"],
- ["Isabelle", "Rouvet"],
- ["Francois", "Vandenesh"],
- ["C\u00e9line", "Dupieux"],
- ["Robin", "Pouyau"],
- ["Sonia", "Teyssedre"],
- ["Margaux", "Guerder"],
- ["Tiphaine", "Louazon"],
- ["Anne", "Moulin-Zinsch"],
- ["Marie", "Duperril"],
- ["Hugues", "Patural"],
- ["Lisa", "Giovannini-Chami"],
- ["Aur\u00e9lie", "Portefaix"],
- ["Behrouz", "Kassai"],
- ["Fabienne", "Venet"],
- ["Guillaume", "Monneret"],
- ["Christine", "Lombard"],
- ["Hugues", "Flodrops"],
- ["Jean-Marie", "De Guillebon"],
- ["Fanny", "Bajolle"],
- ["Val\u00e9rie", "Launay"],
- ["Paul", "Bastard"],
- ["Shen-Ying", "Zhang"],
- ["Val\u00e9rie", "Dubois"],
- ["Olivier", "Thaunat"],
- ["Jean-Christophe", "Richard"],
- ["Mehdi", "Mezidi"],
- ["Omran", "Allatif"],
- ["Kahina", "Saker"],
- ["Marl\u00e8ne", "Dreux"],
- ["Laurent", "Abel"],
- ["Jean-Laurent", "Casanova"],
- ["Jacqueline", "Marvel"],
- ["Sophie", "Trouillet-Assant"],
- ["David", "Klatzmann"],
- ["Thierry", "Walzer"],
- ["Encarnita", "Mariotti-Ferrandiz"],
- ["Etienne", "Javouhey"],
- ["Alexandre", "Belot"]
- ],
- "publisher": "Science immunology",
- "issn": "2470-9468",
- "date": "2021-05-25",
- "abstract": "Multiple Inflammatory Syndrome in Children (MIS-C) is a delayed and severe complication of SARS-CoV-2 infection that strikes previously healthy children. As MIS-C combines clinical features of Kawasaki disease and Toxic Shock Syndrome (TSS), we aimed to compare the immunological profile of pediatric patients with these different conditions. We analyzed blood cytokine expression, and the T cell repertoire and phenotype in 36 MIS-C cases, which were compared to 16 KD, 58 TSS, and 42 COVID-19 cases. We observed an increase of serum inflammatory cytokines (IL-6, IL-10, IL-18, TNF-\u03b1, IFN\u03b3, CD25s, MCP1, IL-1RA) in MIS-C, TSS and KD, contrasting with low expression of HLA-DR in monocytes. We detected a specific expansion of activated T cells expressing the V\u03b221.3 T cell receptor \u03b2 chain variable region in both CD4 and CD8 subsets in 75% of MIS-C patients and not in any patient with TSS, KD, or acute COVID-19; this correlated with the cytokine storm detected. The T cell repertoire returned to baseline within weeks after MIS-C resolution. V\u03b221.3+ T cells from MIS-C patients expressed high levels of HLA-DR, CD38 and CX3CR1 but had weak responses to SARS-CoV-2 peptides in vitro",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34035116"
-},
{
"id": "pmid:34006154",
"manubot_success": true,
@@ -9402,35 +9410,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32989102"
},
-{
- "id": "pmid:32949047",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/32949047",
- "title": "Necrosome-positive granulovacuolar degeneration is associated with TDP-43 pathological lesions in the hippocampus of ALS/FTLD cases.",
- "type": "article-journal",
- "doi": "10.1111/nan.12668",
- "authors": [
- ["E", "Van Schoor"],
- ["M J", "Koper"],
- ["S", "Ospitalieri"],
- ["L", "Dedeene"],
- ["S O", "Tom\u00e9"],
- ["R", "Vandenberghe"],
- ["D", "Brenner"],
- ["M", "Otto"],
- ["J", "Weishaupt"],
- ["A C", "Ludolph"],
- ["P", "Van Damme"],
- ["L", "Van Den Bosch"],
- ["D R", "Thal"]
- ],
- "publisher": "Neuropathology and applied neurobiology",
- "issn": "1365-2990",
- "date": "2020-10-20",
- "abstract": "Granulovacuolar degeneration (GVD) in Alzheimer's disease (AD) involves the necrosome, which is a protein complex consisting of phosphorylated receptor-interacting protein kinase 1 (pRIPK1), pRIPK3 and phosphorylated mixed lineage kinase domain-like protein (pMLKL). Necrosome-positive GVD was associated with neuron loss in AD. GVD was recently linked to the C9ORF72 mutation in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with transactive response DNA-binding protein (TDP-43) pathology (FTLD-TDP). Therefore, we investigated whether GVD in cases of the ALS-FTLD-TDP spectrum (ALS/FTLD) shows a similar involvement of the necrosome as in AD, and whether it correlates with diagnosis, presence of protein aggregates and cell death in ALS/FTLD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32949047"
-},
{
"id": "pmid:32856855",
"manubot_success": true,
@@ -10112,31 +10091,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30156032"
},
-{
- "id": "pmid:30150298",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30150298",
- "title": "The",
- "type": "article-journal",
- "doi": "10.1128/mcb.00155-18",
- "authors": [
- ["Vitalay", "Fomin"],
- ["Patricia", "Richard"],
- ["Mainul", "Hoque"],
- ["Cynthia", "Li"],
- ["Zhuoying", "Gu"],
- ["Mercedes", "Fissore-O'Leary"],
- ["Bin", "Tian"],
- ["Carol", "Prives"],
- ["James L", "Manley"]
- ],
- "publisher": "Molecular and cellular biology",
- "issn": "1098-5549",
- "date": "2018-10-29",
- "abstract": "A GGGGCC repeat expansion in the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30150298"
-},
{
"id": "pmid:30139231",
"manubot_success": true,
@@ -10187,53 +10141,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30120431"
},
-{
- "id": "pmid:30065315",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30065315",
- "title": "Suppression of m",
- "type": "article-journal",
- "doi": "10.1038/s41422-018-0072-0",
- "authors": [
- ["Zhenrui", "Li"],
- ["Pengxu", "Qian"],
- ["Wanqing", "Shao"],
- ["Hailing", "Shi"],
- ["Xi C", "He"],
- ["Madelaine", "Gogol"],
- ["Zulin", "Yu"],
- ["Yongfu", "Wang"],
- ["Meijie", "Qi"],
- ["Yunfei", "Zhu"],
- ["John M", "Perry"],
- ["Kai", "Zhang"],
- ["Fang", "Tao"],
- ["Kun", "Zhou"],
- ["Deqing", "Hu"],
- ["Yingli", "Han"],
- ["Chongbei", "Zhao"],
- ["Richard", "Alexander"],
- ["Hanzhang", "Xu"],
- ["Shiyuan", "Chen"],
- ["Allison", "Peak"],
- ["Kathyrn", "Hall"],
- ["Michael", "Peterson"],
- ["Anoja", "Perera"],
- ["Jeffrey S", "Haug"],
- ["Tari", "Parmely"],
- ["Hua", "Li"],
- ["Bin", "Shen"],
- ["Julia", "Zeitlinger"],
- ["Chuan", "He"],
- ["Linheng", "Li"]
- ],
- "publisher": "Cell research",
- "issn": "1748-7838",
- "date": "2018-07-31",
- "abstract": "Transplantation of hematopoietic stem cells (HSCs) from human umbilical cord blood (hUCB) holds great promise for treating a broad spectrum of hematological disorders including cancer. However, the limited number of HSCs in a single hUCB unit restricts its widespread use. Although extensive efforts have led to multiple methods for ex vivo expansion of human HSCs by targeting single molecules or pathways, it remains unknown whether it is possible to simultaneously manipulate the large number of targets essential for stem cell self-renewal. Recent studies indicate that N",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30065315"
-},
{
"id": "pmid:30043577",
"manubot_success": true,
@@ -10594,24 +10501,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29249939"
},
-{
- "id": "pmid:29186613",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29186613",
- "title": "Biochemical and structural characterization of a novel cooperative binding mode by Pit-1 with CATT repeats in the macrophage migration inhibitory factor promoter.",
- "type": "article-journal",
- "doi": "10.1093/nar/gkx1183",
- "authors": [
- ["Sorabh", "Agarwal"],
- ["Thomas Yoonsang", "Cho"]
- ],
- "publisher": "Nucleic acids research",
- "issn": "1362-4962",
- "date": "2018-01-25",
- "abstract": "Overexpression of the proinflammatory cytokine macrophage migration inhibitory factor (MIF) is linked to a number of autoimmune diseases and cancer. MIF production has been correlated to the number of CATT repeats in a microsatellite region upstream of the MIF gene. We have characterized the interaction of pituitary-specific positive transcription factor 1 (Pit-1) with a portion of the MIF promoter region flanking a microsatellite polymorphism (-794 CATT5-8). Using fluorescence anisotropy, we quantified tight complex formation between Pit-1 and an oligonucleotide consisting of eight consecutive CATT repeats (8xCATT) with an apparent Kd of 35 nM. Using competition experiments we found a 23 base pair oligonucleotide with 4xCATT repeats to be the minimum DNA sequence necessary for high affinity interaction with Pit-1. The stoichiometry of the Pit-1 DNA interaction was determined to be 2:1 and binding is cooperative in nature. We subsequently structurally characterized the complex and discovered a completely novel binding mode for Pit-1 in contrast to previously described Pit-1 complex structures. The affinity of Pit-1 for the CATT target sequence was found to be highly dependent on cooperativity. This work lays the groundwork for understanding transcriptional regulation of MIF and pursuing Pit-1 as a therapeutic target to treat MIF-mediated inflammatory disorders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29186613"
-},
{
"id": "pmid:29044734",
"manubot_success": true,
@@ -10764,30 +10653,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28511915"
},
-{
- "id": "pmid:28489755",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/28489755",
- "title": "Kennedy disease with difficulty in differential diagnosis: A case report.",
- "type": "article-journal",
- "doi": "10.1097/md.0000000000006792",
- "authors": [
- ["Yating", "Chen"],
- ["Peng", "Luo"],
- ["Zhongli", "Li"],
- ["Hengping", "Hu"],
- ["Duobin", "Wu"],
- ["Tingting", "Xu"],
- ["Xingzuo", "Wang"],
- ["Haiting", "Xie"]
- ],
- "publisher": "Medicine",
- "issn": "1536-5964",
- "date": "2017-05-01",
- "abstract": "Kennedy disease (KD) is also known as spinal bulbar muscular dystrophy. As KD has similar symptoms with most neuromuscular diseases, so it is difficult to make a rapid diagnosis clinically.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28489755"
-},
{
"id": "pmid:28367605",
"manubot_success": true,
@@ -10840,24 +10705,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28295444"
},
-{
- "id": "pmid:28270748",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/28270748",
- "title": "Huntingtin Is Required for Neural But Not Cardiac/Pancreatic Progenitor Differentiation of Mouse Embryonic Stem Cells",
- "type": "article-journal",
- "doi": "10.3389/fncel.2017.00033",
- "authors": [
- ["Man Shan", "Yu"],
- ["Naoko", "Tanese"]
- ],
- "publisher": "Frontiers in cellular neuroscience",
- "issn": "1662-5102",
- "date": "2017-02-21",
- "abstract": "Mutation in the huntingtin (",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28270748"
-},
{
"id": "pmid:27873769",
"manubot_success": true,
@@ -11138,37 +10985,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26772404"
},
-{
- "id": "pmid:26692014",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/26692014",
- "title": "Molecular basis of antibody binding to mucin glycopeptides in lung cancer.",
- "type": "article-journal",
- "doi": "10.3892/ijo.2015.3302",
- "authors": [
- ["Jin", "Qu"],
- ["Hongtao", "Yu"],
- ["Fenge", "Li"],
- ["Chunlei", "Zhang"],
- ["Ahmad", "Trad"],
- ["Cory", "Brooks"],
- ["Bin", "Zhang"],
- ["Ting", "Gong"],
- ["Zhi", "Guo"],
- ["Yunsen", "Li"],
- ["Govind", "Ragupathi"],
- ["Yanyan", "Lou"],
- ["Patrick", "Hwu"],
- ["Wei", "Huang"],
- ["Dapeng", "Zhou"]
- ],
- "publisher": "International journal of oncology",
- "issn": "1791-2423",
- "date": "2015-12-18",
- "abstract": "Glycopeptides bearing Tn epitopes are emerging targets for cancer diagnosis and immunotherapy. In this study, we analyzed membrane proteins containing O-glycosylated tandem repeat (TR) sequences in lung cancer patients of different types and stages, using gene microarray data in public domain. The expression of Tn and glycopeptide epitopes on the surface of lung cancer cell lines were studied by monoclonal IgG antibodies 14A, 16A, and B72.3. The binding of mAbs to synthetic glycopeptides were studied by surface plasmon resonance. Nine mucin mRNAs were found to be expressed in lung cancer patients but at similar level to healthy individuals. At protein level, a glycopeptide epitope on cancer cell surface is preferably recognized by mAb 16A, as compared to peptide-alone (14A) or sugar-alone epitopes (B72.3). 14A and 16A favor clustered TR containing more than three TR sequences, with 10-fold lower Kd than two consecutive TR. B72.3 preferrably recognized clustered sialyl-Tn displayed on MUC1 but not other O-glycoproteins, with 100-fold stronger binding when MUC1 is transfected as a sugar carrier, while the total sugar epitopes remain unchanged. These findings indicate that clusters of both TR backbones and sugars are essential for mAb binding to mucin glycopeptides. Three rules of antibody binding to mucin glycopeptides at molecular level are presented here: first, the peptide backbone of a glycopeptide is preferentially recognized by B cells through mutations in complementarity determining regions (CDRs) of B cell receptor, and the sugar-binding specificity is acquired through mutations in frame work of heavy chain; secondly, consecutive tandem repeats (TR) of peptides and glycopeptides are preferentially recognized by B cells, which favor clustered TR containing more than three TR sequences; thirdly, certain sugar-specific B cells recognize and accommodate clustered Tn and sialyl-Tn displayed on the surface of a mucin but not other membrane proteins.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26692014"
-},
{
"id": "pmid:26691666",
"manubot_success": true,
@@ -11194,27 +11010,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26691666"
},
-{
- "id": "pmid:26574279",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/26574279",
- "title": "Molecular view of ligands specificity for CAG repeats in anti-Huntington therapy.",
- "type": "article-journal",
- "doi": "10.1021/acs.jctc.5b00208",
- "authors": [
- ["Anna", "Bochicchio"],
- ["Giulia", "Rossetti"],
- ["Oriana", "Tabarrini"],
- ["Sybille", "Krau\u03b2"],
- ["Paolo", "Carloni"]
- ],
- "publisher": "Journal of chemical theory and computation",
- "issn": "1549-9626",
- "date": "2015-09-10",
- "abstract": "Huntington's disease is a fatal and devastating neurodegenerative genetic disorder for which there is currently no cure. It is characterized by Huntingtin protein's mRNA transcripts with 36 or more CAG repeats. Inhibiting the formation of pathological complexes between these expanded transcripts and target proteins may be a valuable strategy against the disease. Yet, the rational design of molecules specifically targeting the expanded CAG repeats is limited by the lack of structural information. Here, we use well-tempered metadynamics-based free energy calculations to investigate pose and affinity of two ligands targeting CAG repeats for which affinities have been previously measured. The first consists of two 4-guanidinophenyl rings linked by an ester group. It is the most potent ligand identified so far, with Kd = 60(30) nM. The second consists of a 4-phenyl dihydroimidazole and 4-1H-indole dihydroimidazole connected by a C-C bond (Kd = 700(80) nM). Our calculations reproduce the experimental affinities and uncover the recognition pattern between ligands' and their RNA target. They also provide a molecular basis for the markedly different affinity of the two ligands for CAG repeats as observed experimentally. These findings may pave the way for a structure-based hit-to-lead optimization to further improve ligand selectivity toward CAG repeat-containing mRNAs.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26574279"
-},
{
"id": "pmid:26541420",
"manubot_success": true,
@@ -11461,37 +11256,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26221130"
},
-{
- "id": "pmid:26125554",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/26125554",
- "title": "HLA-B27-Homodimer-Specific Antibody Modulates the Expansion of Pro-Inflammatory T-Cells in HLA-B27 Transgenic Rats.",
- "type": "article-journal",
- "doi": "10.1371/journal.pone.0130811",
- "authors": [
- ["Osiris", "Marroquin Belaunzaran"],
- ["Sascha", "Kleber"],
- ["Stefan", "Schauer"],
- ["Martin", "Hausmann"],
- ["Flora", "Nicholls"],
- ["Maries", "Van den Broek"],
- ["Sravan", "Payeli"],
- ["Adrian", "Ciurea"],
- ["Simon", "Milling"],
- ["Frank", "Stenner"],
- ["Jackie", "Shaw"],
- ["Simon", "Kollnberger"],
- ["Paul", "Bowness"],
- ["Ulf", "Petrausch"],
- ["Christoph", "Renner"]
- ],
- "publisher": "PloS one",
- "issn": "1932-6203",
- "date": "2015-06-30",
- "abstract": "HLA-B27 is a common genetic risk factor for the development of Spondyloarthritides (SpA). HLA-B27 can misfold to form cell-surface heavy chain homodimers (B272) and induce pro-inflammatory responses that may lead to SpA pathogenesis. The presence of B272 can be detected on leukocytes of HLA-B27+ Ankylosing spondylitis (AS) patients and HLA-B27 transgenic rats. We characterized a novel B272-specific monoclonal antibody to study its therapeutic use in HLA-B27 associated disorders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26125554"
-},
{
"id": "pmid:26043854",
"manubot_success": true,
@@ -12426,32 +12190,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24116069"
},
-{
- "id": "pmid:24080172",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/24080172",
- "title": "Familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma.",
- "type": "article-journal",
- "doi": "10.1016/j.neurobiolaging.2013.08.021",
- "authors": [
- ["Raffaele", "Ferrari"],
- ["Mia", "Kero"],
- ["Kin", "Mok"],
- ["Anders", "Paetau"],
- ["Pentti J", "Tienari"],
- ["Olli", "Tynninen"],
- ["John", "Hardy"],
- ["Parastoo", "Momeni"],
- ["Auli", "Verkkoniemi-Ahola"],
- ["Liisa", "Myllykangas"]
- ],
- "publisher": "Neurobiology of aging",
- "issn": "1558-1497",
- "date": "2013-09-27",
- "abstract": "A hexanucleotide repeat expansion in the chromosome 9 open reading frame 72 gene (C9orf72) was recently identified as the most common genetic cause of frontotemporal dementia/amyotrophic lateral sclerosis. Here we describe the clinical, pathologic, and genetic features of a Finnish C9orf72 expansion carrier, who developed a dysplastic gangliocytoma (Lhermitte-Duclos disease), a rare hamartoma/overgrowth syndrome of cerebellar granule cells associated with mutations in the phosphatase and tensin homolog gene. In addition to the dysplastic gangliocytoma, the patient showed typical transactive response DNA-binding protein with Mr 43 kD (TDP-43) pathology mainly in the cortex and the substantia nigra and numerous p62-positive/TDP-43-negative inclusions in the cerebellar granule cells. His sister carried the same gene defect and showed a similar type of TDP-43/p62 pathology in her brain. Our findings confirm that the clinical and pathologic picture of C9orf72 mutation carriers is more heterogeneous than originally thought and warrants further studies on the possible involvement of phosphatase and tensin homolog gene pathway in the specific cerebellar granule cell pathology associated with C9orf72 expansion.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24080172"
-},
{
"id": "pmid:23799424",
"manubot_success": true,
@@ -13027,34 +12765,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22731640"
},
-{
- "id": "pmid:22702520",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/22702520",
- "title": "Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlation.",
- "type": "article-journal",
- "doi": "10.1111/j.1440-1789.2012.01332.x",
- "authors": [
- ["Eileen H", "Bigio"],
- ["Sandra", "Weintraub"],
- ["Rosa", "Rademakers"],
- ["Matt", "Baker"],
- ["Saman S", "Ahmadian"],
- ["Alfred", "Rademaker"],
- ["Bing Bing", "Weitner"],
- ["Qinwen", "Mao"],
- ["Kyung-Hwa", "Lee"],
- ["Manjari", "Mishra"],
- ["Rakhee A", "Ganti"],
- ["M-Marsel", "Mesulam"]
- ],
- "publisher": "Neuropathology : official journal of the Japanese Society of Neuropathology",
- "issn": "1440-1789",
- "date": "2012-06-18",
- "abstract": "Mutations in C9ORF72 resulting in expanded hexanucleotide repeats were recently reported to be the underlying genetic abnormality in chromosome 9p-linked frontotemporal lobar degeneration with TAR DNA-binding protein of 43 kD (TDP-43) proteinopathy (FTLD-TDP), amyotrophic lateral sclerosis (ALS), and frontotemporal lobar degeneration with motor neuron disease (FTLD-MND). Several subsequent publications described the neuropathology as being similar to that of FTLD-TDP and ALS without C9ORF72 mutations, except that cases with mutations have p62 and ubiquitin positive, TDP-43 negative inclusions in cerebellum, hippocampus, neocortex, and basal ganglia. The identity of this protein is as yet unknown, and its significance is unclear. With the goal of potentially uncovering the significance of these inclusions, we compared the clinical, pathologic and genetic characteristics in cases with C9ORF72 mutations to those without. We confirmed the apparent specificity of p62 positive, TDP-43 negative inclusions to cases with C9ORF72 mutations. In hippocampus, these inclusions correlated with hippocampal atrophy. No additional correlations were uncovered. However, this is the first report to show that although most cases with C9ORF72 mutations were TDP type B, some of the pathologic characteristics in these cases were more similar to TDP types A and C than to type B cases. These include greater cortical and hippocampal atrophy, greater ventricular dilatation, more neuronal loss and gliosis in temporal lobe and striatum, and TDP-43 positive fine neuritic profiles in the hippocampus, implying that the C9ORF72 mutation modifies the pathologic phenotype of FTLD-TDP type B.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22702520"
-},
{
"id": "pmid:22653589",
"manubot_success": true,
@@ -13353,26 +13063,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21642359"
},
-{
- "id": "pmid:21606187",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/21606187",
- "title": "Tyrosine-phosphorylated Ehrlichia chaffeensis and Ehrlichia canis tandem repeat orthologs contain a major continuous cross-reactive antibody epitope in lysine-rich repeats.",
- "type": "article-journal",
- "doi": "10.1128/iai.01347-10",
- "authors": [
- ["Jere W", "McBride"],
- ["Xiaofeng", "Zhang"],
- ["Abdul", "Wakeel"],
- ["Jeeba A", "Kuriakose"]
- ],
- "publisher": "Infection and immunity",
- "issn": "1098-5522",
- "date": "2011-05-23",
- "abstract": "A small subset of major immunoreactive proteins have been identified in Ehrlichia chaffeensis and Ehrlichia canis, including three molecularly and immunologically characterized pairs of immunoreactive tandem repeat protein (TRP) orthologs with major continuous species-specific epitopes within acidic tandem repeats (TR) that stimulate strong antibody responses during infection. In this study, we identified a fourth major immunoreactive TR-containing ortholog pair and defined a major cross-reactive epitope in homologous nonidentical 24-amino-acid lysine-rich TRs. Antibodies from patients and dogs with ehrlichiosis reacted strongly with recombinant TR regions, and epitopes were mapped to the N-terminal TR region (18 amino acids) in E. chaffeensis and the complete TR (24 amino acids) in E. canis. Two less-dominant epitopes were mapped to adjacent glutamate/aspartate-rich and aspartate/tyrosine-rich regions in the acidic C terminus of E. canis TRP95 but not in E. chaffeensis TRP75. Major immunoreactive proteins in E. chaffeensis (75-kDa) and E. canis (95-kD) whole-cell lysates and supernatants were identified with TR-specific antibodies. Consistent with other ehrlichial TRPs, the TRPs identified in ehrlichial whole-cell lysates and the recombinant proteins migrated abnormally slow electrophoretically a characteristic that was demonstrated with the positively charged TR and negatively charged C-terminal domains. E. chaffeensis TRP75 and E. canis TRP95 were immunoprecipitated with anti-pTyr antibody, demonstrating that they are tyrosine phosphorylated during infection of the host cell.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21606187"
-},
{
"id": "pmid:21486420",
"manubot_success": true,
@@ -13554,26 +13244,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20689246"
},
-{
- "id": "pmid:20585579",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/20585579",
- "title": "The terminal immunoglobulin-like repeats of LigA and LigB of Leptospira enhance their binding to gelatin binding domain of fibronectin and host cells.",
- "type": "article-journal",
- "doi": "10.1371/journal.pone.0011301",
- "authors": [
- ["Yi-Pin", "Lin"],
- ["Sean P", "McDonough"],
- ["Yogendra", "Sharma"],
- ["Yung-Fu", "Chang"]
- ],
- "publisher": "PloS one",
- "issn": "1932-6203",
- "date": "2010-06-24",
- "abstract": "Leptospira spp. are pathogenic spirochetes that cause the zoonotic disease leptospirosis. Leptospiral immunoglobulin (Ig)-like protein B (LigB) contributes to the binding of Leptospira to extracellular matrix proteins such as fibronectin, fibrinogen, laminin, elastin, tropoelastin and collagen. A high-affinity Fn-binding region of LigB has been localized to LigBCen2, which contains the partial 11th and full 12th Ig-like repeats (LigBCen2R) and 47 amino acids of the non-repeat region (LigBCen2NR) of LigB. In this study, the gelatin binding domain of fibronectin was shown to interact with LigBCen2R (K(D) = 1.91+/-0.40 microM). Not only LigBCen2R but also other Ig-like domains of Lig proteins including LigAVar7'-8, LigAVar10, LigAVar11, LigAVar12, LigAVar13, LigBCen7'-8, and LigBCen9 bind to GBD. Interestingly, a large gain in affinity was achieved through an avidity effect, with the terminal domains, 13th (LigA) or 12th (LigB) Ig-like repeat of Lig protein (LigAVar7'-13 and LigBCen7'-12) enhancing binding affinity approximately 51 and 28 fold, respectively, compared to recombinant proteins without this terminal repeat. In addition, the inhibited effect on MDCKs cells can also be promoted by Lig proteins with terminal domains, but these two domains are not required for gelatin binding domain binding and cell adhesion. Interestingly, Lig proteins with the terminal domains could form compact structures with a round shape mediated by multidomain interaction. This is the first report about the interaction of gelatin binding domain of Fn and Lig proteins and provides an example of Lig-gelatin binding domain binding mediating bacterial-host interaction.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20585579"
-},
{
"id": "pmid:20425835",
"manubot_success": true,
@@ -14042,28 +13712,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:18962445"
},
-{
- "id": "pmid:18951785",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/18951785",
- "title": "A bulge binding agent with novel wedge-shape topology for stimulation of DNA triplet repeat strand slippage synthesis.",
- "type": "article-journal",
- "doi": "10.1016/j.bmcl.2008.10.038",
- "authors": [
- ["Liangliang", "Liu"],
- ["Heyang", "Li"],
- ["Long", "Yi"],
- ["Xing", "Yang"],
- ["Xin", "Wen"],
- ["Zhen", "Xi"]
- ],
- "publisher": "Bioorganic & medicinal chemistry letters",
- "issn": "1464-3405",
- "date": "2008-10-11",
- "abstract": "Expansion of DNA repeat sequences is associated with many human genetic diseases. Bulged DNA structures have been implicated as intermediates in DNA slippage within the DNA repeat regions. Herein a bulge binding agent with novel wedge-shape topology of the aromatic moiety was designed and synthesized. The compound-bulge DNA interactions were characterized via UV melting experiments, circular dichroism and were quantitated by surface plasmon resonance with K(d) of 41.5 microM. This compound showed remarkable stimulation for DNA triplet repeat strand slippage synthesis in vitro.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:18951785"
-},
{
"id": "pmid:18783352",
"manubot_success": true,
@@ -14809,31 +14457,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17027356"
},
-{
- "id": "pmid:16924013",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/16924013",
- "title": "The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10.",
- "type": "article-journal",
- "doi": "10.1212/01.wnl.0000231140.26253.eb",
- "authors": [
- ["M", "Wakamiya"],
- ["T", "Matsuura"],
- ["Y", "Liu"],
- ["G C", "Schuster"],
- ["R", "Gao"],
- ["W", "Xu"],
- ["P S", "Sarkar"],
- ["X", "Lin"],
- ["T", "Ashizawa"]
- ],
- "publisher": "Neurology",
- "issn": "1526-632X",
- "date": "2006-08-22",
- "abstract": "Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder characterized by cerebellar ataxia and seizures. SCA10 is caused by an expansion of an ATTCT pentanucleotide repeat in intron 9 of the ataxin 10 (ATXN10) gene encoding an approximately 55-kd protein of unknown function. However, how this mutation leads to SCA10 is unknown.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16924013"
-},
{
"id": "pmid:16859836",
"manubot_success": true,
@@ -15061,29 +14684,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16515589"
},
-{
- "id": "pmid:16513142",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/16513142",
- "title": "Molecular mechanisms for maintenance of G-rich short tandem repeats capable of adopting G4 DNA structures.",
- "type": "article-journal",
- "doi": "10.1016/j.mrfmmm.2006.01.014",
- "authors": [
- ["Hitoshi", "Nakagama"],
- ["Kumiko", "Higuchi"],
- ["Etsuko", "Tanaka"],
- ["Naoto", "Tsuchiya"],
- ["Katsuhiko", "Nakashima"],
- ["Masato", "Katahira"],
- ["Hirokazu", "Fukuda"]
- ],
- "publisher": "Mutation research",
- "issn": "0027-5107",
- "date": "2006-03-02",
- "abstract": "Mammalian genomes contain several types of repetitive sequences. Some of these sequences are implicated in various specific cellular events, including meiotic recombination, chromosomal breaks and transcriptional regulation, and also in several human disorders. In this review, we document the formation of DNA secondary structures by the G-rich repetitive sequences that have been found in several minisatellites, telomeres and in various triplet repeats, and report their effects on in vitro DNA synthesis. d(GGCAG) repeats in the mouse minisatellite Pc-1 were demonstrated to form an intra-molecular folded-back quadruplex structure (also called a G4' structure) by NMR and CD spectrum analyses. d(TTAGGG) telomere repeats and d(CGG) triplet repeats were also shown to form G4' and other unspecified higher order structures, respectively. In vitro DNA synthesis was substantially arrested within the repeats, and this could be responsible for the preferential mutability of the G-rich repetitive sequences. Electrophoretic mobility shift assays using NIH3T3 cell extracts revealed heterogeneous nuclear ribonucleoprotein (hnRNP) A1 and A3, which were tightly and specifically bound to d(GGCAG) and d(TTAGGG) repeats with K(d) values in the order of nM. HnRNP A1 unfolded the G4' structure formed in the d(GGCAG)(n) and d(TTAGGG)(n) repeat regions, and also resolved the higher order structure formed by d(CGG) triplet repeats. Furthermore, DNA synthesis arrest at the secondary structures of d(GGCAG) repeats, telomeres and d(CGG) triplet repeats was efficiently repressed by the addition of hnRNP A1. High expression of hnRNPs may contribute to the maintenance of G-rich repetitive sequences, including telomere repeats, and may also participate in ensuring the stability of the genome in cells with enhanced proliferation. Transcriptional regulation of genes, such as c-myc and insulin, by G4 sequences found in the promoter regions could be an intriguing field of research and help further elucidate the biological functions of the hnRNP family of proteins in human diseases.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16513142"
-},
{
"id": "pmid:16493814",
"manubot_success": true,
@@ -15284,26 +14884,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16358333"
},
-{
- "id": "pmid:16319030",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/16319030",
- "title": "Dementia of frontal lobe type in Kennedy's disease.",
- "type": "article-journal",
- "doi": "10.1080/14660820510036558",
- "authors": [
- ["H", "Kessler"],
- ["J", "Prudlo"],
- ["S", "Kraft"],
- ["T", "Supprian"]
- ],
- "publisher": "Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases",
- "issn": "1466-0822",
- "date": "2005-12-01",
- "abstract": "The pathomorphological correlate of Kennedy's disease (KD) is a degeneration of spinal and bulbar alpha-motor neurons. The disease is caused by a CAG repeat expansion in the first exon of the X-chromosomal androgene receptor gene. Contrary to the common belief that cognitive disorders in motor neuron diseases (MND) are either rare or only mild, there is now an increasing number of case reports on dementia in amyotrophic lateral sclerosis (ALS). In ALS, dementia of the frontal lobe type (frontotemporal dementia, FTD) seems to be the characteristic pattern. However, in KD cognitive dysfunction has not been studied systematically. Here we present a case with clinical characteristics of FTD in a patient with genetically confirmed KD. It remains speculative whether there is an association between KD and FTD comparable to a genetic linkage between ALS and FTD, which has been proposed in recent years. However, we suggest that cognitive dysfunction may be more common in KD than reported until today.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16319030"
-},
{
"id": "pmid:16299230",
"manubot_success": true,
@@ -15396,28 +14976,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16008071"
},
-{
- "id": "pmid:15990087",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/15990087",
- "title": "Extracellular matrix protein 1 interacts with the domain III of fibulin-1C and 1D variants through its central tandem repeat 2.",
- "type": "article-journal",
- "doi": "10.1016/j.bbrc.2005.06.046",
- "authors": [
- ["Norihiro", "Fujimoto"],
- ["Joseph", "Terlizzi"],
- ["Raymond", "Brittingham"],
- ["Andrzej", "Fertala"],
- ["John A", "McGrath"],
- ["Jouni", "Uitto"]
- ],
- "publisher": "Biochemical and biophysical research communications",
- "issn": "0006-291X",
- "date": "2005-08-12",
- "abstract": "Extracellular matrix protein 1 (ECM1), a widely expressed glycoprotein, has been shown to harbor mutations in lipoid proteinosis (LP), an autosomal recessive disorder characterized by profound alterations in the extracellular matrix of connective tissue. The biological function of ECM1 and its role in the pathomechanisms of LP are unknown. Fibulins comprise a family of extracellular matrix components, and the prototype of this family, fibulin-1, is expressed in various connective tissues and plays a role in developmental and pathologic processes. In this study, we demonstrate that ECM1, and specifically the second tandem repeat domain which is alternatively spliced, interacts with the C-terminal segments of fibulins 1C and 1D splice variants which differ in their C-terminal domain III. The interactions were detected by yeast two-hybrid genetic system and confirmed by co-immunoprecipitations. Kinetics of the binding between ECM1 and fibulin-1D, measured by biosensor assay, revealed a K(d) of 5.71 x 10(-8) M, indicating a strong protein-protein interaction. Since distinct splice variants of ECM1 and fibulin-1 have been shown to be co-expressed in tissues affected in LP, we propose that altered ECM1/fibulin-1 interactions may play a role in the pathogenesis of this disease as well as in a number of processes involving the extracellular matrix of connective tissues.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:15990087"
-},
{
"id": "pmid:15956082",
"manubot_success": true,
@@ -16167,26 +15725,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:14585317"
},
-{
- "id": "pmid:14576044",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/14576044",
- "title": "Novel concatameric heparin-binding peptides reverse heparin and low-molecular-weight heparin anticoagulant activities in patient plasma in vitro and in rats in vivo.",
- "type": "article-journal",
- "doi": "10.1182/blood-2003-07-2334",
- "authors": [
- ["Barbara P", "Schick"],
- ["David", "Maslow"],
- ["Adrianna", "Moshinski"],
- ["James D", "San Antonio"]
- ],
- "publisher": "Blood",
- "issn": "0006-4971",
- "date": "2003-10-23",
- "abstract": "Patients given unfractionated heparin (UFH) or low-molecular-weight heparin (LMWH) for prophylaxis or treatment of thrombosis sometimes suffer serious bleeding. We showed previously that peptides containing 3 or more tandem repeats of heparin-binding consensus sequences have high affinity for LMWH and neutralize LMWH (enoxaparin) in vivo in rats and in vitro in citrate. We have now modified the (ARKKAAKA)(n) tandem repeat peptides by cyclization or by inclusion of hydrophobic tails or cysteines to promote multimerization. These peptides exhibit high-affinity binding to LMWH (dissociation constant [K(d)], approximately 50 nM), similar potencies in neutralizing anti-Factor Xa activity of UFH and enoxaparin added to normal plasma in vitro, and efficacy equivalent to or greater than protamine. Peptide (ARKKAAKA)(3)VLVLVLVL was most effective in all plasmas from enoxaparin-treated patients, and was 4- to 20-fold more effective than protamine. Several other peptide structures were effective in some patients' plasmas. All high-affinity peptides reversed inhibition of thrombin-induced clot formation by UFH. These peptides (1 mg/300 g rat) neutralized 1 U/mL anti-Factor Xa activity of enoxaparin in rats within 1 to 2 minutes. Direct blood pressure and heart rate measurements showed little or no hemodynamic effect. These heparin-binding peptides, singly or in combination, are potential candidates for clinical reversal of UFH and LMWH in humans.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:14576044"
-},
{
"id": "pmid:14511217",
"manubot_success": true,
@@ -16345,29 +15883,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12714591"
},
-{
- "id": "pmid:12709136",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/12709136",
- "title": "Inducible and endothelial constitutive nitric oxide synthase gene polymorphisms in Kawasaki disease.",
- "type": "article-journal",
- "doi": "10.1046/j.1442-200x.2003.01684.x",
- "authors": [
- ["Vahid", "Khajoee"],
- ["Hidehiko", "Kariyazono"],
- ["Takuro", "Ohno"],
- ["Kenji", "Ihara"],
- ["Yumi", "Mizuno"],
- ["Koichi", "Kusuhara"],
- ["Toshiro", "Hara"]
- ],
- "publisher": "Pediatrics international : official journal of the Japan Pediatric Society",
- "issn": "1328-8067",
- "date": "2003-04-01",
- "abstract": "Nitric oxide (NO) is secreted by immune and vascular endothelial cells, and appears to play important roles in the pathophysiology of Kawasaki disease (KD). Thus, genetic variations in NO synthase (NOS) genes may be involved in the development of coronary artery lesions (CAL) in KD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12709136"
-},
{
"id": "pmid:12670590",
"manubot_success": true,
@@ -16507,27 +16022,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12534937"
},
-{
- "id": "pmid:12534372",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/12534372",
- "title": "Haematopoietic lineage cell-specific protein 1 (HS1) promotes actin-related protein (Arp) 2/3 complex-mediated actin polymerization.",
- "type": "article-journal",
- "doi": "10.1042/bj20021791",
- "authors": [
- ["Takehito", "Uruno"],
- ["Peijun", "Zhang"],
- ["Jiali", "Liu"],
- ["Jian-Jiang", "Hao"],
- ["Xi", "Zhan"]
- ],
- "publisher": "The Biochemical journal",
- "issn": "0264-6021",
- "date": "2003-04-15",
- "abstract": "HS1 (haematopoietic lineage cell-specific gene protein 1), a prominent substrate of intracellular protein tyrosine kinases in haematopoietic cells, is implicated in the immune response to extracellular stimuli and in cell differentiation induced by cytokines. Although HS1 contains a 37-amino acid tandem repeat motif and a C-terminal Src homology 3 domain and is closely related to the cortical-actin-associated protein cortactin, it lacks the fourth repeat that has been shown to be essential for cortactin binding to filamentous actin (F-actin). In this study, we examined the possible role of HS1 in the regulation of the actin cytoskeleton. Immunofluorescent staining demonstrated that HS1 co-localizes in the cytoplasm of cells with actin-related protein (Arp) 2/3 complex, the primary component of the cellular machinery responsible for de novo actin assembly. Furthermore, recombinant HS1 binds directly to Arp2/3 complex with an equilibrium dissociation constant (K(d)) of 880 nM. Although HS1 is a modest F-actin-binding protein with a K(d) of 400 nM, it increases the rate of the actin assembly mediated by Arp2/3 complex, and promotes the formation of branched actin filaments induced by Arp2/3 complex and a constitutively activated peptide of N-WASP (neural Wiskott-Aldrich syndrome protein). Our data suggest that HS1, like cortactin, plays an important role in the modulation of actin assembly.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12534372"
-},
{
"id": "pmid:12478141",
"manubot_success": true,
@@ -16550,29 +16044,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12478141"
},
-{
- "id": "pmid:12470181",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/12470181",
- "title": "X-linked bulbospinal neuronopathy: Kennedy disease.",
- "type": "article-journal",
- "doi": "10.1001/archneur.59.12.1921",
- "authors": [
- ["Anne D", "Sperfeld"],
- ["Jochem", "Karitzky"],
- ["Dagmar", "Brummer"],
- ["Herbert", "Schreiber"],
- ["J\u00fcrgen", "H\u00e4ussler"],
- ["Albert C", "Ludolph"],
- ["C Oliver", "Hanemann"]
- ],
- "publisher": "Archives of neurology",
- "issn": "0003-9942",
- "date": "2002-12-01",
- "abstract": "To characterize the earliest symptoms of X-linked bulbospinal neuronopathy (Kennedy disease [KD]) during the course of the disease, including a definition of the age of onset.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12470181"
-},
{
"id": "pmid:12404104",
"manubot_success": true,
@@ -16737,32 +16208,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12189162"
},
-{
- "id": "pmid:12161529",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/12161529",
- "title": "A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length.",
- "type": "article-journal",
- "doi": "10.1210/jcem.87.8.8780",
- "authors": [
- ["S", "Dejager"],
- ["H", "Bry-Gauillard"],
- ["E", "Bruckert"],
- ["B", "Eymard"],
- ["F", "Salachas"],
- ["E", "LeGuern"],
- ["S", "Tardieu"],
- ["R", "Chadarevian"],
- ["P", "Giral"],
- ["G", "Turpin"]
- ],
- "publisher": "The Journal of clinical endocrinology and metabolism",
- "issn": "0021-972X",
- "date": "2002-08-01",
- "abstract": "Our study aims to provide a comprehensive view of the endocrine features in Kennedy's disease (KD). Twenty-two men with KD underwent detailed endocrine investigations. Clinical signs of partial androgen resistance were present in more than 80% of the patients, with gynecomastia being the most prominent. Gynecomastia was postpubertal but appeared before muscular weakness in most cases. Thirteen patients had alteration of testicular exocrine function. Hormonal profile of partial androgen resistance was present in 86% of the patients, with an elevated testosterone level in 68%. Androgen insensitivity seems to appear later in life in KD, similar to the development of neurological signs. Although we confirm the previously reported correlation between the CAG repeat length and the early onset of the neurological disease, we describe a significant correlation between repeat length and the age of onset of gynecomastia as well as biological indexes of androgen insensitivity. This is supported by numerous in vitro data correlating variations in the CAG tract with androgen receptor activity; the longer the CAG repeats, the weaker the receptor transactivation. Ours is the first study to show such a clear and prominent pattern of androgen insensitivity in KD. In clinical practice, KD patients are often misdiagnosed as having amyotrophic lateral sclerosis. Careful examination of the endocrine component could avoid such a deleterious misdiagnosis.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12161529"
-},
{
"id": "pmid:12085360",
"manubot_success": true,
@@ -17046,25 +16491,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11788641"
},
-{
- "id": "pmid:11752017",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/11752017",
- "title": "Interaction of the leucine-rich repeats of polycystin-1 with extracellular matrix proteins: possible role in cell proliferation.",
- "type": "article-journal",
- "doi": "10.1681/asn.v13119",
- "authors": [
- ["Ashraf N", "Malhas"],
- ["Ramadan A", "Abuknesha"],
- ["Robert G", "Price"]
- ],
- "publisher": "Journal of the American Society of Nephrology : JASN",
- "issn": "1046-6673",
- "date": "2002-01-01",
- "abstract": "Polycystin-1, the product of the PKD1 gene, is a membrane-bound multidomain protein with a unique structure and a molecular weight of approximately 460 kD. The purpose of this study is to investigate the binding of the cystein-flanked leucine-rich repeats (LRR) of polycystin-1 to extracellular matrix (ECM) components. These interactions may play a role in normal renal development as well as the pathogenesis of autosomal-dominant polycystic kidney disease (ADPKD). In vitro assays were used to assess the binding of a fusion protein containing the LRR of polycystin-1 and that of affinity purified polycystin-1 to a number of ECM components. The results showed that the LRR modulate the binding of polycystin-1 to collagen I, fibronectin, laminin, and cyst fluid-derived laminin fragments. The addition of the LRR fusion protein to cells in culture resulted in a significant dose-dependent reduction in the rate of proliferation. Cyst fluid-derived laminin fragments had a stimulatory effect on cell proliferation, which was reversed by the LRR fusion protein. These results suggest that the LRR of polycystin-1 act as mediators of the polycystin-1 interaction with the ECM. The observed suppression effect of the LRR on cell proliferation suggests a functional role of the LRR-mediated polycystin-1 involvement in cell-matrix and cell-cell interactions. These interactions may result in the enhanced cell proliferation that is a characteristic feature of ADPKD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11752017"
-},
{
"id": "pmid:11721964",
"manubot_success": true,
@@ -17296,27 +16722,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11443190"
},
-{
- "id": "pmid:11413147",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/11413147",
- "title": "Involvement of the nucleotide excision repair protein UvrA in instability of CAG*CTG repeat sequences in Escherichia coli.",
- "type": "article-journal",
- "doi": "10.1074/jbc.m104697200",
- "authors": [
- ["E A", "Oussatcheva"],
- ["V I", "Hashem"],
- ["Y", "Zou"],
- ["R R", "Sinden"],
- ["V N", "Potaman"]
- ],
- "publisher": "The Journal of biological chemistry",
- "issn": "0021-9258",
- "date": "2001-06-18",
- "abstract": "Several human genetic diseases have been associated with the genetic instability, specifically expansion, of trinucleotide repeat sequences such as (CTG)(n).(CAG)(n). Molecular models of repeat instability imply replication slippage and the formation of loops and imperfect hairpins in single strands. Subsequently, these loops or hairpins may be recognized and processed by DNA repair systems. To evaluate the potential role of nucleotide excision repair in repeat instability, we measured the rates of repeat deletion in wild type and excision repair-deficient Escherichia coli strains (using a genetic assay for deletions). The rate of triplet repeat deletion decreased in an E. coli strain deficient in the damage recognition protein UvrA. Moreover, loops containing 23 CTG repeats were less efficiently excised from heteroduplex plasmids after their transformation into the uvrA(-) strain. As a result, an increased proportion of plasmids containing the full-length repeat were recovered after the replication of heteroduplex plasmids containing unrepaired loops. In biochemical experiments, UvrA bound to heteroduplex substrates containing repeat loops of 1, 2, or 17 CAG repeats with a K(d) of about 10-20 nm, which is an affinity about 2 orders of magnitude higher than that of UvrA bound to the control substrates containing (CTG)(n).(CAG)(n) in the linear form. These results suggest that UvrA is involved in triplet repeat instability in cells. Specifically, UvrA may bind to loops formed during replication slippage or in slipped strand DNA and initiate DNA repair events that result in repeat deletion. These results imply a more comprehensive role for UvrA, in addition to the recognition of DNA damage, in maintaining the integrity of the genome.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11413147"
-},
{
"id": "pmid:11368874",
"manubot_success": true,
@@ -17387,27 +16792,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11330644"
},
-{
- "id": "pmid:11287790",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/11287790",
- "title": "Polymorphism of the 5'-upstream region of the human SNAP-25 gene: an association analysis with schizophrenia.",
- "type": "article-journal",
- "doi": "10.1159/000054880",
- "authors": [
- ["H", "Tachikawa"],
- ["S", "Harada"],
- ["Y", "Kawanishi"],
- ["T", "Okubo"],
- ["T", "Suzuki"]
- ],
- "publisher": "Neuropsychobiology",
- "issn": "0302-282X",
- "date": "2001-01-01",
- "abstract": "Recent studies have suggested that synaptic abnormalities may be part of the pathophysiology of schizophrenia. SNAP-25 (synaptosomal-associated protein of 25 kD) is one of the synaptic proteins responsible for presynaptic neurotransmission, axonal elongation and synaptogenesis. Genetic variation in the 5'-upstream region of the SNAP-25 gene was analyzed in 87 unrelated schizophrenic patients and 100 healthy controls. A novel polymorphic (TAAA)(n) tandem repeat was identified in the 5'-upstream region. There were no significant differences between the patient and the control groups in the distribution of repeat numbers of alleles or genotypes. In addition, no associations were found between the polymorphism for subtypes, longitudinal courses or positive family history of the patients. Our results suggest that polymorphisms in the 5'-upstream region of the SNAP-25 gene have no association with schizophrenia.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11287790"
-},
{
"id": "pmid:11266016",
"manubot_success": true,
@@ -17497,29 +16881,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11121465"
},
-{
- "id": "pmid:11054814",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/11054814",
- "title": "Laminin inhibition of beta-amyloid protein (Abeta) fibrillogenesis and identification of an Abeta binding site localized to the globular domain repeats on the laminin a chain.",
- "type": "article-journal",
- "doi": "10.1002/1097-4547(20001101)62:3<451::aid-jnr15>3.0.co;2-f",
- "authors": [
- ["G M", "Castillo"],
- ["W", "Lukito"],
- ["E", "Peskind"],
- ["M", "Raskind"],
- ["D A", "Kirschner"],
- ["A G", "Yee"],
- ["A D", "Snow"]
- ],
- "publisher": "Journal of neuroscience research",
- "issn": "0360-4012",
- "date": "2000-11-01",
- "abstract": "beta-Amyloid protein (Abeta) is a major component of neuritic plaques and cerebrovascular amyloid deposits in the brains of patients with Alzheimer's disease (AD). Inhibitors of Abeta fibrillogenesis are currently sought as potential future therapeutics for AD and related disorders. In the present study, the basement membrane protein laminin was found to bind Abeta 1-40 with a single dissociation constant, K(d) = 2.7 x 10(-9) M, and serve as a potent inhibitor of Abeta fibril formation. 25 microM of Abeta 1-40 was incubated at 37 degrees C for 1 week in the presence of 100 nM of laminin or other basement membrane components, including perlecan, type IV collagen, and fibronectin to determine their effects on Abeta fibril formation as evaluated by thioflavin T fluorometry. Of all the basement membrane components tested, laminin demonstrated the greatest inhibitory effect on Abeta-amyloid fibril formation, causing a ninefold inhibition at 1 and 3 days and a 21-fold inhibition at 1 week. The inhibitory effects of laminin on Abeta fibrillogenesis occurred in a dose-dependent manner and were still effective at lower concentrations. The inhibitory effects of laminin on Abeta 1-40 fibril formation was confirmed by negative stain electron microscopy, whereby laminin caused an almost complete inhibition of Abeta fibril formation and assembly by 3 days, resulting in the appearance of primarily amorphous nonfibrillar material. Laminin also caused partial disassembly of preformed Abeta-amyloid fibrils following 4 days of coincubation. Laminin was not effective as an inhibitor of islet amyloid polypeptide fibril formation, suggesting that laminin's amyloid inhibitory effects were Abeta-specific. To identify a potential Abeta-binding site(s) on laminin, laminin was first digested with V8, trypsin, or elastase. An Abeta-binding elastase digestion product of approximately 120-130 kDa was found. In addition, a approximately 55 kDa fragment derived from V8 and elastase-digested laminin interacted with biotinylated Abeta 1-40. Amino acid sequencing of the approximately 55 kDa fragment identified a conformationally dependent Abeta-binding site within laminin localized to the globular repeats on the laminin A chain. These studies demonstrate that laminin not only binds Abeta with relatively high affinity but is a potent inhibitor of Abeta-amyloid fibril formation. In addition, further identification of an Abeta-binding domain within the globular repeats on the laminin A chain may lead to the design of new therapeutics for the inhibition of Abeta fibrillogenesis.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11054814"
-},
{
"id": "pmid:11016637",
"manubot_success": true,
@@ -17697,27 +17058,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10794490"
},
-{
- "id": "pmid:10759785",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10759785",
- "title": "Association of neutropenia in systemic lupus erythematosus (SLE) with anti-Ro and binding of an immunologically cross-reactive neutrophil membrane antigen.",
- "type": "article-journal",
- "doi": "10.1046/j.1365-2249.2000.01195.x",
- "authors": [
- ["B T", "Kurien"],
- ["J", "Newland"],
- ["C", "Paczkowski"],
- ["K L", "Moore"],
- ["R H", "Scofield"]
- ],
- "publisher": "Clinical and experimental immunology",
- "issn": "0009-9104",
- "date": "2000-04-01",
- "abstract": "SLE is associated with the production of autoantibodies to self-constituents. In particular, certain ribonucleoprotein particles are targeted. Despite the multitude of autoantibodies produced and the remarkable concentrations of these antibodies in the sera of SLE patients, there have been little data that the autoantibodies found in SLE are involved in the pathogenesis of disease or its manifestations. The present work demonstrates that anti-Ro (or SSA) is associated with granulocytopenia, binds the surface of granulocytes and fixes complement to this membrane surface. Binding is a property of anti-Ro Fab fragments and can be inhibited by 60-kD Ro. However, the antigen bound on the surface of granulocytes is a 64 000 mol. wt protein that is a novel autoantigen in SLE. As suggested by inhibition studies, sequence identity between 60-kD Ro and eight tandem repeats in the 64-kD antigen may be responsible for the observed serologic cross-reactivity. These data imply that anti-Ro antibodies that also bind the 64-kD protein mediate neutropenia in patients with SLE.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10759785"
-},
{
"id": "pmid:10732798",
"manubot_success": true,
@@ -17806,44 +17146,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10717003"
},
-{
- "id": "pmid:10713109",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10713109",
- "title": "Cell wall biogenesis of Blastomyces dermatitidis. Evidence for a novel mechanism of cell surface localization of a virulence-associated adhesin via extracellular release and reassociation with cell wall chitin.",
- "type": "article-journal",
- "doi": "10.1074/jbc.275.11.7925",
- "authors": [
- ["T", "Brandhorst"],
- ["B", "Klein"]
- ],
- "publisher": "The Journal of biological chemistry",
- "issn": "0021-9258",
- "date": "2000-03-17",
- "abstract": "Pathogenic yeast of Blastomyces dermatitidis express a surface protein adhesin, WI-1. Due to the crucial role of WI-1 in adherence and disease pathogenesis, we investigated how the protein localizes to the surface of B. dermatitidis. WI-1 released extracellularly by wild-type yeast coated the surfaces of co-cultured knockout yeast within 3 h of incubation, implying that secreted WI-1 provides a pathway for loading the protein onto the yeast cell wall. In radioligand binding assays, purified WI-1 bound saturably, specifically, and with high affinity (K(d) = 8.3 x 10(-9)) to the cell surface of knockout yeast devoid of WI-1. WI-1 added exogenously, in vitro, to knockout yeast was indistinguishable from native cell surface WI-1 by fluorescence staining and restored adhesivity to the knockout yeast in macrophage binding and phagocytosis assays. Analysis of interactions between WI-1 and elements of the yeast cell wall identified chitin as the anchor point for WI-1. This interaction was shown to hinge on the 24-amino acid tandem repeat sequence of WI-1. Efforts to extract surface WI-1 from the yeast demonstrated that it is fastened to the wall by non-covalent interactions and covalent links between cysteine residues. We conclude that the yeast cell surface adhesin WI-1 localizes to the cell wall, in part, through extracellular release followed by high affinity binding back onto exposed chitin fibrils. These findings point to a novel pathway of cell wall biogenesis in yeast and an unanticipated role for chitin in anchoring and displaying a surface adhesin and virulence determinant.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10713109"
-},
-{
- "id": "pmid:10672238",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10672238",
- "title": "Polyglutamine domain proteins with expanded repeats bind neurofilament, altering the neurofilament network.",
- "type": "article-journal",
- "doi": "10.1111/j.1749-6632.1999.tb07826.x",
- "authors": [
- ["Y", "Nagai"],
- ["O", "Onodera"],
- ["W J", "Strittmatter"],
- ["J R", "Burke"]
- ],
- "publisher": "Annals of the New York Academy of Sciences",
- "issn": "0077-8923",
- "date": "1999-01-01",
- "abstract": "Proteins with expanded polyglutamine (polyQ) repeats cause eight inherited neurodegenerative diseases. Nuclear and cytoplasmic polyQ protein is a common feature of these diseases, but its role in cell death remains debatable. Since the neuronal intermediate filament network is composed of neurofilament (NF) and NF abnormalities occur in neurodegenerative diseases, we examined whether pathologic-length polyQ domain proteins interact with NF. We expressed polyQ-green fluorescent fusion proteins (GFP) in a neuroblast cell line, TR1. Pathologic-length polyQ-GFP fusion proteins form large cytoplasmic aggregates surrounded by neurofilament. Immunoisolation of pathologic-length polyQ proteins co-isolated 68 kD NF protein demonstrating molecular interaction. These observations suggest that polyQ interaction with NF is important in the pathogenesis of the polyglutamine repeat diseases.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10672238"
-},
{
"id": "pmid:10656235",
"manubot_success": true,
@@ -17935,30 +17237,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10617922"
},
-{
- "id": "pmid:10593301",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10593301",
- "title": "Proton magnetic resonance spectroscopy in Kennedy syndrome.",
- "type": "article-journal",
- "doi": "10.1001/archneur.56.12.1465",
- "authors": [
- ["J", "Karitzky"],
- ["W", "Block"],
- ["J K", "Mellies"],
- ["F", "Tr\u00e4ber"],
- ["A", "Sperfeld"],
- ["H H", "Schild"],
- ["P", "Haller"],
- ["A C", "Ludolph"]
- ],
- "publisher": "Archives of neurology",
- "issn": "0003-9942",
- "date": "1999-12-01",
- "abstract": "To seek regional metabolite abnormalities in patients with Kennedy disease (KD) using proton magnetic resonance spectroscopy.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10593301"
-},
{
"id": "pmid:10574254",
"manubot_success": true,
@@ -18148,33 +17426,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10234512"
},
-{
- "id": "pmid:10233729",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10233729",
- "title": "Polyclonal expansion of TCRBV2- and TCRBV6-bearing T cells in patients with Kawasaki disease.",
- "type": "article-journal",
- "doi": "10.1046/j.1365-2567.1999.00695.x",
- "authors": [
- ["T", "Yoshioka"],
- ["T", "Matsutani"],
- ["S", "Iwagami"],
- ["T", "Toyosaki-Maeda"],
- ["T", "Yutsudo"],
- ["Y", "Tsuruta"],
- ["H", "Suzuki"],
- ["S", "Uemura"],
- ["T", "Takeuchi"],
- ["M", "Koike"],
- ["R", "Suzuki"]
- ],
- "publisher": "Immunology",
- "issn": "0019-2805",
- "date": "1999-03-01",
- "abstract": "We examined T-cell receptor (TCR) usage, cytokine production and antibody responses to superantigens in patients with Kawasaki disease (KD) to facilitate a better understanding of the immunopathogenesis of KD. The mean percentage of VB2- or VB6. 5-bearing T cells in peripheral blood mononuclear cells (PBMC) of patients with acute-phase KD was significantly higher than that of patients in the convalescent phase of KD or in healthy donors. Expansion of VB2- or VB6.5-bearing T cells was polyclonal because DNA sequences in the complementarity determining region 3 of VB2- and VB6.5-positive cDNA clones were all different from each other. The plasma levels of interleukin (IL)-1beta, IL-2, IL-6, IL-8, IL-10, interferon-gamma (IFN-gamma), tumour necrosis factor-alpha (TNF-alpha) and granulocyte colony-stimulating factor (G-CSF) were elevated in the acute phase of KD. We previously reported that streptococcal pyrogenic exotoxin C (SPEC) was a potent stimulator of VB2- and VB6.5-positive T cells and, furthermore, serum levels of anti-SPEC antibodies were significantly higher in patients with acute and convalescent KD than in age-matched controls. The results of the present study, together with those of our previous report, suggest that SPEC induces activation and polyclonal expansion of VB2- and VB6.5-positive T cells, and that SPEC-induced activation of T cells may lead to the pathogenesis of KD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10233729"
-},
{
"id": "pmid:9925917",
"manubot_success": true,
@@ -18247,25 +17498,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9880240"
},
-{
- "id": "pmid:9818876",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/9818876",
- "title": "Larger CAG expansions in skeletal muscle compared with lymphocytes in Kennedy disease but not in Huntington disease.",
- "type": "article-journal",
- "doi": "10.1212/wnl.51.5.1442",
- "authors": [
- ["T", "Ansved"],
- ["A", "Lundin"],
- ["M", "Anvret"]
- ],
- "publisher": "Neurology",
- "issn": "0028-3878",
- "date": "1998-11-01",
- "abstract": "The size of CAG repeats was compared in lymphocytes and skeletal muscle from nine patients with Huntington disease (HD) and two patients with Kennedy disease (KD). In HD, the number of CAG repeats did not differ between lymphocytes and skeletal muscle. In the two KD patients, however, the CAG expansion was larger in muscle than in lymphocytes. The difference in trinucleotide expansion between lymphocytes and muscle cells is not a universal phenomenon in trinucleotide repeat disorders, but seems to occur in disorders primarily affecting the neuromuscular system.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9818876"
-},
{
"id": "pmid:9815849",
"manubot_success": true,
@@ -18484,27 +17716,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9382110"
},
-{
- "id": "pmid:9291457",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/9291457",
- "title": "Detection of serum amyloid A-derived proteins in formalin-fixed paraffin-embedded tissues: reliability of the method and expansion of its spectrum.",
- "type": "article-journal",
- "doi": "10.1093/ajcp/108.3.289",
- "authors": [
- ["S", "Shtrasburg"],
- ["A", "Livneh"],
- ["M", "Pras"],
- ["T", "Weinstein"],
- ["R", "Gal"]
- ],
- "publisher": "American journal of clinical pathology",
- "issn": "0002-9173",
- "date": "1997-09-01",
- "abstract": "To further assess the reliability of the Shtrasburg method for detection of amyloid A in formalin-fixed, paraffin-embedded tissues and to expand the spectrum of the amyloid proteins analyzed by this method, we studied formalin-fixed, paraffin-embedded amyloid-containing tissues obtained from patients with the following types of amyloidosis: amyloid A, light chain, transthyretin, calcitonin, beta2 microglobulin, and senile seminal vesicle. The tissue samples were deparaffinized, processed, and subjected to sodium dodecyl sulfate-polyacrylamide gel electrophoresis and the Western blot technique. Only specimens from patients with amyloid A amyloidosis gave protein bands: a single 8.5-kd band in lanes of all tissues studied, except thyroid tissue, which displayed two bands of about 5 and 10 kd. Other types of amyloid failed to show any protein band. These findings suggest that the Shtrasburg method is sensitive, specific, and reliable and may have an important role in the diagnosis of amyloidosis.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9291457"
-},
{
"id": "pmid:9270598",
"manubot_success": true,
@@ -18528,29 +17739,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9270598"
},
-{
- "id": "pmid:9200489",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/9200489",
- "title": "Clonal expansion of CD8+ T cells in Kawasaki disease.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["I H", "Choi"],
- ["Y J", "Chwae"],
- ["W S", "Shim"],
- ["D S", "Kim"],
- ["D H", "Kwon"],
- ["J D", "Kim"],
- ["S J", "Kim"]
- ],
- "publisher": "Journal of immunology (Baltimore, Md. : 1950)",
- "issn": "0022-1767",
- "date": "1997-07-01",
- "abstract": "Kawasaki disease (KD) is the major cause of acquired heart disease in children. KD is suspected of being an infectious disease, but the etiology has not yet been clarified. Immunologically, the disease is associated with the activation of T cells, monocytes, and macrophages resulting in highly elevated levels of several cytokines. Recently, expansions of T cells expressing TCRBV2 and TCRBV8 chains have been reported, and this suggests the involvement of a superantigen in the pathogenesis of KD. To address the role of a superantigen in KD, we investigated clonal expansion of T cells by estimating the complementarity-determining region 3 size profile among T cells expressing TCRBV1, TCRBV2, TCRBV4, TCRBV5, TCRBV8, TCRBV14, TCRBV16, TCRBV17, TCRBV18, and TCRBV20 chains during acute KD, during subacute KD, and during the long term follow-up period. During the acute phase of KD, several clonal expansions were found mainly in the CD8+ T cells that disappeared during the long term follow-up period. Our data suggest that the conventional Ags rather than a superantigen were involved in the pathogenesis of acute KD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9200489"
-},
{
"id": "pmid:9094973",
"manubot_success": true,
@@ -18665,47 +17853,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8878435"
},
-{
- "id": "pmid:8751857",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/8751857",
- "title": "CAG trinucleotide RNA repeats interact with RNA-binding proteins.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["B A", "McLaughlin"],
- ["C", "Spencer"],
- ["J", "Eberwine"]
- ],
- "publisher": "American journal of human genetics",
- "issn": "0002-9297",
- "date": "1996-09-01",
- "abstract": "Genes associated with several neurological diseases are characterized by the presence of an abnormally long trinucleotide repeat sequence. By way of example, Huntington's disease (HD), is characterized by selective neuronal degeneration associated with the expansion of a polyglutamine-encoding CAG tract. Normally, this CAG tract is comprised of 11-34 repeats, but in HD it is expanded to > 37 repeats in affected individuals. The mechanism by which CAG repeats cause neuronal degeneration is unknown, but it has been speculated that the expansion primarily causes abnormal protein functioning, which in turn causes HD pathology. Other mechanisms, however, have not been ruled out. Interactions between RNA and RNA-binding proteins have previously been shown to play a role in the expression of several eukaryotic genes. Herein, we report the association of cytoplasmic proteins with normal length and extended CAG repeats, using gel shift and UV crosslinking assays. Cytoplasmic protein extracts from several rat brain regions, including the striatum and cortex, sites of neuronal degeneration in HD, contain a 63-kD RNA-binding protein that specifically interacts with these CAG-repeat sequences. These protein-RNA interactions are dependent on the length of the CAG repeat, with longer repeats binding substantially more protein. Two CAG repeat-binding proteins are present in human cortex and striatum; one comigrates with the rat protein at 63 kD, while the other migrates at 49 kD. These data suggest mechanisms by which RNA-binding proteins may be involved in the pathological course of trinucleotide repeat-associated neurological diseases.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8751857"
-},
-{
- "id": "pmid:8765832",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/8765832",
- "title": "Isolation and characterization of a clone encoding a major allergen (Bla g Bd90K) involved in IgE-mediated cockroach hypersensitivity.",
- "type": "article-journal",
- "doi": "10.1016/s0091-6749(96)70240-3",
- "authors": [
- ["R", "Helm"],
- ["G", "Cockrell"],
- ["J S", "Stanley"],
- ["R J", "Brenner"],
- ["W", "Burks"],
- ["G A", "Bannon"]
- ],
- "publisher": "The Journal of allergy and clinical immunology",
- "issn": "0091-6749",
- "date": "1996-07-01",
- "abstract": "Previous studies have established that atopic individuals living in cockroach-infested housing become sensitized to cockroach aeroallergens and produce IgE antibodies to a variety of proteins. We describe the isolation of a complementary DNA clone from an expression library, constructed with messenger RNA from German (Blattella germanica) cockroaches, which encodes a major allergen involved in mediating cockroach hypersensitivity. Approximately 0.2% of the clones from a lambda ZAP XR cDNA library bound IgE from a patient with cockroach sensitivity. A randomly selected subset of these clones revealed that they were either different isolates of the same gene or members of a closely related gene family. One of the largest clones (a 4 kb insert) from this subset, Bla g Bd90K hybridized to a single mRNA of approximately the same size. DNA sequence analysis showed that this gene consisted of seven 576 bp tandem repeats with a short unique region at either end. No significant sequence homologies were found between the cockroach clone and any other gene reported in the GenBank database. Serum from 17 of 22 (77%) patients with cockroach hypersensitivity identified IgE-binding recombinant protein expressed from clone Bla g Bd90K in Escherichia coli XL-Blue cells as determined by sodium dodecylsulfate-polyacrylamide gel electrophoresis/immunoblot analysis. This recombinant protein migrates with a molecular weight (90 kd) apparently similar to one identified in whole body extracts. We have identified and isolated a cDNA that encodes a major cockroach allergen (Bla g Bd90K) present in German cockroaches.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8765832"
-},
{
"id": "pmid:8737374",
"manubot_success": true,
@@ -18958,25 +18105,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8232348"
},
-{
- "id": "pmid:8326001",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/8326001",
- "title": "Immunologic recognition of a 25-amino acid repeat arrayed in tandem on a major antigen of Blastomyces dermatitidis.",
- "type": "article-journal",
- "doi": "10.1172/jci116571",
- "authors": [
- ["B S", "Klein"],
- ["L H", "Hogan"],
- ["J M", "Jones"]
- ],
- "publisher": "The Journal of clinical investigation",
- "issn": "0021-9738",
- "date": "1993-07-01",
- "abstract": "A 120-kD glycoprotein antigen abundantly expressed on Blastomyces dermatitidis yeasts is a target of cellular and humoral immune responses in human infection. To investigate the antigen and immune response more carefully at the molecular level, we screened an expression library from B. dermatitidis to identify clones that encode this antigen, designated WI-1. A 942-bp cDNA was isolated by immunologic screening with polyclonal, rabbit anti-WI-1 antiserum. Northern hybridization analysis showed that the cDNA hybridized to yeast message approximately equal to 3.9 kb. DNA and deduced protein sequence analysis of the clone demonstrated a 25-amino acid repeat arrayed in tandem, present in 4.5 copies near the 5' end, and rich in predicted antigenic epitopes. Further analysis showed strong homology in these tandem repeats with invasin, an adhesin of Yersiniae. Cloned cDNA was used to express a 30-kD fusion protein strongly recognized in western blots by rabbit anti-WI-1 antiserum, and by sera from all 35 blastomycosis patients studied. The fusion protein product of subcloned cDNA encoding only the tandem repeat also was strongly recognized in western blots by sera from the 35 blastomycosis patients, but not by sera from 10 histoplasmosis and 5 coccidioidomycosis patients. An antigen-inhibition radioimmunoassay showed that the tandem repeat alone completely eliminated rabbit and human anti-WI-1 antibody binding to radiolabeled native WI-1. From these results, we conclude that the 25-amino acid repeat of WI-1 displays an immunodominant B cell epitope, and that the carboxyl-terminus of the molecule exhibits an architecture that may promote adhesion of Blastomyces yeasts to host cells or extracellular matrix proteins and ultimately provide a clearer picture of the molecular pathogenesis of blastomycosis.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8326001"
-},
{
"id": "pmid:1461383",
"manubot_success": true,
@@ -19003,54 +18131,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:1461383"
},
-{
- "id": "pmid:1387595",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/1387595",
- "title": "Stimulation of synovial fluid mononuclear cells with the human 65-kD heat shock protein or with live enterobacteria leads to preferential expansion of TCR-gamma delta+ lymphocytes.",
- "type": "article-journal",
- "doi": "10.1111/j.1365-2249.1992.tb06975.x",
- "authors": [
- ["E", "Hermann"],
- ["A W", "Lohse"],
- ["W J", "Mayet"],
- ["R", "van der Zee"],
- ["W", "Van Eden"],
- ["P", "Probst"],
- ["T", "Poralla"],
- ["K H", "Meyer zum B\u00fcschenfelde"],
- ["B", "Fleischer"]
- ],
- "publisher": "Clinical and experimental immunology",
- "issn": "0009-9104",
- "date": "1992-09-01",
- "abstract": "T lymphocyte responses to heterologous or self 65-kD heat shock protein (hsp) have been implicated in the pathogenesis of various forms of arthritis. To delineate the relationship of 65-kD hsp to different synovial fluid (SF) T cell subsets, we stimulated synovial fluid (SFMC) and peripheral blood mononuclear cells (PBMC) from patients with different inflammatory rheumatic diseases and from healthy controls with human or mycobacterial 65-kD hsp, tetanus toxoid (TT), heat-killed or live Yersinia enterocolitica. Phenotyping of the resulting T cell lines revealed an increase of up to 97% TCR-gamma delta+ lymphocytes in the 65-kD hsp-stimulated SF-derived lines. This expansion of TCR-gamma delta+ cells was less pronounced with cultures of PBMC. A preferential expansion of TCR-gamma delta+ cells was also shown after SFMC stimulation with live, but not with heat-killed Yersinia or with TT. We conclude that a common mechanism is involved in the selective expansion of TCR-gamma delta+ lymphocytes upon SFMC infection with live Yersinia or upon contact with 65-kD hsp. Out of a panel of TCR-gamma delta+ T lymphocyte clones (TLC) derived from a human 65-kD hsp-stimulated line, only a minority of TLC proliferated weakly upon restimulation with this antigen in the presence of autologous monocytes, whereas TCR-alpha beta+ TLC responded vigorously to the human 65-kD hsp and in some cases also cross-recognized the mycobacterial hsp homologue and/or heat-killed Yersinia. This implies that additional factors or cells may be present in the milieu of SFMC cultures that propagate the expansion of TCR-gamma delta+ cells in response to 65-kD hsp or live bacteria.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:1387595"
-},
-{
- "id": "pmid:1315049",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/1315049",
- "title": "Selective expansion of T cells expressing T-cell receptor variable regions V beta 2 and V beta 8 in Kawasaki disease.",
- "type": "article-journal",
- "doi": "10.1073/pnas.89.9.4066",
- "authors": [
- ["J", "Abe"],
- ["B L", "Kotzin"],
- ["K", "Jujo"],
- ["M E", "Melish"],
- ["M P", "Glode"],
- ["T", "Kohsaka"],
- ["D Y", "Leung"]
- ],
- "publisher": "Proceedings of the National Academy of Sciences of the United States of America",
- "issn": "0027-8424",
- "date": "1992-05-01",
- "abstract": "Kawasaki disease (KD) is an acute vasculitis complicated by the development of coronary artery abnormalities. The etiology of KD is unknown. Based on the observation that KD is associated with marked activation of T cells and monocyte/macrophages, we hypothesized that KD may be caused by a superantigen [e.g., a bacterial toxin that stimulates T cells expressing particular T-cell receptor beta chain variable (V beta) gene segments]. Peripheral blood T cells from patients in the acute and convalescent phases of KD and from various control groups were analyzed for T-cell receptor V beta gene expression by using a quantitative PCR technique and cytofluorographic analysis with available anti-V beta monoclonal antibodies. Patients with acute KD demonstrated significantly elevated levels of circulating V beta 2+ and V beta 8.1+ T cells compared to the other control groups. none of the other 20 V beta populations analyzed by quantitative PCR were found to be significantly elevated. Using flow cytometry, we confirmed a significant elevation of T cells reactive with anti-V beta 8.1 and the lack of change in several other V beta subsets--i.e. V beta 5.1, -5.2, -6.7, and -12. During the convalescence phase of KD, there was a reduction in the abnormal levels of V beta 2+ and V beta 8.1+ T cells. These observations suggest that KD may be caused by a superantigen and may provide insight into the nature of the etiologic agent.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:1315049"
-},
{
"id": "pmid:1734865",
"manubot_success": true,
@@ -19074,85 +18154,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:1734865"
},
-{
- "id": "pmid:1730088",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/1730088",
- "title": "Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["J L", "Miller"],
- ["V A", "Lyle"],
- ["D", "Cunningham"]
- ],
- "publisher": "Blood",
- "issn": "0006-4971",
- "date": "1992-01-15",
- "abstract": "The primary sequences of the three individual glycoprotein (GP) chains, GPIb alpha, GPIb beta, and GPIX, comprising the normal platelet GPIb/IX receptor for von Willebrand factor (vWF) have recently been determined, opening the possibility for characterization of disorders of this receptor at the molecular level. The presence of a leucine tandem repeat in each of these chains is of particular interest, because such repeats may be involved in associations between polypeptide segments. We now report an autosomal dominant variant of Bernard-Soulier disease associated with the heterozygous substitution of phenylalanine for a highly conserved leucine residue within the GPIb alpha leucine tandem repeat. Affected individuals experienced a moderate bleeding tendency, thrombocytopenia, and an increased mean platelet volume. Platelet aggregation was decreased only in response to ristocetin or to asialo-vWF. The kd for 125I-vWF binding to patients platelets was significantly increased over control values at 0.5 mg/mL ristocetin, but was normal at 1.0 or 1.5 mg/mL ristocetin. While sodium dodecyl sulfate-polyacrylamide gel electrophoresis showed an essentially normal complement of all components of the GPIb/IX complex, a minor amount of a putative proteolytic fragment was identified that migrated faster than GPIb and was immunoreactive with polyclonal anti-GPIb alpha antibody, but not with a monoclonal antibody directed against the 45-Kd amino-terminal region of GPIb alpha. However, because the great majority of patient GPIb alpha comigrates with normal GPIb alpha, the major functional abnormalities of the patient platelets are most likely a consequence of the altered structure of the nonproteolyzed protein. Full concordance within the studied family between phenotypic expression and a heterozygous single nucleotide substitution in genomic DNA coding for a phenylalanine in place of the wild-type leucine at residue 57 of the mature GPIb alpha, absence of this substitution in 266 alleles from the normal population, and the lack of any other abnormality of patient DNA throughout the entire coding sequence for GPIb alpha provide strong support that this substitution may constitute a pathologic point mutation responsible for the observed phenotypic abnormalities. While the roles that leucine tandem repeats may normally play within the GPIb/IX complex are not yet known, the perturbation of such a repeat in GPIb alpha may impair interaction with other components of the complex and/or with the binding of vWF.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:1730088"
-},
-{
- "id": "pmid:2481875",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/2481875",
- "title": "Antibodies in rheumatoid arthritis react specifically with the glycine alanine repeat sequence of Epstein-Barr nuclear antigen-1.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["C", "Baboonian"],
- ["D", "Halliday"],
- ["P J", "Venables"],
- ["T", "Pawlowski"],
- ["G", "Millman"],
- ["R N", "Maini"]
- ],
- "publisher": "Rheumatology international",
- "issn": "0172-8172",
- "date": "1989-01-01",
- "abstract": "Antibodies to rheumatoid arthritis nuclear antigen (RANA) are four- to sixfold increased in sera from patients with rheumatoid arthritis (RA), whereas levels of antibodies to other EBV encoded antigens are slightly elevated or normal. We have demonstrated that the major epitopes recognised by anti-RANA antibodies are represented by a synthetic peptide, P62, corresponding to part of the internal repeat sequence which contains only the amino acids glycine and alanine. In an enzyme-linked immunosorbent assay, anti-P62 antibodies in rheumatoid arthritis sera were four fold higher than healthy and disease controls. By contrast, levels of antibodies to a cloned fusion protein, representing the C-terminus of EBNA-1 and excluding the IR3 region, were normal in RA, but elevated fivefold in nasopharyngeal carcinoma (NPC). Affinity purified anti-P62 antibodies reacted with EBNA-1 and RANA but also with a 60 kD protein present in tissue extracts which has been tentatively identified as cytokeratin. This suggests that the specific increase of anti-P62 antibodies in RA may be due to cross-reactions with autoantibodies to structural proteins with repeat sequences containing glycine. Such sequences are found in cytokeratin and proteoglycans, suggesting that anti-P62 (and hence anti-RANA) antibodies may be cross-reactive antibodies of pathogenic significance in RA, though not necessarily indicating an aetiological role for EBV.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:2481875"
-},
-{
- "id": "pmid:2959371",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/2959371",
- "title": "A human autoimmune protein associated with U1 RNA contains a region of homology that is cross-reactive with retroviral p30gag antigen.",
- "type": "article-journal",
- "doi": "10.1016/0092-8674(87)90148-6",
- "authors": [
- ["C C", "Query"],
- ["J D", "Keene"]
- ],
- "publisher": "Cell",
- "issn": "0092-8674",
- "date": "1987-10-23",
- "abstract": "cDNA encoding a 70 kd protein (70K) associated with U1 small nuclear ribonucleoprotein (snRNP) was cloned from a human brain-stem library using autoantibodies from patients with connective tissue disease. The cDNA-derived amino acid sequence contains 23 residues homologous to a region of murine leukemia virus group-specific antigen p30gag. The homology residues in an antigenic portion of the 70K protein and is defined by a core consensus sequence, ETPEEREERRR, that occurs as a tandem repeat in p30gag of most mammalian type C retroviruses. Anti-p30gag antibodies recognized a recombinant 70K-LacZ fusion protein as well as U1 snRNPs. Using synthetic peptides as competitors, we demonstrated that the region of homology encompasses the site of immunological cross-reactivity. Thus autoantibodies against U1 snRNPs were elicited by immunization with p30gag. On the basis of these findings, we suggest a role for retroviruses in the initiation of autoimmunity.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:2959371"
-},
-{
- "id": "pmid:3531237",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/3531237",
- "title": "Antigens of Borrelia burgdorferi recognized during Lyme disease. Appearance of a new immunoglobulin M response and expansion of the immunoglobulin G response late in the illness.",
- "type": "article-journal",
- "doi": "10.1172/jci112683",
- "authors": [
- ["J E", "Craft"],
- ["D K", "Fischer"],
- ["G T", "Shimamoto"],
- ["A C", "Steere"]
- ],
- "publisher": "The Journal of clinical investigation",
- "issn": "0021-9738",
- "date": "1986-10-01",
- "abstract": "Using immunoblots, we identified proteins of Borrelia burgdorferi bound by IgM and IgG antibodies during Lyme disease. In 12 patients with early disease alone, both the IgM and IgG responses were restricted primarily to a 41-kD antigen. This limited response disappeared within several months. In contrast, among six patients with prolonged illness, the IgM response to the 41-kD protein sometimes persisted for months to years, and late in the illness during arthritis, a new IgM response sometimes developed to a 34-kD component of the organism. The IgG response in these patients appeared in a characteristic sequential pattern over months to years to as many as 11 spirochetal antigens. The appearance of a new IgM response and the expansion of the IgG response late in the illness, and the lack of such responses in patients with early disease alone, suggest that B. burgdorferi remains alive throughout the illness.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:3531237"
-},
{
"id": "pmid:39123069",
"manubot_success": true,
@@ -19706,29 +18707,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:15533998"
},
-{
- "id": "pmid:39229486",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39229486",
- "title": "",
- "type": "article-journal",
- "doi": "10.1093/braincomms/fcae282",
- "authors": [
- ["Jack", "Rivers-Auty"],
- ["Christopher", "Hoyle"],
- ["Ayesha", "Pointer"],
- ["Catherine", "Lawrence"],
- ["Stuart", "Pickering-Brown"],
- ["David", "Brough"],
- ["Sarah", "Ryan"]
- ],
- "publisher": "Brain communications",
- "issn": "2632-1297",
- "date": "2024-08-20",
- "abstract": "Frontotemporal dementia and amyotrophic lateral sclerosis are neurodegenerative diseases with considerable clinical, genetic and pathological overlap. The most common cause of both diseases is a hexanucleotide repeat expansion in",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39229486"
-},
{
"id": "pmid:39224955",
"manubot_success": true,
@@ -19834,115 +18812,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38152578"
},
-{
- "id": "pmid:38095907",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38095907",
- "title": "Establishment and Characterization of a TP53-Mutated Eyelid Sebaceous Carcinoma Cell Line.",
- "type": "article-journal",
- "doi": "10.1167/iovs.64.15.16",
- "authors": [
- ["Xiang", "Gu"],
- ["Ziyue", "Huang"],
- ["Jie", "Chen"],
- ["Yingxiu", "Luo"],
- ["Shengfang", "Ge"],
- ["Renbing", "Jia"],
- ["Xin", "Song"],
- ["Peiwei", "Chai"],
- ["Shiqiong", "Xu"],
- ["Xianqun", "Fan"]
- ],
- "publisher": "Investigative ophthalmology & visual science",
- "issn": "1552-5783",
- "date": "2023-12-01",
- "abstract": "Eyelid sebaceous carcinoma (SeC) is the third most frequent eyelid malignancy worldwide and is relatively prevalent in Asian patients. An eyelid SeC cell line model is necessary for experimental research to explore the etiology and pathogenesis of eyelid SeC. This study established and characterized an eyelid SeC cell line with a TP53 mutation that might be useful for analyzing potential treatment options for eyelid SeC.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38095907"
-},
-{
- "id": "pmid:38077157",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38077157",
- "title": "First report on establishment and characterization of the extrahepatic cholangiocarcinoma sarcoma cell line CBC2T-2.",
- "type": "article-journal",
- "doi": "10.3748/wjg.v29.i41.5683",
- "authors": [
- ["Ning-Zu", "Jiang"],
- ["Ming-Zhen", "Bai"],
- ["Chong-Fei", "Huang"],
- ["Ze-Long", "Ma"],
- ["Ru-Yang", "Zhong"],
- ["Wen-Kang", "Fu"],
- ["Long", "Gao"],
- ["Liang", "Tian"],
- ["Ning-Ning", "Mi"],
- ["Hai-Dong", "Ma"],
- ["Ya-Wen", "Lu"],
- ["Zi-Ang", "Zhang"],
- ["Jin-Yu", "Zhao"],
- ["Hai-Ying", "Yu"],
- ["Bao-Ping", "Zhang"],
- ["Xian-Zhuo", "Zhang"],
- ["Yan-Xian", "Ren"],
- ["Chao", "Zhang"],
- ["Yong", "Zhang"],
- ["Ping", "Yue"],
- ["Yan-Yan", "Lin"],
- ["Wen-Bo", "Meng"]
- ],
- "publisher": "World journal of gastroenterology",
- "issn": "2219-2840",
- "date": "2023-11-07",
- "abstract": "Extrahepatic cholangiocarcinoma sarcoma is extremely rare in clinical practice. These cells consist of both epithelial and mesenchymal cells. Patient-derived cell lines that maintain tumor characteristics are valuable tools for studying the molecular mechanisms associated with carcinosarcoma. However, cholangiocarcinoma sarcoma cell lines are not available in cell banks.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38077157"
-},
-{
- "id": "pmid:37661406",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37661406",
- "title": "CDK9 Inhibitor Induces Apoptosis, Autophagy, and Suppression of Tumor Growth in Adult T-Cell Leukemia/Lymphoma.",
- "type": "article-journal",
- "doi": "10.1248/bpb.b23-00228",
- "authors": [
- ["Naho", "Kato"],
- ["Tomohiro", "Kozako"],
- ["Takeo", "Ohsugi"],
- ["Yuichiro", "Uchida"],
- ["Makoto", "Yoshimitsu"],
- ["Kenji", "Ishitsuka"],
- ["Akiyoshi", "Aikawa"],
- ["Shin-Ichiro", "Honda"]
- ],
- "publisher": "Biological & pharmaceutical bulletin",
- "issn": "1347-5215",
- "date": "2023-01-01",
- "abstract": "Adult T-cell leukemia/lymphoma (ATL) is a hematopoietic malignancy with a poor prognosis that develops in approximately 5% of human T-cell leukemia virus type 1 (HTLV-1) carriers. Cyclin-dependent kinase 9 (CDK9), together with Cyclin T, forms a transcription elongation factor, positive transcription elongation factor b (P-TEFb). P-TEFb promotes transcriptional elongation by phosphorylating the second serine (Ser2) of the seven amino acid repeat sequence in the C-terminal domain of RNA polymerase II (RNAP II). CDK9 inhibitors suppress cell proliferation by inducing apoptosis in chronic lymphocytic leukemia and breast cancer but there are no reports on autophagy of CDK9 inhibitors. Here, we investigated the effect of LY2857785, a novel CDK9 selective inhibitor, on cell death in ATL-related cell lines in vitro, freshly isolated cells from ATL patients ex vivo, and on ATL tumor xenografts in NOD/SCID mice in vivo. LY2857785 significantly reduced cell viability and induced apoptosis, as shown by annexin V-positive cells, cleaved poly(ADP-ribose) polymerase (PARP), and cleaved caspase-3, and suppressed the levels of anti-apoptotic protein myeloid cell leukemia-1 (MCL-1). LY2857785 decreased RNAP II Ser2 phosphorylation and downstream c-Myc protein levels. Interestingly, LY2857785 also increased microtubule-associated proteins 1A/1B light chain 3B (LC3)-II binding to autophagosome membranes. Furthermore, LY2857785 decreased the viability of freshly isolated ATL cells and induced apoptosis. Finally, LY2857785 significantly decreased the growth of ATL tumor xenografts. These results suggest that LY2857785 induces cell death of ATL cells by MCL-1-dependent apoptosis and autophagy and has anti-tumor activity.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37661406"
-},
-{
- "id": "pmid:37616230",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37616230",
- "title": "Significant expansion of the donor pool achieved by utilizing islets of variable quality in the production of allogeneic \"Neo-Islets\", 3-D organoids of Mesenchymal Stromal and islet cells, a novel immune-isolating biotherapy for Type I Diabetes.",
- "type": "article-journal",
- "doi": "10.1371/journal.pone.0290460",
- "authors": [
- ["Anna M", "Gooch"],
- ["Sabiha S", "Chowdhury"],
- ["Ping M", "Zhang"],
- ["Zhuma M", "Hu"],
- ["Christof", "Westenfelder"]
- ],
- "publisher": "PloS one",
- "issn": "1932-6203",
- "date": "2023-08-24",
- "abstract": "Novel biotherapies for Type 1 Diabetes that provide a significantly expanded donor pool and that deliver all islet hormones without requiring anti-rejection drugs are urgently needed. Scoring systems have improved islet allotransplantation outcomes, but their use may potentially result in the waste of valuable cells for novel therapies. To address these issues, we created \"Neo-Islets\" (NIs), islet-sized organoids, by co-culturing in ultralow adhesion flasks culture-expanded islet (ICs) and Mesenchymal Stromal Cells (MSCs) (x 24 hrs, 1:1 ratio). The MSCs exert powerful immune- and cyto-protective, anti-inflammatory, proangiogenic, and other beneficial actions in NIs. The robust in vitro expansion of all islet hormone-producing cells is coupled to their expected progressive de-differentiation mediated by serum-induced cell cycle entry and Epithelial-Mesenchymal Transition (EMT). Re-differentiation in vivo of the ICs and resumption of their physiological functions occurs by reversal of EMT and serum withdrawal-induced exit from the cell cycle. Accordingly, we reported that allogeneic, i.p.-administered NIs engraft in the omentum, increase Treg numbers and reestablish permanent normoglycemia in autoimmune diabetic NOD mice without immunosuppression. Our FDA-guided pilot study (INAD 012-0776) in insulin-dependent pet dogs showed similar responses, and both human- and canine-NIs established normoglycemia in STZ-diabetic NOD/SCID mice even though the utilized islets would be scored as unsuitable for transplantation. The present study further demonstrates that islet gene expression profiles (\u03b1, \u03b2, \u03b3, \u03b4) in human \"non-clinical grade\" islets obtained from diverse, non-diabetic human and canine donors (n = 6 each) closely correlate with population doublings, and the in vivo re-differentiation of endocrine islet cells clearly corresponds with the reestablishment of euglycemia in diabetic mice. Conclusion: human-NIs created from diverse, \"non-clinical grade\" donors have the potential to greatly expand patient access to this curative therapy of T1DM, facilitated by the efficient in vitro expansion of ICs that can produce ~ 270 therapeutic NI doses per donor for 70 kg recipients.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37616230"
-},
{
"id": "pmid:37243799",
"manubot_success": true,
@@ -19962,59 +18831,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37243799"
},
-{
- "id": "pmid:37010807",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37010807",
- "title": "Inflammasome-Mediated Neuronal-Microglial Crosstalk: a Therapeutic Substrate for the Familial C9orf72 Variant of Frontotemporal Dementia/Amyotrophic Lateral Sclerosis.",
- "type": "article-journal",
- "doi": "10.1007/s12035-023-03315-w",
- "authors": [
- ["Kyle J", "Trageser"],
- ["Eun-Jeong", "Yang"],
- ["Chad", "Smith"],
- ["Ruth", "Iban-Arias"],
- ["Tatsunori", "Oguchi"],
- ["Maria", "Sebastian-Valverde"],
- ["Umar Haris", "Iqbal"],
- ["Henry", "Wu"],
- ["Molly", "Estill"],
- ["Md", "Al Rahim"],
- ["Urdhva", "Raval"],
- ["Francis J", "Herman"],
- ["Yong Jie", "Zhang"],
- ["Leonard", "Petrucelli"],
- ["Giulio Maria", "Pasinetti"]
- ],
- "publisher": "Molecular neurobiology",
- "issn": "1559-1182",
- "date": "2023-04-03",
- "abstract": "Intronic G",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37010807"
-},
-{
- "id": "pmid:36591307",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36591307",
- "title": "TLR7 agonism accelerates disease in a mouse model of primary Sj\u00f6gren's syndrome and drives expansion of T-bet",
- "type": "article-journal",
- "doi": "10.3389/fimmu.2022.1034336",
- "authors": [
- ["Achamaporn", "Punnanitinont"],
- ["Eileen M", "Kasperek"],
- ["Jeremy", "Kiripolsky"],
- ["Chengsong", "Zhu"],
- ["Jeffrey C", "Miecznikowski"],
- ["Jill M", "Kramer"]
- ],
- "publisher": "Frontiers in immunology",
- "issn": "1664-3224",
- "date": "2022-12-15",
- "abstract": "Primary Sj\u00f6gren's syndrome (pSS) is a systemic autoimmune disease characterized by chronic inflammation of exocrine tissue, resulting in loss of tears and saliva. Patients also experience many extra-glandular disease manifestations. Treatment for pSS is palliative, and there are currently no treatments available that target disease etiology. Previous studies in our lab demonstrated that MyD88 is crucial for pSS pathogenesis in the NOD.B10Sn-",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36591307"
-},
{
"id": "pmid:36530930",
"manubot_success": true,
@@ -20048,86 +18864,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36530930"
},
-{
- "id": "pmid:35814515",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35814515",
- "title": "Acute Graft Versus Host Disease Following Liver Transplantation: Case Report With Review of Current Literature.",
- "type": "article-journal",
- "doi": "10.1016/j.jceh.2022.03.009",
- "authors": [
- ["Kirubakaran K", "Renganathan"],
- ["Anand", "Ramamurthy"],
- ["Sheeba", "Jacob"],
- ["Anil", "Tharigopula"],
- ["Anil", "Vaidya"],
- ["Mahesh", "Gopashetty"],
- ["Anand", "Khakar"]
- ],
- "publisher": "Journal of clinical and experimental hepatology",
- "issn": "0973-6883",
- "date": "2022-04-01",
- "abstract": "Graft verus host disease (GVHD) following Liver transplantation is rare life threatening complication with very high mortality rate around 85%. Due to increased recognition of this condition management approach is rapidly evolving due to newer diagnostic methods and drugs. Etiology, risk factors, pathogenesis, preventive strategies, management approach and newer drugs are discussed. We present our experience of 2 cases from a large cohort of 1052 Liver transplant operations over a decade.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35814515"
-},
-{
- "id": "pmid:35476975",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35476975",
- "title": "Interferons limit autoantigen-specific CD8",
- "type": "article-journal",
- "doi": "10.1016/j.celrep.2022.110747",
- "authors": [
- ["Gaurang", "Jhala"],
- ["Balasubramanian", "Krishnamurthy"],
- ["Thomas C", "Brodnicki"],
- ["Tingting", "Ge"],
- ["Satoru", "Akazawa"],
- ["Claudia", "Selck"],
- ["Prerak M", "Trivedi"],
- ["Evan G", "Pappas"],
- ["Leanne", "Mackin"],
- ["Nicola", "Principe"],
- ["Erwan", "Br\u00e9maud"],
- ["David J", "De George"],
- ["Louis", "Boon"],
- ["Ian", "Smyth"],
- ["Jonathan", "Chee"],
- ["Thomas W H", "Kay"],
- ["Helen E", "Thomas"]
- ],
- "publisher": "Cell reports",
- "issn": "2211-1247",
- "date": "2022-04-26",
- "abstract": "Interferon gamma (IFN\u03b3) is a proinflammatory cytokine implicated in autoimmune diseases. However, deficiency or neutralization of IFN\u03b3 is ineffective in reducing disease. We characterize islet antigen-specific T\u00a0cells in non-obese diabetic (NOD) mice lacking all three IFN receptor genes. Diabetes is minimally affected, but at 125\u00a0days of age, antigen-specific CD8",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35476975"
-},
-{
- "id": "pmid:35017236",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35017236",
- "title": "Contribution of primary care expansion to Sustainable Development Goal 3 for health: a microsimulation of the 15 largest cities in Brazil.",
- "type": "article-journal",
- "doi": "10.1136/bmjopen-2021-049251",
- "authors": [
- ["Sanjay", "Basu"],
- ["Thomas", "Hone"],
- ["Daniel", "Villela"],
- ["Valeria", "Saraceni"],
- ["Anete", "Trajman"],
- ["Betina", "Durovni"],
- ["Christopher", "Millett"],
- ["Davide", "Rasella"]
- ],
- "publisher": "BMJ open",
- "issn": "2044-6055",
- "date": "2022-01-11",
- "abstract": "As middle-income countries strive to achieve the Sustainable Development Goals (SDGs), it remains unclear to what degree expanding primary care coverage can help achieve those goals and reduce within-country inequalities in mortality. Our objective was to estimate the potential impact of primary care expansion on cause-specific mortality in the 15 largest Brazilian cities.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35017236"
-},
{
"id": "pmid:34968706",
"manubot_success": true,
@@ -20153,64 +18889,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34968706"
},
-{
- "id": "pmid:34438836",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34438836",
- "title": "Establishment and Characterization of Feline Mammary Tumor Patient-Derived Xenograft Model.",
- "type": "article-journal",
- "doi": "10.3390/ani11082380",
- "authors": [
- ["Hsiao-Li", "Chuang"],
- ["Yi-Chih", "Chang"],
- ["Yi-Ting", "Huang"],
- ["Jiunn-Wang", "Liao"],
- ["Pei-Ling", "Kao"],
- ["Yi-Fei", "Chen"],
- ["Bin-Yin", "Lin"],
- ["Yi-Lo", "Lin"],
- ["Ter-Hsin", "Chen"],
- ["Yu-Chih", "Wang"]
- ],
- "publisher": "Animals : an open access journal from MDPI",
- "issn": "2076-2615",
- "date": "2021-08-12",
- "abstract": "Feline mammary tumor is a relatively commonly diagnosed neoplasm in the cat. Development of new veterinary cancer therapies is limited by the shortage of in vivo models that reproduce tumor microenvironment and metastatic progression. Four feline mammary tumor orthotopic patient-derived xenograft model (PDX) successfully established in NOD-SCID gamma (NSG) mice. The overall success rate of PDX establishment was 36% (4/11). Histological, immunohistochemical, and short tandem repeat analysis showed a remarkable similarity between patient's tumor and xenograft. The tumor grafts conserve original tumor essential features, including distant metastasis. Primary FMT-1807 cell line isolated from FMT-1807PDX tumor tissue. Tumorigenicity of FMT-1807 cells expanded from PDX was assessed by orthotopic injection into NSG mice. Mice yielded tumors which preserve the lung and liver metastasis ability. This work provides a platform for FMT translational investigation.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34438836"
-},
-{
- "id": "pmid:34108258",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34108258",
- "title": "Mouse IL-2/CD25 Fusion Protein Induces Regulatory T Cell Expansion and Immune Suppression in Preclinical Models of Systemic Lupus Erythematosus.",
- "type": "article-journal",
- "doi": "10.4049/jimmunol.2100078",
- "authors": [
- ["Jenny H", "Xie"],
- ["Yifan", "Zhang"],
- ["Martine", "Loubeau"],
- ["Paul", "Mangan"],
- ["Elizabeth", "Heimrich"],
- ["Christian", "Tovar"],
- ["Xiadi", "Zhou"],
- ["Priyanka", "Madia"],
- ["Michael", "Doyle"],
- ["Shailesh", "Dudhgaonkar"],
- ["Anjuman", "Rudra"],
- ["Siva", "Subramani"],
- ["James", "Young"],
- ["Luisa", "Salter-Cid"],
- ["Thomas R", "Malek"],
- ["Mary", "Struthers"]
- ],
- "publisher": "Journal of immunology (Baltimore, Md. : 1950)",
- "issn": "1550-6606",
- "date": "2021-06-09",
- "abstract": "Systemic lupus erythematosus (SLE) is associated with an IL-2-deficient state, with regulatory T cells (Tregs) showing diminished immune regulatory capacity. A low dose of IL-2 has shown encouraging clinical benefits in SLE patients; however, its clinical utility is limited because of the requirement of daily injections and the observation of increase in proinflammatory cytokines and in non-Tregs. We recently showed that a fusion protein of mouse IL-2 and mouse IL-2R\u03b1 (CD25), joined by a noncleavable linker, was effective in treating diabetes in NOD mice by selectively inducing Treg expansion. In this report, we show that mouse IL-2 (mIL-2)/CD25 at doses up to 0.5 mg/kg twice a week induced a robust Treg expansion without showing signs of increase in the numbers of NK, CD4",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34108258"
-},
{
"id": "pmid:34022586",
"manubot_success": true,
@@ -20237,112 +18915,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34022586"
},
-{
- "id": "pmid:33968043",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33968043",
- "title": "Rhinovirus C Infection Induces Type 2 Innate Lymphoid Cell Expansion and Eosinophilic Airway Inflammation.",
- "type": "article-journal",
- "doi": "10.3389/fimmu.2021.649520",
- "authors": [
- ["Charu", "Rajput"],
- ["Mingyuan", "Han"],
- ["Tomoko", "Ishikawa"],
- ["Jing", "Lei"],
- ["Adam M", "Goldsmith"],
- ["Seyedehzarifeh", "Jazaeri"],
- ["Claudia C", "Stroupe"],
- ["J Kelley", "Bentley"],
- ["Marc B", "Hershenson"]
- ],
- "publisher": "Frontiers in immunology",
- "issn": "1664-3224",
- "date": "2021-04-22",
- "abstract": "Rhinovirus C (RV-C) infection is associated with severe asthma exacerbations. Since type 2 inflammation is an important disease mechanism in asthma, we hypothesized that RV-C infection, in contrast to RV-A, preferentially stimulates type 2 inflammation, leading to exacerbated eosinophilic inflammation. To test this, we developed a mouse model of RV-C15 airways disease. RV-C15 was generated from the full-length cDNA clone and grown in HeLa-E8 cells expressing human CDHR3. BALB/c mice were inoculated intranasally with 5 x 10",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33968043"
-},
-{
- "id": "pmid:33658787",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33658787",
- "title": "Association of Serotonin Transporter (SERT) Polymorphisms with Opioid Dependence and Dimensional Aspects of Cocaine Use in a Caucasian Cohort of Opioid Users.",
- "type": "article-journal",
- "doi": "10.2147/ndt.s286536",
- "authors": [
- ["Vadim", "Yuferov"],
- ["Eduardo R", "Butelman"],
- ["Matthew", "Randesi"],
- ["Wim", "van den Brink"],
- ["Peter", "Blanken"],
- ["Jan M", "van Ree"],
- ["Mary Jeanne", "Kreek"]
- ],
- "publisher": "Neuropsychiatric disease and treatment",
- "issn": "1176-6328",
- "date": "2021-02-25",
- "abstract": "A functional tandem repeat polymorphism in the promoter of the serotonin transporter (SERT) gene (SLC6A4) has been studied for association to neuropsychiatric conditions, including substance use disorders. Short (S) forms of this repeat result in reduced transcription, and presumably greater synaptic levels of serotonin, which are involved in opioid and cocaine-induced reward. Dual exposure to heroin and cocaine is a common pattern of poly-drug use and is associated with considerable morbidity. We hypothesize that SLC6A4 variants are associated with cocaine exposure in subjects with an opioid dependence diagnosis (OD), and also in non-dependent opioid users (NOD). Other single nucleotide polymorphisms (SNPs) of SLC6A4 may also be likewise associated.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33658787"
-},
-{
- "id": "pmid:33483762",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33483762",
- "title": "Deficiency of the innate immune adaptor STING promotes autoreactive T cell expansion in NOD mice.",
- "type": "article-journal",
- "doi": "10.1007/s00125-020-05378-z",
- "authors": [
- ["Satoru", "Akazawa"],
- ["Leanne", "Mackin"],
- ["Gaurang", "Jhala"],
- ["Stacey", "Fynch"],
- ["Tara", "Catterall"],
- ["Claudia", "Selck"],
- ["Kate L", "Graham"],
- ["Balasubramanian", "Krishnamurthy"],
- ["Evan G", "Pappas"],
- ["Chun-Ting J", "Kwong"],
- ["Andrew P R", "Sutherland"],
- ["Thomas W H", "Kay"],
- ["Thomas C", "Brodnicki"],
- ["Helen E", "Thomas"]
- ],
- "publisher": "Diabetologia",
- "issn": "1432-0428",
- "date": "2021-01-23",
- "abstract": "Stimulator of IFN genes (STING) is a central hub for cytosolic nucleic acid sensing and its activation results in upregulation of type I IFN production in innate immune cells. A type I IFN gene signature seen before the onset of type 1 diabetes has been suggested as a driver of disease initiation both in humans and in the NOD mouse model. A possible source of type I IFN is through activation of the STING pathway. Recent studies suggest that STING also has antiproliferative and proapoptotic functions in T cells that are independent of IFN. To investigate whether STING is involved in autoimmune diabetes, we examined the impact of genetic deletion of STING in NOD mice.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33483762"
-},
-{
- "id": "pmid:33479057",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33479057",
- "title": "Impaired Activated/Memory Regulatory T Cell Clonal Expansion Instigates Diabetes in NOD Mice.",
- "type": "article-journal",
- "doi": "10.2337/db20-0896",
- "authors": [
- ["Vanessa", "Mhanna"],
- ["Gwladys", "Fourcade"],
- ["Pierre", "Barennes"],
- ["Valentin", "Quiniou"],
- ["Hang P", "Pham"],
- ["Paul-Gydeon", "Ritvo"],
- ["Faustine", "Brimaud"],
- ["Bruno", "Gouritin"],
- ["Guillaume", "Churlaud"],
- ["Adrien", "Six"],
- ["Encarnita", "Mariotti-Ferrandiz"],
- ["David", "Klatzmann"]
- ],
- "publisher": "Diabetes",
- "issn": "1939-327X",
- "date": "2021-01-21",
- "abstract": "Regulatory T cell (Treg) insufficiency licenses the destruction of insulin-producing pancreatic \u03b2-cells by autoreactive effector T cells (Teffs), causing spontaneous autoimmune diabetes in NOD mice. We investigated the contribution to diabetes of the T-cell receptor (TCR) repertoires of naive regulatory T cells (nTregs), activated/memory Tregs (amTregs), and CD4",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33479057"
-},
{
"id": "pmid:33106889",
"manubot_success": true,
@@ -20362,128 +18934,11 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33106889"
},
-{
- "id": "pmid:32923140",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/32923140",
- "title": "Adoptive cell therapy of triple negative breast cancer with redirected cytokine-induced killer cells.",
- "type": "article-journal",
- "doi": "10.1080/2162402x.2020.1777046",
- "authors": [
- ["Roberta", "Sommaggio"],
- ["Elisa", "Cappuzzello"],
- ["Anna", "Dalla Piet\u00e0"],
- ["Anna", "Tosi"],
- ["Pierangela", "Palmerini"],
- ["Debora", "Carpanese"],
- ["Lorenzo", "Nicol\u00e8"],
- ["Antonio", "Rosato"]
- ],
- "publisher": "Oncoimmunology",
- "issn": "2162-4011",
- "date": "2020-06-11",
- "abstract": "Cytokine-Induced Killer (CIK) cells share several functional and phenotypical properties of both T and natural killer (NK) cells. They represent an attractive approach for cell-based immunotherapy, as they do not require antigen-specific priming for tumor cell recognition, and can be rapidly expanded",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32923140"
-},
-{
- "id": "pmid:32910534",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/32910534",
- "title": "TNFSF15 facilitates human umbilical cord blood haematopoietic stem cell expansion by activating Notch signal pathway.",
- "type": "article-journal",
- "doi": "10.1111/jcmm.15626",
- "authors": [
- ["Yahui", "Ding"],
- ["Shan", "Gao"],
- ["Jian", "Shen"],
- ["Tairan", "Bai"],
- ["Ming", "Yang"],
- ["Shiqi", "Xu"],
- ["Yingdai", "Gao"],
- ["Zhisong", "Zhang"],
- ["Luyuan", "Li"]
- ],
- "publisher": "Journal of cellular and molecular medicine",
- "issn": "1582-4934",
- "date": "2020-09-10",
- "abstract": "The lack of efficient ex vivo expansion methods restricts clinical use of haematopoietic stem cells (HSC) for the treatment of haematological malignancies and degenerative diseases. Umbilical cord blood (UCB) serves as an alternative haematopoietic stem cell source. However, currently what limits the use of UCB-derived HSC is the very low numbers of haematopoietic stem and progenitor cells available for transplantation in a single umbilical cord blood unit. Here, we report that TNFSF15, a member of the tumour necrosis factor superfamily, promotes the expansion of human umbilical cord blood (UCB)-derived HSC. TNFSF15-treated UCB-HSC is capable of bone marrow engraftment as demonstrated with NOD/SCID or NOD/Shi-SCID/IL2Rgnull (NOG) mice in both primary and secondary transplantation. The frequency of repopulating cells occurring in the injected tibiae is markedly higher than that in vehicle-treated group. Additionally, signal proteins of the Notch pathway are highly up-regulated in TNFSF15-treated UCB-HSC. These findings indicate that TNFSF15 is useful for in vitro expansion of UCB-HSC for clinical applications. Furthermore, TNFSF15 may be a hopeful selection for further UCB-HSC application or study.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32910534"
-},
-{
- "id": "pmid:32817295",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/32817295",
- "title": "An IL-2 mutein engineered to promote expansion of regulatory T cells arrests ongoing autoimmunity in mice.",
- "type": "article-journal",
- "doi": "10.1126/sciimmunol.aba5264",
- "authors": [
- ["Liliane", "Khoryati"],
- ["Minh Nguyet", "Pham"],
- ["McKenna", "Sherve"],
- ["Swarnima", "Kumari"],
- ["Kevin", "Cook"],
- ["Josh", "Pearson"],
- ["Marika", "Bogdani"],
- ["Daniel J", "Campbell"],
- ["Marc A", "Gavin"]
- ],
- "publisher": "Science immunology",
- "issn": "2470-9468",
- "date": "2020-08-14",
- "abstract": "Interleukin-2 (IL-2) controls the homeostasis and function of regulatory T (T",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32817295"
-},
-{
- "id": "pmid:32720837",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/32720837",
- "title": "ACA Medicaid Expansion Associated With Increased Medicaid Participation and Improved Health Among Near-Elderly: Evidence From the Health and Retirement Study.",
- "type": "article-journal",
- "doi": "10.1177/0046958020935229",
- "authors": [
- ["Melissa", "McInerney"],
- ["Ruth", "Winecoff"],
- ["Padmaja", "Ayyagari"],
- ["Kosali", "Simon"],
- ["M Kate", "Bundorf"]
- ],
- "publisher": "Inquiry : a journal of medical care organization, provision and financing",
- "issn": "1945-7243",
- "date": "2020-01-01",
- "abstract": "The Affordable Care Act (ACA) dramatically expanded health insurance, but questions remain regarding its effects on health. We focus on older adults for whom health insurance has greater potential to improve health and well-being because of their greater health care needs relative to younger adults. We further focus on low-income adults who were the target of the Medicaid expansion. We believe our study provides the first evidence of the health-related effects of ACA Medicaid expansion using the Health and Retirement Study (HRS). Using geo-coded data from 2010 to 2016, we estimate difference-in-differences models, comparing changes in outcomes before and after the Medicaid expansion in treatment and control states among a sample of over 3,000 unique adults aged 50 to 64 with income below 100% of the federal poverty level. The HRS allows us to examine morbidity outcomes not available in administrative data, providing evidence of the mechanisms underlying emerging evidence of mortality reductions due to expanded insurance coverage among the near-elderly. We find that the Medicaid expansion was associated with a 15 percentage point increase in Medicaid coverage which was largely offset by declines in other types of insurance. We find improvements in several measures of health including a 12% reduction in metabolic syndrome; a 32% reduction in complications from metabolic syndrome; an 18% reduction in the likelihood of gross motor skills difficulties; and a 34% reduction in compromised activities of daily living (ADLs). Our results thus suggest that the Medicaid expansion led to improved physical health for low-income, older adults.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32720837"
-},
{
"id": "pmid:32711193",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/32711193",
- "title": "The cerebellar white matter lesions in dentatorubral-pallidoluysian atrophy.",
- "type": "article-journal",
- "doi": "10.1016/j.jns.2020.117040",
- "authors": [
- ["Atsuhiko", "Sugiyama"],
- ["Noriko", "Sato"],
- ["Yukio", "Kimura"],
- ["Hiroyuki", "Fujii"],
- ["Yoko", "Shigemoto"],
- ["Fumio", "Suzuki"],
- ["Zen-Ichi", "Tanei"],
- ["Yuko", "Saito"],
- ["Masayuki", "Sasaki"],
- ["Yuji", "Takahashi"],
- ["Hiroshi", "Matsuda"],
- ["Satoshi", "Kuwabara"]
- ],
- "publisher": "Journal of the neurological sciences",
- "issn": "1878-5883",
- "date": "2020-07-16",
- "abstract": "Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder caused by a CAG nucleotide repeat expansion in atrophin 1. A previous report described cerebellar white matter lesions on magnetic resonance imaging (MRI) in elderly-onset DRPLA patients, but this finding has not been fully investigated in a total population of DRPLA patients, including juvenile or early-adult onset patients. Herein, we attempted to determine the frequency, distribution pattern, and features of the cerebellar white matter lesions in 30 consecutive DRPLA patients. We also assessed the relationships between the cerebellar white matter lesions and clinical parameters and other MRI findings. The cerebellar white matter lesions were found in 43% of the 30 DRPLA patients, and in 70% of the late adult-onset DRPLA patients. In approx. Two-thirds of the patients with cerebellar white matter lesions, the lesions were localized in the paravermal area (paravermal lesions). Multiple logistic regression analyses revealed that the Fazekas grade of 'cerebral' white matter lesions was independently associated with 'cerebellar' white matter lesions. In conclusion, cerebellar white matter lesions are one of the distinctive MRI features in DRPLA patients, especially in patients with older age at onset. Cerebellar white matter lesions, as well as cerebral white matter lesions, might originate from the disease process of DRPLA itself, and they often have a characteristic distribution of paravermal lesions.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32711193"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/32711193",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:32711193']' timed out after 3 seconds"
},
{
"id": "pmid:32675418",
@@ -20517,35 +18972,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32675418"
},
-{
- "id": "pmid:32169893",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/32169893",
- "title": "Microencapsulated G3C Hybridoma Cell Graft Delays the Onset of Spontaneous Diabetes in NOD Mice by an Expansion of Gitr",
- "type": "article-journal",
- "doi": "10.2337/db19-0087",
- "authors": [
- ["Luigi", "Cari"],
- ["Pia", "Montanucci"],
- ["Giuseppe", "Basta"],
- ["Maria G", "Petrillo"],
- ["Erika", "Ricci"],
- ["Teresa", "Pescara"],
- ["Alessia", "Greco"],
- ["Sabrina", "Cipriani"],
- ["Jun", "Shimizu"],
- ["Graziella", "Migliorati"],
- ["Giuseppe", "Nocentini"],
- ["Riccardo", "Calafiore"],
- ["Carlo", "Riccardi"]
- ],
- "publisher": "Diabetes",
- "issn": "1939-327X",
- "date": "2020-03-13",
- "abstract": "As an alternative to lifelong insulin supplementation, potentiation of immune tolerance in patients with type 1 diabetes could prevent the autoimmune destruction of pancreatic islet \u03b2-cells. This study was aimed to assess whether the G3c monoclonal antibody (mAb), which triggers the glucocorticoid-induced TNFR-related (Gitr) costimulatory receptor, promotes the expansion of regulatory T cells (Tregs) in SV129 (wild-type) and diabetic-prone NOD mice. The delivery of the G3c mAb via G3C hybridoma cells enveloped in alginate-based microcapsules (G3C/cps) for 3 weeks induced Foxp3",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32169893"
-},
{
"id": "pmid:32129252",
"manubot_success": true,
@@ -20565,59 +18991,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32129252"
},
-{
- "id": "pmid:31908598",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/31908598",
- "title": "Patient-derived xenografts of different grade gliomas retain the heterogeneous histological and genetic features of human gliomas.",
- "type": "article-journal",
- "doi": "10.1186/s12935-019-1086-5",
- "authors": [
- ["Wenxin", "Zeng"],
- ["Zhaohua", "Tang"],
- ["Yongguo", "Li"],
- ["Guangnian", "Yin"],
- ["Zili", "Liu"],
- ["Jie", "Gao"],
- ["Yan", "Chen"],
- ["Feilan", "Chen"]
- ],
- "publisher": "Cancer cell international",
- "issn": "1475-2867",
- "date": "2020-01-03",
- "abstract": "Gliomas account for the major part of primary brain tumors. Based on their histology and molecular alternations, adult gliomas have been classified into four grades, each with distinct biology and outcome. Previous studies have focused on cell-line-based models and patient-derived xenografts (PDXs) from patient-derived glioma cultures for grade IV glioblastoma. However, the PDX of lower grade diffuse gliomas, particularly those harboring the endogenous IDH mutation, are scarce due to the difficulty growing glioma cells in vitro and in vivo. The purpose of this study was to develop a panel of patient-derived subcutaneous xenografts of different grade gliomas that represented the heterogeneous histopathologic and genetic features of human gliomas.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31908598"
-},
-{
- "id": "pmid:31876388",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/31876388",
- "title": "Poly(ADP-Ribose) Polymerase Enhances Infiltration of Mononuclear Cells in Primary Sj\u00f6gren's Syndrome Through Interferon-Induced Protein With Tetratricopeptide Repeats 1-Mediated Up-Regulation of CXCL10.",
- "type": "article-journal",
- "doi": "10.1002/art.41195",
- "authors": [
- ["Qingqing", "Tian"],
- ["Han", "Zhao"],
- ["Hanzhi", "Ling"],
- ["Li", "Sun"],
- ["Chipeng", "Xiao"],
- ["Guoyu", "Yin"],
- ["Xiaobing", "Wang"],
- ["Gan", "Wu"],
- ["Chenglin", "Yang"],
- ["Mu", "Chen"],
- ["Shengwei", "Jin"],
- ["Xinyu", "Yang"],
- ["Jianguang", "Wang"]
- ],
- "publisher": "Arthritis & rheumatology (Hoboken, N.J.)",
- "issn": "2326-5205",
- "date": "2020-05-02",
- "abstract": "Mononuclear cell infiltration and type I interferon (IFN) system activation play an important role in primary Sj\u00f6gren's syndrome (SS). We undertook this study to investigate the mechanism of poly(ADP-ribose) polymerase family member 9 (PARP-9) on mononuclear cell infiltration triggered by type I IFN.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31876388"
-},
{
"id": "pmid:31493762",
"manubot_success": true,
@@ -20650,30 +19023,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31493762"
},
-{
- "id": "pmid:30936032",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30936032",
- "title": "Association of variants of prodynorphin promoter 68-bp repeats in caucasians with opioid dependence diagnosis: Effect on age trajectory of heroin use.",
- "type": "article-journal",
- "doi": "10.1016/j.neulet.2019.03.038",
- "authors": [
- ["Vadim", "Yuferov"],
- ["Matthew", "Randesi"],
- ["Eduardo R", "Butelman"],
- ["Wim", "van den Brink"],
- ["Peter", "Blanken"],
- ["Jan M", "van Ree"],
- ["J\u00fcrg", "Ott"],
- ["Mary Jeanne", "Kreek"]
- ],
- "publisher": "Neuroscience letters",
- "issn": "1872-7972",
- "date": "2019-03-29",
- "abstract": "The dynorphin/kappa opioid receptor (Dyn/KOR) system is involved in reward processing and dysphoria/anhedonia. Exposure to mu-opioid receptor agonists such as heroin increases expression of the prodynorphin gene (PDYN) in the brain. In this study in a Caucasian cohort, we examined the association of the functional PDYN 68-bp repeat polymorphism with opioid use disorders. In this case-control study, 554 subjects with Caucasian ancestry (142 healthy controls, 153 opioid-exposed, but never opioid dependent, NOD, and 259 with an opioid dependence diagnosis, OD) were examined for association of the PDYN 68-bp repeats with the diagnosis of opioid dependence (DSM-IV criteria), with a dimensional measure of heroin exposure (KMSK scale), and age trajectory parameters of heroin use (age of heroin first use, and age of onset of heaviest use). The PDYN 68-bp repeat genotype (classified as: \"short-short\" [SS], \"long-long\" [LL], and \"short-long\" [SL], based on the number of repeats) was not associated with categorical opioid dependence diagnoses. However, the LL genotype was associated with later age of first heroin use than the SS\u2009+\u2009SL genotype (19 versus 18 years; p\u2009<\u20090.01). This was also confirmed by a significant positive correlation between the number of repeats and the age of first use of heroin, in volunteers with OD (Spearman r\u2009=\u20090.16; p\u2009=\u20090.01). This suggests that the functional PDYN 68-bp repeat genotype is associated with the age of first use of heroin in Caucasians diagnosed with opioid dependence.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30936032"
-},
{
"id": "pmid:30891880",
"manubot_success": true,
@@ -20766,56 +19115,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30827498"
},
-{
- "id": "pmid:30123358",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30123358",
- "title": "Clinicopathological and prognostic significance of leucine-rich repeats and immunoglobulin-like domains protein 1 (LRIG1) in malignant tumors: A meta-analysis.",
- "type": "article-journal",
- "doi": "10.7150/jca.24749",
- "authors": [
- ["Qianqian", "Zhang"],
- ["Wenhua", "Shi"],
- ["Qingting", "Wang"],
- ["Yanting", "Zhu"],
- ["Cui", "Zhai"],
- ["Jian", "Wang"],
- ["Xin", "Yan"],
- ["Limin", "Chai"],
- ["Manxiang", "Li"]
- ],
- "publisher": "Journal of Cancer",
- "issn": "1837-9664",
- "date": "2018-07-30",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30123358"
-},
-{
- "id": "pmid:29802270",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29802270",
- "title": "Treatment of T1D via optimized expansion of antigen-specific Tregs induced by IL-2/anti-IL-2 monoclonal antibody complexes and peptide/MHC tetramers.",
- "type": "article-journal",
- "doi": "10.1038/s41598-018-26161-6",
- "authors": [
- ["Cristina", "Izquierdo"],
- ["Angela Zarama", "Ortiz"],
- ["Maximiliano", "Presa"],
- ["Sara", "Malo"],
- ["Anna", "Montoya"],
- ["Nahir", "Garabatos"],
- ["Conchi", "Mora"],
- ["Joan", "Verdaguer"],
- ["Thomas", "Stratmann"]
- ],
- "publisher": "Scientific reports",
- "issn": "2045-2322",
- "date": "2018-05-25",
- "abstract": "Type 1 diabetes can be overcome by regulatory T cells (Treg) in NOD mice yet an efficient method to generate and maintain antigen-specific Treg is difficult to come by. Here, we devised a combination therapy of peptide/MHC tetramers and IL-2/anti-IL-2 monoclonal antibody complexes to generate antigen-specific Treg and maintain them over extended time periods. We first optimized treatment protocols conceived to obtain an improved islet-specific Treg/effector T cell ratio that led to the in vivo expansion and activation of these Treg as well as to an improved suppressor function. Optimized protocols were applied to treatment for testing diabetes prevention in NOD mice as well as in an accelerated T cell transfer model of T1D. The combined treatment led to robust protection against diabetes, and in the NOD model, to a close to complete prevention of insulitis. Treatment was accompanied with increased secretion of IL-10, detectable in total splenocytes and in Foxp3",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29802270"
-},
{
"id": "pmid:29801887",
"manubot_success": true,
@@ -20861,164 +19160,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29715545"
},
-{
- "id": "pmid:29653142",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29653142",
- "title": "Characterization of a conjunctival melanoma cell line CM-AS16, newly-established from a metastatic Han Chinese patient.",
- "type": "article-journal",
- "doi": "10.1016/j.exer.2018.03.030",
- "authors": [
- ["Yongyun", "Li"],
- ["Qingfeng", "Shang"],
- ["Peng", "Li"],
- ["Jinfeng", "Cao"],
- ["Liqi", "Zhu"],
- ["Martine J", "Jager"],
- ["Xianqun", "Fan"],
- ["Shengfang", "Ge"],
- ["Renbing", "Jia"]
- ],
- "publisher": "Experimental eye research",
- "issn": "1096-0007",
- "date": "2018-04-10",
- "abstract": "Conjunctival melanoma (CM) is associated with metastases formation, can be fatal, and occurs in all different races. While cell lines are essential for experimental research, all available CM cell lines are derived from Caucasian patients. Furthermore, they are not derived from metastases. We aimed to establish a new CM cell line from a parotid metastasis in a Han Chinese patient and to depict its characteristics. The novel cell line, CM-AS16, was obtained from a surgical parotid sample and determined as a unique one with short tandem repeat (STR) analysis. It has been successively sub-cultured in vitro for more than 100 passages and exhibits rapid proliferation and migration. Chromosome analysis shows abundant chromosome aberrations, while whole exome sequencing (WES) reveals a typical NRAS mutation (Q61R). In vivo tumor growth was successfully established in a NOD/SCID mice model, and the immunophenotypes, such as HMB45, Melan A, S100, SOX10 and Ki67, manifested similar between the original tumor and the xenograft by immunohistochemistry. A MEK inhibitor binimetinib prominently suppressed in vitro cell growth by inhibiting ERK1/2 phosphorylation. In addition, monoclonal cells were used to demonstrate the drug sensitivity of different cells. In conclusion, the first cell line, CM-AS16, that is derived from a CM in a Han Chinese patient has highly malignant characteristics and a typical NRAS mutation. It may be used as a tool for further exploration of the molecular mechanisms of CM.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29653142"
-},
-{
- "id": "pmid:29516991",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29516991",
- "title": "Fast recovery of platelet production in NOD/SCID mice after transplantation with",
- "type": "article-journal",
- "doi": "10.4103/0973-1482.193893",
- "authors": [
- ["Hailian", "Wang"],
- ["Wei", "Ge"],
- ["Yong", "Zhuang"],
- ["Jinqiu", "Fu"],
- ["Dong", "Li"],
- ["Xiuli", "Ju"]
- ],
- "publisher": "Journal of cancer research and therapeutics",
- "issn": "1998-4138",
- "date": "2018-01-01",
- "abstract": "Cord blood transplantation (CBT) can be a life-saving procedure in the treatment of a broad variety of disorders, including hematologic, immune, and genetic diseases. However, delayed platelet recovery hinders the application of CBT.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29516991"
-},
-{
- "id": "pmid:29321652",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29321652",
- "title": "Innate IFN-\u03b3 ameliorates experimental autoimmune encephalomyelitis and promotes myeloid expansion and PDL-1 expression.",
- "type": "article-journal",
- "doi": "10.1038/s41598-017-18543-z",
- "authors": [
- ["Madeleine P J", "White"],
- ["Gill", "Webster"],
- ["Faith", "Leonard"],
- ["Anne Camille", "La Flamme"]
- ],
- "publisher": "Scientific reports",
- "issn": "2045-2322",
- "date": "2018-01-10",
- "abstract": "The innate immune system plays a central role in the immune-mediated pathology of multiple sclerosis, and is a therapeutic target for progressive disease. Recently, it has been demonstrated that MIS416, a novel immunomodulatory microparticle that activates NOD-2 and TLR-9-signaling, has disease-modifying activity in multiple sclerosis models. This activity is dependent on innate IFN-\u03b3; however, the precise immune regulatory mechanisms amplified by MIS416 have not previously been determined. Using the experimental autoimmune encephalomyelitis model, MIS416 treatment was associated with IFN-\u03b3-dependant expansion of Treg number and increased suppressive function; however, these cells did not account for disease reduction. Additionally, MIS416 treatment stimulated increased nitric oxide production that was IFN-\u03b3-dependant but dispensable for protection. Finally, MIS416-mediated protection was shown to correlate with IFN-\u03b3-dependant expansion of PDL-1-expressing peripheral myeloid cells, a subset of which was found to be selectively recruited to the brain. This central nervous system trafficking was independent of neuro-inflammatory signals as it occurred in MIS416-treated healthy mice. Together, these findings provide insight into regulatory myeloid cell activities amplified by MIS416-mediated NOD-2 and TLR-9 signalling and highlight the potential importance of these cells in accessing the brain where they may act locally and contribute to the control of neuroinflammation.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29321652"
-},
-{
- "id": "pmid:29281254",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29281254",
- "title": "Structural and Dynamical Characterization of DNA and RNA Quadruplexes Obtained from the GGGGCC and GGGCCT Hexanucleotide Repeats Associated with C9FTD/ALS and SCA36 Diseases.",
- "type": "article-journal",
- "doi": "10.1021/acschemneuro.7b00476",
- "authors": [
- ["Yuan", "Zhang"],
- ["Christopher", "Roland"],
- ["Celeste", "Sagui"]
- ],
- "publisher": "ACS chemical neuroscience",
- "issn": "1948-7193",
- "date": "2018-01-12",
- "abstract": "A (GGGGCC) hexanucleotide repeat (HR) expansion in the C9ORF72 gene has been considered the major cause behind both frontotemporal dementia and amyotrophic lateral sclerosis, while a (GGGCCT) is associated with spinocerebellar ataxia 36. Recent experiments involving NMR, CD, optical melting and 1D",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29281254"
-},
-{
- "id": "pmid:29190385",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29190385",
- "title": "E-motif formed by extrahelical cytosine bases in DNA homoduplexes of trinucleotide and hexanucleotide repeats.",
- "type": "article-journal",
- "doi": "10.1093/nar/gkx1186",
- "authors": [
- ["Feng", "Pan"],
- ["Yuan", "Zhang"],
- ["Viet Hoang", "Man"],
- ["Christopher", "Roland"],
- ["Celeste", "Sagui"]
- ],
- "publisher": "Nucleic acids research",
- "issn": "1362-4962",
- "date": "2018-01-25",
- "abstract": "Atypical DNA secondary structures play an important role in expandable trinucleotide repeat (TR) and hexanucleotide repeat (HR) diseases. The cytosine mismatches in C-rich homoduplexes and hairpin stems are weakly bonded; experiments show that for certain sequences these may flip out of the helix core, forming an unusual structure termed an 'e-motif'. We have performed molecular dynamics simulations of C-rich TR and HR DNA homoduplexes in order to characterize the conformations, stability and dynamics of formation of the e-motif, where the mismatched cytosines symmetrically flip out in the minor groove, pointing their base moieties towards the 5'-direction in each strand. TRs have two non-equivalent reading frames, (GCC)n and (CCG)n; while HRs have three: (CCCGGC)n, (CGGCCC)n, (CCCCGG)n. We define three types of pseudo basepair steps related to the mismatches and show that the e-motif is only stable in (GCC)n and (CCCGGC)n homoduplexes due to the favorable stacking of pseudo GpC steps (whose nature depends on whether TRs or HRs are involved) and the formation of hydrogen bonds between the mismatched cytosine at position i and the cytosine (TRs) or guanine (HRs) at position i - 2 along the same strand. We also characterize the extended e-motif, where all mismatched cytosines are extruded, their extra-helical stacking additionally stabilizing the homoduplexes.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29190385"
-},
-{
- "id": "pmid:29114849",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29114849",
- "title": "Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the U.K. Clinical Practice Research Datalink.",
- "type": "article-journal",
- "doi": "10.1002/ijc.31143",
- "authors": [
- ["Youjin", "Wang"],
- ["Ruth M", "Pfeiffer"],
- ["Rotana", "Alsaggaf"],
- ["Wilhelmine", "Meeraus"],
- ["Julia C", "Gage"],
- ["Lesley A", "Anderson"],
- ["Ren\u00e9e C", "Bremer"],
- ["Nikoletta", "Nikolenko"],
- ["Hanns", "Lochmuller"],
- ["Mark H", "Greene"],
- ["Shahinaz M", "Gadalla"]
- ],
- "publisher": "International journal of cancer",
- "issn": "1097-0215",
- "date": "2017-11-20",
- "abstract": "Myotonic dystrophy type 1 (DM1) is an inherited multisystem neuromuscular disorder caused by a CTG trinucleotide repeat expansion in the DMPK gene. Recent evidence documents that DM1 patients have an increased risk of certain cancers, but whether skin cancer risks are elevated is unclear. Using the U.K. Clinical Practice Research Datalink (CPRD), we identified 1,061 DM1 patients and 15,119 DM1-free individuals matched on gender, birth year (\u00b12 years), attending practice and registration year (\u00b11 year). We calculated the hazard ratios (HRs) and 95% confidence intervals (CIs) for the association of DM1 diagnosis with skin cancer risk using Cox proportional hazards models, for all skin cancers combined and by histological subtype. Follow-up started at the latest of the age at practice registration, DM1 diagnosis/control selection or January 1st 1988, and ended at the earliest of the age at first skin cancer diagnosis, death, transfer out of the practice, last date of data collection or the end of the CPRD record (October 31, 2016). During a median follow-up of 3.6 years, 35 DM1 patients and 108 matched DM1-free individuals developed a skin cancer. DM1 patients had an increased risk of skin cancer overall (HR\u2009=\u20095.44, 95% CI\u2009=\u20093.33-8.89, p\u2009<\u20090.0001), and basal cell carcinoma (BCC) (HR\u2009=\u20095.78, 95% CI\u2009=\u20093.36-9.92, p\u2009<\u20090.0001). Risks did not differ by gender, or age at DM1 diagnosis (p-heterogeneity\u2009>\u20090.5). Our data confirm suggested associations between DM1 and skin neoplasms with the highest risk seen for BCC. Patients are advised to minimize ultraviolet light exposure and seek medical advice for suspicious lesions.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29114849"
-},
-{
- "id": "pmid:29023488",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29023488",
- "title": "Transgenic expression of human cytokines in immunodeficient mice does not facilitate myeloid expansion of BCR-ABL1 transduced human cord blood cells.",
- "type": "article-journal",
- "doi": "10.1371/journal.pone.0186035",
- "authors": [
- ["Maria", "Askmyr"],
- ["Sofia", "von Palffy"],
- ["Nils", "Hansen"],
- ["Niklas", "Landberg"],
- ["Carl", "H\u00f6gberg"],
- ["Marianne", "Rissler"],
- ["Helena", "\u00c5gerstam"],
- ["Thoas", "Fioretos"]
- ],
- "publisher": "PloS one",
- "issn": "1932-6203",
- "date": "2017-10-12",
- "abstract": "Several attempts have been made to model chronic myeloid leukemia (CML) in a xenograft setting but expansion of human myeloid cells in immunodeficient mice has proven difficult to achieve. Lack of cross-reacting cytokines in the microenvironment of the mice has been proposed as a potential reason. In this study we have used NOD/SCID IL2-receptor gamma deficient mice expressing human SCF, IL-3 and GM-CSF (NSGS mice), that should be superior in supporting human, and particularly, myeloid cell engraftment, to expand BCR-ABL1 expressing human cells in order to model CML. NSGS mice transplanted with BCR-ABL1 expressing cells became anemic and had to be sacrificed due to illness, however, this was not accompanied by an expansion of human myeloid cells but rather we observed a massive expansion of human T-cells and macrophages/histiocytes. Importantly, control human cells without BCR-ABL1 expression elicited a similar reaction, although with a slight delay of disease induction, suggesting that while BCR-ABL1 contributes to the inflammatory reaction, the presence of normal human hematopoietic cells is detrimental for NSGS mice.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29023488"
-},
{
"id": "pmid:28782341",
"manubot_success": true,
@@ -21045,56 +19186,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28782341"
},
-{
- "id": "pmid:28461573",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/28461573",
- "title": "Genetic and Small Molecule Disruption of the AID/RAD51 Axis Similarly Protects Nonobese Diabetic Mice from Type 1 Diabetes through Expansion of Regulatory B Lymphocytes.",
- "type": "article-journal",
- "doi": "10.4049/jimmunol.1700024",
- "authors": [
- ["Jeremy J", "Ratiu"],
- ["Jeremy J", "Racine"],
- ["Muneer G", "Hasham"],
- ["Qiming", "Wang"],
- ["Jane A", "Branca"],
- ["Harold D", "Chapman"],
- ["Jing", "Zhu"],
- ["Nina", "Donghia"],
- ["Vivek", "Philip"],
- ["William H", "Schott"],
- ["Clive", "Wasserfall"],
- ["Mark A", "Atkinson"],
- ["Kevin D", "Mills"],
- ["Caroline M", "Leeth"],
- ["David V", "Serreze"]
- ],
- "publisher": "Journal of immunology (Baltimore, Md. : 1950)",
- "issn": "1550-6606",
- "date": "2017-05-01",
- "abstract": "B lymphocytes play a key role in type 1 diabetes (T1D) development by serving as a subset of APCs preferentially supporting the expansion of autoreactive pathogenic T cells. As a result of their pathogenic importance, B lymphocyte-targeted therapies have received considerable interest as potential T1D interventions. Unfortunately, the B lymphocyte-directed T1D interventions tested to date failed to halt \u03b2 cell demise. IgG autoantibodies marking humans at future risk for T1D indicate that B lymphocytes producing them have undergone the affinity-maturation processes of class switch recombination and, possibly, somatic hypermutation. This study found that CRISPR/Cas9-mediated ablation of the activation-induced cytidine deaminase gene required for class switch recombination/somatic hypermutation induction inhibits T1D development in the NOD mouse model. The activation-induced cytidine deaminase protein induces genome-wide DNA breaks that, if not repaired through RAD51-mediated homologous recombination, result in B lymphocyte death. Treatment with the RAD51 inhibitor 4,4'-diisothiocyanatostilbene-2, 2'-disulfonic acid also strongly inhibited T1D development in NOD mice. The genetic and small molecule-targeting approaches expanded CD73",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28461573"
-},
-{
- "id": "pmid:27933757",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27933757",
- "title": "Structure and Dynamics of DNA and RNA Double Helices Obtained from the GGGGCC and CCCCGG Hexanucleotide Repeats That Are the Hallmark of C9FTD/ALS Diseases.",
- "type": "article-journal",
- "doi": "10.1021/acschemneuro.6b00348",
- "authors": [
- ["Yuan", "Zhang"],
- ["Christopher", "Roland"],
- ["Celeste", "Sagui"]
- ],
- "publisher": "ACS chemical neuroscience",
- "issn": "1948-7193",
- "date": "2016-12-19",
- "abstract": "A (GGGGCC) hexanucleotide repeat (HR) expansion in the C9ORF72 gene, and its associated antisense (CCCCGG) expansion, are considered the major cause behind frontotemporal dementia and amyotrophic lateral sclerosis. We have performed molecular dynamics simulations to characterize the conformation and dynamics of the 12 duplexes that result from the three different reading frames in sense and antisense HRs for both DNA and RNA. These duplexes display atypical structures relevant not only for a molecular level understanding of these diseases but also for enlarging the repertoire of nucleic-acid structural motifs. G-rich helices share common features. The inner G-G mismatches stay inside the helix in G",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27933757"
-},
{
"id": "pmid:27896316",
"manubot_success": true,
@@ -21120,63 +19211,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27896316"
},
-{
- "id": "pmid:27765075",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27765075",
- "title": "Ex-vivo expansion of nonhuman primate CD34",
- "type": "article-journal",
- "doi": "10.1186/s13287-016-0413-1",
- "authors": [
- ["Bin", "Shen"],
- ["Yu", "Zhang"],
- ["Wei", "Dai"],
- ["Yupo", "Ma"],
- ["Yongping", "Jiang"]
- ],
- "publisher": "Stem cell research & therapy",
- "issn": "1757-6512",
- "date": "2016-10-20",
- "abstract": "Hematopoietic CD34",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27765075"
-},
-{
- "id": "pmid:27663272",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27663272",
- "title": "C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis.",
- "type": "article-journal",
- "doi": "10.1136/jnnp-2016-314093",
- "authors": [
- ["James", "Rooney"],
- ["Isabella", "Fogh"],
- ["Henk-Jan", "Westeneng"],
- ["Alice", "Vajda"],
- ["Russell", "McLaughlin"],
- ["Mark", "Heverin"],
- ["Ashley", "Jones"],
- ["Ruben", "van Eijk"],
- ["Andrea", "Calvo"],
- ["Letizia", "Mazzini"],
- ["Christopher", "Shaw"],
- ["Karen", "Morrison"],
- ["Pamela J", "Shaw"],
- ["Wim", "Robberecht"],
- ["Phillip", "Van Damme"],
- ["Ammar", "Al-Chalabi"],
- ["Leonard", "van den Berg"],
- ["Adriano", "Chi\u00f2"],
- ["Jan", "Veldink"],
- ["Orla", "Hardiman"]
- ],
- "publisher": "Journal of neurology, neurosurgery, and psychiatry",
- "issn": "1468-330X",
- "date": "2016-09-23",
- "abstract": "The",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27663272"
-},
{
"id": "pmid:27400454",
"manubot_success": true,
@@ -21208,51 +19242,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27400454"
},
-{
- "id": "pmid:27271685",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27271685",
- "title": "Folding Landscape of Mutant Huntingtin Exon1: Diffusible Multimers, Oligomers and Fibrils, and No Detectable Monomer.",
- "type": "article-journal",
- "doi": "10.1371/journal.pone.0155747",
- "authors": [
- ["Bankanidhi", "Sahoo"],
- ["Irene", "Arduini"],
- ["Kenneth W", "Drombosky"],
- ["Ravindra", "Kodali"],
- ["Laurie H", "Sanders"],
- ["J Timothy", "Greenamyre"],
- ["Ronald", "Wetzel"]
- ],
- "publisher": "PloS one",
- "issn": "1932-6203",
- "date": "2016-06-06",
- "abstract": "Expansion of the polyglutamine (polyQ) track of the Huntingtin (HTT) protein above 36 is associated with a sharply enhanced risk of Huntington's disease (HD). Although there is general agreement that HTT toxicity resides primarily in N-terminal fragments such as the HTT exon1 protein, there is no consensus on the nature of the physical states of HTT exon1 that are induced by polyQ expansion, nor on which of these states might be responsible for toxicity. One hypothesis is that polyQ expansion induces an alternative, toxic conformation in the HTT exon1 monomer. Alternative hypotheses posit that the toxic species is one of several possible aggregated states. Defining the nature of the toxic species is particularly challenging because of facile interconversion between physical states as well as challenges to identifying these states, especially in vivo. Here we describe the use of fluorescence correlation spectroscopy (FCS) to characterize the detailed time and repeat length dependent self-association of HTT exon1-like fragments both with chemically synthesized peptides in vitro and with cell-produced proteins in extracts and in living cells. We find that, in vitro, mutant HTT exon1 peptides engage in polyQ repeat length dependent dimer and tetramer formation, followed by time dependent formation of diffusible spherical and fibrillar oligomers and finally by larger, sedimentable amyloid fibrils. For expanded polyQ HTT exon1 expressed in PC12 cells, monomers are absent, with tetramers being the smallest molecular form detected, followed in the incubation time course by small, diffusible aggregates at 6-9 hours and larger, sedimentable aggregates that begin to build up at 12 hrs. In these cell cultures, significant nuclear DNA damage appears by 6 hours, followed at later times by caspase 3 induction, mitochondrial dysfunction, and cell death. Our data thus defines limits on the sizes and concentrations of different physical states of HTT exon1 along the reaction profile in the context of emerging cellular distress. The data provide some new candidates for the toxic species and some new reservations about more well-established candidates. Compared to other known markers of HTT toxicity, nuclear DNA damage appears to be a relatively early pathological event.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27271685"
-},
-{
- "id": "pmid:26857234",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/26857234",
- "title": "Endothelial progenitor cells promote efficient ex vivo expansion of cord blood-derived hematopoietic stem/progenitor cells.",
- "type": "article-journal",
- "doi": "10.1016/j.jcyt.2015.12.005",
- "authors": [
- ["Qi", "Qu"],
- ["Limin", "Liu"],
- ["Guanghua", "Chen"],
- ["Yang", "Xu"],
- ["Xiaojin", "Wu"],
- ["Depei", "Wu"]
- ],
- "publisher": "Cytotherapy",
- "issn": "1477-2566",
- "date": "2016-03-01",
- "abstract": "Cord blood (CB) hematopoietic stem cell transplantation has often been limited by the scarcity of stem cells. Therefore, the number of CB hematopoietic stem/progenitor cells (HSPCs) should be increased while maintaining the stem cell characteristics.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26857234"
-},
{
"id": "pmid:26374734",
"manubot_success": true,
@@ -21278,27 +19267,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26374734"
},
-{
- "id": "pmid:26261008",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/26261008",
- "title": "Prostaglandin E2 Promotes Colorectal Cancer Stem Cell Expansion and Metastasis in Mice.",
- "type": "article-journal",
- "doi": "10.1053/j.gastro.2015.07.064",
- "authors": [
- ["Dingzhi", "Wang"],
- ["Lingchen", "Fu"],
- ["Haiyan", "Sun"],
- ["Lixia", "Guo"],
- ["Raymond N", "DuBois"]
- ],
- "publisher": "Gastroenterology",
- "issn": "1528-0012",
- "date": "2015-08-07",
- "abstract": "Inflammation may contribute to the formation, maintenance, and expansion of cancer stem cells (CSCs), which have the capacity for self-renewal, differentiation, and resistance to cytotoxic agents. We investigated the effects of the inflammatory mediator prostaglandin E2 (PGE2) on colorectal CSC development and metastasis in mice and the correlation between levels of PGE2 and CSC markers in human colorectal cancer (CRC) specimens.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26261008"
-},
{
"id": "pmid:26077168",
"manubot_success": true,
@@ -21320,28 +19288,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26077168"
},
-{
- "id": "pmid:26025397",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/26025397",
- "title": "Importance of CD44 on umbilical cord mesenchymal stem cells for expansion of hematopoietic cells.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["Y J", "Zhang"],
- ["Y X", "Yang"],
- ["M Y", "Hu"],
- ["Q K", "Ni"],
- ["H G", "Li"],
- ["Z C", "Miao"]
- ],
- "publisher": "Cellular and molecular biology (Noisy-le-Grand, France)",
- "issn": "1165-158X",
- "date": "2015-05-08",
- "abstract": "Human umbilical cord mesenchymal stem cells (hUCMSCs) have important functions on the expansion of hematopoietic stem cells (HSCs) through providing the essential microenvironment for hematopoiesis. In order to test whether CD44 on hUCMSCs could have a key function for the ability of hUCMSCs to expand human HSCs, the soluble anti—CD44 antibody was added to the co—cultures of hUCMSCs and cord blood (CB) CD34+ cells, which blocked the ability of hUCMSCs to expand CB CD34+ cells significantly. Long—term culture initiating cell (LTC—IC) assay revealed that the ability of multipotent differentiation of CB CD34+ cells co—cultured with CD44 knockdown hUCMSCs could only retain lasting at most for 5 weeks in vitro. In vivo assay, based on non—obese diabetic/severe combined immunodeficient disease (NOD/SCID) mice, revealed that the hematopoietic reconstitution potential of CB CD34+ cells co—cultured with CD44 knockdown hUCMSCs is significantly reduced. The hematopoietic supporting ability of hUCMSCs in vivo and in vitro is reduced upon the knockdown of CD44. CD44 has important functions on the ability of hUCMSCs to expand human HSCs in the cell— extrinsic control.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26025397"
-},
{
"id": "pmid:25842919",
"manubot_success": true,
@@ -21363,87 +19309,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25842919"
},
-{
- "id": "pmid:25724840",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/25724840",
- "title": "siRNA silencing of PD-1 ligands on dendritic cell vaccines boosts the expansion of minor histocompatibility antigen-specific CD8(+) T cells in NOD/SCID/IL2Rg(null) mice.",
- "type": "article-journal",
- "doi": "10.1007/s00262-015-1668-6",
- "authors": [
- ["Anniek B", "van der Waart"],
- ["Hanny", "Fredrix"],
- ["Robbert", "van der Voort"],
- ["Nicolaas", "Schaap"],
- ["Willemijn", "Hobo"],
- ["Harry", "Dolstra"]
- ],
- "publisher": "Cancer immunology, immunotherapy : CII",
- "issn": "1432-0851",
- "date": "2015-02-28",
- "abstract": "Allogeneic stem cell transplantation (allo-SCT) can be a curative therapy for patients suffering from hematological malignancies. The therapeutic efficacy is based on donor-derived CD8(+) T cells that recognize minor histocompatibility antigens (MiHAs) expressed by patient's tumor cells. However, these responses are not always sufficient, and persistence and recurrence of the malignant disease are often observed. Therefore, application of additive therapy targeting hematopoietic-restricted MiHAs is essential. Adoptive transfer of MiHA-specific CD8(+) T cells in combination with dendritic cell (DC) vaccination could be a promising strategy. Though effects of DC vaccination in anti-cancer therapy have been demonstrated, improvement in DC vaccination therapy is needed, as clinical responses are limited. In this study, we investigated the potency of program death ligand (PD-L) 1 and 2 silenced DC vaccines for ex vivo priming and in vivo boosting of MiHA-specific CD8(+) T cell responses. Co-culturing CD8(+) T cells with MiHA-loaded DCs resulted in priming and expansion of functional MiHA-specific CD8(+) T cells from the naive repertoire, which was augmented upon silencing of PD-L1 and PD-L2. Furthermore, DC vaccination supported and expanded adoptively transferred antigen-specific CD8(+) T cells in vivo. Importantly, the use of PD-L silenced DCs improved boosting and further expansion of ex vivo primed MiHA-specific CD8(+) T cells in immunodeficient mice. In conclusion, adoptive transfer of ex vivo primed MiHA-specific CD8(+) T cells in combination with PD-L silenced DC vaccination, targeting MiHAs restricted to the hematopoietic system, is an interesting approach to boost GVT immunity in allo-SCT patients and thereby prevent relapse.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25724840"
-},
-{
- "id": "pmid:25644184",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/25644184",
- "title": "Characterization of a novel radiation-induced sarcoma cell line.",
- "type": "article-journal",
- "doi": "10.1002/jso.23860",
- "authors": [
- ["Julie", "Lang"],
- ["Weizhu", "Zhu"],
- ["Brandon", "Nokes"],
- ["Grishma", "Sheth"],
- ["Petr", "Novak"],
- ["Laura", "Fuchs"],
- ["George", "Watts"],
- ["Bernard", "Futscher"],
- ["Neal", "Mineyev"],
- ["Alexander", "Ring"],
- ["Lauren", "LeBeau"],
- ["Ray", "Nagle"],
- ["Lee", "Cranmer"]
- ],
- "publisher": "Journal of surgical oncology",
- "issn": "1096-9098",
- "date": "2015-02-02",
- "abstract": "Radiation-induced sarcoma (RIS) is a potential complication of cancer treatment. No widely available cell line models exist to facilitate studies of RIS.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25644184"
-},
-{
- "id": "pmid:25501026",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/25501026",
- "title": "Modeling chronic myeloid leukemia in immunodeficient mice reveals expansion of aberrant mast cells and accumulation of pre-B cells.",
- "type": "article-journal",
- "doi": "10.1038/bcj.2014.89",
- "authors": [
- ["M", "Askmyr"],
- ["H", "\u00c5gerstam"],
- ["H", "Lilljebj\u00f6rn"],
- ["N", "Hansen"],
- ["C", "Karlsson"],
- ["S", "von Palffy"],
- ["N", "Landberg"],
- ["C", "H\u00f6gberg"],
- ["C", "Lassen"],
- ["M", "Rissler"],
- ["J", "Richter"],
- ["M", "Ehinger"],
- ["M", "J\u00e4r\u00e5s"],
- ["T", "Fioretos"]
- ],
- "publisher": "Blood cancer journal",
- "issn": "2044-5385",
- "date": "2014-12-12",
- "abstract": "Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm that, if not treated, will progress into blast crisis (BC) of either myeloid or B lymphoid phenotype. The BCR-ABL1 fusion gene, encoding a constitutively active tyrosine kinase, is thought to be sufficient to cause chronic phase (CP) CML, whereas additional genetic lesions are needed for progression into CML BC. To generate a humanized CML model, we retrovirally expressed BCR-ABL1 in the cord blood CD34(+) cells and transplanted these into NOD-SCID (non-obese diabetic/severe-combined immunodeficient) interleukin-2-receptor \u03b3-deficient mice. In primary mice, BCR-ABL1 expression induced an inflammatory-like state in the bone marrow and spleen, and mast cells were the only myeloid lineage specifically expanded by BCR-ABL1. Upon secondary transplantation, the pronounced inflammatory phenotype was lost and mainly human mast cells and macrophages were found in the bone marrow. Moreover, a striking block at the pre-B-cell stage was observed in primary mice, resulting in an accumulation of pre-B cells. A similar block in B-cell differentiation could be confirmed in primary cells from CML patients. Hence, this humanized mouse model of CML reveals previously unexplored features of CP CML and should be useful for further studies to understand the disease pathogenesis of CML.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25501026"
-},
{
"id": "pmid:25466696",
"manubot_success": true,
@@ -21466,178 +19331,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25466696"
},
-{
- "id": "pmid:25463432",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/25463432",
- "title": "IL-10 exacerbates xenogeneic GVHD by inducing massive human T cell expansion.",
- "type": "article-journal",
- "doi": "10.1016/j.clim.2014.11.004",
- "authors": [
- ["Sojan", "Abraham"],
- ["Jang-gi", "Choi"],
- ["Chunting", "Ye"],
- ["N", "Manjunath"],
- ["Premlata", "Shankar"]
- ],
- "publisher": "Clinical immunology (Orlando, Fla.)",
- "issn": "1521-7035",
- "date": "2014-11-15",
- "abstract": "Although patients with GVHD have elevated serum levels of IL10, whether its role is protective or pathogenic remains unclear. Here, we used a humanized mouse model to study the role of IL-10 in GVHD. When human PBMCs were engrafted in NOD-scid IL2r\u03b3c(null) mice expressing human IL-10, the T cells underwent massive expansion resulting in lethality by day 21, whereas control mice survived for at least 40 days. Histopathology of the liver showed extensive mononuclear cell infiltration in IL-10 expressing but not in control mice. Corresponding to their aggressiveness, the T cells in the IL-10 group exhibited predominantly an effector memory phenotype (CD45RO(+)CD27(-)) while in control mice, the T cells were of transitional memory phenotype (CD45RO(+)CD27(+)). Further, IL-10 receptor blocking antibody was able to protect the animals from GVHD. Since our results demonstrate a direct pathogenic role for IL-10, blockade of IL-10 signaling may provide a therapeutic option for GVHD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25463432"
-},
-{
- "id": "pmid:25267972",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/25267972",
- "title": "A novel method using blinatumomab for efficient, clinical-grade expansion of polyclonal T cells for adoptive immunotherapy.",
- "type": "article-journal",
- "doi": "10.4049/jimmunol.1401550",
- "authors": [
- ["Jos\u00e9e", "Golay"],
- ["Anna", "D'Amico"],
- ["Gianmaria", "Borleri"],
- ["Michela", "Bonzi"],
- ["Rut", "Valgardsdottir"],
- ["Rachele", "Alzani"],
- ["Sabrina", "Cribioli"],
- ["Clara", "Albanese"],
- ["Enrico", "Pesenti"],
- ["Maria Chiara", "Finazzi"],
- ["Giulia", "Quaresmini"],
- ["Dirk", "Nagorsen"],
- ["Martino", "Introna"],
- ["Alessandro", "Rambaldi"]
- ],
- "publisher": "Journal of immunology (Baltimore, Md. : 1950)",
- "issn": "1550-6606",
- "date": "2014-09-29",
- "abstract": "Current treatment of chronic lymphocytic leukemia (CLL) patients often results in life-threatening immunosuppression. Furthermore, CLL is still an incurable disease due to the persistence of residual leukemic cells. These patients may therefore benefit from immunotherapy approaches aimed at immunoreconstitution and/or the elimination of residual disease following chemotherapy. For these purposes, we designed a simple GMP-compliant protocol for ex vivo expansion of normal T cells from CLL patients' peripheral blood for adoptive therapy, using bispecific Ab blinatumomab (CD3 \u00d7 CD19), acting both as T cell stimulator and CLL depletion agent, and human rIL-2. Starting from only 10 ml CLL peripheral blood, a mean 515 \u00d7 10(6) CD3(+) T cells were expanded in 3 wk. The resulting blinatumomab-expanded T cells (BET) were polyclonal CD4(+) and CD8(+) and mostly effector and central memory cells. The Th1 subset was slightly prevalent over Th2, whereas Th17 and T regulatory cells were <1%. CMV-specific clones were detected in equivalent proportion before and after expansion. Interestingly, BET cells had normalized expression of the synapse inhibitors CD272 and CD279 compared with starting T cells and were cytotoxic against CD19(+) targets in presence of blinatumomab in vitro. In support of their functional capacity, we observed that BET, in combination with blinatumomab, had significant therapeutic activity in a systemic human diffuse large B lymphoma model in NOD-SCID mice. We propose BET as a therapeutic tool for immunoreconstitution of heavily immunosuppressed CLL patients and, in combination with bispecific Ab, as antitumor immunotherapy.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25267972"
-},
-{
- "id": "pmid:25189159",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/25189159",
- "title": "Large-scale expansion of \u03b3\u03b4 T cells and peptide-specific cytotoxic T cells using zoledronate for adoptive immunotherapy.",
- "type": "article-journal",
- "doi": "10.3892/ijo.2014.2634",
- "authors": [
- ["Toshiaki", "Yoshikawa"],
- ["Masashi", "Takahara"],
- ["Mai", "Tomiyama"],
- ["Mie", "Nieda"],
- ["Ryuji", "Maekawa"],
- ["Tetsuya", "Nakatsura"]
- ],
- "publisher": "International journal of oncology",
- "issn": "1791-2423",
- "date": "2014-09-03",
- "abstract": "Specific cellular immunotherapy for cancer requires efficient generation and expansion of cytotoxic T lymphocytes (CTLs) that recognize tumor-associated antigens. However, it is difficult to isolate and expand functionally active T-cells ex vivo. In this study, we investigated the efficacy of a new method to induce expansion of antigen-specific CTLs for adoptive immunotherapy. We used tumor-associated antigen glypican-3 (GPC3)-derived peptide and cytomegalovirus (CMV)-derived peptide as antigens. Treatment of human peripheral blood mononuclear cells (PBMCs) with zoledronate is a method that enables large-scale \u03b3\u03b4 T-cell expansion. To induce expansion of \u03b3\u03b4 T cells and antigen-specific CTLs, the PBMCs of healthy volunteers or patients vaccinated with GPC3 peptide were cultured with both peptide and zoledronate for 14 days. The expansion of \u03b3\u03b4 T cells and peptide-specific CTLs from a few PBMCs using zoledronate yields cell numbers sufficient for adoptive transfer. The rate of increase of GPC3\u2011specific CTLs was approximately 24- to 170,000-fold. These CD8(+) cells, including CTLs, showed GPC3-specific cytotoxicity against SK-Hep-1/hGPC3 and T2 pulsed with GPC3 peptide, but not against SK-Hep-1/vec and T2 pulsed with human immunodeficiency virus peptide. On the other hand, CD8(-) cells, including \u03b3\u03b4 T cells, showed cytotoxicity against SK-Hep-1/hGPC3 and SK-Hep-1/vec, but did not show GPC3 specificity. Furthermore, adoptive cell transfer of CD8(+) cells, CD8(-) cells, and total cells after expansion significantly inhibited tumor growth in an NOD/SCID mouse model. This study indicates that simultaneous expansion of \u03b3\u03b4 T cells and peptide-specific CTLs using zoledronate is useful for adoptive immunotherapy.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25189159"
-},
-{
- "id": "pmid:25181692",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/25181692",
- "title": "Tumor-associated macrophages produce interleukin 6 and signal via STAT3 to promote expansion of human hepatocellular carcinoma stem cells.",
- "type": "article-journal",
- "doi": "10.1053/j.gastro.2014.08.039",
- "authors": [
- ["Shanshan", "Wan"],
- ["Ende", "Zhao"],
- ["Ilona", "Kryczek"],
- ["Linda", "Vatan"],
- ["Anna", "Sadovskaya"],
- ["Gregory", "Ludema"],
- ["Diane M", "Simeone"],
- ["Weiping", "Zou"],
- ["Theodore H", "Welling"]
- ],
- "publisher": "Gastroenterology",
- "issn": "1528-0012",
- "date": "2014-08-30",
- "abstract": "Cancer stem cells (CSCs) can contribute to hepatocellular carcinoma (HCC) progression and recurrence after therapy. The presence of tumor-associated macrophages (TAMs) in patients with HCC is associated with poor outcomes. It is not clear whether TAMs interact with CSCs during HCC development. We investigated whether TAMs affect the activities of CSCs in the microenvironment of human HCCs.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25181692"
-},
-{
- "id": "pmid:25157497",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/25157497",
- "title": "Oral administration of recombinant Lactococcus lactis expressing HSP65 and tandemly repeated P277 reduces the incidence of type I diabetes in non-obese diabetic mice.",
- "type": "article-journal",
- "doi": "10.1371/journal.pone.0105701",
- "authors": [
- ["Yanjun", "Ma"],
- ["Jingjing", "Liu"],
- ["Jing", "Hou"],
- ["Yuankai", "Dong"],
- ["Yong", "Lu"],
- ["Liang", "Jin"],
- ["Rongyue", "Cao"],
- ["Taiming", "Li"],
- ["Jie", "Wu"]
- ],
- "publisher": "PloS one",
- "issn": "1932-6203",
- "date": "2014-08-26",
- "abstract": "Diabetes mellitus type 1 (DM1) is an autoimmune disease that gradually destroys insulin-producing beta-cells. We have previously reported that mucosal administration of fusion protein of HSP65 with tandem repeats of P277 (HSP65-6P277) can reduce the onset of DM1 in non-obese diabetic (NOD) mice. To deliver large amounts of the fusion protein and to enhance long-term immune tolerance effects, in the present study, we investigated the efficacy of using orally administrated L. lactis expressing HSP65-6P277 to reduce the incidence of DM1 in NOD mice. L. lactis strain NZ9000 was engineered to express HSP65-6P277 either constitutively or by nisin induction. After immunization via gavage with the recombinant L. lactis strains to groups of 4-week old female NOD mice for 36 weeks, we observed that oral administration of recombinant L. Lactis resulted in the prevention of hyperglycemia, improved glucose tolerance and reduced insulitis. Immunologic analysis showed that treatment with recombinant L. lactis induced HSP65- and P277- specific T cell immuno-tolerance, as well as antigen-specific proliferation of splenocytes. The results revealed that the DM1-preventing function was in part caused by a reduction in the pro-inflammatory cytokine IFN-\u03b3 and an increase in the anti-inflammatory cytokine IL-10. Orally administered recombinant L. lactis delivering HSP65-6P277 may be an effective therapeutic approach in preventing DM1.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25157497"
-},
-{
- "id": "pmid:25062630",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/25062630",
- "title": "Ex vivo assays to study self-renewal, long-term expansion, and leukemic transformation of genetically modified human hematopoietic and patient-derived leukemic stem cells.",
- "type": "article-journal",
- "doi": "10.1007/978-1-4939-1133-2_13",
- "authors": [
- ["Pallavi", "Sontakke"],
- ["Marco", "Carretta"],
- ["Marta", "Capala"],
- ["Hein", "Schepers"],
- ["Jan Jacob", "Schuringa"]
- ],
- "publisher": "Methods in molecular biology (Clifton, N.J.)",
- "issn": "1940-6029",
- "date": "2014-01-01",
- "abstract": "With the emergence of the concept of the leukemic stem cell (LSC), assays to study them remain pivotal in understanding (leukemic) stem cell biology. Although the in vivo NOD-SCID or NSG xenotransplantation model is currently still the favored assay of choice in most cases, this system has some limitations as well such as its cost-effectiveness, duration, and lack of engraftability of cells from some acute myeloid leukemia (AML) patients. Here, we describe in vitro assays in which long-term expansion and self-renewal of LSCs isolated from AML patients can be evaluated. We have optimized lentiviral transduction procedures in order to stably express genes of interest or stably downmodulate genes using RNAi in primary AML cells, and these approaches are described in detail here. Also, we describe bone marrow stromal coculture systems in which cobblestone area-forming cell activity, self-renewal, long-term expansion, and in vitro myeloid or lymphoid transformation can be evaluated in human CD34(+) cells of fetal or adult origin that are engineered to express oncogenes. Together, these tools should allow a further molecular elucidation of derailed signal transduction in LSCs.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25062630"
-},
-{
- "id": "pmid:25002260",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/25002260",
- "title": "Retention of stemness and vasculogenic potential of human umbilical cord blood stem cells after repeated expansions on PES-nanofiber matrices.",
- "type": "article-journal",
- "doi": "10.1016/j.biomaterials.2014.06.037",
- "authors": [
- ["Matthew", "Joseph"],
- ["Manjusri", "Das"],
- ["Suman", "Kanji"],
- ["Jingwei", "Lu"],
- ["Reeva", "Aggarwal"],
- ["Debanjan", "Chakroborty"],
- ["Chandrani", "Sarkar"],
- ["Hongmei", "Yu"],
- ["Hai-Quan", "Mao"],
- ["Sujit", "Basu"],
- ["Vincent J", "Pompili"],
- ["Hiranmoy", "Das"]
- ],
- "publisher": "Biomaterials",
- "issn": "1878-5905",
- "date": "2014-07-04",
- "abstract": "Despite recent advances in cardiovascular medicine, ischemic diseases remain a major cause of morbidity and mortality. Although stem cell-based therapies for the treatment of ischemic diseases show great promise, limited availability of biologically functional stem cells mired the application of stem cell-based therapies. Previously, we reported a PES-nanofiber based ex vivo stem cell expansion technology, which supports expansion of human umbilical cord blood (UCB)-derived CD133(+)/CD34(+) progenitor cells \u223c225 fold. Herein, we show that using similar technology and subsequent re-expansion methods, we can achieve \u223c5 million-fold yields within 24 days of the initial seeding. Interestingly, stem cell phenotype was preserved during the course of the multiple expansions. The high level of the stem cell homing receptor, CXCR4 was expressed in the primary expansion cells, and was maintained throughout the course of re-expansions. In addition, re-expanded cells preserved their multi-potential differential capabilities in vitro, such as, endothelial and smooth muscle lineages. Moreover, biological functionality of the re-expanded cells was preserved and was confirmed by a murine hind limb ischemia model for revascularization. These cells could also be genetically modified for enhanced vasculogenesis. Immunohistochemical evidences support enhanced expression of angiogenic factors responsible for this enhanced neovascularization. These data further confirms that nanofiber-based ex-vivo expansion technology can generate sufficient numbers of biologically functional stem cells for potential clinical applications.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25002260"
-},
{
"id": "pmid:24972706",
"manubot_success": true,
@@ -21686,34 +19379,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24972706"
},
-{
- "id": "pmid:24576619",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/24576619",
- "title": "Sustained stimulation and expansion of Tregs by IL2 control autoimmunity without impairing immune responses to infection, vaccination and cancer.",
- "type": "article-journal",
- "doi": "10.1016/j.clim.2014.02.003",
- "authors": [
- ["Guillaume", "Churlaud"],
- ["Veronica", "Jimenez"],
- ["Jesus", "Ruberte"],
- ["Martin", "Amadoudji Zin"],
- ["Gwladys", "Fourcade"],
- ["Gaelle", "Gottrand"],
- ["Estefania", "Casana"],
- ["Benedicte", "Lambrecht"],
- ["Bertrand", "Bellier"],
- ["Eliane", "Piaggio"],
- ["Fatima", "Bosch"],
- ["David", "Klatzmann"]
- ],
- "publisher": "Clinical immunology (Orlando, Fla.)",
- "issn": "1521-7035",
- "date": "2014-02-19",
- "abstract": "Interleukin 2 (IL2) is the key cytokine supporting survival and function of regulatory T cells (Tregs). We recently reported that low-dose IL2 safely expands/stimulates Tregs and improves autoimmune conditions in humans. Further development of IL2 in autoimmune diseases will require chronic IL2 administration, which could affect beneficial effector immune responses regulated by Tregs. We used recombinant adeno-associated viral vector (rAAV)-mediated gene transfer to continuously release IL2 in mice and assessed its long-term effects on immune responses. A single rAAV-IL2 injection enabled sustained stimulation and expansion of Tregs without inducing Teff activation and prevented diabetes in NOD mice. After several weeks of IL2 production, mice responded normally to a viral challenge and to vaccination, and had pregnancies with offspring that developed normally. They showed no change in the occurrence and growth of chemically-induced tumors. Altogether, chronic low-dose IL2 treatment does not affect beneficial effector immune responses at doses that prevent autoimmune diabetes.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24576619"
-},
{
"id": "pmid:24534762",
"manubot_success": true,
@@ -21743,79 +19408,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24534762"
},
-{
- "id": "pmid:24289252",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/24289252",
- "title": "The novel myxofibrosarcoma cell line MUG-Myx1 expresses a tumourigenic stem-like cell population with high aldehyde dehydrogenase 1 activity.",
- "type": "article-journal",
- "doi": "10.1186/1471-2407-13-563",
- "authors": [
- ["Birgit", "Lohberger"],
- ["Nicole", "Stuendl"],
- ["Elisabeth", "Wolf"],
- ["Bernadette", "Liegl-Atzwanger"],
- ["Andreas", "Leithner"],
- ["Beate", "Rinner"]
- ],
- "publisher": "BMC cancer",
- "issn": "1471-2407",
- "date": "2013-12-01",
- "abstract": "Myxofibrosarcoma comprises a spectrum of malignant neoplasms withprominent myxoid stromata, cellular pleomorphism, and distinct curvilinear vascular patterns. These neoplasms mainly affect patients in the sixth to eighth decades of life and the overall 5-year survival rate is 60-70%.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24289252"
-},
-{
- "id": "pmid:24094487",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/24094487",
- "title": "Culture expansion induces non-tumorigenic aneuploidy in adipose tissue-derived mesenchymal stromal cells.",
- "type": "article-journal",
- "doi": "10.1016/j.jcyt.2013.07.004",
- "authors": [
- ["Marieke", "Roemeling-van Rhijn"],
- ["Annelies", "de Klein"],
- ["Hannie", "Douben"],
- ["Qiuwei", "Pan"],
- ["Luc J W", "van der Laan"],
- ["Jan N M", "Ijzermans"],
- ["Michiel G H", "Betjes"],
- ["Carla C", "Baan"],
- ["Willem", "Weimar"],
- ["Martin J", "Hoogduijn"]
- ],
- "publisher": "Cytotherapy",
- "issn": "1477-2566",
- "date": "2013-11-01",
- "abstract": "Adipose tissue-derived mesenchymal stromal cells (ASCs) are of interest as a cell therapeutic agent for immunologic and degenerative diseases. During in vitro expansion, ASCs may be at risk for genetic alterations, and genetic screening is a prerequisite. We examined the presence of aneuploidy in ASCs and its origin and development during culture and evaluated the implications of aneuploidy for therapeutic use of ASCs.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24094487"
-},
-{
- "id": "pmid:23936170",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/23936170",
- "title": "MiR-17 partly promotes hematopoietic cell expansion through augmenting HIF-1\u03b1 in osteoblasts.",
- "type": "article-journal",
- "doi": "10.1371/journal.pone.0070232",
- "authors": [
- ["Yuxia", "Yang"],
- ["Wei", "Ma"],
- ["Dan", "Wu"],
- ["Yu", "Huang"],
- ["Hongge", "Li"],
- ["Junhua", "Zou"],
- ["Yanju", "Zhang"],
- ["Meifu", "Feng"],
- ["Jianyuan", "Luo"]
- ],
- "publisher": "PloS one",
- "issn": "1932-6203",
- "date": "2013-07-25",
- "abstract": "Hematopoietic stem cell (HSC) regulation is highly dependent on interactions with the marrow microenvironment, of which osteogenic cells play a crucial role. While evidence is accumulating for an important role of intrinsic miR-17 in regulating HSCs and HPCs, whether miR-17 signaling pathways are also necessary in the cell-extrinsic control of hematopoiesis hereto remains poorly understood.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23936170"
-},
{
"id": "pmid:23933208",
"manubot_success": true,
@@ -21835,98 +19427,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23933208"
},
-{
- "id": "pmid:23740954",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/23740954",
- "title": "Intrinsic molecular factors cause aberrant expansion of the splenic marginal zone B cell population in nonobese diabetic mice.",
- "type": "article-journal",
- "doi": "10.4049/jimmunol.1203252",
- "authors": [
- ["Jessica", "Stolp"],
- ["Eliana", "Mari\u00f1o"],
- ["Marcel", "Batten"],
- ["Frederic", "Sierro"],
- ["Selwyn L", "Cox"],
- ["Shane T", "Grey"],
- ["Pablo A", "Silveira"]
- ],
- "publisher": "Journal of immunology (Baltimore, Md. : 1950)",
- "issn": "1550-6606",
- "date": "2013-06-05",
- "abstract": "Marginal zone (MZ) B cells are an innate-like population that oscillates between MZ and follicular areas of the splenic white pulp. Differentiation of B cells into the MZ subset is governed by BCR signal strength and specificity, NF-\u03baB activation through the B cell-activating factor belonging to the TNF family (BAFF) receptor, Notch2 signaling, and migration signals mediated by chemokine, integrin, and sphingosine-1-phosphate receptors. An imbalance in splenic B cell development resulting in expansion of the MZ subset has been associated with autoimmune pathogenesis in various murine models. One example is the NOD inbred mouse strain, in which MZ B cell expansion has been linked to development of type 1 diabetes and Sj\u00f6gren's syndrome. However, the cause of MZ B cell expansion in this strain remains poorly understood. We have determined that increased MZ B cell development in NOD mice is independent of T cell autoimmunity, BCR specificity, BCR signal strength, and increased exposure to BAFF. Rather, mixed bone marrow chimeras showed that the factor(s) responsible for expansion of the NOD MZ subset is B cell intrinsic. Analysis of microarray expression data indicated that NOD MZ and precursor transitional 2-MZ subsets were particularly dysregulated for genes controlling cellular trafficking, including Apoe, Ccbp2, Cxcr7, Lgals1, Pla2g7, Rgs13, S1pr3, Spn, Bid, Cd55, Prf1, and Tlr3. Furthermore, these B cell subsets exhibited an increased steady state dwell time within splenic MZ areas. Our data therefore reveal that precursors of mature B cells in NOD mice exhibit an altered migration set point, allowing increased occupation of the MZ, a niche favoring MZ B cell differentiation.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23740954"
-},
-{
- "id": "pmid:23732300",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/23732300",
- "title": "Protective role of functionalized single walled carbon nanotubes enhance ex vivo expansion of hematopoietic stem and progenitor cells in human umbilical cord blood.",
- "type": "article-journal",
- "doi": "10.1016/j.nano.2013.05.009",
- "authors": [
- ["Sudipto", "Bari"],
- ["Pat Pak Yan", "Chu"],
- ["Andrea", "Lim"],
- ["Xiubo", "Fan"],
- ["Florence Pik Hoon", "Gay"],
- ["Ralph Milford", "Bunte"],
- ["Tony Kiat Hon", "Lim"],
- ["Shang", "Li"],
- ["Gigi Ngar Chee", "Chiu"],
- ["William Ying Khee", "Hwang"]
- ],
- "publisher": "Nanomedicine : nanotechnology, biology, and medicine",
- "issn": "1549-9642",
- "date": "2013-06-01",
- "abstract": "In this study, carboxylic acid functionalized single walled carbon nanotubes (f-SWCNT-COOH) was shown to support the viability and ex vivo expansion of freeze-thawed, non-enriched hematopoietic stem and progenitor cells (HSPC) in human umbilical cord blood-mononucleated cells (UCB-MNC). Our in vitro experiments showed that f-SWCNT-COOH increased the viability of the CD45(+) cells even without cytokine stimulation. It also reduced mitochondrial superoxides and caspase activity in CD45(+) cells. f-SWCNT-COOH drastically reduced the proportions of CD45(-) cells in the non-enriched UCB-MNC. Phenotypic expression analysis and functional colony forming units (CFU) showed significant ex vivo expansion of HSPC, particularly of CD45(+)CD34(+)CD38(-) population and granulocyte-macrophage (GM) colonies, in f-SWCNT-COOH augmented cultures supplemented with basal cytokines. In vivo data suggested that f-SWCNT-COOH expanded UCB-MNC could repopulate immunodeficient mice models with minimal acute or sub-acute symptoms of graft-versus-host disease (GVHD) and f-SWCNT-COOH dependent toxicity.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23732300"
-},
-{
- "id": "pmid:23574326",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/23574326",
- "title": "Human T cells depend on functional calcineurin, tumour necrosis factor-\u03b1 and CD80/CD86 for expansion and activation in mice.",
- "type": "article-journal",
- "doi": "10.1111/cei.12051",
- "authors": [
- ["H", "S\u00f8ndergaard"],
- ["P H", "Kvist"],
- ["C", "Haase"]
- ],
- "publisher": "Clinical and experimental immunology",
- "issn": "1365-2249",
- "date": "2013-05-01",
- "abstract": "Dysregulated T cells are a hallmark of several autoimmune and inflammatory diseases; thus, models to study human T cells in vivo are advantageous, but limited by lacking insight into human T cell functionality in mice. Using non-obese diabetic (NOD), severe combined immunodeficient (SCID) or recombination activating gene-1 (RAG1)(-/-) and interleukin-2 receptor gamma-chain (IL-2R\u03b3)(-/-) mice reconstituted with human peripheral blood mononuclear cells (PBMCs), we have studied the mechanisms of human T cell expansion and activation in mice. Injection of human PBMCs into mice caused consistent xeno-engraftment with polyclonal expansion and activation of functional human T cells and production of human cytokines. Human T cell expansion coincided with development of a graft-versus-host disease (GVHD)-like condition observed as weight loss, multi-organ immune infiltration and liver damage. CD8(+) T cells alone were sufficient for expansion and required for disease development; in contrast, CD4(+) T cells alone expanded but did not induce acute disease and, rather, exerted regulatory capacity through CD25(+)CD4(+) T cells. Using various anti-inflammatory compounds, we demonstrated that several T cell-activation pathways controlled T cell expansion and disease development, including calcineurin-, tumour necrosis factor-\u03b1 and co-stimulatory signalling via the CD80/CD86 pathway, indicating the diverse modes of action used by human T cells during expansion and activation in mice as well as the pharmacological relevance of this model. Overall, these data provide insight into the mechanisms used by human T cells during expansion and activation in mice, and we speculate that PBMC-injected mice may be useful to study intrinsic human T cell functions in vivo and to test T cell-targeting compounds.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23574326"
-},
-{
- "id": "pmid:23419678",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/23419678",
- "title": "Mesenchymal stromal cell supported umbilical cord blood ex vivo expansion enhances regulatory T cells and reduces graft versus host disease.",
- "type": "article-journal",
- "doi": "10.1016/j.jcyt.2012.12.007",
- "authors": [
- ["Xiubo", "Fan"],
- ["Florence Pik Hoon", "Gay"],
- ["Shin-Yeu", "Ong"],
- ["Justina May Lynn", "Ang"],
- ["Pat Pak Yan", "Chu"],
- ["Sudipto", "Bari"],
- ["Tony Kiat Hon", "Lim"],
- ["William Ying Khee", "Hwang"]
- ],
- "publisher": "Cytotherapy",
- "issn": "1477-2566",
- "date": "2013-02-16",
- "abstract": "Double cord blood transplantation (DCBT) may shorten neutrophil and platelet recovery times compared with standard umbilical cord blood transplantation. However, DCBT may be associated with a higher incidence of graft versus host disease (GVHD). In this study, we explored the effect of ex vivo expansion of a single cord blood unit (CBU) in a DCBT setting on GVHD and engraftment.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23419678"
-},
{
"id": "pmid:23263592",
"manubot_success": true,
@@ -22035,29 +19535,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22520093"
},
-{
- "id": "pmid:22345341",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/22345341",
- "title": "Renal and circulatory effects of large volume plasma expansion in patients with hepatorenal syndrome type 1.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["Andreas", "Umgelter"],
- ["Katrin S", "Wagner"],
- ["Wolfgang", "Reindl"],
- ["Peter B", "Luppa"],
- ["Fabian", "Geisler"],
- ["Wolfgang", "Huber"],
- ["Roland M", "Schmid"]
- ],
- "publisher": "Annals of hepatology",
- "issn": "1665-2681",
- "date": "2012-01-01",
- "abstract": "Hepatorenal syndrome type I (HRS I) may be a consequence of circulatory dysfunction in cirrhotic patients with portal hypertension. This uncontrolled interventional pilot study examines the hemodynamic and renal effects of large volume plasma expansion in HRS I.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22345341"
-},
{
"id": "pmid:22342974",
"manubot_success": true,
@@ -22109,120 +19586,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22297462"
},
-{
- "id": "pmid:22120608",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/22120608",
- "title": "Novel cell lines established from pediatric brain tumors.",
- "type": "article-journal",
- "doi": "10.1007/s11060-011-0756-5",
- "authors": [
- ["Jingying", "Xu"],
- ["Anat", "Erdreich-Epstein"],
- ["Ignacio", "Gonzalez-Gomez"],
- ["Elizabeth Y", "Melendez"],
- ["Goar", "Smbatyan"],
- ["Rex A", "Moats"],
- ["Michael", "Rosol"],
- ["Jaclyn A", "Biegel"],
- ["C Patrick", "Reynolds"]
- ],
- "publisher": "Journal of neuro-oncology",
- "issn": "1573-7373",
- "date": "2011-11-27",
- "abstract": "The paucity of cell culture models for childhood brain tumors prompted us to establish pediatric cell lines for use in biological experiments and preclinical developmental therapeutic studies. Three cell lines were established, CHLA-200 (GBM), CHLA-259 (anaplastic medulloblastoma) and CHLA-266 (atypical teratoid rhabdoid tumor, AT/RT). Consistent with an AT/RT origin, CHLA-266 lacked INI1 expression and had monosomy 22. All lines had unique DNA short tandem repeat \"fingerprints\" matching that of the patient's tumor tissue and were adherent on tissue culture plastic, but differed in morphology and doubling times. CHLA-200 had a silent mutation in TP53. CHLA-259 and CHLA-266 had wild-type TP53. All three lines were relatively resistant to multiple drugs when compared to the DAOY medulloblastoma cell line, using the DIMSCAN fluorescence digital image microscopy cytotoxicity assay. RNA expression of MYC and MYCN were quantified using RT-PCR (Taqman). CHLA-200 expressed MYC, DAOY and CHLA-259 expressed MYCN, and CHLA-266 expressed both MYCN and MYC. CHLA-200 was only tumorigenic subcutaneously, but CHLA-259 and CHLA-266 were tumorigenic both subcutaneously and in brains of NOD/SCID mice. Immunohistochemistry of the xenografts revealed GFAP staining in CHLA-200 and PGP 9.5 staining in CHLA-259 and CHLA-266 tumors. As expected, INI1 expression was lacking in CHLA-266 (AT/RT). These three new cell lines will provide useful models for research of pediatric brain tumors.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22120608"
-},
-{
- "id": "pmid:21813606",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/21813606",
- "title": "A Kaposi's sarcoma-associated herpesvirus-encoded ortholog of microRNA miR-155 induces human splenic B-cell expansion in NOD/LtSz-scid IL2R\u03b3null mice.",
- "type": "article-journal",
- "doi": "10.1128/jvi.05558-11",
- "authors": [
- ["Isaac W", "Boss"],
- ["Peter E", "Nadeau"],
- ["Jeffrey R", "Abbott"],
- ["Yajie", "Yang"],
- ["Ayalew", "Mergia"],
- ["Rolf", "Renne"]
- ],
- "publisher": "Journal of virology",
- "issn": "1098-5514",
- "date": "2011-08-03",
- "abstract": "MicroRNAs (miRNAs) are small noncoding RNA molecules that function as posttranscriptional regulators of gene expression. Kaposi's sarcoma (KS)-associated herpesvirus (KSHV), a B-cell-tropic virus associated with KS and B-cell lymphomas, encodes 12 miRNA genes that are highly expressed in these tumor cells. One viral miRNA, miR-K12-11, shares 100% seed sequence homology with hsa-miR-155, an oncogenic human miRNA that functions as a key regulator of hematopoiesis and B-cell differentiation. So far, in vitro studies have shown that both miRNAs can regulate a common set of cellular target genes, suggesting that miR-K12-11 may mimic miR-155 function. To comparatively study miR-K12-11 and miR-155 function in vivo, we used a foamy virus vector to express the miRNAs in human hematopoietic progenitors and performed immune reconstitutions in NOD/LtSz-scid IL2R\u03b3(null) mice. We found that ectopic expression of miR-K12-11 or miR-155 leads to a significant expansion of the CD19(+) B-cell population in the spleen. Subsequent quantitative PCR analyses of these splenic B cells revealed that C/EBP\u03b2, a transcriptional regulator of interleukin-6 that is linked to B-cell lymphoproliferative disorders, is downregulated when either miR-K12-11 or miR-155 is ectopically expressed. In addition, inhibition of miR-K12-11 function using antagomirs in KSHV-infected human primary effusion lymphoma B cells resulted in derepression of C/EBP\u03b2 transcript levels. This in vivo study validates miR-K12-11 as a functional ortholog of miR-155 in the context of hematopoiesis and suggests a novel mechanism by which KSHV miR-K12-11 induces splenic B-cell expansion and potentially KSHV-associated lymphomagenesis by targeting C/EBP\u03b2.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21813606"
-},
-{
- "id": "pmid:21666941",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/21666941",
- "title": "Comparison of the effects of sedation and general anesthesia in surgically assisted rapid palatal expansion.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["Tulin", "Satilmis"],
- ["Faysal", "Ugurlu"],
- ["Hasan", "Garip"],
- ["Bedrettin C", "Sener"],
- ["Kamil", "Goker"]
- ],
- "publisher": "Saudi medical journal",
- "issn": "1658-3175",
- "date": "2011-06-01",
- "abstract": "To compare the effects of sedation and general anesthesia for surgically assisted rapid palatal expansion (SARPE).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21666941"
-},
-{
- "id": "pmid:21521873",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/21521873",
- "title": "HLA-A2-matched peripheral blood mononuclear cells from type 1 diabetic patients, but not nondiabetic donors, transfer insulitis to NOD-scid/\u03b3c(null)/HLA-A2 transgenic mice concurrent with the expansion of islet-specific CD8+ T cells.",
- "type": "article-journal",
- "doi": "10.2337/db10-1287",
- "authors": [
- ["Fatima", "Whitfield-Larry"],
- ["Ellen F", "Young"],
- ["Garrick", "Talmage"],
- ["Elizabeth", "Fudge"],
- ["Anita", "Azam"],
- ["Shipra", "Patel"],
- ["Joseph", "Largay"],
- ["Warren", "Byrd"],
- ["John", "Buse"],
- ["Ali S", "Calikoglu"],
- ["Leonard D", "Shultz"],
- ["Jeffrey A", "Frelinger"]
- ],
- "publisher": "Diabetes",
- "issn": "1939-327X",
- "date": "2011-04-26",
- "abstract": "Type 1 diabetes is an autoimmune disease characterized by the destruction of insulin-producing \u03b2-cells. NOD mice provide a useful tool for understanding disease pathogenesis and progression. Although much has been learned from studies with NOD mice, increased understanding of human type 1 diabetes can be gained by evaluating the pathogenic potential of human diabetogenic effector cells in vivo. Therefore, our objective in this study was to develop a small-animal model using human effector cells to study type 1 diabetes.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21521873"
-},
-{
- "id": "pmid:21414755",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/21414755",
- "title": "IL-18 is required for self-reactive T cell expansion in NOD mice.",
- "type": "article-journal",
- "doi": "10.1016/j.jaut.2011.02.005",
- "authors": [
- ["Annette M", "Marleau"],
- ["Nora E", "Sarvetnick"]
- ],
- "publisher": "Journal of autoimmunity",
- "issn": "1095-9157",
- "date": "2011-03-16",
- "abstract": "IL-18 has a well-established role in pro-inflammatory responses in the islets in type 1 diabetes. Here, we identify a distinctive role for IL-18 in expanding pathogenic T cells in the periphery of NOD mice. Well in advance of disease onset, the periphery of IL-18-deficient mice exhibits reduced T cell turnover, an increased prevalence of na\u00efve and quiescent T cells, emergence of fewer effector T cells, and disease protection. Islet-reactive T cells fail to become activated in the lymphoid organs of mice lacking IL-18 and their rapid expansion is inhibited. IL-18 secretion by antigen presenting cells increases with advancing disease and is required for expression of its receptor on T cells. Our results demonstrate that induction of the IL-18 receptor reflects a critical stage of autoreactive T cell activation and expansion on the pathway toward effector T cell differentiation. This study therefore assigns a novel role to IL-18 for expanding the pool of islet-destructive T cells during pre-diabetes. This report highlights a new basic mechanism in type 1 diabetes pathogenesis and suggests that targeting the IL-18 pathway should be explored as a potential treatment strategy.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21414755"
-},
{
"id": "pmid:21108634",
"manubot_success": true,
@@ -22244,56 +19607,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21108634"
},
-{
- "id": "pmid:20735764",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/20735764",
- "title": "Thrombopoietin to replace megakaryocyte-derived growth factor: impact on stem and progenitor cells during ex vivo expansion of CD34+ cells mobilized in peripheral blood.",
- "type": "article-journal",
- "doi": "10.1111/j.1537-2995.2010.02860.x",
- "authors": [
- ["Pascale", "Duchez"],
- ["Jean", "Chevaleyre"],
- ["Marija", "Vlaski"],
- ["Bernard", "Dazey"],
- ["Fontanet", "Bijou"],
- ["Xavier", "Lafarge"],
- ["No\u00ebl", "Milpied"],
- ["Jean-Michel", "Boiron"],
- ["Zoran", "Ivanovic"]
- ],
- "publisher": "Transfusion",
- "issn": "1537-2995",
- "date": "2010-08-23",
- "abstract": "The first protocol of ex vivo expansion that enabled almost total abrogation of postmyeloablative chemotherapy neutropenia was based on a three-cytokine cocktail (stem cell factor [SCF], granulocyte-colony-stimulating factor [G-CSF], pegylated-megakaryocyte growth and development factor [PEG-MGDF]) in a serum-free medium. Since the clinical-grade molecule MGDF is no longer available on the market, we evaluated its substitution by thrombopoietin (TPO).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20735764"
-},
-{
- "id": "pmid:20675590",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/20675590",
- "title": "Roles for TGF-beta and programmed cell death 1 ligand 1 in regulatory T cell expansion and diabetes suppression by zymosan in nonobese diabetic mice.",
- "type": "article-journal",
- "doi": "10.4049/jimmunol.1001365",
- "authors": [
- ["Oliver T", "Burton"],
- ["Paola", "Zaccone"],
- ["Jenny M", "Phillips"],
- ["Hugo", "De La Pe\u00f1a"],
- ["Zolt\u00e1n", "Feh\u00e9rv\u00e1ri"],
- ["Miyuki", "Azuma"],
- ["Sarah", "Gibbs"],
- ["Brigitta", "Stockinger"],
- ["Anne", "Cooke"]
- ],
- "publisher": "Journal of immunology (Baltimore, Md. : 1950)",
- "issn": "1550-6606",
- "date": "2010-07-30",
- "abstract": "Zymosan is a complex fungal component shown to be capable of both promoting and suppressing the development of autoimmune disorders in mice. In this study, we show that a single injection of zymosan just prior to diabetes onset can significantly delay the progression of disease in NOD mice. Zymosan treatment of NOD mice induced the production of biologically active TGF-beta from cells infiltrating the pancreas and was associated with expansion of programmed cell death 1 ligand 1(+)TGF-beta(+) macrophages and Foxp3(+) regulatory T cells in vivo. Neutralization of either TGF-beta or programmed cell death 1 ligand 1 abrogated the protective effects of zymosan. Zymosan acted through TLR2 as well as ERK and p38 MAPK to induce macrophage secretion of TGF-beta and promotion of Foxp3(+) regulatory T cells in vitro and in vivo.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20675590"
-},
{
"id": "pmid:20589872",
"manubot_success": true,
@@ -22320,121 +19633,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20589872"
},
-{
- "id": "pmid:20587781",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/20587781",
- "title": "An in vivo model of double-unit cord blood transplantation that correlates with clinical engraftment.",
- "type": "article-journal",
- "doi": "10.1182/blood-2010-03-276212",
- "authors": [
- ["Lamis K", "Eldjerou"],
- ["Sonali", "Chaudhury"],
- ["Ada", "Baisre-de Leon"],
- ["Mai", "He"],
- ["Maria E", "Arcila"],
- ["Glenn", "Heller"],
- ["Richard J", "O'Reilly"],
- ["Juliet N", "Barker"],
- ["Malcolm A", "Moore"]
- ],
- "publisher": "Blood",
- "issn": "1528-0020",
- "date": "2010-06-29",
- "abstract": "Double-unit cord blood transplantation (DCBT) appears to enhance engraftment despite sustained hematopoiesis usually being derived from a single unit. To investigate DCBT biology, in vitro and murine models were established using cells from 39 patient grafts. Mononuclear cells (MNCs) and CD34(+) cells from each unit alone and in DCB combination were assessed for colony-forming cell and cobblestone area-forming cell potential, and multilineage engraftment in NOD/SCID/IL2R-\u03b3(null) mice. In DCB assays, the contribution of each unit was measured by quantitative short tandem repeat region analysis. There was no correlation between colony-forming cell (n = 10) or cobblestone area-forming cell (n = 9) numbers and clinical engraftment, and both units contributed to DCB cocultures. In MNC transplantations in NOD/SCID/IL2R-\u03b3(null) mice, each unit engrafted alone, but MNC DCBT demonstrated single-unit dominance that correlated with clinical engraftment in 18 of 21 cases (86%, P < .001). In contrast, unit dominance and clinical correlation were lost with CD34(+) DCBT (n = 11). However, add-back of CD34(-) to CD34(+) cells (n = 20) restored single-unit dominance with the dominant unit correlating not with clinical engraftment but also with the origin of the CD34(-) cells in all experiments. Thus, unit dominance is an in vivo phenomenon probably associated with a graft-versus-graft immune interaction mediated by CD34(-) cells.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20587781"
-},
-{
- "id": "pmid:20491532",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/20491532",
- "title": "Good manufacturing practice-compliant cell sorting and large-scale expansion of single KIR-positive alloreactive human natural killer cells for multiple infusions to leukemia patients.",
- "type": "article-journal",
- "doi": "10.3109/14653241003786155",
- "authors": [
- ["Uwe", "Siegler"],
- ["Sandrine", "Meyer-Monard"],
- ["Simon", "J\u00f6rger"],
- ["Martin", "Stern"],
- ["Andr\u00e9", "Tichelli"],
- ["Alois", "Gratwohl"],
- ["Aleksandra", "Wodnar-Filipowicz"],
- ["Christian P", "Kalberer"]
- ],
- "publisher": "Cytotherapy",
- "issn": "1477-2566",
- "date": "2010-10-01",
- "abstract": "Alloreactive natural killer (NK) cells are potent effectors of innate anti-tumor defense. The introduction of NK cell-based immunotherapy to current treatment options in acute myeloid leukemia (AML) requires NK cell products with high anti-leukemic efficacy optimized for clinical use.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20491532"
-},
-{
- "id": "pmid:20299469",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/20299469",
- "title": "Idd9.2 and Idd9.3 protective alleles function in CD4+ T-cells and nonlymphoid cells to prevent expansion of pathogenic islet-specific CD8+ T-cells.",
- "type": "article-journal",
- "doi": "10.2337/db09-1801",
- "authors": [
- ["Emma E", "Hamilton-Williams"],
- ["S B Justin", "Wong"],
- ["Xavier", "Martinez"],
- ["Daniel B", "Rainbow"],
- ["Kara M", "Hunter"],
- ["Linda S", "Wicker"],
- ["Linda A", "Sherman"]
- ],
- "publisher": "Diabetes",
- "issn": "1939-327X",
- "date": "2010-03-18",
- "abstract": "Multiple type 1 diabetes susceptibility genes have now been identified in both humans and mice, yet mechanistic understanding of how they impact disease pathogenesis is still minimal. We have sought to dissect the cellular basis for how the highly protective mouse Idd9 region limits the expansion of autoreactive CD8(+) T-cells, a key cell type in destruction of the islets.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20299469"
-},
-{
- "id": "pmid:20226247",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/20226247",
- "title": "HSP65 serves as an immunogenic carrier for a diabetogenic peptide P277 inducing anti-inflammatory immune response in NOD mice by nasal administration.",
- "type": "article-journal",
- "doi": "10.1016/j.vaccine.2010.02.100",
- "authors": [
- ["Jin", "Liang"],
- ["Zhu", "Aihua"],
- ["Wang", "Yu"],
- ["Lu", "Yong"],
- ["Liu", "Jingjing"]
- ],
- "publisher": "Vaccine",
- "issn": "1873-2518",
- "date": "2010-03-10",
- "abstract": "Mucosal administration of autoantigen HSP65 can induce anti-inflammatory immune response and decrease organ-specific inflammation and disease in several models of autoimmunity, such as arthritis and atherosclerosis. We have been interested in whether the HSP65 serves as an immunogenic carrier for a diabetogenic peptide P277 can also induce anti-inflammatory immune response in NOD mice by mucosal administration. Thus, the dual functions of anti-type 1 diabetes of HSP65 and P277 will be obtained. To test this hypothesis, we examined the effect of intranasal vaccination with P277 tandem repeat sequences carried by HSP65 in the absence of adjuvants on autoimmune diabetes in NOD mice. We found a significant decrease in the incidence of diabetes, inhibition of insulitis, reduction in IgG2a isotype antibodies to P277 and proinflammatory cytokines IFN-gamma and IL-2 secretion, increased IgG1, IgG2b subclass antibodies to P277 and anti-inflammatory cytokines IL-10 and IL-4 secretion, and reduced proliferation in nasal administration of the fusion protein HSP65-6xP277. Our results demonstrate that HSP65 may serve as a particularly advantageous carrier for P277-based vaccines and mucosal administration may be a therapeutic approach for treatment of type 1 diabetes.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20226247"
-},
-{
- "id": "pmid:19558779",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/19558779",
- "title": "Ex vivo nanofiber expansion and genetic modification of human cord blood-derived progenitor/stem cells enhances vasculogenesis.",
- "type": "article-journal",
- "doi": "10.3727/096368909788534870",
- "authors": [
- ["Hiranmoy", "Das"],
- ["Nasreen", "Abdulhameed"],
- ["Matthew", "Joseph"],
- ["Ramasamy", "Sakthivel"],
- ["Hai-Quan", "Mao"],
- ["Vincent J", "Pompili"]
- ],
- "publisher": "Cell transplantation",
- "issn": "0963-6897",
- "date": "2009-01-01",
- "abstract": "The stem cell therapy for treating ischemic diseases is promising; however, the limited availability and compromised quality of progenitor cells in aged and diseased patients limit its therapeutic use. Here we report a nanofiber-based ex vivo stem cell expansion technology and proangiogenic growth factors overexpression of human umbilical cord blood (UCB)-derived progenitor cells to enhance angiogenic potential of therapeutic stem cells. The progenitor cells were expanded approximately 225-fold on nanofiber-based serum-free ex vivo expansion culture technique without inducing differentiation. The expanded cells express high levels of stem cell homing receptor, CXCR4, and adhesion molecule, LFA-1. The nanofiber-expanded stem cells uptake AcLDL effectively, and migrate efficiently in an in vitro transmigration assay. These expanded cells can also differentiate into endothelial and smooth muscle cells in vitro. In a NOD/SCID mouse hind limb vascular injury model, nanofiber-expanded cells were more effective in blood flow restoration and this effect was further augmented by VEGF(164) and PDGF-BB, growth factor overexpression. The data indicate that nanofiber-based ex vivo expansion technology can provide an essential number of therapeutic stem cells. Additionally, proangiogenic growth factors overexpression in progenitor cells can potentially improve autologous or allogeneic stem cell therapy for ischemic diseases.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19558779"
-},
{
"id": "pmid:19429075",
"manubot_success": true,
@@ -22487,24 +19685,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19370769"
},
-{
- "id": "pmid:19277587",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/19277587",
- "title": "Ex vivo assays to study self-renewal and long-term expansion of genetically modified primary human acute myeloid leukemia stem cells.",
- "type": "article-journal",
- "doi": "10.1007/978-1-59745-418-6_14",
- "authors": [
- ["Jan Jacob", "Schuringa"],
- ["Hein", "Schepers"]
- ],
- "publisher": "Methods in molecular biology (Clifton, N.J.)",
- "issn": "1064-3745",
- "date": "2009-01-01",
- "abstract": "With the emergence of the concept of the leukemia stem cell, assays to study them remain pivotal in understanding (leukemic) stem cell biology. Although the in vivo NOD-SCID xenotransplantation model is still the favored model of choice in most cases, this system has some limitations as well, such as its cost-effectiveness, duration, and the lack of engraftability of cells from subsets of acute myeloid leukemia (AML) patients. Here, we have described an ex vivo bone marrow stromal coculture system in which CD34(+) cells, but not CD34(-) cells, from the bone marrow or peripheral blood of AML patients can give rise to long-term cultures (LTC) that can be maintained for over 20 weeks. Long-term expansion is associated with the formation of leukemic cobblestone area (L-CA) formation underneath the stroma. Self-renewal within these L-CAs can be determined by sequential passaging of these L-CAs onto new MS5 stromal layers, which results in the generation of second, third, and fourth L-CAs that are able to sustain long-term expansion and generate high numbers of immature undifferentiated suspension cells. Furthermore, we have optimized lentiviral transduction procedures in order to stably express genes of interest or stably downmodulate genes using RNAi in AML CD34(+) cells, and this method has also been described here. Together, these tools should allow a further molecular elucidation of derailed signal transduction in AML stem cells.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19277587"
-},
{
"id": "pmid:19259763",
"manubot_success": true,
@@ -22562,78 +19742,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19039037"
},
-{
- "id": "pmid:18492787",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/18492787",
- "title": "CD28/CD154 blockade prevents autoimmune diabetes by inducing nondeletional tolerance after effector t-cell inhibition and regulatory T-cell expansion.",
- "type": "article-journal",
- "doi": "10.2337/db07-1712",
- "authors": [
- ["Mark R", "Rigby"],
- ["Alison M", "Trexler"],
- ["Thomas C", "Pearson"],
- ["Christian P", "Larsen"]
- ],
- "publisher": "Diabetes",
- "issn": "1939-327X",
- "date": "2008-05-20",
- "abstract": "Blocking T-cell signaling is an effective means to prevent autoimmunity and allograft rejection in many animal models, yet the clinical translation of many of these approaches has not resulted in the success witnessed in experimental systems. Improved understanding of these approaches may assist in developing safe and effective means to treat disorders such as autoimmune diabetes.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:18492787"
-},
-{
- "id": "pmid:18282263",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/18282263",
- "title": "Preclinical ex vivo expansion of peripheral blood CD34+ selected cells from cancer patients mobilized with combination chemotherapy and granulocyte colony-stimulating factor.",
- "type": "article-journal",
- "doi": "10.1111/j.1423-0410.2008.01038.x",
- "authors": [
- ["D", "Lorenzon"],
- ["M", "Mazzucato"],
- ["L", "Abbruzzese"],
- ["M", "Cilli"],
- ["S", "De Angeli"],
- ["M", "Degan"],
- ["G", "Mambrini"],
- ["F", "Piccardi"],
- ["M", "Rupolo"],
- ["M", "Michieli"],
- ["L", "De Marco"],
- ["V", "Gattei"],
- ["G", "Astori"]
- ],
- "publisher": "Vox sanguinis",
- "issn": "1423-0410",
- "date": "2008-02-14",
- "abstract": "Ex vivo peripheral blood progenitor cell (PBPC) expansion has been proposed as a strategy to increase the number of haematopoietic progenitors available for cell transplantation. We have expanded CD34+ cells from PBPCs obtained from four patients with haematological malignancies and one patient with an Ewing's sarcoma.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:18282263"
-},
-{
- "id": "pmid:18197961",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/18197961",
- "title": "Effects of plasma expansion with albumin and paracentesis on haemodynamics and kidney function in critically ill cirrhotic patients with tense ascites and hepatorenal syndrome: a prospective uncontrolled trial.",
- "type": "article-journal",
- "doi": "10.1186/cc6765",
- "authors": [
- ["Andreas", "Umgelter"],
- ["Wolfgang", "Reindl"],
- ["Katrin S", "Wagner"],
- ["Michael", "Franzen"],
- ["Konrad", "Stock"],
- ["Roland M", "Schmid"],
- ["Wolfgang", "Huber"]
- ],
- "publisher": "Critical care (London, England)",
- "issn": "1466-609X",
- "date": "2008-01-15",
- "abstract": "Circulatory dysfunction in cirrhotic patients may cause a specific kind of functional renal failure termed hepato-renal syndrome (HRS). It contributes to the high incidence of renal failure in cirrhotic intensive care unit (ICU) patients. Fluid therapy may aggravate renal failure by increasing ascites and intra-abdominal pressure (IAP). This study investigates the short-term effects of paracentesis on haemodynamics and kidney function in volume resuscitated patients with HRS.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:18197961"
-},
{
"id": "pmid:18182848",
"manubot_success": true,
@@ -22738,33 +19846,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17420317"
},
-{
- "id": "pmid:17076849",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/17076849",
- "title": "Large-scale expansion and transplantation of CD34(+) hematopoietic cells: in vitro and in vivo confirmation of neutropenia abrogation related to the expansion process without impairment of the long-term engraftment capacity.",
- "type": "article-journal",
- "doi": "10.1111/j.1537-2995.2006.01001.x",
- "authors": [
- ["Jean-Michel", "Boiron"],
- ["Bernard", "Dazey"],
- ["Christian", "Cailliot"],
- ["B\u00e9atrice", "Launay"],
- ["Michel", "Attal"],
- ["Fr\u00e9d\u00e9ric", "Mazurier"],
- ["Ian K", "McNiece"],
- ["Zoran", "Ivanovic"],
- ["Jean", "Caraux"],
- ["G\u00e9rald", "Marit"],
- ["Josy", "Reiffers"]
- ],
- "publisher": "Transfusion",
- "issn": "0041-1132",
- "date": "2006-11-01",
- "abstract": "Herein are reported the results obtained in all multiple myeloma patients transplanted with peripheral blood hematopoietic progenitor cells submitted to ex vivo expansion.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17076849"
-},
{
"id": "pmid:16967484",
"manubot_success": true,
@@ -22818,51 +19899,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16858508"
},
-{
- "id": "pmid:16751371",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/16751371",
- "title": "IL-1 beta breaks tolerance through expansion of CD25+ effector T cells.",
- "type": "article-journal",
- "doi": "10.4049/jimmunol.176.12.7278",
- "authors": [
- ["Brendan J", "O'Sullivan"],
- ["Helen E", "Thomas"],
- ["Saparna", "Pai"],
- ["Pere", "Santamaria"],
- ["Yoichiro", "Iwakura"],
- ["Raymond J", "Steptoe"],
- ["Thomas W H", "Kay"],
- ["Ranjeny", "Thomas"]
- ],
- "publisher": "Journal of immunology (Baltimore, Md. : 1950)",
- "issn": "0022-1767",
- "date": "2006-06-15",
- "abstract": "IL-1 is a key proinflammatory driver of several autoimmune diseases including juvenile inflammatory arthritis, diseases with mutations in the NALP/cryopyrin complex and Crohn's disease, and is genetically or clinically associated with many others. IL-1 is a pleiotropic proinflammatory cytokine; however the mechanisms by which increased IL-1 signaling promotes autoreactive T cell activity are not clear. Here we show that autoimmune-prone NOD and IL-1 receptor antagonist-deficient C57BL/6 mice both produce high levels of IL-1, which drives autoreactive effector cell expansion. IL-1beta drives proliferation and cytokine production by CD4(+)CD25(+)FoxP3(-) effector/memory T cells, attenuates CD4(+)CD25(+)FoxP3(+) regulatory T cell function, and allows escape of CD4(+)CD25(-) autoreactive effectors from suppression. Thus, inflammation or constitutive overexpression of IL-1beta in a genetically predisposed host can promote autoreactive effector T cell expansion and function, which attenuates the ability of regulatory T cells to maintain tolerance to self.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16751371"
-},
-{
- "id": "pmid:16739181",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/16739181",
- "title": "Expansion of engrafting human hematopoietic stem/progenitor cells in three-dimensional scaffolds with surface-immobilized fibronectin.",
- "type": "article-journal",
- "doi": "10.1002/jbm.a.30829",
- "authors": [
- ["Qi", "Feng"],
- ["Chou", "Chai"],
- ["Xue-Song", "Jiang"],
- ["Kam W", "Leong"],
- ["Hai-Quan", "Mao"]
- ],
- "publisher": "Journal of biomedical materials research. Part A",
- "issn": "1549-3296",
- "date": "2006-09-15",
- "abstract": "An efficient and practical ex vivo expansion methodology for human hematopoietic stem/progenitor cells (HSPCs) is critical in realizing the potential of HSPC transplantation in treating a variety of hematologic disorders and as a supportive therapy for malignant diseases. We report here an expansion strategy using a three-dimensional (3D) scaffold conjugated with an extracellular matrix molecule, fibronectin (FN), to partially mimic the hematopoietic stem cell niche. FN-immobilized 3D polyethylene terephthalate (PET) scaffold was synthesized and evaluated for HSPC expansion efficiency, in comparison with a FN-immobilized 2D PET substrate and a 3D scaffold with FN supplemented in the medium. Covalent conjugation of FN produced substrate and scaffold with higher cell expansion efficiency than that on their unmodified counterparts. After 10 days of culture in serum-free medium, human umbilical cord blood CD34+ cells cultured in FN-conjugated scaffold yielded the highest expansion of CD34+ cells (approximately 100 fold) and long-term culture initiating cells (approximately 47-fold). The expanded human CD34+ cells successfully reconstituted hematopoiesis in NOD/SCID mice. This study demonstrated the synergistic effect between the three-dimensionality of the scaffold and surface-conjugated FN, and the potential of this FN-conjugated 3D scaffold for ex vivo expansion of HSPCs.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16739181"
-},
{
"id": "pmid:16251216",
"manubot_success": true,
@@ -23006,25 +20042,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:15133824"
},
-{
- "id": "pmid:15114683",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/15114683",
- "title": "Peripheral CD4loCD40+ auto-aggressive T cell expansion during insulin-dependent diabetes mellitus.",
- "type": "article-journal",
- "doi": "10.1002/eji.200324703",
- "authors": [
- ["Dan M", "Waid"],
- ["Gisela M", "Vaitaitis"],
- ["David H", "Wagner"]
- ],
- "publisher": "European journal of immunology",
- "issn": "0014-2980",
- "date": "2004-05-01",
- "abstract": "The generation of auto-aggressive T cells involves failure of central or peripheral tolerance. We previously demonstrated that peripheral CD4(lo)CD40(+) T cells give rise to pathogenic T cells in the non-obese diabetic (NOD) model. Here we show that peripheral CD4(+)CD40(+) T cells from diabetic or pre-diabetic NOD mice induce insulin-dependent diabetes mellitus. Consistent with breach of peripheral tolerance, CD4(lo)CD40(+) T cells expand with age in NOD mice but not in MHC-matched non-obese resistant (NOR) or BALB/c controls. Suggestive of a causal role for CD40 in autoimmunity, blocking CD40-CD154 interactions early during NOD development prevents autoaggressive T cell expansion while promoting increases in CD4(+)CD25(+) regulatory T cells. Importantly, CD40 signals promote expansion of V alpha 3.2(+) and V alpha 8.3(+) T cells. Furthermore, peripheral V alpha 3.2(+)CD40(+) T cells induce diabetes in NOD.scid recipients while V alpha 8.3(+) T cells or V alpha 3.2(+)-depleted T cell populations do not. This is the first demonstration that primary T cells transfer disease with the kinetics of auto-aggressive T cell clones and that specific TCR V alpha expansion promotes diabetes.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:15114683"
-},
{
"id": "pmid:14756671",
"manubot_success": true,
@@ -23056,53 +20073,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:14756671"
},
-{
- "id": "pmid:14512297",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/14512297",
- "title": "Long-term expansion of transplantable human fetal liver hematopoietic stem cells.",
- "type": "article-journal",
- "doi": "10.1182/blood-2003-06-1815",
- "authors": [
- ["Pierre", "Rollini"],
- ["Stefan", "Kaiser"],
- ["Eveline", "Faes-van't Hull"],
- ["Ursula", "Kapp"],
- ["Serge", "Leyvraz"]
- ],
- "publisher": "Blood",
- "issn": "0006-4971",
- "date": "2003-09-25",
- "abstract": "Hematopoietic stem cells (HSCs), with their dual ability for self-renewal and multilineage differentiation, constitute an essential component of hematopoietic transplantations. Human fetal liver (FL) represents a promising alternative HSC source, and we previously reported simple culture conditions allowing long-term expansion of FL hematopoietic progenitors. In the present study, we used the nonobese diabetic/severe combined immunodeficiency (NOD/SCID) mouse xenotransplantation assay to confirm that human FL is rich in NOD/SCID-repopulating cells (SRCs) and to show that these culture conditions repeatedly maintained short- and long-term SRCs from various FL samples for at least 28 days. Quantitative limited dilution analysis in NOD/SCID mice demonstrated for the first time that a 10- to over a 100-fold net expansion of FL SRCs could be achieved after 28 days of culture. The efficiency of this culture system may lead to an increase in the use of FL as a source of HSCs for transplantation in adult patients, as previously demonstrated with umbilical cord blood under different culture conditions.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:14512297"
-},
-{
- "id": "pmid:12963970",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/12963970",
- "title": "Immortalization of bone marrow-derived human mesenchymal stem cells by removable simian virus 40T antigen gene: analysis of the ability to support expansion of cord blood hematopoietic progenitor cells.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["Keisuke", "Nishioka"],
- ["Yoshihiro", "Fujimori"],
- ["Tomoko", "Hashimoto-Tamaoki"],
- ["Shunro", "Kai"],
- ["Huiying", "Qiu"],
- ["Naoya", "Kobayashi"],
- ["Noriaki", "Tanaka"],
- ["Karen A", "Westerman"],
- ["Philippe", "Leboulch"],
- ["Hiroshi", "Hara"]
- ],
- "publisher": "International journal of oncology",
- "issn": "1019-6439",
- "date": "2003-10-01",
- "abstract": "Human marrow-derived mesenchymal stem cells (MSC), which have the potential to differentiate into mesenchymal tissues, such as bone, cartilage, adipose and bone marrow stroma, were transduced with a retroviral vector carrying the simian virus 40 large T antigen, hygromycin-resistant gene and herpes simplex virus thymidine kinase gene, that can be excised by Cre/loxP site-specific recombination. This resulted in establishment of an MSC cell line, HMSC-1, which retained original surface characteristics and differentiation potential, and exhibited a higher proliferative capacity than parental cells. HMSC-1 expressed mRNAs of BMP-4, Jagged-1, and SCF that are known to promote hematopoiesis. Human CB CD34+ hematopoietic progenitor cells (HPC) cultured on a layer of HMSC-1 cells showed high expansion of CD34+CD38- immature HPC, capable of reconstituting human hematopoiesis in non-obese diabetic/severe combined immunodeficient disease (NOD/SCID) mice. This cell line may be of value for developing strategies for ex vivo expansion of human HPC.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12963970"
-},
{
"id": "pmid:12925365",
"manubot_success": true,
@@ -23129,27 +20099,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12925365"
},
-{
- "id": "pmid:12831411",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/12831411",
- "title": "Plasma volume expansion by medium molecular weight hydroxyethyl starch in neonates: a pilot study.",
- "type": "article-journal",
- "doi": "10.1097/01.pcc.0000074262.84240.1e",
- "authors": [
- ["Jean-Michel", "Liet"],
- ["Anne-Sophie", "Bellouin"],
- ["C\u00e9cile", "Boscher"],
- ["Corinne", "Lejus"],
- ["Jean-Christophe", "Roz\u00e9"]
- ],
- "publisher": "Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies",
- "issn": "1529-7535",
- "date": "2003-07-01",
- "abstract": "To study the renal effects (measured by creatininemia) of plasma volume expansion with a medium molecular weight hydroxyethyl starch in the newborn.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12831411"
-},
{
"id": "pmid:12764052",
"manubot_success": true,
@@ -23170,28 +20119,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12764052"
},
-{
- "id": "pmid:12662435",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/12662435",
- "title": "Establishment of mouse embryonic fibroblast cell lines that promote ex vivo expansion of human cord blood CD34+ hematopoietic progenitors.",
- "type": "article-journal",
- "doi": "10.1089/152581603321210127",
- "authors": [
- ["Huiying", "Qiu"],
- ["Yoshihiro", "Fujimori"],
- ["Shunro", "Kai"],
- ["Yuka", "Fujibayashi"],
- ["Keisuke", "Nishioka"],
- ["Hiroshi", "Hara"]
- ],
- "publisher": "Journal of hematotherapy & stem cell research",
- "issn": "1525-8165",
- "date": "2003-02-01",
- "abstract": "The development of culture systems that facilitate ex vivo maintenance and expansion of transplantable hematopoietic progenitor cells (HPC) is vital to stem cell transplantation. The use of a monolayer of stromal cells on which to grow HPC in direct contact allows high efficiency ex vivo expansion of HPC. Here, we report an establishment of three murine embryonic fibroblast stromal cell lines from adherent cells of day-12 mouse embryos. Among them, HYMEQ-5 was most efficient in supporting long-term maintenance of human umbilical cord blood (CB) CD34(+) cells. Human CB CD34(+) cells cultured on HYMEQ-5 in the presence of stem cell factor (SCF), thrombopoietin, and flk-ligand (FL) showed high expansion of CD34(+)CD38(-) cells and highly proliferative potential-colony forming cells (HPP-CFC). Direct cell-to-cell contact between CD34(+) cells and HYMEQ-5 was important for this expansion. RT-PCR analysis showed that HYMEQ-5 produced FL, SCF, interleukin-6, and macrophage colony-stimulating factor (M-CSF). Expanded CB CD34(+) cells efficiently reconstituted hematopoiesis in nonobese diabetic/severe combined immunodeficient disease (NOD/SCID) mice. These findings suggest that HYMEQ-5 provides a milieu that supports long-term human hematopoiesis as well as ex vivo expansion of human CB CD34(+) HPC. This cell line may facilitate elucidation of the mechanism of cellular interactions between HPC and stromal cells.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12662435"
-},
{
"id": "pmid:12614315",
"manubot_success": true,
@@ -23215,29 +20142,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12614315"
},
-{
- "id": "pmid:12558785",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/12558785",
- "title": "Bone marrow mesenchymal cells for haemophilia A gene therapy using retroviral vectors with modified long-terminal repeats.",
- "type": "article-journal",
- "doi": "10.1046/j.1365-2516.2003.00709.x",
- "authors": [
- ["A", "Van Damme"],
- ["M K L", "Chuah"],
- ["F", "Dell'accio"],
- ["C", "De Bari"],
- ["F", "Luyten"],
- ["D", "Collen"],
- ["T", "VandenDriessche"]
- ],
- "publisher": "Haemophilia : the official journal of the World Federation of Hemophilia",
- "issn": "1351-8216",
- "date": "2003-01-01",
- "abstract": "Bone marrow (BM) cells are attractive target cells for ex vivo gene therapy of genetic diseases, including haemophilia A. However, BM-derived haematopoietic stem/progenitor cells (HSCs) transduced with factor VIII (FVIII) retroviral vectors, failed to express FVIII in vivo. To overcome the limitations of HSCs for haemophilia gene therapy, BM-derived mesenchymal cells were explored as alternative target cells. The BM mesenchymal cell population contains self-renewing mesenchymal stem/progenitor cells that give rise to different mesenchymal lineages and have been used safely in phase I gene-marking trials. Human BM mesenchymal cells were transduced in vitro with an improved retroviral vector encoding a human B-domain deleted FVIII (hFVIIIdeltaB) cDNA (MND-MFG-hFVIIIdeltaB). This vector contains multiple modifications in the cis-acting elements within the MoMLV long-terminal repeats (LTR) that prevent the binding of repressive transcription factors. These modifications were previously shown to increase and prolong gene expression in embryonic stem (ES) cells and HSCs. Transduction of BM mesenchymal cells with the MND-MFG-hFVIIIdeltaB retroviral vector resulted in high levels of functional human FVIII in vitro, ranging between 300 +/- 50 SD and 700 +/- 100 SD mU per 106 cells per 24 h. Following xenografting of the transduced human BM cells into immunodeficient NOD-SCID mice, therapeutic hFVIII levels of 12 +/- 10 ng mL-1 were detected in the plasma. Polymerase chain reaction analysis demonstrated long-term engraftment (>3 months) of the human BM mesenchymal cells. The long-term persistence of BM mesenchymal cells in the absence of myelo-ablative conditioning and the therapeutic FVIII levels in vivo underscore the potential usefulness of BM-derived mesenchymal cells for haemophilia gene therapy, as opposed to BM-derived HSCs. Despite the modifications of the MoMLV LTR, FVIII expression declined, which coincided with a decrease in FVIII mRNA transcription levels, indicating that the salutary effect of the LTR modification on transgene expression is not universally applicable to all cell types.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12558785"
-},
{
"id": "pmid:12235319",
"manubot_success": true,
@@ -23417,34 +20321,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11574112"
},
-{
- "id": "pmid:11424003",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/11424003",
- "title": "Efficient ex vivo expansion of NOD/SCID-repopulating cells with lympho-myeloid potential in hematopoietic grafts of children with solid tumors.",
- "type": "article-journal",
- "doi": "10.1038/sj/thj/6200083",
- "authors": [
- ["C", "Tourino"],
- ["F", "Pflumio"],
- ["S", "Novault"],
- ["A", "Mass\u00e9"],
- ["M", "Guiller"],
- ["M L", "Bonnet"],
- ["D", "Valteau-Couanet"],
- ["O", "Hartmann"],
- ["W", "Vainchenker"],
- ["F", "Beaujean"],
- ["L", "Coulombel"],
- ["A G", "Turhan"]
- ],
- "publisher": "The hematology journal : the official journal of the European Haematology Association",
- "issn": "1466-4860",
- "date": "2001-01-01",
- "abstract": "The ex vivo expansion of hematopoietic grafts could be an important therapeutic tool for accelerating hematopoietic recovery after administration of high-dose chemotherapy regimens. The fate of the long-term repopulating cells during the ex vivo manipulation of grafts is a critical issue and will ultimately define the clinical applicability of this technology to hematopoietic transplantation.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11424003"
-},
{
"id": "pmid:11198291",
"manubot_success": true,
@@ -23493,33 +20369,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10942107"
},
-{
- "id": "pmid:10907641",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10907641",
- "title": "Dominant expansion of human T cells in non-obese diabetic/severe combined immunodeficiency mice implanted with human bone fragments.",
- "type": "article-journal",
- "doi": "10.1016/s0301-472x(00)00178-8",
- "authors": [
- ["Y", "Fujiki"],
- ["M", "Onodera"],
- ["T", "Yamaguchi"],
- ["M", "Osawa"],
- ["K", "Sudo"],
- ["H", "Hamada"],
- ["H", "Ema"],
- ["A", "Shibuya"],
- ["M", "Takiguchi"],
- ["T", "Kubo"],
- ["H", "Nakauchi"]
- ],
- "publisher": "Experimental hematology",
- "issn": "0301-472X",
- "date": "2000-07-01",
- "abstract": "To establish an in vivo animal model in which human T cells develop and function normally, a step toward developing new vaccines or chemical compounds that modulate immune functions and toward understanding T-cell immunity in humans.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10907641"
-},
{
"id": "pmid:10894992",
"manubot_success": true,
@@ -23648,33 +20497,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10677044"
},
-{
- "id": "pmid:10666223",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10666223",
- "title": "Hodgkin and reed-sternberg cells represent an expansion of a single clone originating from a germinal center B-cell with functional immunoglobulin gene rearrangements but defective immunoglobulin transcription.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["T", "Marafioti"],
- ["M", "Hummel"],
- ["H D", "Foss"],
- ["H", "Laumen"],
- ["P", "Korbjuhn"],
- ["I", "Anagnostopoulos"],
- ["H", "Lammert"],
- ["G", "Demel"],
- ["J", "Theil"],
- ["T", "Wirth"],
- ["H", "Stein"]
- ],
- "publisher": "Blood",
- "issn": "0006-4971",
- "date": "2000-02-15",
- "abstract": "Single cell studies aimed at clarifying the nature and clonality of Hodgkin and Reed-Sternberg (HRS) cells of classical Hodgkin's disease (HD) have so far produced conflicting results. Using an improved single cell procedure, the HRS cells of 25 patients with nodular sclerosing HD lacking B- and T-cell antigens, with and without Epstein-Barr virus infection, were analyzed for the presence of immunoglobulin (Ig) gene rearrangements. One patient with HD developed follicular lymphoma 2 years later. Both lymphomas originated from a common precursor identified as a germinal center B cell. The data show that all but one of the investigated cases harbored rearranged Ig genes, which were clonal in all instances and carried a high load of somatic mutations. The Ig coding capacity was preserved in 18 of the 24 cases (75%) with rearrangements. However, expression of Ig messenger RNA was not detectable in the HRS cells with the exception of Ig kappa light chain expression in some tumor cells of 1 case. The lack of Ig gene transcription in HRS cells was confirmed by analyzing the HD cell lines L428 and KM-H2 in transient transfection experiments. An Ig promoter/enhancer reporter construct showed virtually no activity in these cells compared to 5 control B-cell lines. We conclude that (1) classical HD is a B-cell lymphoma in most instances, (2) HRS cells are clonal without any exception, (3) they are derived from germinal center B-cells that (4) mostly lack crippling mutations but (5) have consistently lost their Ig gene transcription ability, due to functional defects in the Ig gene regulatory elements. (Blood. 2000;95:1443-1450)",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10666223"
-},
{
"id": "pmid:10515170",
"manubot_success": true,
@@ -23726,33 +20548,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10453742"
},
-{
- "id": "pmid:10339480",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10339480",
- "title": "Engraftment in nonobese diabetic severe combined immunodeficient mice of human CD34(+) cord blood cells after ex vivo expansion: evidence for the amplification and self-renewal of repopulating stem cells.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["W", "Piacibello"],
- ["F", "Sanavio"],
- ["A", "Severino"],
- ["A", "Dan\u00e8"],
- ["L", "Gammaitoni"],
- ["F", "Fagioli"],
- ["E", "Perissinotto"],
- ["G", "Cavalloni"],
- ["O", "Kollet"],
- ["T", "Lapidot"],
- ["M", "Aglietta"]
- ],
- "publisher": "Blood",
- "issn": "0006-4971",
- "date": "1999-06-01",
- "abstract": "Understanding the repopulating characteristics of human hematopoietic stem/progenitor cells is crucial for predicting their performance after transplant into patients receiving high-dose radiochemotherapy. We have previously reported that CD34(+) cord blood (CB) cells can be expanded in vitro for several months in serum containing culture conditions. The use of combinations of recombinant early acting growth factors and the absence of stroma was essential in determining this phenomenon. However, the effect of these manipulations on in vivo repopulating hematopoietic cells is not known. Recently, a new approach has been developed to establish an in vivo model for human primitive hematopoietic precursors by transplanting human hematopoietic cells into sublethally irradiated nonobese diabetic severe combined immunodeficient (NOD/SCID) mice. We have examined here the expansion of cells, CD34(+) and CD34(+)38(-) subpopulations, colony-forming cells (CFC), long-term culture initiating cells (LTC-IC) and the maintenance or the expansion of SCID-repopulating cells (SRC) during stroma-free suspension cultures of human CD34(+) CB cells for up to 12 weeks. Groups of sublethally irradiated NOD/SCID mice were injected with either 35,000, 20,000, and 10,000 unmanipulated CD34(+) CB cells, which were cryopreserved at the start of cultures, or the cryopreserved cells expanded from 35,000, 20,000, or 10,000 CD34(+) cells for 4, 8, and 12 weeks in the presence of a combination of early acting recombinant growth factors (flt 3/flk2 ligand [FL] + megakaryocyte growth and development factor [MGDF] +/- stem cell factor [SCF] +/- interleukin-6 [IL-6]). Mice that had been injected with >/=20,000 fresh or cryopreserved uncultured CD34(+) cells did not show any sign or showed little engraftment in a limited number of animals. Conversely, cells that had been generated by the same number of initial CD34(+) CB cells in 4 to 10 weeks of expansion cultures engrafted the vast majority of NOD/SCID mice. The level of engraftment, well above that usually observed when the same numbers of uncultured cells were injected in the same recipients (even in the presence of irradiated CD34(-) cells) suggested that primitive hematopoietic cells were maintained for up to 10 weeks of cultures. In addition, dilution experiments suggest that SRC are expanded more than 70-fold after 9 to 10 weeks of expansion. These results support and extend our previous findings that CD34(+) CB stem cells (identified as LTC-IC) could indeed be grown and expanded in vitro for an extremely long period of time. Such information may be essential to design efficient stem cell expansion procedures for clinical use.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10339480"
-},
{
"id": "pmid:10332026",
"manubot_success": true,
@@ -24638,73 +21433,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7734112"
},
-{
- "id": "pmid:8401590",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/8401590",
- "title": "Polygenic control of autoimmune diabetes in nonobese diabetic mice.",
- "type": "article-journal",
- "doi": "10.1038/ng0893-404",
- "authors": [
- ["S", "Ghosh"],
- ["S M", "Palmer"],
- ["N R", "Rodrigues"],
- ["H J", "Cordell"],
- ["C M", "Hearne"],
- ["R J", "Cornall"],
- ["J B", "Prins"],
- ["P", "McShane"],
- ["G M", "Lathrop"],
- ["L B", "Peterson"]
- ],
- "publisher": "Nature genetics",
- "issn": "1061-4036",
- "date": "1993-08-01",
- "abstract": "Partial exclusion mapping of the nonobese (NOD) diabetic mouse genome has shown linkage of diabetes to at least five different chromosomes. We have now excluded almost all of the genome for the presence of susceptibility genes with fully recessive effects and have obtained evidence of linkage of ten distinct loci to diabetes or the prediabetic lesion, insulitis, indicative of a polygenic mode of inheritance. The relative importance of these loci and their interactions have been assessed using a new application of multiple polychotomous regression methods. A candidate disease gene, interleukin-2 (Il-2), which is closely linked to insulitis and diabetes, is shown to have a different sequence in NOD, including an insertion and a deletion of tandem repeat sequences which encode amino acid repeats in the mature protein.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8401590"
-},
-{
- "id": "pmid:1612651",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/1612651",
- "title": "Definition of microsatellite size variants for Tnfa and Hsp70 in autoimmune and nonautoimmune mouse strains.",
- "type": "article-journal",
- "doi": "10.1007/bf00661095",
- "authors": [
- ["C O", "Jacob"],
- ["F", "Hwang"]
- ],
- "publisher": "Immunogenetics",
- "issn": "0093-7711",
- "date": "1992-01-01",
- "abstract": "We have cloned and sequenced the upstream regulatory region of tumor necrosis factor alpha (Tnfa) gene in 12 different mouse strains and identified an allelic polymorphism in the upstream regulatory region of the mouse Tnfa gene. The TNF allele found in the NZW strain is distinct from those of all other H-2 haplotypes, supporting our previous suggestion that this allele may be associated with a regulatory or structural defect. In addition, simple tandem repeat sequences (microsatellites) within the promoter region of the Tnfa gene and the 3' untranslated region of one of the members of the HSP70 family (Hsp68c clone) were utilized as genetic markers. Ten TNF size variants and twelve HSP70 variants were identified in over forty mouse strains. Using these markers in a set of congenic mice, we mapped this member of the HSP70 family to the central portion of the H-2 complex, centromeric to the Tnfa gene. The NOD and NZW strains carry unique HSP70 alleles based on the variability in the length of this marker. These findings raise the possibility that this protein may play a role in the association of the major histocompatibility complex with these autoimmune diseases.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:1612651"
-},
-{
- "id": "pmid:1833460",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/1833460",
- "title": "Expansion of the population of double negative CD4-8- T alpha beta-cells in the liver is a common feature of autoimmune mice.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["T", "Masuda"],
- ["T", "Ohteki"],
- ["T", "Abo"],
- ["S", "Seki"],
- ["S", "Nose"],
- ["H", "Nagura"],
- ["K", "Kumagai"]
- ],
- "publisher": "Journal of immunology (Baltimore, Md. : 1950)",
- "issn": "0022-1767",
- "date": "1991-11-01",
- "abstract": "There have been several reports that double negative (DN) CD4-8- T alpha beta-cells might be responsible for the onset of autoimmune diseases in humans and mice. We previously revealed that such DN T alpha beta-cells are generated in the liver of autoimmune MRL-lpr/lpr mice. In the present study, we further characterize the histology of the liver in these mice by light and electron microscopic studies. An intensive accumulation of mononuclear cells in the liver was demonstrated and a significant proportion of these mononuclear lymphocytes was found to intimately interact with Kupffer cells or endothelial cells of the hepatic sinusoids. The majority of such lymphocytes were TcR+CD4-8-Pgp-1+ alpha beta-cells. Identification of DN T alpha beta-cells was then performed in various autoimmune model mice. Interestingly, all autoimmune mice tested (i.e., MRL-lpr/lpr, C3H/HeJ-gld/gld, BXSB, NOD, MRL(-)+/+ and NZB/W F1 mice), showed an increased proportion of DN T alpha beta-cells (greater than 11% among all MNC) in the liver when they became old and diseased. On the other hand, young and old normal mice and young autoimmune mice before the onset of disease did not have such a high proportion of DN T alpha beta-cells (less than 10%) in the liver. Among autoimmune mice, MRL-lpr/lpr and C3H/HeJ-gld/gld mice had lymphadenopathy, which consisted of DN T alpha beta-cells (greater than 25%), after the onset of disease. Autoimmune mice of the other strains had neither lymphadenopathy nor DN T alpha beta-cells in the periphery, even when they were diseased. These results suggest that the expansion of the DN T alpha beta-cell population in the liver is a common feature of autoimmune mice, irrespective of the information of lymphadenopathy.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:1833460"
-},
{
"id": "pmid:39456985",
"manubot_success": true,
@@ -26562,6 +23290,33 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21282659"
},
+{
+ "id": "pmid:20065034",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/20065034",
+ "title": "The DNA unwinding element binding protein DUE-B interacts with Cdc45 in preinitiation complex formation.",
+ "type": "article-journal",
+ "doi": "10.1128/mcb.00710-09",
+ "authors": [
+ ["A", "Chowdhury"],
+ ["G", "Liu"],
+ ["M", "Kemp"],
+ ["X", "Chen"],
+ ["N", "Katrangi"],
+ ["S", "Myers"],
+ ["M", "Ghosh"],
+ ["J", "Yao"],
+ ["Y", "Gao"],
+ ["P", "Bubulya"],
+ ["M", "Leffak"]
+ ],
+ "publisher": "Molecular and cellular biology",
+ "issn": "1098-5549",
+ "date": "2010-01-11",
+ "abstract": "Template unwinding during DNA replication initiation requires the loading of the MCM helicase activator Cdc45 at replication origins. We show that Cdc45 interacts with the DNA unwinding element (DUE) binding protein DUE-B and that these proteins localize to the DUEs of active replication origins. DUE-B and Cdc45 are not bound at the inactive c-myc replicator in the absence of a functional DUE or at the recently identified ataxin 10 (ATX10) origin, which is silent before disease-related (ATTCT)(n) repeat length expansion of its DUE sequence, despite the presence of the origin recognition complex (ORC) and MCM proteins at these origins. Addition of a heterologous DUE to the ectopic c-myc origin, or expansion of the ATX10 DUE, leads to origin activation, DUE-B binding, and Cdc45 binding. DUE-B, Cdc45, and topoisomerase IIbeta binding protein 1 (TopBP1) form complexes in cell extracts and when expressed from baculovirus vectors. During replication in Xenopus egg extracts, DUE-B and Cdc45 bind to chromatin with similar kinetics, and DUE-B immunodepletion blocks replication and the loading of Cdc45 and a fraction of TopBP1. The coordinated binding of DUE-B and Cdc45 to origins and the physical interactions of DUE-B, Cdc45, and TopBP1 suggest that complexes of these proteins are necessary for replication initiation.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20065034"
+},
{
"id": "pmid:19651850",
"manubot_success": true,
@@ -26672,6 +23427,31 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17846122"
},
+{
+ "id": "pmid:16924013",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/16924013",
+ "title": "The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10.",
+ "type": "article-journal",
+ "doi": "10.1212/01.wnl.0000231140.26253.eb",
+ "authors": [
+ ["M", "Wakamiya"],
+ ["T", "Matsuura"],
+ ["Y", "Liu"],
+ ["G C", "Schuster"],
+ ["R", "Gao"],
+ ["W", "Xu"],
+ ["P S", "Sarkar"],
+ ["X", "Lin"],
+ ["T", "Ashizawa"]
+ ],
+ "publisher": "Neurology",
+ "issn": "1526-632X",
+ "date": "2006-08-22",
+ "abstract": "Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder characterized by cerebellar ataxia and seizures. SCA10 is caused by an expansion of an ATTCT pentanucleotide repeat in intron 9 of the ataxin 10 (ATXN10) gene encoding an approximately 55-kd protein of unknown function. However, how this mutation leads to SCA10 is unknown.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16924013"
+},
{
"id": "pmid:16498633",
"manubot_success": true,
@@ -31571,27 +28351,9 @@
},
{
"id": "pmid:17923635",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/17923635",
- "title": "Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism.",
- "type": "article-journal",
- "doi": "10.1001/archneur.64.10.1510",
- "authors": [
- ["Jong-Min", "Kim"],
- ["Susie", "Hong"],
- ["Gyoung Pyoung", "Kim"],
- ["Yoon Jae", "Choi"],
- ["Yu Kyeong", "Kim"],
- ["Sung Sup", "Park"],
- ["Sang Eun", "Kim"],
- ["Beom S", "Jeon"]
- ],
- "publisher": "Archives of neurology",
- "issn": "0003-9942",
- "date": "2007-10-01",
- "abstract": "To examine the presence of an ATXN2 mutation in patients with parkinsonism in the Korean population and to find the difference in the ATXN2 mutation between ataxic and parkinsonian phenotypes.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17923635"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/17923635",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:17923635']' timed out after 3 seconds"
},
{
"id": "pmid:17712857",
@@ -32536,26 +29298,9 @@
},
{
"id": "pmid:10642945",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10642945",
- "title": "Spinocerebellar ataxia type 2 in seven Korean families: CAG trinucleotide expansion and clinical characteristics.",
- "type": "article-journal",
- "doi": "10.3346/jkms.1999.14.6.659",
- "authors": [
- ["J M", "Kim"],
- ["S", "Shin"],
- ["J Y", "Kim"],
- ["S I", "Joo"],
- ["S S", "Park"],
- ["J W", "Kim"],
- ["B S", "Jeon"]
- ],
- "publisher": "Journal of Korean medical science",
- "issn": "1011-8934",
- "date": "1999-12-01",
- "abstract": "Studies on spinocerebellar ataxias (SCA) have been hampered by a lack of disease markers. Clinical and pathological heterogeneity also made the classification unreliable. Linkage studies established that there are multiple subtypes of SCA. Five types are found to have unstable CAG expansion; the diagnosis can be established by molecular genetic study. Therefore, we systemically screened degenerative ataxia patients for these five SCA types, and identified eight patients with SCA2 (seven from six families and one sporadic case). This paper presents the clinical information on the seven patients, whose clinical information was available in detail. CAG repeat expansion in the patients ranged from 38 to 47 (normal control, 19 to 27). The onset ages ranged from 16 to 41 with 27.1 years as the mean, which correlated inversely with repeat lengths. All patients presented dysarthria and gait ataxia. Upper limb dysmetria or dysdiadochokinesia appeared later but progressed, causing severe disability. Slow saccade (4 patients in 7) and decreased DTR (4 in 7) were common. MRIs showed severe atrophy of the brainstem and cerebellum in all patients. We conclude that SCA2 is the most frequent type in Korea and carries rather pure cerebellar syndrome, slow saccade, and hyporeflexia.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10642945"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/10642945",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:10642945']' timed out after 3 seconds"
},
{
"id": "pmid:10573020",
@@ -33358,6 +30103,63 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7762567"
},
+{
+ "id": "pmid:39731318",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39731318",
+ "title": "Apolipoprotein E epsilon4 allele is associated with better performance language and visual memory in spinocerebellar ataxia type 3.",
+ "type": "article-journal",
+ "doi": "10.1111/ene.70017",
+ "authors": [
+ ["Xuanyu", "Chen"],
+ ["Kunxin", "Lin"],
+ ["Zhixian", "Ye"],
+ ["Liangliang", "Qiu"],
+ ["Yusen", "Qiu"],
+ ["Ruying", "Yuan"],
+ ["Xintong", "Yu"],
+ ["Chunyu", "Huang"],
+ ["Bi", "Cheng"],
+ ["Wei", "Lin"],
+ ["Tianmin", "Lai"],
+ ["Wanjin", "Chen"],
+ ["Ning", "Wang"],
+ ["Shirui", "Gan"],
+ ["Qiuni", "Su"],
+ ["Ying", "Fu"]
+ ],
+ "publisher": "European journal of neurology",
+ "issn": "1468-1331",
+ "date": "2025-01-01",
+ "abstract": "The regulatory role of the apolipoprotein E (APOE) \u03b54 allele in the clinical manifestations of spinocerebellar ataxia type 3 (SCA3) remains unclear. This study aimed to evaluate the impact of the APOE \u03b54 allele on cognitive and motor functions in SCA3 patients.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39731318"
+},
+{
+ "id": "pmid:39699045",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39699045",
+ "title": "Genetic Analysis of GCA Repeats in the GLS Gene: Implications for Undiagnosed Ataxia and Spinocerebellar Ataxia 3 in Mainland China.",
+ "type": "article-journal",
+ "doi": "10.1002/mds.30083",
+ "authors": [
+ ["Lijing", "Lei"],
+ ["Linliu", "Peng"],
+ ["Linlin", "Wan"],
+ ["Zhao", "Chen"],
+ ["Chunrong", "Wang"],
+ ["Huirong", "Peng"],
+ ["Rong", "Qiu"],
+ ["Beisha", "Tang"],
+ ["Hong", "Jiang"]
+ ],
+ "publisher": "Movement disorders : official journal of the Movement Disorder Society",
+ "issn": "1531-8257",
+ "date": "2024-12-19",
+ "abstract": "Recent studies have reported that expanded GCA repeats in the GLS gene can cause glutaminase deficiency with ataxia phenotype. However, to data, no studies have investigated the distribution and role of GCA repeats in the GLS gene of Chinese individuals.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39699045"
+},
{
"id": "pmid:39516744",
"manubot_success": true,
@@ -37108,31 +33910,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12832059"
},
-{
- "id": "pmid:12588188",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/12588188",
- "title": "Molecular characterization of mitomycin C-induced large deletions and tandem-base substitutions in the bone marrow of gpt delta transgenic mice.",
- "type": "article-journal",
- "doi": "10.1021/tx0255673",
- "authors": [
- ["Akira", "Takeiri"],
- ["Masayuki", "Mishima"],
- ["Kenji", "Tanaka"],
- ["Akihumi", "Shioda"],
- ["Otoya", "Ueda"],
- ["Hiroshi", "Suzuki"],
- ["Makoto", "Inoue"],
- ["Ken-ichi", "Masumura"],
- ["Takehiko", "Nohmi"]
- ],
- "publisher": "Chemical research in toxicology",
- "issn": "0893-228X",
- "date": "2003-02-01",
- "abstract": "Deletion mutations constitute an important class of mutations that may result in a variety of human diseases, including cancer. Although many chemicals and ionizing radiations induce deletions, this class of mutation has been poorly characterized at the molecular level, particularly in vivo. Here we report the molecular nature of deletions as well as base substitutions induced by antitumor antibiotic mitomycin C (MMC) in the bone marrow using a novel transgenic mouse, gpt delta. In this mouse model, deletions and point mutations in lambda DNA integrated in the chromosome are individually selected as Spi(-) (sensitive to P2 interference) phages and 6-thioguanine-resistant bacterial colonies, respectively. The mice were treated with MMC (1 mg/kg/day) for five consecutive days. One week after the last treatment, lambda phage was rescued from the genomic DNA of the bone marrow by in vitro packaging reactions and subjected to Spi(-) and 6-thioguanine selections. The mutant frequency of Spi(-) with large deletions increased more than 20-fold over that of the control. Molecular sizes of the large deletions were mostly more than 2,000 base pairs. The large deletions frequently occurred between two short direct repeat sequences from 2 to 6 base pairs, suggesting that they are generated during the end-joining repair of double-strand breaks induced by interstrand cross-links in DNA. In 6-thioguanine selection, tandem-base substitutions, such as 5'-GG-3' to 5'-AT-3', were induced. It highlights the relevance of intrastrand cross-links as genotoxic lesions. Previous in vitro studies report the induction of single-base substitutions and single-base deletions by MMC. However, no such mutations were identified in vivo. Thus, our results strongly caution that in vitro mutation spectra do not necessarily reflect genotoxic events in vivo and emphasize the importance of transgenic rodent genotoxicity assays to examine the roles of DNA adducts in mutagenesis and carcinogenesis.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12588188"
-},
{
"id": "pmid:12486728",
"manubot_success": true,
@@ -37367,26 +34144,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10732811"
},
-{
- "id": "pmid:10712211",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10712211",
- "title": "Significant admixture linkage disequilibrium across 30 cM around the FY locus in African Americans.",
- "type": "article-journal",
- "doi": "10.1086/302820",
- "authors": [
- ["J A", "Lautenberger"],
- ["J C", "Stephens"],
- ["S J", "O'Brien"],
- ["M W", "Smith"]
- ],
- "publisher": "American journal of human genetics",
- "issn": "0002-9297",
- "date": "2000-03-01",
- "abstract": "Scientists, to understand the importance of allelic polymorphisms on phenotypes that are quantitative and environmentally interacting, are now turning to population-association screens, especially in instances in which pedigree analysis is difficult. Because association screens require linkage disequilibrium between markers and disease loci, maximizing the degree of linkage disequilibrium increases the chances of discovering functional gene-marker associations. One theoretically valid approach-mapping by admixture linkage disequilibrium (MALD), using recently admixed African Americans-is empirically evaluated here by measurement of marker associations with 15 short tandem repeats (STRs) and an insertion/deletion polymorphism of the AT3 locus in a 70-cM segment at 1q22-23, around the FY (Duffy) locus. The FY polymorphism (-46T-->C) disrupts the GATA promoter motif, specifically blocking FY erythroid expression and has a nearly fixed allele-frequency difference between European Americans and native Africans that is likely a consequence of a selective advantage of FY-/- in malaria infections. Analysis of linkage disequilibrium around the FY gene has indicated that there is strong and consistent linkage disequilibrium between FY and three flanking loci (D1S303, SPTA1, and D1S484) spanning 8 cM. We observed significant linkage-disequilibrium signals over a 30-cM region from -4.4 to 16.3 cM (from D1S2777 to D1S196) for STRs and at 26.4 cM (AT3), which provided quantitative estimates of centimorgan limits, by MALD assessment in African American population-association analyses, of 5-10 cM.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10712211"
-},
{
"id": "pmid:10575843",
"manubot_success": true,
@@ -37410,29 +34167,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10575843"
},
-{
- "id": "pmid:10465503",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10465503",
- "title": "Variation in the number of CAG repeats in the Machado-Joseph disease gene (MJD1) in the Japanese population.",
- "type": "article-journal",
- "doi": "10.1016/s0022-510x(99)00109-4",
- "authors": [
- ["Z", "Matsuyama"],
- ["H", "Kawakami"],
- ["H", "Maruyama"],
- ["H", "Harada"],
- ["K", "Nakata"],
- ["Y", "Yamaguchi"],
- ["S", "Nakamura"]
- ],
- "publisher": "Journal of the neurological sciences",
- "issn": "0022-510X",
- "date": "1999-06-15",
- "abstract": "Variation in the number of CAG repeats in the Machado-Joseph disease gene (MJD1) was examined by polymerase chain reaction and denaturing polyacrylamide gel electrophoresis analysis of 2134 normal and 135 affected chromosomes of Japanese individuals. The number of repeats ranged from 14 to 47 in normal alleles and from 61 to 84 in disease-associated alleles. The most frequent and lowest number of repeats was 14. The size distribution of normal MJD1 alleles did not fit a normal distribution curve, but was tetramodal. Repeats from 14 to 17, 18 to 23, 24 to 25, and 26 to 47 units were designated groups A through D, respectively. When examined Hardy-Weinberg equilibrium by chi-square analysis of goodness of fit: no evidence of significant deviation from the Hardy-Weinberg equilibrium was observed [x2=4.248<16.919 (P=0.05), df=9]. The observed distribution peak of normal MJD1 alleles corresponding to peptides containing 10, 15, 20, and 24 glutamine suggests that stretches of 5 and 10 glutamine might constitute a functional domain of human MJD1.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10465503"
-},
{
"id": "pmid:10433966",
"manubot_success": true,
@@ -37858,24 +34592,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9215676"
},
-{
- "id": "pmid:9153459",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/9153459",
- "title": "Atypical parkinsonism in a family of Portuguese ancestry: absence of CAG repeat expansion in the MJD1 gene.",
- "type": "article-journal",
- "doi": "10.1212/wnl.48.5.1285",
- "authors": [
- ["J P", "Sutton"],
- ["S M", "Pulst"]
- ],
- "publisher": "Neurology",
- "issn": "0028-3878",
- "date": "1997-05-01",
- "abstract": "We studied the clinical features and molecular genetics of a family, afflicted with a form of atypical parkinsonism, originating from the Madeira Islands of Portugal. We examined four affected individuals and reviewed clinical information on one other affected family member. Mean age at onset was 31 years. Parkinsonism (akinesia, rigidity, gait disturbance) was the most prominent feature in advanced disease. Levodopa responsiveness with peak-dose dyskinesia was present in one individual. Initial symptoms and other clinical features were variable and included other extrapyramidal signs (dystonia, action tremor of the limbs and bulbar muscles, synkinesis), ophthalmologic abnormalities (ptosis, slow saccades, progressive external ophthalmoplegia, hypometric saccades, saccadic pursuit movements), speech abnormalities (dysarthria, hypernasality), cortical impairment (dementia, frontal lobe dysfunction, palilalia, perseveration), minor cerebellar signs (dysmetria, gait ataxia), pyramidal abnormalities (spasticity, hyperreflexia), and peripheral nervous system abnormalities (propioceptive loss, areflexia, distal weakness, atrophy). The length of trinucleotide repeats in the MJD1 gene was in the normal range for all affected individuals.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9153459"
-},
{
"id": "pmid:9132496",
"manubot_success": true,
@@ -38385,43 +35101,24 @@
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7633439"
},
{
- "id": "pmid:8172176",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/8172176",
- "title": "Genetic linkage studies in antithrombin-deficient kindreds using a highly polymorphic trinucleotide short tandem repeat (STR) within the human antithrombin gene.",
- "type": "article-journal",
- "doi": "10.1002/ajh.2830460210",
- "authors": [
- ["H", "Ni"],
- ["J S", "Waye"],
- ["W P", "Sheffield"],
- ["B", "Eng"],
- ["M A", "Blajchman"]
- ],
- "publisher": "American journal of hematology",
- "issn": "0361-8609",
- "date": "1994-06-01",
- "abstract": "PCR amplification and analysis of short tandem repeats (STR) have provided a useful tool for genetic linkage studies and for the diagnosis of genetic disorders. We have recently identified a novel trinucleotide STR, (ATT).(TAA), in the fifth intron of the human antithrombin gene (AT3) located on chromosome 1q23. PCR amplification, cloning, and sequence analysis revealed this AT3-STR to be highly polymorphic with repeat units ranging in size from (ATT)5 to (ATT)18. Ten distinct alleles were found in 81 unrelated Caucasian individuals (162 alleles) with an observed heterozygosity of 81%. Genetic linkage studies using the AT3-STR in two previously described antithrombin (AT)-deficient kindreds, AT-Hamilton (Ala 382 Thr) and AT-Amiens (Arg 47 Cys), demonstrate, in a given kindred, that a specific AT3-STR polymorphism is strongly associated with a particular AT mutation. Thus, this highly polymorphic AT3-STR should be very useful in performing linkage studies in AT-deficient kindreds as well as in investigating other chromosome 1-related genetic disorders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8172176"
-},
-{
- "id": "pmid:2016084",
+ "id": "pmid:39649105",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/2016084",
- "title": "Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment.",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39649105",
+ "title": "Increased nuclear import characterizes aberrant nucleocytoplasmic transport in neurons from patients with spinocerebellar ataxia type 7.",
"type": "article-journal",
- "doi": "10.1007/bf00194629",
+ "doi": "10.3389/fnmol.2024.1478110",
"authors": [
- ["M", "Krawczak"],
- ["D N", "Cooper"]
+ ["Joshua G", "Macopson-Jones"],
+ ["Maile", "Adams"],
+ ["Julien", "Philippe"],
+ ["Albert R", "La Spada"]
],
- "publisher": "Human genetics",
- "issn": "0340-6717",
- "date": "1991-03-01",
- "abstract": "Reports describing short (less than 20 bp) gene deletions causing human genetic disease were collated in order to study underlying causative mechanisms. Deletion breakpoint junction regions were found to be non-random both at the nucleotide and dinucleotide sequence levels, an observation consistent with an endogenous sequence-directed mechanism of mutagenesis. Direct repeats of between 2bp and 8bp were found in the immediate vicinity of all but one of the 60 deletions analysed. Direct repeats are a feature of a number of recombination, replication or repair-based models of deletion mutagenesis and the possible contribution of each to the spectrum of mutations examined was assessed. The influence of parameters such as repeat length and length of DNA between repeats was studied in relation to the frequency, location and extent of these deletions. Findings were broadly consistent with a slipped mispairing model but the predicted deletion of one whole repeat copy was found only rarely. A modified version of the slipped mispairing hypothesis was therefore proposed and was shown to possess considerable explanatory value for approximately 25% of deletions examined. Whereas the frequency of inverted repeats in the vicinity of gene deletions was not significantly elevated, these elements may nevertheless promote instability by facilitating the formation of secondary structure intermediates. A significant excess of symmetrical sequence elements was however found at sites of single base deletions. A new model to explain the involvement of symmetric elements in frameshift mutagenesis was devised, which successfully accounted for a majority of the single base deletions examined. In general, the loss of one or a few base pairs of DNA was found to be more compatible with a replication-based model of mutagenesis than with a recombination or repair hypothesis. Seven hitherto unrecognized hotspots for deletion were noted in five genes (AT3, F8, HBA, HBB and HPRT). Considerable sequence homology was found between these different sites, and a consensus sequence (TGA/GA/GG/TA/C) was drawn up. Sequences fitting this consensus (i) were noted in the immediate vicinity of 41% of the other (sporadic) gene deletions, (ii) were found frequently at sites of spontaneous deletion in the hamster APRT gene, (iii) were found to be associated with many larger human gene deletions/translocations, (iv) act as arrest sites for human polymerase alpha during DNA replication and (v) have been shown by in vitro studies of human polymerase alpha to be especially prone to frameshift mutation.(ABSTRACT TRUNCATED AT 400 WORDS)",
+ "publisher": "Frontiers in molecular neuroscience",
+ "issn": "1662-5099",
+ "date": "2024-11-22",
+ "abstract": "Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disorder characterized by cerebellar and retinal degeneration. SCA7 is caused by a CAG-polyglutamine repeat expansion in the ataxin-7 gene, which encodes a transcription factor protein that is a core component of the STAGA co-activator complex. As ataxin-7 protein regularly shuttles between the nucleus and the cytosol, we sought to test if polyglutamine-expanded ataxin-7 protein results in nuclear membrane abnormalities or defects in nucleocytoplasmic (N/C) transport.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:2016084"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39649105"
},
{
"id": "pmid:39504355",
@@ -40963,31 +37660,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10690991"
},
-{
- "id": "pmid:38124269",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38124269",
- "title": "Comparison of maxillary transversal changes between auxiliary beta-titanium expansion arch and miniscrew-assisted rapid palatal expansion.",
- "type": "article-journal",
- "doi": "10.1111/ocr.12745",
- "authors": [
- ["Luis Henrique Braga", "Sader"],
- ["Gustavo", "Si\u00e9cola"],
- ["Cecilia Maria", "Marin Ramirez"],
- ["Aldo", "Otazu"],
- ["Dino Marcelo", "Torres"],
- ["Paula", "Cotrin"],
- ["Fabr\u00edcio Pinelli", "Valarelli"],
- ["C\u00e9lia Regina Maio", "Pinzan-Vercelino"],
- ["Karina Maria Salvatore", "Freitas"]
- ],
- "publisher": "Orthodontics & craniofacial research",
- "issn": "1601-6343",
- "date": "2023-12-20",
- "abstract": "This study compared buccal bone thickness, dental inclinations and maxillary transverse width dimensions changes between auxiliary beta-titanium expansion arch (AEA) and miniscrew-assisted rapid palatal expansion (MARPE).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38124269"
-},
{
"id": "pmid:36970617",
"manubot_success": true,
@@ -41111,27 +37783,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32066831"
},
-{
- "id": "pmid:30534819",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30534819",
- "title": "Midpalatal suture morphology and bone density evaluation after orthodontic expansion: a cone-bean computed tomography study in correlation with aesthetic parameters.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["Roxana", "Buzatu"],
- ["Riham", "Nagib"],
- ["M\u0103d\u0103lina", "Dinc\u0103"],
- ["Anca Silvia", "V\u00e2lceanu"],
- ["Camelia Alexandrina", "Szuhanek"]
- ],
- "publisher": "Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie",
- "issn": "2066-8279",
- "date": "2018-01-01",
- "abstract": "Maxillary expansion is one of the earliest methods of obtaining space used in the field of orthodontics. Maturing craniofacial sutures along with the increase in bone density and rigidity are main causes of high resistance of the maxilla to transversal expansion forces applied to the midpalatal suture through orthodontic appliances. Fifty-three patients, with a mean age of 16.4 years and a diagnosed transverse plane orthodontic anomaly were included in this study and divided in two groups: male group and female group. Cone-beam computed tomography (CBCT) was used for measurements conducted in order to determine bone density before and after jaw expansion in different segments of the midpalatal suture: anterior, middle and posterior. In males, slightly higher bone density values were observed in the midpalatal suture than in females before and after maxillary expansion, with average values ranging from 128.5 Hounsfield units (HU) to 672.9 HU. Bone density along the maxillary suture plays an important role in the success rate of orthodontic treatment. Assessing the palatal suture maturation on CBCT images is a very promising predictor for conventional or surgically assisted jaw expansion. Intra and extraoral pictures were used to evaluate the position of the zenith in the aesthetic area and gingival aesthetic line (GAL) class. In the study, there was a significant reduction in the number of class II, class III and class IV and an implicit increase of GAL I class that ensure a pleasant transition of the gingival level between the anterior maxillary teeth. The distribution of the gingival height in terms of the classes found prior to the orthodontic treatment remained unchanged after treatment.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30534819"
-},
{
"id": "pmid:28343865",
"manubot_success": true,
@@ -41167,25 +37818,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28343865"
},
-{
- "id": "pmid:28097164",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/28097164",
- "title": "Molecular characterization and construction of an infectious clone of a pepper isolate of",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["Omid", "Eini"],
- ["Ghazal", "Ebadzad Sahraei"],
- ["Seyed Ali Akbar", "Behjatnia"]
- ],
- "publisher": "Molecular biology research communications",
- "issn": "2322-181X",
- "date": "2016-06-01",
- "abstract": "Geminiviruses cause curly top disease, in dicotyledonous plants which constrains host crop production.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28097164"
-},
{
"id": "pmid:24215022",
"manubot_success": true,
@@ -41214,27 +37846,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24215022"
},
-{
- "id": "pmid:23936139",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/23936139",
- "title": "Mesoamerican origin and pre- and post-columbian expansions of the ranges of Acanthoscelides obtectus say, a cosmopolitan insect pest of the common bean.",
- "type": "article-journal",
- "doi": "10.1371/journal.pone.0070039",
- "authors": [
- ["M\u00e1rcia Rodrigues Carvalho", "Oliveira"],
- ["Alberto Soares", "Corr\u00eaa"],
- ["Giselle Anselmo", "de Souza"],
- ["Raul Narciso Carvalho", "Guedes"],
- ["Luiz Orlando", "de Oliveira"]
- ],
- "publisher": "PloS one",
- "issn": "1932-6203",
- "date": "2013-07-31",
- "abstract": "An unprecedented global transfer of agricultural resources followed the discovery of the New World; one consequence of this process was that staple food plants of Neotropical origin, such as the common bean (Phaseolus vulgaris), soon expanded their ranges overseas. Yet many pests and diseases were also transported. Acanthoscelides obtectus is a cosmopolitan seed predator associated with P. vulgaris. Codispersal within the host seed seems to be an important determinant of the ability of A. obtectus to expand its range over long distances. We examined the phylogeographic structure of A. obtectus by (a) sampling three mitochondrial gene sequences (12s rRNA, 16s rRNA, and the gene that encodes cytochrome c oxidase subunit I (COI)) throughout most of the species' range and (b) exploring its late evolutionary history. Our findings indicate a Mesoamerican origin for the current genealogical lineages of A. obtectus. Each of the two major centers of genetic diversity of P. vulgaris (the Andes and Mesoamerica) contains a highly differentiated lineage of the bean beetle. Brazil has two additional, closely related lineages, both of which predate the Andean lineage and have the Mesoamerican lineage as their ancestor. The cosmopolitan distribution of A. obtectus has resulted from recent expansions of the two Brazilian lineages. We present additional evidence for both pre-Columbian and post-Columbian range expansions as likely events that shaped the current distribution of A. obtectus worldwide.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23936139"
-},
{
"id": "pmid:23607545",
"manubot_success": true,
@@ -41263,150 +37874,180 @@
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23607545"
},
{
- "id": "pmid:21556742",
+ "id": "pmid:39730482",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/21556742",
- "title": "Velvet bean severe mosaic virus: a distinct begomovirus species causing severe mosaic in Mucuna pruriens (L.) DC.",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39730482",
+ "title": "Genetic epidemiology of amyotrophic lateral sclerosis in Cyprus: a population-based study.",
"type": "article-journal",
- "doi": "10.1007/s11262-011-0610-z",
+ "doi": "10.1038/s41598-024-80851-y",
"authors": [
- ["Mohammad", "Zaim"],
- ["Yogesh", "Kumar"],
- ["Vipin", "Hallan"],
- ["A A", "Zaidi"]
+ ["Ellie", "Mitsi"],
+ ["Christina", "Votsi"],
+ ["Pantelitsa", "Koutsou"],
+ ["Anthi", "Georghiou"],
+ ["Christiana C", "Christodoulou"],
+ ["Kleopas", "Kleopa"],
+ ["Eleni", "Zamba-Papanicolaou"],
+ ["Kyproula", "Christodoulou"],
+ ["Paschalis", "Nicolaou"]
],
- "publisher": "Virus genes",
- "issn": "1572-994X",
- "date": "2011-05-10",
- "abstract": "Velvet bean [Mucuna pruriens (L.) DC] is one of the most important medicinal plants. It is used to treat many ailments, but is widely used for the treatment especially for Parkinson's disease because of the presence of 3,4-dihydroxyphenylalanine (L-dopa) in it. It was noticed in last 5 years that the plants in the field showed severe mosaic, downward curling of the leaves, stunting, etc. This is consistently observed over the years in India. The disease was transmitted by whiteflies and by grafting and the causal agent was found to be a bipartite begomovirus. The whole genome was amplified by rolling circle amplification (RCA) using \u03d5-29 DNA polymerase and characterized. DNA-A and DNA-B shared a 124-nucleotide (nt) long highly conserved (98%) common region (CR). Comparisons with other begomovirus showed that DNA-A sequence has highest identity (76%) with an isolate of Mungbean yellow mosaic India virus (MYMIV; AY937195) reported from India. This data suggested that the present isolate is a new species of genus Begomovirus for which the name \"Velvet bean severe mosaic virus\" (VbSMV) is proposed. DNA-B has a maximum sequence identity of 49% with an isolate of Horsegram yellow mosaic virus (HgYMV; AM932426) reported from India. Infectious clones consisting of a 1.7 mer partial tandem repeat of DNA-A and a dimer of DNB-B were constructed and agro-inoculated to Macuna pruriens (L.) DC plants, which showed field observed symptoms 24 days post-infiltration (dpi). In phylogenetic analysis, DNA-A and DNA-B of the present isolate grouped with DNA-A of different begomoviruses reported from fabaceous crops. The study presents first ever molecular evidence of any disease in velvet bean and whole genome analysis of the causative virus which is a distinct bipartite species of Begomovirus.",
+ "publisher": "Scientific reports",
+ "issn": "2045-2322",
+ "date": "2024-12-28",
+ "abstract": "Amyotrophic lateral sclerosis (ALS) is a devastating, uniformly lethal degenerative disease of motor neurons, presenting with relentlessly progressive muscle atrophy and weakness. More than fifty genes carrying causative or disease-modifying variants have been identified since the 1990s, when the first ALS-associated variant in the gene SOD1 was discovered. The most commonly mutated ALS genes in the European populations include the C9orf72, SOD1, TARDBP and FUS. Understanding the genetic causes of ALS within a population is becoming more significant, especially in light of the possible development of personalized medicine. Here, we provide clinical and genetic data on familial and sporadic ALS patients in a Greek-Cypriot population-based cohort. Eighty-nine ALS patients, including 21 familial ALS (fALS) (23.6%) and 68 sporadic ALS (sALS) (76.4%), provided the cohort for variant screening of the most common ALS-associated genes. Moreover, next-generation sequencing (NGS) was also performed to identify rare ALS variants, and in silico prediction tools were applied to predict the downstream effect of the variants detected in our study. The pathogenic hexanucleotide G",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21556742"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39730482"
},
{
- "id": "pmid:21347256",
+ "id": "pmid:39722074",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/21347256",
- "title": "Unusual structures are present in DNA fragments containing super-long Huntingtin CAG repeats.",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39722074",
+ "title": "A robust evaluation of TDP-43, poly GP, cellular pathology and behavior in an AAV-C9ORF72 (G",
"type": "article-journal",
- "doi": "10.1371/journal.pone.0017119",
+ "doi": "10.1186/s40478-024-01911-y",
"authors": [
- ["Daniel", "Duzdevich"],
- ["Jinliang", "Li"],
- ["Jhoon", "Whang"],
- ["Hirohide", "Takahashi"],
- ["Kunio", "Takeyasu"],
- ["David T F", "Dryden"],
- ["A Jennifer", "Morton"],
- ["J Michael", "Edwardson"]
+ ["Emily G", "Thompson"],
+ ["Olivia", "Spead"],
+ ["Suleyman C", "Akerman"],
+ ["Carrie", "Curcio"],
+ ["Benjamin L", "Zaepfel"],
+ ["Erica R", "Kent"],
+ ["Thomas", "Philips"],
+ ["Balaji G", "Vijayakumar"],
+ ["Anna", "Zacco"],
+ ["Weibo", "Zhou"],
+ ["Guhan", "Nagappan"],
+ ["Jeffrey D", "Rothstein"]
],
- "publisher": "PloS one",
- "issn": "1932-6203",
- "date": "2011-02-11",
- "abstract": "In the R6/2 mouse model of Huntington's disease (HD), expansion of the CAG trinucleotide repeat length beyond about 300 repeats induces a novel phenotype associated with a reduction in transcription of the transgene.",
+ "publisher": "Acta neuropathologica communications",
+ "issn": "2051-5960",
+ "date": "2024-12-26",
+ "abstract": "The G",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21347256"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39722074"
},
{
- "id": "pmid:8664297",
+ "id": "pmid:39711523",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/8664297",
- "title": "Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci.",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39711523",
+ "title": "A robust evaluation of TDP-43, poly GP, cellular pathology and behavior in a AAV- C9ORF72 (G 4 C 2) 66 mouse model.",
"type": "article-journal",
- "doi": "10.1021/bi9601013",
+ "doi": "10.21203/rs.3.rs-5221595/v1",
"authors": [
- ["C E", "Pearson"],
- ["R R", "Sinden"]
+ ["Emily G", "Thompson"],
+ ["Olivia", "Spead"],
+ ["S Can", "Akerman"],
+ ["Carrie", "Curcio"],
+ ["Benjamin L", "Zaepfel"],
+ ["Erica R", "Kent"],
+ ["Thomas", "Philips"],
+ ["Balaji G", "Vijayakumar"],
+ ["Anna", "Zacco"],
+ ["Weibo", "Zhou"],
+ ["Guhan", "Nagappan"],
+ ["Jeffrey D", "Rothstein"]
],
- "publisher": "Biochemistry",
- "issn": "0006-2960",
- "date": "1996-04-16",
- "abstract": "Most models proposed to explain the disease-associated expansion of (CTG)n.(CAG)n and (CGG)n.(CCG)n trinucleotide repeats include the formation of slipped strand DNA structures during replication; however, physical evidence for these alternative DNA secondary structures has not been reported. Using cloned fragments from the myotonic dystrophy (DM) and fragile X syndrome (FRAXA) loci containing normal, premutation, and full mutation lengths of repeats, we report the formation of novel alternative DNA secondary structures that map within the repeat tracts during reannealing of complementary strands, containing equal lengths of repeats, into linear duplex DNA molecules. Linear duplex DNA molecules containing these alternative DNA secondary structures are characterized by reduced electrophoretic mobilities in polyacrylamide gels. These alternative secondary structures are stable at physiological ionic strengths and to temperatures up to at least 55 degrees C. Following reduplexing, the CAG strand of the (CTG)n.(CAG)n repeats is preferentially sensitive to mung bean nuclease, suggesting the presence of single-stranded DNA in the alternative DNA structure. For (CTG)17, which is a repeat length found in normal individuals, less than 3% of the DNA molecules formed alternative DNA structures upon reduplexing. DNA molecules containing (CTG)50 or (CTG)255, which represent premutation and full mutation lengths of triplet repeats, respectively, formed a heterogeneous population of alternative DNA structures in >50% of DNA molecules. The complexity of the structures formed increased with the length of the triplet repeat. The relationship between repeat length and the propensity of formation and complexity of the novel structures correlates with the effect of repeat length on genetic instability in human diseases. These are the first results consistent with the existence of slipped strand DNA structures. The potential involvement of these structures, which we term S-DNA, in the gentic instability of triplet repeats is discussed.",
+ "publisher": "Research square",
+ "issn": "2693-5015",
+ "date": "2024-12-10",
+ "abstract": "The G",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8664297"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39711523"
},
{
- "id": "pmid:39621905",
+ "id": "pmid:39709476",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39621905",
- "title": "C9orf72-linked arginine-rich dipeptide repeats aggravate pathological phase separation of G3BP1.",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39709476",
+ "title": "Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion.",
"type": "article-journal",
- "doi": "10.1073/pnas.2402847121",
+ "doi": "10.1186/s13024-024-00790-0",
"authors": [
- ["Margot", "Van Nerom"],
- ["Junaid", "Ahmed"],
- ["Tamas", "Lazar"],
- ["Attila", "Meszaros"],
- ["Quentin", "Galand"],
- ["Wim", "De Malsche"],
- ["Joris", "Van Lindt"],
- ["Rita", "Pancsa"],
- ["Dominique", "Maes"],
- ["Peter", "Tompa"]
+ ["Evan", "Udine"],
+ ["NiCole A", "Finch"],
+ ["Mariely", "DeJesus-Hernandez"],
+ ["Jazmyne L", "Jackson"],
+ ["Matthew C", "Baker"],
+ ["Siva Arumugam", "Saravanaperumal"],
+ ["Eric", "Wieben"],
+ ["Mark T W", "Ebbert"],
+ ["Jaimin", "Shah"],
+ ["Leonard", "Petrucelli"],
+ ["Rosa", "Rademakers"],
+ ["Bj\u00f6rn", "Oskarsson"],
+ ["Marka", "van Blitterswijk"]
],
- "publisher": "Proceedings of the National Academy of Sciences of the United States of America",
- "issn": "1091-6490",
- "date": "2024-12-02",
- "abstract": "The toxic effects of C9orf72-derived arginine-rich dipeptide repeats (R-DPRs) on cellular stress granules in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia remain unclear at the molecular level. Stress granules are formed through the switch of Ras GTPase-activating protein-binding protein 1 (G3BP1) by RNA from a closed inactive state to an open activated state, driving the formation of the organelle by liquid-liquid phase separation (LLPS). We show that R-DPRs bind G3BP1 a thousand times stronger than RNA and initiate LLPS much more effectively. Their pathogenic effect is underscored by the slow transition of R-DPR-G3BP1 droplets to aggregated, ThS-positive states that can recruit ALS-linked proteins hnRNPA1, hnRNPA2, and TDP-43. Deletion constructs and molecular simulations show that R-DPR binding and LLPS are mediated via the negatively charged intrinsically disordered region 1 (IDR1) of the protein, allosterically regulated by its positively charged IDR3. Bioinformatic analyses point to the strong mechanistic parallels of these effects with the interaction of R-DPRs with nucleolar nucleophosmin 1 (NPM1) and underscore that R-DPRs interact with many other similar nucleolar and stress-granule proteins, extending the underlying mechanism of R-DPR toxicity in cells. Our results also highlight characteristic differences between the two R-DPRs, poly-GR and poly-PR, and suggest that the primary pathological target of poly-GR is not NPM1 in nucleoli, but G3BP1 in stress granules in affected cells.",
+ "publisher": "Molecular neurodegeneration",
+ "issn": "1750-1326",
+ "date": "2024-12-21",
+ "abstract": "The gene C9orf72 harbors a non-coding hexanucleotide repeat expansion known to cause amyotrophic lateral sclerosis and frontotemporal dementia. While previous studies have estimated the length of this repeat expansion in multiple tissues, technological limitations have impeded researchers from exploring additional features, such as methylation levels.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39621905"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39709476"
},
{
- "id": "pmid:39589881",
+ "id": "pmid:39703094",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39589881",
- "title": "Early disruption of the CREB pathway drives dendritic morphological alterations in FTD/ALS cortical neurons.",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39703094",
+ "title": "C21ORF2 mutations point towards primary cilia dysfunction in amyotrophic lateral sclerosis.",
"type": "article-journal",
- "doi": "10.1073/pnas.2406998121",
+ "doi": "10.1093/brain/awae331",
"authors": [
- ["Michelle", "Jean Gregoire"],
- ["Riccardo", "Sirtori"],
- ["Liviana", "Donatelli"],
- ["Emily", "Morgan Potts"],
- ["Alicia", "Collins"],
- ["Danielo", "Zamor"],
- ["Natallia", "Katenka"],
- ["Claudia", "Fallini"]
+ ["Mathias", "De Decker"],
+ ["Pavol", "Zelina"],
+ ["Thomas G", "Moens"],
+ ["Jimmy", "Beckers"],
+ ["Matilde", "Contardo"],
+ ["Katarina Stoklund", "Dittlau"],
+ ["Evelien", "Van Schoor"],
+ ["Alicja", "Ronisz"],
+ ["Kristel", "Eggermont"],
+ ["Matthieu", "Moisse"],
+ ["Siddharthan", "Chandran"],
+ ["Jan H", "Veldink"],
+ ["Dietmar Rudolf", "Thal"],
+ ["Ludo", "Van Den Bosch"],
+ ["R Jeroen", "Pasterkamp"],
+ ["Philip", "Van Damme"]
],
- "publisher": "Proceedings of the National Academy of Sciences of the United States of America",
- "issn": "1091-6490",
- "date": "2024-11-26",
- "abstract": "Synaptic loss and dendritic degeneration are common pathologies in several neurodegenerative diseases characterized by progressive cognitive and/or motor decline, such as Alzheimer's disease (AD) and frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS). An essential regulator of neuronal health, the cAMP-dependent transcription factor CREB positively regulates synaptic growth, learning, and memory. Phosphorylation of CREB by protein kinase A (PKA) and other cellular kinases promotes neuronal survival and maturation via transcriptional activation of a wide range of downstream target genes. CREB pathway dysfunction has been strongly implicated in AD pathogenesis, and recent data suggest that impaired CREB activation may contribute to disease phenotypes in FTD/ALS as well. However, the mechanisms behind reduced CREB activity in FTD/ALS pathology are not clear. In this study, we found that cortical-like neurons derived from iPSC lines carrying the hexanucleotide repeat expansion in the C9ORF72 gene, a common genetic cause of FTD/ALS, displayed a diminished activation of CREB, resulting in decreased dendritic and synaptic health. Importantly, we determined such impairments to be mechanistically linked to an imbalance in the ratio of regulatory and catalytic subunits of the CREB activator PKA and to be conserved in C9-ALS patient's postmortem tissue. Modulation of cAMP upstream of this impairment allowed for a rescue of CREB activity and an amelioration of dendritic morphology and synaptic protein levels. Our data elucidate the mechanism behind early CREB pathway dysfunction and discern a feasible therapeutic target for the treatment of FTD/ALS and possibly other neurodegenerative diseases.",
+ "publisher": "Brain : a journal of neurology",
+ "issn": "1460-2156",
+ "date": "2024-12-20",
+ "abstract": "Progressive loss of motor neurons is the hallmark of the neurodegenerative disease amyotrophic lateral sclerosis (ALS), but the underlying disease mechanisms remain incompletely understood. In this study, we investigate the effects of C21ORF2 mutations, a gene recently linked to ALS, and find that primary cilia are dysfunctional. Human patient-derived mutant C21ORF2 motor neurons have a reduced ciliary frequency and length. We report that C21ORF2 is located at the basal body of the primary cilium, and mutations associated with ALS alter this localization. Furthermore, we show that a reduction of C21ORF2 levels in cell lines and motor neurons is sufficient to cause fewer primary cilia and reduced cilial length. This ciliary dysfunction leads to defective downstream sonic hedgehog signalling and reduces the expression of cellular retinoic acid binding protein 1 (CRABP1), a protein involved in motor neuron maintenance and survival. In a compartmentalized co-culture system of motor neurons and muscle cells, these ciliary defects were associated with a reduced ability of neuromuscular junction formation. Interestingly, these cilia defects are seemingly not restricted to C21ORF2 ALS, as we also observed perturbed primary cilia in cultured motor neurons and post-mortem motor cortex from patients with the most common genetic subtype of ALS caused by repeat expansions in the C9ORF72 gene. Finally, overexpression of C21ORF2 in mutant C21ORF2 motor neurons rescued the ciliary frequency and length, CRAPBP1 expression and neuromuscular junction formation, confirming the importance of primary cilia for motor neuron function. These results point towards primary cilia dysfunction contributing to motor neuron degeneration in ALS and open new avenues for further research and interventions for this as yet untreatable disease.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39589881"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39703094"
},
{
- "id": "pmid:39581338",
+ "id": "pmid:39670345",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39581338",
- "title": "Studying C9orf72 dipeptide repeat polypeptide aggregation using an analytical ultracentrifuge equipped with fluorescence detection.",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39670345",
+ "title": "Unraveling the molecular basis for G-quadruplex-binders to ALS/FTD-associated G4C2 repeats of the C9orf72 gene.",
"type": "article-journal",
- "doi": "10.1016/j.ab.2024.115720",
+ "doi": "10.1002/cbic.202400974",
"authors": [
- ["Bashkim", "Kokona"],
- ["Nicole R", "Cunningham"],
- ["Jeanne M", "Quinn"],
- ["Danielle R", "Jacobsen"],
- ["F Jay", "Garcia"],
- ["Sierra M", "Galindo"],
- ["Leonard", "Petrucelli"],
- ["Walter F", "Stafford"],
- ["Thomas M", "Laue"],
- ["Robert", "Fairman"]
+ ["Luisa", "D'Anna"],
+ ["Darren", "Wragg"],
+ ["Daniela", "Mauro"],
+ ["Simona", "Rubino"],
+ ["Alessio", "Terenzi"],
+ ["Giampaolo", "Barone"],
+ ["Sophie", "Thomas"],
+ ["Angela", "Casini"],
+ ["Riccardo", "Bonsignore"],
+ ["Angelo", "Spinello"]
],
- "publisher": "Analytical biochemistry",
- "issn": "1096-0309",
- "date": "2024-11-22",
- "abstract": "Sedimentation velocity, using an analytical ultracentrifuge equipped with fluorescence detection, and electrophoresis methods are used to study aggregation of proteins in transgenic animal model systems. Our previous work validated the power of this approach in an analysis of mutant huntingtin aggregation. We demonstrate that this method can be applied to another neurodegenerative disease studying the aggregation of three dipeptide repeats (DPRs) produced by aberrant translation of mutant c9orf72 containing large G",
+ "publisher": "Chembiochem : a European journal of chemical biology",
+ "issn": "1439-7633",
+ "date": "2024-12-13",
+ "abstract": "The most recurrent familial cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is the presence of an abnormal number of intronic GGGGCC (G4C2) repetitions in the C9orf72 gene, which has been proposed to drive ALS/FTD pathogenesis. Recently, it has been shown that such G4C2 repetitions can fold into G-quadruplex (G4) secondary structures. These G4s have been selectively stabilized by small-molecule binders, furnishing proof of principle that targeting these non-canonical nucleic acid sequences represents a novel and effective therapeutic strategy to tackle neurodegenerative disorders. However, precise information on the mechanism of action of these compounds is still lacking. Here, by performing in silico investigations, we unraveled the molecular basis for the selectivity of a series of known structurally related C9orf72 G4-binders. Moreover, we investigated the binding properties of a strong and selective metal-based G4 stabilizer, the AuI bis-N-heterocyclic carbene (NHC) complex - Au(TMX)2 - showing that it moderately stabilizes G4C2 G4 RNA by F\u00f6rster resonance energy transfer (FRET) DNA melting assays. Using metadynamics (metaD) simulations, the Au(TMX)2 binding mode and the associated free-energy landscape were also evaluated. This information paves the way for developing improved compounds to tackle ALS/FTD neurodegenerative disorders.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39581338"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39670345"
},
{
- "id": "pmid:39569145",
+ "id": "pmid:39669124",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39569145",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39669124",
"title": "",
"type": "article-journal",
- "doi": "10.1101/2024.10.26.620312",
+ "doi": "10.1093/narmme/ugae019",
"authors": [
["Mila", "Mirceta"],
["Monika H M", "Schmidt"],
@@ -41415,7 +38056,167 @@
["Bryanna", "Meikle"],
["Stella", "Lanni"],
["Mohiuddin", "Mohiuddin"],
- ["Paul M", "Mckeever"],
+ ["Paul M", "McKeever"],
+ ["Ming", "Zhang"],
+ ["Minggao", "Liang"],
+ ["Ilse", "van der Werf"],
+ ["Stefaan", "Scheers"],
+ ["Patrick A", "Dion"],
+ ["Peixiang", "Wang"],
+ ["Michael D", "Wilson"],
+ ["Theresa", "Abell"],
+ ["Elliot A", "Philips"],
+ ["\u0141ukasz J", "Sznajder"],
+ ["Maurice S", "Swanson"],
+ ["Mustafa", "Mehkary"],
+ ["Mahreen", "Khan"],
+ ["Katsuyuki", "Yokoi"],
+ ["Christine", "Jung"],
+ ["Pieter J", "de Jong"],
+ ["Catherine H", "Freudenreich"],
+ ["Philip", "McGoldrick"],
+ ["Ryan K C", "Yuen"],
+ ["Agessandro", "Abrah\u00e3o"],
+ ["Julia", "Keith"],
+ ["Lorne", "Zinman"],
+ ["Janice", "Robertson"],
+ ["Ekaterina", "Rogaeva"],
+ ["Guy A", "Rouleau"],
+ ["R Frank", "Kooy"],
+ ["Christopher E", "Pearson"]
+ ],
+ "publisher": "NAR molecular medicine",
+ "issn": "2976-856X",
+ "date": "2024-11-12",
+ "abstract": "The hyper-unstable Chr9p21 locus, harbouring the interferon gene cluster, oncogenes and",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39669124"
+},
+{
+ "id": "pmid:39638345",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39638345",
+ "title": "RuvBL1/2 reduce toxic dipeptide repeat protein burden in multiple models of C9orf72-ALS/FTD.",
+ "type": "article-journal",
+ "doi": "10.26508/lsa.202402757",
+ "authors": [
+ ["Christopher P", "Webster"],
+ ["Bradley", "Hall"],
+ ["Olivia M", "Crossley"],
+ ["Dana", "Dauletalina"],
+ ["Marianne", "King"],
+ ["Ya-Hui", "Lin"],
+ ["Lydia M", "Castelli"],
+ ["Zih-Liang", "Yang"],
+ ["Ian", "Coldicott"],
+ ["Ergita", "Kyrgiou-Balli"],
+ ["Adrian", "Higginbottom"],
+ ["Laura", "Ferraiuolo"],
+ ["Kurt J", "De Vos"],
+ ["Guillaume M", "Hautbergue"],
+ ["Pamela J", "Shaw"],
+ ["Ryan Jh", "West"],
+ ["Mimoun", "Azzouz"]
+ ],
+ "publisher": "Life science alliance",
+ "issn": "2575-1077",
+ "date": "2024-12-05",
+ "abstract": "A G4C2 hexanucleotide repeat expansion in",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39638345"
+},
+{
+ "id": "pmid:39621905",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39621905",
+ "title": "C9orf72-linked arginine-rich dipeptide repeats aggravate pathological phase separation of G3BP1.",
+ "type": "article-journal",
+ "doi": "10.1073/pnas.2402847121",
+ "authors": [
+ ["Margot", "Van Nerom"],
+ ["Junaid", "Ahmed"],
+ ["Tamas", "Lazar"],
+ ["Attila", "Meszaros"],
+ ["Quentin", "Galand"],
+ ["Wim", "De Malsche"],
+ ["Joris", "Van Lindt"],
+ ["Rita", "Pancsa"],
+ ["Dominique", "Maes"],
+ ["Peter", "Tompa"]
+ ],
+ "publisher": "Proceedings of the National Academy of Sciences of the United States of America",
+ "issn": "1091-6490",
+ "date": "2024-12-02",
+ "abstract": "The toxic effects of C9orf72-derived arginine-rich dipeptide repeats (R-DPRs) on cellular stress granules in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia remain unclear at the molecular level. Stress granules are formed through the switch of Ras GTPase-activating protein-binding protein 1 (G3BP1) by RNA from a closed inactive state to an open activated state, driving the formation of the organelle by liquid-liquid phase separation (LLPS). We show that R-DPRs bind G3BP1 a thousand times stronger than RNA and initiate LLPS much more effectively. Their pathogenic effect is underscored by the slow transition of R-DPR-G3BP1 droplets to aggregated, ThS-positive states that can recruit ALS-linked proteins hnRNPA1, hnRNPA2, and TDP-43. Deletion constructs and molecular simulations show that R-DPR binding and LLPS are mediated via the negatively charged intrinsically disordered region 1 (IDR1) of the protein, allosterically regulated by its positively charged IDR3. Bioinformatic analyses point to the strong mechanistic parallels of these effects with the interaction of R-DPRs with nucleolar nucleophosmin 1 (NPM1) and underscore that R-DPRs interact with many other similar nucleolar and stress-granule proteins, extending the underlying mechanism of R-DPR toxicity in cells. Our results also highlight characteristic differences between the two R-DPRs, poly-GR and poly-PR, and suggest that the primary pathological target of poly-GR is not NPM1 in nucleoli, but G3BP1 in stress granules in affected cells.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39621905"
+},
+{
+ "id": "pmid:39589881",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39589881",
+ "title": "Early disruption of the CREB pathway drives dendritic morphological alterations in FTD/ALS cortical neurons.",
+ "type": "article-journal",
+ "doi": "10.1073/pnas.2406998121",
+ "authors": [
+ ["Michelle", "Jean Gregoire"],
+ ["Riccardo", "Sirtori"],
+ ["Liviana", "Donatelli"],
+ ["Emily", "Morgan Potts"],
+ ["Alicia", "Collins"],
+ ["Danielo", "Zamor"],
+ ["Natallia", "Katenka"],
+ ["Claudia", "Fallini"]
+ ],
+ "publisher": "Proceedings of the National Academy of Sciences of the United States of America",
+ "issn": "1091-6490",
+ "date": "2024-11-26",
+ "abstract": "Synaptic loss and dendritic degeneration are common pathologies in several neurodegenerative diseases characterized by progressive cognitive and/or motor decline, such as Alzheimer's disease (AD) and frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS). An essential regulator of neuronal health, the cAMP-dependent transcription factor CREB positively regulates synaptic growth, learning, and memory. Phosphorylation of CREB by protein kinase A (PKA) and other cellular kinases promotes neuronal survival and maturation via transcriptional activation of a wide range of downstream target genes. CREB pathway dysfunction has been strongly implicated in AD pathogenesis, and recent data suggest that impaired CREB activation may contribute to disease phenotypes in FTD/ALS as well. However, the mechanisms behind reduced CREB activity in FTD/ALS pathology are not clear. In this study, we found that cortical-like neurons derived from iPSC lines carrying the hexanucleotide repeat expansion in the C9ORF72 gene, a common genetic cause of FTD/ALS, displayed a diminished activation of CREB, resulting in decreased dendritic and synaptic health. Importantly, we determined such impairments to be mechanistically linked to an imbalance in the ratio of regulatory and catalytic subunits of the CREB activator PKA and to be conserved in C9-ALS patient's postmortem tissue. Modulation of cAMP upstream of this impairment allowed for a rescue of CREB activity and an amelioration of dendritic morphology and synaptic protein levels. Our data elucidate the mechanism behind early CREB pathway dysfunction and discern a feasible therapeutic target for the treatment of FTD/ALS and possibly other neurodegenerative diseases.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39589881"
+},
+{
+ "id": "pmid:39581338",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39581338",
+ "title": "Studying C9orf72 dipeptide repeat polypeptide aggregation using an analytical ultracentrifuge equipped with fluorescence detection.",
+ "type": "article-journal",
+ "doi": "10.1016/j.ab.2024.115720",
+ "authors": [
+ ["Bashkim", "Kokona"],
+ ["Nicole R", "Cunningham"],
+ ["Jeanne M", "Quinn"],
+ ["Danielle R", "Jacobsen"],
+ ["F Jay", "Garcia"],
+ ["Sierra M", "Galindo"],
+ ["Leonard", "Petrucelli"],
+ ["Walter F", "Stafford"],
+ ["Thomas M", "Laue"],
+ ["Robert", "Fairman"]
+ ],
+ "publisher": "Analytical biochemistry",
+ "issn": "1096-0309",
+ "date": "2024-11-22",
+ "abstract": "Sedimentation velocity, using an analytical ultracentrifuge equipped with fluorescence detection, and electrophoresis methods are used to study aggregation of proteins in transgenic animal model systems. Our previous work validated the power of this approach in an analysis of mutant huntingtin aggregation. We demonstrate that this method can be applied to another neurodegenerative disease studying the aggregation of three dipeptide repeats (DPRs) produced by aberrant translation of mutant c9orf72 containing large G",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39581338"
+},
+{
+ "id": "pmid:39569145",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39569145",
+ "title": "",
+ "type": "article-journal",
+ "doi": "10.1101/2024.10.26.620312",
+ "authors": [
+ ["Mila", "Mirceta"],
+ ["Monika H M", "Schmidt"],
+ ["Natalie", "Shum"],
+ ["Tanya K", "Prasolava"],
+ ["Bryanna", "Meikle"],
+ ["Stella", "Lanni"],
+ ["Mohiuddin", "Mohiuddin"],
+ ["Paul M", "Mckeever"],
["Ming", "Zhang"],
["Minggao", "Liang"],
["Ilse", "van der Werf"],
@@ -42081,6 +38882,29 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39233852"
},
+{
+ "id": "pmid:39229486",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39229486",
+ "title": "",
+ "type": "article-journal",
+ "doi": "10.1093/braincomms/fcae282",
+ "authors": [
+ ["Jack", "Rivers-Auty"],
+ ["Christopher", "Hoyle"],
+ ["Ayesha", "Pointer"],
+ ["Catherine", "Lawrence"],
+ ["Stuart", "Pickering-Brown"],
+ ["David", "Brough"],
+ ["Sarah", "Ryan"]
+ ],
+ "publisher": "Brain communications",
+ "issn": "2632-1297",
+ "date": "2024-08-20",
+ "abstract": "Frontotemporal dementia and amyotrophic lateral sclerosis are neurodegenerative diseases with considerable clinical, genetic and pathological overlap. The most common cause of both diseases is a hexanucleotide repeat expansion in",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39229486"
+},
{
"id": "pmid:39226712",
"manubot_success": true,
@@ -43593,31 +40417,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38092738"
},
-{
- "id": "pmid:38092667",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38092667",
- "title": "A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease.",
- "type": "article-journal",
- "doi": "10.1111/cge.14472",
- "authors": [
- ["Antonio", "Canosa"],
- ["Sara", "Cabras"],
- ["Francesca", "Di Pede"],
- ["Umberto", "Manera"],
- ["Rosario", "Vasta"],
- ["Cristina", "Moglia"],
- ["Andrea", "Calvo"],
- ["Salvatore", "Gallone"],
- ["Adriano", "Chi\u00f2"]
- ],
- "publisher": "Clinical genetics",
- "issn": "1399-0004",
- "date": "2023-12-13",
- "abstract": "Recently, pathogenic expansions (range 40-64 CAG repeats) in the HTT gene have been found in patients diagnosed with pure frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS). We report a mother with Huntington's disease (HD) associated with motor neuron disease (MND) signs and her daughter suffering from ALS with subtle signs of HD, both carrying a pathogenic allele of the HTT gene (i.e., >39 repeats). The co-occurrence of MND and chorea has been reported in previous cases. Subjects showing both ALS and HD signs and carrying HTT pathogenic expansions in two generations of the same kindred have never been reported so far. The study of the overlap of disease mechanisms at the cellular level between TDP-43 and Huntingtin is relevant in an era offering promising strategies of targeted treatments in neurodegenerative disorders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38092667"
-},
{
"id": "pmid:38064514",
"manubot_success": true,
@@ -45002,6 +41801,37 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37015082"
},
+{
+ "id": "pmid:37010807",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/37010807",
+ "title": "Inflammasome-Mediated Neuronal-Microglial Crosstalk: a Therapeutic Substrate for the Familial C9orf72 Variant of Frontotemporal Dementia/Amyotrophic Lateral Sclerosis.",
+ "type": "article-journal",
+ "doi": "10.1007/s12035-023-03315-w",
+ "authors": [
+ ["Kyle J", "Trageser"],
+ ["Eun-Jeong", "Yang"],
+ ["Chad", "Smith"],
+ ["Ruth", "Iban-Arias"],
+ ["Tatsunori", "Oguchi"],
+ ["Maria", "Sebastian-Valverde"],
+ ["Umar Haris", "Iqbal"],
+ ["Henry", "Wu"],
+ ["Molly", "Estill"],
+ ["Md", "Al Rahim"],
+ ["Urdhva", "Raval"],
+ ["Francis J", "Herman"],
+ ["Yong Jie", "Zhang"],
+ ["Leonard", "Petrucelli"],
+ ["Giulio Maria", "Pasinetti"]
+ ],
+ "publisher": "Molecular neurobiology",
+ "issn": "1559-1182",
+ "date": "2023-04-03",
+ "abstract": "Intronic G",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37010807"
+},
{
"id": "pmid:37006326",
"manubot_success": true,
@@ -45198,6 +42028,29 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36799407"
},
+{
+ "id": "pmid:36764521",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/36764521",
+ "title": "The mTORC2/AKT/VCP axis is associated with quality control of the stalled translation of poly(GR) dipeptide repeats in C9-ALS/FTD.",
+ "type": "article-journal",
+ "doi": "10.1016/j.jbc.2023.102995",
+ "authors": [
+ ["Yu", "Li"],
+ ["Ji", "Geng"],
+ ["Suman", "Rimal"],
+ ["Haochuan", "Wang"],
+ ["Xiangguo", "Liu"],
+ ["Bingwei", "Lu"],
+ ["Shuangxi", "Li"]
+ ],
+ "publisher": "The Journal of biological chemistry",
+ "issn": "1083-351X",
+ "date": "2023-02-09",
+ "abstract": "Expansion of G4C2 hexanucleotide repeats in the chromosome 9 ORF 72 (C9ORF72) gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (C9-ALS/FTD). Dipeptide repeats generated by unconventional translation, especially the R-containing poly(GR), have been implicated in\u00a0C9-ALS/FTD pathogenesis. Mutations in other genes, including TAR DNA-binding protein 43 KD (TDP-43), fused in sarcoma (FUS), and valosin-containing protein, have also been linked to ALS/FTD, and upregulation of amyloid precursor protein (APP) is observed at the early stage of ALS and FTD. Fundamental questions remain as to the relationships between these ALS/FTD genes and whether they converge on similar cellular pathways. Here, using biochemical, cell biological, and genetic analyses in Drosophila disease models, patient-derived fibroblasts, and mammalian cell culture, we show that mechanistic target of rapamycin complex 2 (mTORC2)/AKT signaling is activated by APP, TDP-43, and FUS and that mTORC2/AKT and its downstream target valosin-containing protein mediate the effect of APP, TDP-43, and FUS on the quality control of C9-ALS/FTD-associated poly(GR) translation. We also find that poly(GR) expression results in reduction of global translation and that the coexpression of APP, TDP-43, and FUS results in further reduction of global translation, presumably through the GCN2/eIF2\u03b1-integrated stress response pathway. Together, our results implicate mTORC2/AKT signaling and GCN2/eIF2\u03b1-integrated stress response as common signaling pathways underlying ALS/FTD pathogenesis.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36764521"
+},
{
"id": "pmid:36711601",
"manubot_success": true,
@@ -49267,27 +46120,9 @@
},
{
"id": "pmid:33661518",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33661518",
- "title": "Chemical chaperones targeted to the endoplasmic reticulum (ER) and lysosome prevented neurodegeneration in a C9orf72 repeat expansion drosophila amyotrophic lateral sclerosis (ALS) model.",
- "type": "article-journal",
- "doi": "10.1007/s43440-021-00226-2",
- "authors": [
- ["Salome", "Azoulay-Ginsburg"],
- ["Michela", "Di Salvio"],
- ["Michal", "Weitman"],
- ["Michal", "Afri"],
- ["Sara", "Ribeiro"],
- ["Simon", "Ebbinghaus"],
- ["Gianluca", "Cestra"],
- ["Arie", "Gruzman"]
- ],
- "publisher": "Pharmacological reports : PR",
- "issn": "2299-5684",
- "date": "2021-03-04",
- "abstract": "ALS is an incurable neuromuscular degenerative disorder. A familiar form of the disease (fALS) is related to point mutations. The most common one is an expansion of a noncoding GGGGCC hexanucleotide repeat of the C9orf72 gene on chromosome 9p21. An abnormal translation of the C9orf72 gene generates dipeptide repeat proteins that aggregate in the brain. One of the classical approaches for developing treatment against protein aggregation-related diseases is to use chemical chaperones (CSs). In this work, we describe the development of novel 4-phenylbutyric acid (4-PBA) lysosome/ER-targeted derivatives. We assumed that 4-PBA targeting to specific organelles, where protein degradation takes place, might reduce the 4-PBA effective concentration.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33661518"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/33661518",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:33661518']' timed out after 3 seconds"
},
{
"id": "pmid:33619157",
@@ -49709,71 +46544,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33253636"
},
-{
- "id": "pmid:33242422",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33242422",
- "title": "Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.",
- "type": "article-journal",
- "doi": "10.1016/j.neuron.2020.11.005",
- "authors": [
- ["Ramita", "Dewan"],
- ["Ruth", "Chia"],
- ["Jinhui", "Ding"],
- ["Richard A", "Hickman"],
- ["Thor D", "Stein"],
- ["Yevgeniya", "Abramzon"],
- ["Sarah", "Ahmed"],
- ["Marya S", "Sabir"],
- ["Makayla K", "Portley"],
- ["Arianna", "Tucci"],
- ["Kristina", "Ib\u00e1\u00f1ez"],
- ["F N U", "Shankaracharya"],
- ["Pamela", "Keagle"],
- ["Giacomina", "Rossi"],
- ["Paola", "Caroppo"],
- ["Fabrizio", "Tagliavini"],
- ["Maria L", "Waldo"],
- ["Per M", "Johansson"],
- ["Christer F", "Nilsson"],
- ["James B", "Rowe"],
- ["Luisa", "Benussi"],
- ["Giuliano", "Binetti"],
- ["Roberta", "Ghidoni"],
- ["Edwin", "Jabbari"],
- ["Coralie", "Viollet"],
- ["Jonathan D", "Glass"],
- ["Andrew B", "Singleton"],
- ["Vincenzo", "Silani"],
- ["Owen A", "Ross"],
- ["Mina", "Ryten"],
- ["Ali", "Torkamani"],
- ["Toshiko", "Tanaka"],
- ["Luigi", "Ferrucci"],
- ["Susan M", "Resnick"],
- ["Stuart", "Pickering-Brown"],
- ["Christopher B", "Brady"],
- ["Neil", "Kowal"],
- ["John A", "Hardy"],
- ["Vivianna", "Van Deerlin"],
- ["Jean Paul", "Vonsattel"],
- ["Matthew B", "Harms"],
- ["Huw R", "Morris"],
- ["Raffaele", "Ferrari"],
- ["John E", "Landers"],
- ["Adriano", "Chi\u00f2"],
- ["J Raphael", "Gibbs"],
- ["Clifton L", "Dalgard"],
- ["Sonja W", "Scholz"],
- ["Bryan J", "Traynor"]
- ],
- "publisher": "Neuron",
- "issn": "1097-4199",
- "date": "2020-11-26",
- "abstract": "We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40-64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington's disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33242422"
-},
{
"id": "pmid:33196168",
"manubot_success": true,
@@ -50076,6 +46846,35 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32958650"
},
+{
+ "id": "pmid:32949047",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/32949047",
+ "title": "Necrosome-positive granulovacuolar degeneration is associated with TDP-43 pathological lesions in the hippocampus of ALS/FTLD cases.",
+ "type": "article-journal",
+ "doi": "10.1111/nan.12668",
+ "authors": [
+ ["E", "Van Schoor"],
+ ["M J", "Koper"],
+ ["S", "Ospitalieri"],
+ ["L", "Dedeene"],
+ ["S O", "Tom\u00e9"],
+ ["R", "Vandenberghe"],
+ ["D", "Brenner"],
+ ["M", "Otto"],
+ ["J", "Weishaupt"],
+ ["A C", "Ludolph"],
+ ["P", "Van Damme"],
+ ["L", "Van Den Bosch"],
+ ["D R", "Thal"]
+ ],
+ "publisher": "Neuropathology and applied neurobiology",
+ "issn": "1365-2990",
+ "date": "2020-10-20",
+ "abstract": "Granulovacuolar degeneration (GVD) in Alzheimer's disease (AD) involves the necrosome, which is a protein complex consisting of phosphorylated receptor-interacting protein kinase 1 (pRIPK1), pRIPK3 and phosphorylated mixed lineage kinase domain-like protein (pMLKL). Necrosome-positive GVD was associated with neuron loss in AD. GVD was recently linked to the C9ORF72 mutation in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with transactive response DNA-binding protein (TDP-43) pathology (FTLD-TDP). Therefore, we investigated whether GVD in cases of the ALS-FTLD-TDP spectrum (ALS/FTLD) shows a similar involvement of the necrosome as in AD, and whether it correlates with diagnosis, presence of protein aggregates and cell death in ALS/FTLD.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32949047"
+},
{
"id": "pmid:32921502",
"manubot_success": true,
@@ -51986,27 +48785,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31676125"
},
-{
- "id": "pmid:31665086",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/31665086",
- "title": "Neuropathology of RAN translation proteins in fragile X-associated tremor/ataxia syndrome.",
- "type": "article-journal",
- "doi": "10.1186/s40478-019-0782-7",
- "authors": [
- ["Amy", "Krans"],
- ["Geena", "Skariah"],
- ["Yuan", "Zhang"],
- ["Bryana", "Bayly"],
- ["Peter K", "Todd"]
- ],
- "publisher": "Acta neuropathologica communications",
- "issn": "2051-5960",
- "date": "2019-10-30",
- "abstract": "CGG repeat expansions in FMR1 cause the neurodegenerative disorder Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). Ubiquitinated neuronal intranuclear inclusions (NIIs) are the neuropathological hallmark of FXTAS. Both sense strand derived CGG repeats and antisense strand derived CCG repeats support non-AUG initiated (RAN) translation of homopolymeric proteins in potentially 6 different reading frames. However, the relative abundance of these proteins in FXTAS brains and their co-localization with each other and NIIs is lacking. Here we describe rater-blinded assessment of immunohistochemical and immunofluorescence staining with newly generated antibodies to different CGG RAN translation products in FXTAS and control brains as well as co-staining with ubiquitin, p62/SQSTM1, and ubiquilin 2. We find that both FMRpolyG and a second CGG repeat derived RAN translation product, FMRpolyA, accumulate in aggregates in FXTAS brains. FMRpolyG is a near-obligate component of both ubiquitin-positive and p62-positive NIIs in FXTAS, with occurrence of aggregates in 20% of all hippocampal neurons and\u2009>\u200990% of all inclusions. A subset of these inclusions also stain positive for the ALS/FTD associated protein ubiquilin 2. Ubiquitinated inclusions and FMRpolyG+ aggregates are rarer in cortex and cerebellum. Intriguingly, FMRpolyG staining is also visible in control neuronal nuclei. In contrast to FMRpolyG, staining for FMRpolyA and CCG antisense derived RAN translation products were less abundant and less frequent components of ubiquitinated inclusions. In conclusion, RAN translated FMRpolyG is a common component of ubiquitin and p62 positive inclusions in FXTAS patient brains.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31665086"
-},
{
"id": "pmid:31651360",
"manubot_success": true,
@@ -54480,6 +51258,31 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30210275"
},
+{
+ "id": "pmid:30150298",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/30150298",
+ "title": "The",
+ "type": "article-journal",
+ "doi": "10.1128/mcb.00155-18",
+ "authors": [
+ ["Vitalay", "Fomin"],
+ ["Patricia", "Richard"],
+ ["Mainul", "Hoque"],
+ ["Cynthia", "Li"],
+ ["Zhuoying", "Gu"],
+ ["Mercedes", "Fissore-O'Leary"],
+ ["Bin", "Tian"],
+ ["Carol", "Prives"],
+ ["James L", "Manley"]
+ ],
+ "publisher": "Molecular and cellular biology",
+ "issn": "1098-5549",
+ "date": "2018-10-29",
+ "abstract": "A GGGGCC repeat expansion in the",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30150298"
+},
{
"id": "pmid:30126445",
"manubot_success": true,
@@ -55679,6 +52482,25 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29302060"
},
+{
+ "id": "pmid:29281254",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/29281254",
+ "title": "Structural and Dynamical Characterization of DNA and RNA Quadruplexes Obtained from the GGGGCC and GGGCCT Hexanucleotide Repeats Associated with C9FTD/ALS and SCA36 Diseases.",
+ "type": "article-journal",
+ "doi": "10.1021/acschemneuro.7b00476",
+ "authors": [
+ ["Yuan", "Zhang"],
+ ["Christopher", "Roland"],
+ ["Celeste", "Sagui"]
+ ],
+ "publisher": "ACS chemical neuroscience",
+ "issn": "1948-7193",
+ "date": "2018-01-12",
+ "abstract": "A (GGGGCC) hexanucleotide repeat (HR) expansion in the C9ORF72 gene has been considered the major cause behind both frontotemporal dementia and amyotrophic lateral sclerosis, while a (GGGCCT) is associated with spinocerebellar ataxia 36. Recent experiments involving NMR, CD, optical melting and 1D",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29281254"
+},
{
"id": "pmid:29264395",
"manubot_success": true,
@@ -57584,40 +54406,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28088213"
},
-{
- "id": "pmid:28069311",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/28069311",
- "title": "Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients.",
- "type": "article-journal",
- "doi": "10.1016/j.neurobiolaging.2016.12.008",
- "authors": [
- ["Federica", "Perrone"],
- ["Hung Phuoc", "Nguyen"],
- ["Sara", "Van Mossevelde"],
- ["Matthieu", "Moisse"],
- ["Anne", "Sieben"],
- ["Patrick", "Santens"],
- ["Jan", "De Bleecker"],
- ["Mathieu", "Vandenbulcke"],
- ["Sebastiaan", "Engelborghs"],
- ["Jonathan", "Baets"],
- ["Patrick", "Cras"],
- ["Rik", "Vandenberghe"],
- ["Peter", "De Jonghe"],
- ["Peter P", "De Deyn"],
- ["Jean-Jacques", "Martin"],
- ["Philip", "Van Damme"],
- ["Christine", "Van Broeckhoven"],
- ["Julie", "van der Zee"]
- ],
- "publisher": "Neurobiology of aging",
- "issn": "1558-1497",
- "date": "2016-12-21",
- "abstract": "Mutation screening and phenotypic profiling of 2 amyotrophic lateral sclerosis-(ALS) and frontotemporal dementia-(FTD) associated genes, CHCHD10 and TUBA4A, were performed in a Belgian cohort of 459 FTD, 28 FTD-ALS, and 429 ALS patients. In CHCHD10, we identified a novel nonsense mutation (p.Gln108*) in a patient with atypical clinical FTD and pathology-confirmed Parkinson's disease (1/459, 0.22%) leading to loss of transcript. We further observed 3 previously described missense variants (p.Pro34Ser, p.Pro80Leu, and p.Pro96Thr) that were also present in the matched control series. In TUBA4A, we detected a novel frameshift mutation (p.Arg64Glyfs*90) leading to a truncated protein in 1 FTD patient (1/459 of 0.22%) with family history of Parkinson's disease and cognitive impairment, and a novel missense mutation (p.Thr381Met) in 2 sibs with familial ALS and memory problems (1 index patient/429, 0.23%) in whom we previously identified a pathogenic Chromosome 9 open reading frame 72 repeat expansion mutation. The present study confirms the role of CHCHD10 and TUBA4A in the FTD-ALS spectrum, although genetic variations in these 2 genes are extremely rare in the Belgian population and often associated with symptomatology of related neurodegenerative diseases including Parkinson's disease and Alzheimer's disease.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28069311"
-},
{
"id": "pmid:28010125",
"manubot_success": true,
@@ -57720,6 +54508,25 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27936955"
},
+{
+ "id": "pmid:27933757",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/27933757",
+ "title": "Structure and Dynamics of DNA and RNA Double Helices Obtained from the GGGGCC and CCCCGG Hexanucleotide Repeats That Are the Hallmark of C9FTD/ALS Diseases.",
+ "type": "article-journal",
+ "doi": "10.1021/acschemneuro.6b00348",
+ "authors": [
+ ["Yuan", "Zhang"],
+ ["Christopher", "Roland"],
+ ["Celeste", "Sagui"]
+ ],
+ "publisher": "ACS chemical neuroscience",
+ "issn": "1948-7193",
+ "date": "2016-12-19",
+ "abstract": "A (GGGGCC) hexanucleotide repeat (HR) expansion in the C9ORF72 gene, and its associated antisense (CCCCGG) expansion, are considered the major cause behind frontotemporal dementia and amyotrophic lateral sclerosis. We have performed molecular dynamics simulations to characterize the conformation and dynamics of the 12 duplexes that result from the three different reading frames in sense and antisense HRs for both DNA and RNA. These duplexes display atypical structures relevant not only for a molecular level understanding of these diseases but also for enlarging the repertoire of nucleic-acid structural motifs. G-rich helices share common features. The inner G-G mismatches stay inside the helix in G",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27933757"
+},
{
"id": "pmid:27875531",
"manubot_success": true,
@@ -58162,6 +54969,42 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27666590"
},
+{
+ "id": "pmid:27663272",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/27663272",
+ "title": "C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis.",
+ "type": "article-journal",
+ "doi": "10.1136/jnnp-2016-314093",
+ "authors": [
+ ["James", "Rooney"],
+ ["Isabella", "Fogh"],
+ ["Henk-Jan", "Westeneng"],
+ ["Alice", "Vajda"],
+ ["Russell", "McLaughlin"],
+ ["Mark", "Heverin"],
+ ["Ashley", "Jones"],
+ ["Ruben", "van Eijk"],
+ ["Andrea", "Calvo"],
+ ["Letizia", "Mazzini"],
+ ["Christopher", "Shaw"],
+ ["Karen", "Morrison"],
+ ["Pamela J", "Shaw"],
+ ["Wim", "Robberecht"],
+ ["Phillip", "Van Damme"],
+ ["Ammar", "Al-Chalabi"],
+ ["Leonard", "van den Berg"],
+ ["Adriano", "Chi\u00f2"],
+ ["Jan", "Veldink"],
+ ["Orla", "Hardiman"]
+ ],
+ "publisher": "Journal of neurology, neurosurgery, and psychiatry",
+ "issn": "1468-330X",
+ "date": "2016-09-23",
+ "abstract": "The",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27663272"
+},
{
"id": "pmid:27652840",
"manubot_success": true,
@@ -63533,6 +60376,32 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24096617"
},
+{
+ "id": "pmid:24080172",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/24080172",
+ "title": "Familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma.",
+ "type": "article-journal",
+ "doi": "10.1016/j.neurobiolaging.2013.08.021",
+ "authors": [
+ ["Raffaele", "Ferrari"],
+ ["Mia", "Kero"],
+ ["Kin", "Mok"],
+ ["Anders", "Paetau"],
+ ["Pentti J", "Tienari"],
+ ["Olli", "Tynninen"],
+ ["John", "Hardy"],
+ ["Parastoo", "Momeni"],
+ ["Auli", "Verkkoniemi-Ahola"],
+ ["Liisa", "Myllykangas"]
+ ],
+ "publisher": "Neurobiology of aging",
+ "issn": "1558-1497",
+ "date": "2013-09-27",
+ "abstract": "A hexanucleotide repeat expansion in the chromosome 9 open reading frame 72 gene (C9orf72) was recently identified as the most common genetic cause of frontotemporal dementia/amyotrophic lateral sclerosis. Here we describe the clinical, pathologic, and genetic features of a Finnish C9orf72 expansion carrier, who developed a dysplastic gangliocytoma (Lhermitte-Duclos disease), a rare hamartoma/overgrowth syndrome of cerebellar granule cells associated with mutations in the phosphatase and tensin homolog gene. In addition to the dysplastic gangliocytoma, the patient showed typical transactive response DNA-binding protein with Mr 43 kD (TDP-43) pathology mainly in the cortex and the substantia nigra and numerous p62-positive/TDP-43-negative inclusions in the cerebellar granule cells. His sister carried the same gene defect and showed a similar type of TDP-43/p62 pathology in her brain. Our findings confirm that the clinical and pathologic picture of C9orf72 mutation carriers is more heterogeneous than originally thought and warrants further studies on the possible involvement of phosphatase and tensin homolog gene pathway in the specific cerebellar granule cell pathology associated with C9orf72 expansion.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24080172"
+},
{
"id": "pmid:24077574",
"manubot_success": true,
@@ -66440,6 +63309,34 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22708871"
},
+{
+ "id": "pmid:22702520",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/22702520",
+ "title": "Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlation.",
+ "type": "article-journal",
+ "doi": "10.1111/j.1440-1789.2012.01332.x",
+ "authors": [
+ ["Eileen H", "Bigio"],
+ ["Sandra", "Weintraub"],
+ ["Rosa", "Rademakers"],
+ ["Matt", "Baker"],
+ ["Saman S", "Ahmadian"],
+ ["Alfred", "Rademaker"],
+ ["Bing Bing", "Weitner"],
+ ["Qinwen", "Mao"],
+ ["Kyung-Hwa", "Lee"],
+ ["Manjari", "Mishra"],
+ ["Rakhee A", "Ganti"],
+ ["M-Marsel", "Mesulam"]
+ ],
+ "publisher": "Neuropathology : official journal of the Japanese Society of Neuropathology",
+ "issn": "1440-1789",
+ "date": "2012-06-18",
+ "abstract": "Mutations in C9ORF72 resulting in expanded hexanucleotide repeats were recently reported to be the underlying genetic abnormality in chromosome 9p-linked frontotemporal lobar degeneration with TAR DNA-binding protein of 43 kD (TDP-43) proteinopathy (FTLD-TDP), amyotrophic lateral sclerosis (ALS), and frontotemporal lobar degeneration with motor neuron disease (FTLD-MND). Several subsequent publications described the neuropathology as being similar to that of FTLD-TDP and ALS without C9ORF72 mutations, except that cases with mutations have p62 and ubiquitin positive, TDP-43 negative inclusions in cerebellum, hippocampus, neocortex, and basal ganglia. The identity of this protein is as yet unknown, and its significance is unclear. With the goal of potentially uncovering the significance of these inclusions, we compared the clinical, pathologic and genetic characteristics in cases with C9ORF72 mutations to those without. We confirmed the apparent specificity of p62 positive, TDP-43 negative inclusions to cases with C9ORF72 mutations. In hippocampus, these inclusions correlated with hippocampal atrophy. No additional correlations were uncovered. However, this is the first report to show that although most cases with C9ORF72 mutations were TDP type B, some of the pathologic characteristics in these cases were more similar to TDP types A and C than to type B cases. These include greater cortical and hippocampal atrophy, greater ventricular dilatation, more neuronal loss and gliosis in temporal lobe and striatum, and TDP-43 positive fine neuritic profiles in the hippocampus, implying that the C9ORF72 mutation modifies the pathologic phenotype of FTLD-TDP type B.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22702520"
+},
{
"id": "pmid:22692064",
"manubot_success": true,
@@ -67595,32 +64492,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21944779"
},
-{
- "id": "pmid:39507594",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39507594",
- "title": "Early Peripheral Nerve Involvement at the Time of Coughing in Patients With",
- "type": "article-journal",
- "doi": "10.1212/nxg.0000000000200166",
- "authors": [
- ["Simon", "Frachet"],
- ["Pauline", "Chazelas"],
- ["Laurent", "Magy"],
- ["Pascal", "Cintas"],
- ["Danielle", "Brouqui\u00e8res"],
- ["Pierre", "Girardie"],
- ["Louise", "Espagno"],
- ["Boris", "Melloni"],
- ["Laurent", "Guilleminault"],
- ["Anne-Sophie", "Lia"]
- ],
- "publisher": "Neurology. Genetics",
- "issn": "2376-7839",
- "date": "2024-07-19",
- "abstract": "Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome results from variations in",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39507594"
-},
{
"id": "pmid:39152783",
"manubot_success": true,
@@ -67647,173 +64518,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39152783"
},
-{
- "id": "pmid:38837871",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38837871",
- "title": "Global sensitivity analysis with multifidelity Monte Carlo and polynomial chaos expansion for vascular haemodynamics.",
- "type": "article-journal",
- "doi": "10.1002/cnm.3836",
- "authors": [
- ["Friederike", "Sch\u00e4fer"],
- ["Daniele E", "Schiavazzi"],
- ["Leif Rune", "Hellevik"],
- ["Jacob", "Sturdy"]
- ],
- "publisher": "International journal for numerical methods in biomedical engineering",
- "issn": "2040-7947",
- "date": "2024-06-05",
- "abstract": "Computational models of the cardiovascular system are increasingly used for the diagnosis, treatment, and prevention of cardiovascular disease. Before being used for translational applications, the predictive abilities of these models need to be thoroughly demonstrated through verification, validation, and uncertainty quantification. When results depend on multiple uncertain inputs, sensitivity analysis is typically the first step required to separate relevant from unimportant inputs, and is key to determine an initial reduction on the problem dimensionality that will significantly affect the cost of all downstream analysis tasks. For computationally expensive models with numerous uncertain inputs, sample-based sensitivity analysis may become impractical due to the substantial number of model evaluations it typically necessitates. To overcome this limitation, we consider recently proposed Multifidelity Monte Carlo estimators for Sobol' sensitivity indices, and demonstrate their applicability to an idealized model of the common carotid artery. Variance reduction is achieved combining a small number of three-dimensional fluid-structure interaction simulations with affordable one- and zero-dimensional reduced-order models. These multifidelity Monte Carlo estimators are compared with traditional Monte Carlo and polynomial chaos expansion estimates. Specifically, we show consistent sensitivity ranks for both bi- (1D/0D) and tri-fidelity (3D/1D/0D) estimators, and superior variance reduction compared to traditional single-fidelity Monte Carlo estimators for the same computational budget. As the computational burden of Monte Carlo estimators for Sobol' indices is significantly affected by the problem dimensionality, polynomial chaos expansion is found to have lower computational cost for idealized models with smooth stochastic response.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38837871"
-},
-{
- "id": "pmid:38833105",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38833105",
- "title": "Spot sign score is associated with hematoma expansion and longer hospital stay but not functional outcomes in primary intracerebral hemorrhage survivors.",
- "type": "article-journal",
- "doi": "10.1007/s11604-024-01597-1",
- "authors": [
- ["Wen-Che", "Tseng"],
- ["Yu-Fen", "Wang"],
- ["Hsin-Shui", "Chen"],
- ["Tyng-Guey", "Wang"],
- ["Ming-Yen", "Hsiao"]
- ],
- "publisher": "Japanese journal of radiology",
- "issn": "1867-108X",
- "date": "2024-06-04",
- "abstract": "The computed tomography angiography (CTA) spot sign is a validated predictor of 30-day mortality in intracerebral hemorrhage (ICH). However, its role in predicting unfavorable functional outcomes remains unclear. This study explores the frequency of the spot sign and its association with functional outcomes, hematoma expansion, and length of hospital stay among survivors of ICH.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38833105"
-},
-{
- "id": "pmid:38062616",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38062616",
- "title": "RNA Foci in Two bi-Allelic RFC1 Expansion Carriers.",
- "type": "article-journal",
- "doi": "10.1002/ana.26848",
- "authors": [
- ["Taishi", "Wada"],
- ["Hiroshi", "Doi"],
- ["Masaki", "Okubo"],
- ["Mikiko", "Tada"],
- ["Naohisa", "Ueda"],
- ["Hidefumi", "Suzuki"],
- ["Wakana", "Tominaga"],
- ["Haruki", "Koike"],
- ["Hiroyasu", "Komiya"],
- ["Shun", "Kubota"],
- ["Shunta", "Hashiguchi"],
- ["Haruko", "Nakamura"],
- ["Keita", "Takahashi"],
- ["Misako", "Kunii"],
- ["Kenichi", "Tanaka"],
- ["Yosuke", "Miyaji"],
- ["Yuichi", "Higashiyama"],
- ["Eriko", "Koshimizu"],
- ["Satoko", "Miyatake"],
- ["Masahisa", "Katsuno"],
- ["Satoshi", "Fujii"],
- ["Hidehisa", "Takahashi"],
- ["Naomichi", "Matsumoto"],
- ["Hideyuki", "Takeuchi"],
- ["Fumiaki", "Tanaka"]
- ],
- "publisher": "Annals of neurology",
- "issn": "1531-8249",
- "date": "2023-12-27",
- "abstract": "Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a late-onset, autosomal recessive neurodegenerative disorder caused by biallelic AAGGG/ACAGG repeat expansion (AAGGG-exp/ACAGG-exp) in RFC1. The recent identification of patients with CANVAS exhibiting compound heterozygosity for AAGGG-exp and truncating variants supports the loss-of-function of RFC1 in CANVAS patients. We investigated the pathological changes in 2 autopsied patients with CANVAS harboring biallelic ACAGG-exp and AAGGG-exp. RNA fluorescence in situ hybridization of the 2 patients revealed CCTGT- and CCCTT-containing RNA foci, respectively, in neuronal nuclei of tissues with neuronal loss. Our findings suggest that RNA toxicity may be involved in the pathogenesis of CANVAS. ANN NEUROL 2024;95:607-613.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38062616"
-},
-{
- "id": "pmid:37927489",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37927489",
- "title": "PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations.",
- "type": "article-journal",
- "doi": "10.1002/jmd2.12396",
- "authors": [
- ["Rodrigo Tzovenos", "Starosta"],
- ["Nino", "Kerashvili"],
- ["Cassandra", "Pruitt"],
- ["Matthew J", "Schultz"],
- ["Suzanne W", "Boyer"],
- ["Eva", "Morava"],
- ["Maria Laura Duque", "Lasio"],
- ["Dorothy K", "Grange"]
- ],
- "publisher": "JIMD reports",
- "issn": "2192-8304",
- "date": "2023-09-20",
- "abstract": "The phosphatidylinositol glycan anchor biosynthesis class O protein (PIGO) enzyme is an important step in the biosynthesis of glycosylphosphatidylinositol (GPI), which is essential for the membrane anchoring of several proteins. Bi-allelic pathogenic variants in",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37927489"
-},
-{
- "id": "pmid:37917284",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37917284",
- "title": "Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort.",
- "type": "article-journal",
- "doi": "10.1007/s10048-023-00736-6",
- "authors": [
- ["Nishu", "Tyagi"],
- ["Bharathram", "Uppili"],
- ["Pooja", "Sharma"],
- ["Shaista", "Parveen"],
- ["Sheeba", "Saifi"],
- ["Abhinav", "Jain"],
- ["Akhilesh", "Sonakar"],
- ["Istaq", "Ahmed"],
- ["Shweta", "Sahni"],
- ["Uzma", "Shamim"],
- ["Avni", "Anand"],
- ["Varun", "Suroliya"],
- ["Vivekanand", "Asokachandran"],
- ["Achal", "Srivastava"],
- ["Sridhar", "Sivasubbu"],
- ["Vinod", "Scaria"],
- ["Mohammed", "Faruq"]
- ],
- "publisher": "Neurogenetics",
- "issn": "1364-6753",
- "date": "2023-11-02",
- "abstract": "An intronic bi-allelic pentanucleotide repeat expansion mutation, (AAGGG)",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37917284"
-},
-{
- "id": "pmid:37454032",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37454032",
- "title": "Establishment and characterization of a novel dedifferentiated chondrosarcoma cell line, SMU-DDCS, harboring an IDH1 mutation.",
- "type": "article-journal",
- "doi": "10.1007/s13577-023-00944-0",
- "authors": [
- ["Makoto", "Emori"],
- ["Naoya", "Nakahashi"],
- ["Akira", "Takasawa"],
- ["Kenji", "Murata"],
- ["Yasutaka", "Murahashi"],
- ["Junya", "Shimizu"],
- ["Tomohide", "Tsukahara"],
- ["Shintaro", "Sugita"],
- ["Kohichi", "Takada"],
- ["Tadashi", "Hasegawa"],
- ["Makoto", "Osanai"],
- ["Kosuke", "Iba"]
- ],
- "publisher": "Human cell",
- "issn": "1749-0774",
- "date": "2023-07-15",
- "abstract": "Dedifferentiated chondrosarcoma (DDCS) is a high-grade subtype with a bi-morphic histological appearance of a conventional chondrosarcoma component and it can abruptly transition to a high-grade non-cartilaginous sarcoma. To better understand the biological features of DDCSs and to help develop new therapies, a novel DDCS cell line, SMU-DDCS, was established. Tissue from an open biopsy of a tumor resected from a 75-year-old patient was subjected to primary culture. The cell line was established and authenticated by assessing DNA microsatellite short tandem repeats. The cells maintained in monolayer cultures exhibited constant growth, spheroid formation, and high invasive capacity. Out of the four mice inoculated with SMU-DDCS cells, tumors developed in three mice after 2\u00a0weeks. R132C mutation was found in the IDH1 but not the IDH2 genomic DNA sequence of SMU-DDCS cells. SMU-DDCS cells exhibited low chemosensitivity to doxorubicin, methotrexate, and cisplatin. This SMU-DDCS cell line harboring an IDH1 mutation will be a useful tool for investigating DDCS development and for evaluating novel therapeutic agents against it.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37454032"
-},
{
"id": "pmid:37307504",
"manubot_success": true,
@@ -67932,194 +64636,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37301203"
},
-{
- "id": "pmid:36528522",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36528522",
- "title": "A Phase I, Open-Label, Dose Confirmation, Escalation, and Expansion Trial of BI 1810631 as Monotherapy in Patients With Advanced or Metastatic Solid Tumors With HER2 Aberrations.",
- "type": "article-journal",
- "doi": "10.1016/j.cllc.2022.10.008",
- "authors": [
- ["John", "Heymach"],
- ["Frans", "Opdam"],
- ["Minal", "Barve"],
- ["Neil", "Gibson"],
- ["Behbood", "Sadrolhefazi"],
- ["Josep", "Serra"],
- ["Noboru", "Yamamoto"]
- ],
- "publisher": "Clinical lung cancer",
- "issn": "1938-0690",
- "date": "2022-11-11",
- "abstract": "BI 1810631 is a human HER2-selective tyrosine kinase inhibitor that covalently binds to both wild-type and mutated HER2 receptors, including exon 20 insertion mutations, whilst sparing EGFR signaling. This phase Ia/Ib, open-label, non-randomized study will determine the safety, maximum tolerated dose (MTD), pharmacokinetics (PK), pharmacodynamics, and preliminary efficacy of BI 1810631 in patients with HER2 aberration-positive solid tumors (NCT04886804).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36528522"
-},
-{
- "id": "pmid:36427954",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36427954",
- "title": "The microbiota-gut-brain axis in Huntington's disease.",
- "type": "article-journal",
- "doi": "10.1016/bs.irn.2022.06.005",
- "authors": [
- ["Chloe J", "Love"],
- ["Bethany A", "Masson"],
- ["Carolina", "Gubert"],
- ["Anthony J", "Hannan"]
- ],
- "publisher": "International review of neurobiology",
- "issn": "2162-5514",
- "date": "2022-10-28",
- "abstract": "Huntington's disease (HD) is a fatal neurodegenerative disorder caused by an autosomal dominant trinucleotide (CAG) tandem repeat, resulting in complex motor, psychiatric and cognitive symptoms as well as gastrointestinal disturbances and other peripheral symptoms. There are currently no disease-modifying treatments, and the peripheral pathology of the disorder is not well understood. Emerging evidence suggests that the bi-directional communication pathways between the gut and the brain, including the microbiota-gut-brain axis, can affect motor, psychiatric and cognitive symptoms as well as weight loss and sexual dimorphism seen in HD. Furthermore, both HD and the microbiota-gut-brain axis can be influenced by environmental factors, opening potential new avenues to explore therapeutic options for this devastating disorder.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36427954"
-},
-{
- "id": "pmid:36410285",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36410285",
- "title": "Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.",
- "type": "article-journal",
- "doi": "10.1016/j.ejpn.2022.11.003",
- "authors": [
- ["Fleur", "Vansenne"],
- ["Johanna M", "Fock"],
- ["Irene", "Stolte-Dijkstra"],
- ["Linda C", "Meiners"],
- ["Marie-Jose H", "van den Boogaard"],
- ["Bregje", "Jaeger"],
- ["Ludolf", "Boven"],
- ["Yvonne J", "Vos"],
- ["Richard J", "Sinke"],
- ["Dineke S", "Verbeek"]
- ],
- "publisher": "European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society",
- "issn": "1532-2130",
- "date": "2022-11-12",
- "abstract": "Vici syndrome (OMIM 242840) is a very rare autosomal recessive multisystem disorder first described in 1988. In 2013, bi-allelic loss-of-function mutations in EPG5 were reported to cause Vici syndrome. Five principal diagnostic features of Vici syndrome have been proposed: agenesis of the corpus callosum, cataracts, cardiomyopathy, hypopigmentation, and combined immunodeficiency. We identified 15 patients carrying a homozygous founder missense variant in EPG5 who all exhibit a less severe clinical phenotype than classic Vici syndrome. All 15 show typical brain abnormalities on MRI. The homozygous founder variant in EPG5 they carry results in a shorter in-frame transcript and truncated, but likely still residual, EPG5 protein. We speculate that the residual EPG5 protein explains their attenuated phenotype, which is consistent with two previous observations that low expression of EPG5 can lead to an attenuated Vici syndrome phenotype. We propose renaming this condition EPG5-related neurodevelopmental disorder to emphasize the clinical variability of patients with bi-allelic mutations in EPG5.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36410285"
-},
-{
- "id": "pmid:36122674",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36122674",
- "title": "AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.",
- "type": "article-journal",
- "doi": "10.1016/j.ejmg.2022.104620",
- "authors": [
- ["Kamran", "Salayev"],
- ["Clarissa", "Rocca"],
- ["Rauan", "Kaiyrzhanov"],
- ["Ulviyya", "Guliyeva"],
- ["Sughra", "Guliyeva"],
- ["Aytan", "Mursalova"],
- ["Fatima", "Rahman"],
- ["Najwa", "Anwar"],
- ["Faisal", "Zafar"],
- ["Farida", "Jan"],
- ["Nuzhat", "Rana"],
- ["Shazia", "Maqbool"],
- ["Stephanie", "Efthymiou"],
- ["Henry", "Houlden"]
- ],
- "publisher": "European journal of medical genetics",
- "issn": "1878-0849",
- "date": "2022-09-16",
- "abstract": "Hereditary spastic paraplegias (HSP) are a group of neurodegenerative diseases that present with weakness and stiffness in the lower limb muscles and lead to progressive neurological decline. Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to complex HSP. This study aimed to identify causative genetic variants in consanguineous families with HSP from Azerbaijan and Pakistan.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36122674"
-},
-{
- "id": "pmid:36061987",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36061987",
- "title": "Multi-type",
- "type": "article-journal",
- "doi": "10.3389/fneur.2022.986504",
- "authors": [
- ["Jun-Hui", "Yuan"],
- ["Yujiro", "Higuchi"],
- ["Masahiro", "Ando"],
- ["Eiji", "Matsuura"],
- ["Akihiro", "Hashiguchi"],
- ["Akiko", "Yoshimura"],
- ["Tomonori", "Nakamura"],
- ["Yusuke", "Sakiyama"],
- ["Jun", "Mitsui"],
- ["Hiroyuki", "Ishiura"],
- ["Shoji", "Tsuji"],
- ["Hiroshi", "Takashima"]
- ],
- "publisher": "Frontiers in neurology",
- "issn": "1664-2295",
- "date": "2022-08-17",
- "abstract": "Non-coding repeat expansions within",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36061987"
-},
-{
- "id": "pmid:35883251",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35883251",
- "title": "RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.",
- "type": "article-journal",
- "doi": "10.1093/brain/awac280",
- "authors": [
- ["Mehdi", "Benkirane"],
- ["Dylan", "Da Cunha"],
- ["Cecilia", "Marelli"],
- ["Lise", "Larrieu"],
- ["Mathilde", "Renaud"],
- ["Jessica", "Varilh"],
- ["Morgane", "Pointaux"],
- ["David", "Baux"],
- ["Olivier", "Ardouin"],
- ["Charles", "Vangoethem"],
- ["Magali", "Taulan"],
- ["Benjamin", "Daumas Duport"],
- ["Anne", "Bergougnoux"],
- ["Anne-Gaelle", "Corbill\u00e9"],
- ["Mireille", "Coss\u00e9e"],
- ["Raul", "Juntas Morales"],
- ["Sylvie", "Tuffery-Giraud"],
- ["Michel", "Koenig"],
- ["Bertrand", "Isidor"],
- ["Marie-Claire", "Vincent"]
- ],
- "publisher": "Brain : a journal of neurology",
- "issn": "1460-2156",
- "date": "2022-11-21",
- "abstract": "Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an inherited late-onset neurological disease caused by bi-allelic AAGGG pentanucleotide expansions within intron 2 of RFC1. Despite extensive studies, the pathophysiological mechanism of these intronic expansions remains elusive. We screened by clinical exome sequencing two unrelated patients presenting with late-onset ataxia. A repeat-primer polymerase chain reaction was used for RFC1 AAGGG intronic expansion identification. RFC1 mRNA expression was assessed by quantitative reverse transcription-polymerase chain reaction. We identified the first two CANVAS affected patients who are compound heterozygous for RFC1 truncating variants (p.Arg388* and c.575delA, respectively) and a pathological AAGGG expansion. RFC1 expression studies in whole blood showed a significant reduction of RFC1 mRNA for both patients compared to three patients with bi-allelic RFC1 expansions. In conclusion, this observation provides clues that suggest bi-allelic RFC1 conditional loss-of-function as the cause of the disease.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35883251"
-},
-{
- "id": "pmid:34716526",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34716526",
- "title": "Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype.",
- "type": "article-journal",
- "doi": "10.1007/s10048-021-00675-0",
- "authors": [
- ["Hongzhu", "Chen"],
- ["Niu", "Li"],
- ["Yufei", "Xu"],
- ["Guoqiang", "Li"],
- ["Cui", "Song"],
- ["Ru-En", "Yao"],
- ["Tingting", "Yu"],
- ["Jian", "Wang"],
- ["Lin", "Yang"]
- ],
- "publisher": "Neurogenetics",
- "issn": "1364-6753",
- "date": "2021-10-30",
- "abstract": "The target of EGR1 protein 1 (TOE1) is a 3-exonuclease belonging to the Asp-Glu-Asp-Asp deadenylase family that plays a vital role in the maturation of a variety of small nuclear RNAs (snRNAs). Bi-allelic variants in TOE1 have been reported to cause a rare and severe neurodegenerative syndrome, pontocerebellar hypoplasia type 7 (PCH7) (OMIM # 614,969), which is characterized by progressive neurodegeneration, developmental delay, and ambiguous genitalia. Here, we describe the case of a 5-year-6-month-old female Chinese patient who presented with cerebral dysplasia, moderate intellectual disability, developmental delay, and dystonia. Trio whole-exome sequencing revealed two previously unreported heterozygous variants of TOE1 in the patient, including a maternal inherited splicing variant c.237-2A\u2009>\u2009G and a de novo missense variant c.551G\u2009>\u2009T, p.Arg184Leu. TA clone sequencing showed trans status of the two variants, indicating the missense variant occurred on the paternal strand in the patient. Clinical features of the patient were mostly concordant with previous reports but brain deformities (enlarged lateral ventricle and deepened cerebellum sulcus without microcephaly and reduced cerebellar volume) were less severe than in typical PCH7 patients. Moreover, the patient had no gonadal malformation, which is common and variable in patients with PCH7. In summary, we report the case of a Chinese patient with atypical PCH7 caused by a novel TOE1 compound variant. Our work suggests that variations in the TOE1 gene can lead to highly variable clinical phenotypes.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34716526"
-},
{
"id": "pmid:34647648",
"manubot_success": true,
@@ -68170,88 +64686,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34371182"
},
-{
- "id": "pmid:34080085",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34080085",
- "title": "Lineage-Specific Chimerism and Outcome After Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency.",
- "type": "article-journal",
- "doi": "10.1007/s10875-021-01069-5",
- "authors": [
- ["Johannes", "Raedler"],
- ["Thomas", "Magg"],
- ["Meino", "Rohlfs"],
- ["Christoph", "Klein"],
- ["Tanja", "Vall\u00e9e"],
- ["Fabian", "Hauck"],
- ["Michael H", "Albert"]
- ],
- "publisher": "Journal of clinical immunology",
- "issn": "1573-2592",
- "date": "2021-06-02",
- "abstract": "Bi-allelic variants in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency, characterized by recurrent sinopulmonary and skin infections, food allergies, eczema, eosinophilia, and elevated IgE. Long-term outcome is poor given susceptibility to infections, malignancy, and vascular complications. Allogeneic hematopoietic stem cell transplantation is currently the only curative treatment option and has shown promising outcome. The impact of mixed chimerism on long-term outcome is unclear. We reasoned that reversal of disease phenotype would depend on cell lineage-specific chimerism. DOCK8 variants were confirmed by Sanger and/or exome sequencing and immunoblot and/or intracellular flow cytometry. Donor chimerism was analyzed by XY-fluorescence in situ hybridization or quantitative short tandem repeat PCR. Outcome was assessed by laboratory tests, lymphocyte subsets, intracellular DOCK8 protein flow cytometry, T-cell proliferation analysis, and multiparameter immunoblot allergy screening. We report on nine patients, four of whom with mixed chimerism, with a median follow-up of 78\u00a0months after transplantation. Overall, we report successful transplantation with improvement of susceptibility to infections and allergies, and resolution of eczema in all patients. Immunological outcome in patients with mixed chimerism suggests a selective advantage for wild-type donor T-cells but lower donor B-cell chimerism possibly results in a tendency to hypogammaglobulinemia. No increased infectious and allergic complications were associated with mixed chimerism. Aware of the relatively small cohort size, we could not demonstrate a consistent detrimental effect of mixed chimerism on clinical outcomes. We nevertheless advocate aiming for complete donor chimerism in treating DOCK8 deficiency, but recommend reduced toxicity conditioning.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34080085"
-},
-{
- "id": "pmid:33820820",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33820820",
- "title": "Oncolytic herpesvirus expressing PD-L1 BiTE for cancer therapy: exploiting tumor immune suppression as an opportunity for targeted immunotherapy.",
- "type": "article-journal",
- "doi": "10.1136/jitc-2020-001292",
- "authors": [
- ["Hena", "Khalique"],
- ["Richard", "Baugh"],
- ["Arthur", "Dyer"],
- ["Eleanor M", "Scott"],
- ["Sally", "Frost"],
- ["Sarah", "Larkin"],
- ["Janet", "Lei-Rossmann"],
- ["Leonard W", "Seymour"]
- ],
- "publisher": "Journal for immunotherapy of cancer",
- "issn": "2051-1426",
- "date": "2021-03-01",
- "abstract": "Programmed death-ligand 1 (PD-L1) is an important immune checkpoint protein that can be regarded as a pan-cancer antigen expressed by multiple different cell types within the tumor. While antagonizing PD-L1 is well known to relieve PD-1/PD-L1-mediated T cell suppression, here we have combined this approach with an immunotherapy strategy to target T cell cytotoxicity directly toward PD-L1-expressing cells. We developed a bi-specific T cell engager (BiTE) crosslinking PD-L1 and CD3\u03b5 and demonstrated targeted cytotoxicity using a clinically relevant patient-derived ascites model. This approach represents an immunological 'volte-face' whereby a tumor immunological defense mechanism can be instantly transformed into an Achilles' heel for targeted immunotherapy.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33820820"
-},
-{
- "id": "pmid:33733458",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33733458",
- "title": "Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.",
- "type": "article-journal",
- "doi": "10.1111/cge.13957",
- "authors": [
- ["Emanuele", "Agolini"],
- ["Elena", "Botta"],
- ["Mariachiara", "Lodi"],
- ["Maria Cristina", "Digilio"],
- ["Martina", "Rinelli"],
- ["Emanuele", "Bellacchio"],
- ["Viola", "Alesi"],
- ["Tiziana", "Nardo"],
- ["Giovanna", "Zambruno"],
- ["Donata", "Orioli"],
- ["Iside", "Alessi"],
- ["Luigi", "Boccuto"],
- ["Sabrina", "Rossi"],
- ["Andrea", "Carai"],
- ["Giovanna Stefania", "Colafati"],
- ["Antonella", "Cacchione"],
- ["Bruno", "Dallapiccola"],
- ["Antonio", "Novelli"],
- ["Angela", "Mastronuzzi"]
- ],
- "publisher": "Clinical genetics",
- "issn": "1399-0004",
- "date": "2021-04-05",
- "abstract": "Bi-allelic inactivation of XPD protein, a nucleotide excision repair (NER) signaling pathway component encoded by ERCC2 gene, has been associated with several defective DNA repair phenotypes, including xeroderma pigmentosum, photosensitive trichothiodystrophy, and cerebro-oculo-facio-skeletal syndrome. We report a pediatric patient harboring two compound heterozygous variants in ERCC2 gene, c.361-1G>A and c.2125A>C (p.Thr709Pro), affected by severe postnatal growth deficiency, microcephaly, facial dysmorphisms and pilocytic astrocytoma of the brainstem. Some of these features point to a DNA repair syndrome, and altogether delineate a phenotype differentiating from disorders known to be associated with ERCC2 mutations. The DNA repair efficiency following UV irradiation in the proband's skin fibroblasts was defective indicating that the new set of ERCC2 alleles impacts on NER efficiency. Sequencing analysis on tumor DNA did not reveal any somatic deleterious point variant in cancer-related genes, while SNP-array analysis disclosed a 2 Mb microduplication involving the 7q34 region, spanning from KIAA1549 to BRAF, and resulting in the KIAA1549:BRAF fusion protein, a marker of pilocytic astrocytoma. In conclusion, this report expands the clinical and mutational spectrum of ERCC2-related disorders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33733458"
-},
{
"id": "pmid:33121221",
"manubot_success": true,
@@ -68295,141 +64729,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32888184"
},
-{
- "id": "pmid:31309279",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/31309279",
- "title": "Homozygosity mapping and direct sequencing identify a novel pathogenic variant in the CISD2 gene in an Iranian Wolfram syndrome family.",
- "type": "article-journal",
- "doi": "10.1007/s00592-019-01381-y",
- "authors": [
- ["Mohammad Reza", "Pourreza"],
- ["Maryam", "Sobhani"],
- ["Azadeh", "Rahimi"],
- ["Mehdi", "Aramideh"],
- ["Abdol-Mohammad", "Kajbafzadeh"],
- ["Mohammad Reza", "Noori-Daloii"],
- ["Mohammad Amin", "Tabatabaiefar"]
- ],
- "publisher": "Acta diabetologica",
- "issn": "1432-5233",
- "date": "2019-07-15",
- "abstract": "Wolfram syndrome (WS) is a rare recessive neurodegenerative disorder characterized by diabetes mellitus and optic atrophy. Mortality and morbidity rate of the disease is high in adulthood due to neurological and respiratory defects. So far, two WS genes, WFS1 (more than 90% of cases) and CISD2, have been identified. In the present study, we aimed to determine the role of WFS2 in a group of Iranian WS families.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31309279"
-},
-{
- "id": "pmid:30760531",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30760531",
- "title": "Multilocus Variable-Number Tandem-Repeat Analysis of Clostridioides difficile Clusters in Ribotype 027 Isolates and Lack of Association with Clinical Outcomes.",
- "type": "article-journal",
- "doi": "10.1128/jcm.01724-18",
- "authors": [
- ["Julian R", "Garneau"],
- ["Claire Nour", "Abou Chakra"],
- ["Louis-Charles", "Fortier"],
- ["Annie-Claude", "Labb\u00e9"],
- ["Andrew E", "Simor"],
- ["Wayne", "Gold"],
- ["Matthew", "Muller"],
- ["Allison", "McGeer"],
- ["Jeff", "Powis"],
- ["Kevin", "Katz"],
- ["Jacques", "P\u00e9pin"],
- ["Louis", "Valiquette"]
- ],
- "publisher": "Journal of clinical microbiology",
- "issn": "1098-660X",
- "date": "2019-04-26",
- "abstract": "The epidemiology of",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30760531"
-},
-{
- "id": "pmid:30504970",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30504970",
- "title": "Genomic Reduction at TTC Repeats in the Bacterial Genome of Treated Cases of Hansen's Disease: A Possible Survival Mechanism of",
- "type": "article-journal",
- "doi": "10.4103/ijd.ijd_90_18",
- "authors": [
- ["Abu Hena Hasanoor", "Reja"],
- ["Abhishek", "De"],
- ["Pradip Kumar", "Patra"],
- ["Supratik", "Biswas"],
- ["Umesh", "Duttagupta"],
- ["Amrita", "Sil"],
- ["Nibir", "Biswas"],
- ["Surajita", "Bannerjee"],
- ["Aarti", "Sarda"],
- ["Basudev", "Bhattacharya"]
- ],
- "publisher": "Indian journal of dermatology",
- "issn": "1998-3611",
- "date": "2018-01-01",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30504970"
-},
-{
- "id": "pmid:30416071",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30416071",
- "title": "In\u00a0Vitro Expansion of Primary Human Hepatocytes with Efficient Liver Repopulation Capacity.",
- "type": "article-journal",
- "doi": "10.1016/j.stem.2018.10.018",
- "authors": [
- ["Kun", "Zhang"],
- ["Ludi", "Zhang"],
- ["Wenming", "Liu"],
- ["Xiaolong", "Ma"],
- ["Jin", "Cen"],
- ["Zhen", "Sun"],
- ["Chenhua", "Wang"],
- ["Sisi", "Feng"],
- ["Zhengtao", "Zhang"],
- ["Liyun", "Yue"],
- ["Lulu", "Sun"],
- ["Zhenfeng", "Zhu"],
- ["Xiaotao", "Chen"],
- ["Anqi", "Feng"],
- ["Jiaying", "Wu"],
- ["Zhiwu", "Jiang"],
- ["Peng", "Li"],
- ["Xin", "Cheng"],
- ["Dong", "Gao"],
- ["Luying", "Peng"],
- ["Lijian", "Hui"]
- ],
- "publisher": "Cell stem cell",
- "issn": "1875-9777",
- "date": "2018-11-08",
- "abstract": "Transplantation of human hepatocytes (HHs) holds significant potential for treating liver diseases. However, the supply of transplantable HHs is severely constrained by limited donor availability and compromised capacity for in\u00a0vitro expansion. In response to chronic injury, some HHs are reprogrammed into proliferative cells that express both hepatocyte and progenitor markers, suggesting exploitable strategies for expanding HHs in\u00a0vitro. Here, we report defined medium conditions that allow 10,000-fold expansion of HHs. These proliferating HHs are bi-phenotypic, partially retaining hepatic features while gaining expression of progenitor-associated genes. Importantly, these cells engraft into injured mouse liver at a level comparable to primary HHs, and they undergo maturation following transplantation in\u00a0vivo or differentiation in\u00a0vitro. Thus, this study provides a protocol that enables large-scale expansion of transplantable HHs, which could be further developed for modeling and treating human liver disease.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30416071"
-},
-{
- "id": "pmid:30353011",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30353011",
- "title": "A reference haplotype panel for genome-wide imputation of short tandem repeats.",
- "type": "article-journal",
- "doi": "10.1038/s41467-018-06694-0",
- "authors": [
- ["Shubham", "Saini"],
- ["Ileena", "Mitra"],
- ["Nima", "Mousavi"],
- ["Stephanie Feupe", "Fotsing"],
- ["Melissa", "Gymrek"]
- ],
- "publisher": "Nature communications",
- "issn": "2041-1723",
- "date": "2018-10-23",
- "abstract": "Short\u00a0tandem repeats (STRs) are involved in dozens of Mendelian disorders and have been implicated in complex traits. However, genotyping arrays used in genome-wide association studies focus on single nucleotide polymorphisms (SNPs) and do not readily allow identification of STR associations. We leverage next-generation sequencing (NGS) from 479 families to create a SNP\u2009+\u2009STR reference haplotype panel. Our panel enables imputing STR genotypes into SNP array data when NGS is not available for directly genotyping STRs. Imputed genotypes achieve mean concordance of 97% with observed genotypes in an external dataset compared to 71% expected under a naive model. Performance varies widely across STRs, with near perfect concordance at bi-allelic STRs vs. 70% at highly polymorphic repeats. Imputation increases power over individual SNPs to detect STR associations with gene expression. Imputing STRs into existing SNP datasets will enable the first large-scale STR association studies across a range of complex traits.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30353011"
-},
{
"id": "pmid:30078120",
"manubot_success": true,
@@ -68463,61 +64762,28 @@
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30078120"
},
{
- "id": "pmid:29511159",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29511159",
- "title": "Marmota himalayana in the Qinghai-Tibetan plateau as a special host for bi-segmented and unsegmented picobirnaviruses.",
- "type": "article-journal",
- "doi": "10.1038/s41426-018-0020-6",
- "authors": [
- ["Xue-Lian", "Luo"],
- ["Shan", "Lu"],
- ["Dong", "Jin"],
- ["Jing", "Yang"],
- ["Shu-Sheng", "Wu"],
- ["Jianguo", "Xu"]
- ],
- "publisher": "Emerging microbes & infections",
- "issn": "2222-1751",
- "date": "2018-03-07",
- "abstract": "Wildlife has been considered the main source of novel viruses causing emerging infectious diseases. Marmota himalayana is endemic to the Qinghai-Tibetan Plateau, China. Here, based on a high-throughput method using Illumina RNA sequencing, we studied the RNA virome of M. himalayana and discovered multiple novel viruses, especially picobirnaviruses (PBVs), which have a bi-segmented genome and belong to the family Picobirnaviridae. A total of 63% of the viral contigs corresponded to PBVs, comprising 274 segment 1 and 56 segment 2 sequences. Unexpectedly, four unsegmented PBV genomes were also detected and confirmed by PCR and resequencing. According to the phylogenetic analysis, the following nine PBV assortment types are proposed: C1:GI, C2:GIV, C4:GI, C4:GV, C5:GI, C7:GI, C8:GIV, C8:GV and C8:GII. We hypothesize a model of segmentation for the PBV genome, mediated by a 6-bp direct repeat sequence, GAAAGG. The model is supported by detection of the segmentation-associated sequence GAAAGG not only in the 5' untranslated regions of segment 1 (221 in 289) and segment 2 (57 in 80) of bi-segmented PBVs but also in the 5' untranslated regions and junction sequences between the capsid and RdRp genes of unsegmented PBVs. Therefore, with RNA sequencing, we found an unexpected biodiversity of PBVs in M. himalayana, indicating that M. himalayana is a special host for PBVs. We also proposed a putative model of how bi-segmented PBVs could be converted into unsegmented PBVs, which sheds new light on the processes of RNA virus genome evolution.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29511159"
-},
-{
- "id": "pmid:29478838",
+ "id": "pmid:29367260",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29478838",
- "title": "Molecular characterization, toxin detection and resistance testing of human clinical Clostridium difficile isolates from Lebanon.",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/29367260",
+ "title": "Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset.",
"type": "article-journal",
- "doi": "10.1016/j.ijmm.2018.01.004",
+ "doi": "10.1136/jnnp-2017-317253",
"authors": [
- ["Fabian K", "Berger"],
- ["Sari S", "Rasheed"],
- ["George F", "Araj"],
- ["Rami", "Mahfouz"],
- ["Hussein H", "Rimmani"],
- ["Walid R", "Karaoui"],
- ["Ala I", "Sharara"],
- ["Ghassan", "Dbaibo"],
- ["S\u00f6ren L", "Becker"],
- ["Lutz", "von M\u00fcller"],
- ["Markus", "Bischoff"],
- ["Ghassan M", "Matar"],
- ["Barbara", "G\u00e4rtner"]
+ ["Sarah", "Wiethoff"],
+ ["Emer", "O'Connor"],
+ ["Nourelhoda A", "Haridy"],
+ ["Suran", "Nethisinghe"],
+ ["Nicholas", "Wood"],
+ ["Paola", "Giunti"],
+ ["Concei\u00e7\u00e3o", "Bettencourt"],
+ ["Henry", "Houlden"]
],
- "publisher": "International journal of medical microbiology : IJMM",
- "issn": "1618-0607",
- "date": "2018-02-22",
- "abstract": "Clostridium (Clostridioides) difficile is the main cause for nosocomial diarrhoea in industrialised nations. Epidemiologic data on the pathogen's occurrence in other world regions are still scarce. In this context we characterized with phenotypic and molecular genetic methods C. difficile isolates stemming from hospitalised patients with diarrhoea in Lebanon. From 129 stool samples of symptomatic patients at a tertiary care University hospital in Lebanon, a total of 107 C. difficile strains were cultivated and underwent ribotyping, toxin gene detection and antibiotic resistance testing. Ribotype 014 (RT014, 16.8%) predominated, followed by RT002 (9.3%), RT106 (8.4%) and RT070 (6.5%). Binary toxin gene-positive isolates (RT023, RT078 and RT126) were rarely detected and RT027 was absent. Interestingly, within one isolate only the toxin A gene (tcdA) was detected. Multiple-locus variable-number tandem repeat analysis (MLVA) revealed strong strain diversity in most RTs. The isolates were sensitive to metronidazole and vancomycin, and only a small proportion of strains displayed resistance against moxifloxacin, rifampicin, and clarithromycin (5.6%, 1.9%, and 2.8%), respectively. The data indicate that the genetic strain composition of Lebanese strains differs markedly from the situation seen in Europe and North America. Especially the epidemic RTs seen in the latter regions were almost absent in Lebanon. Interestingly, most strains showed almost no resistance to commonly used antibiotics that are suspected to play a major role in the development of C. difficile infection, despite frequent use of these antibiotics in Lebanon. Thus, the role of antimicrobial resistance as a major driving force for infection development remains uncertain in this area.",
+ "publisher": "Journal of neurology, neurosurgery, and psychiatry",
+ "issn": "1468-330X",
+ "date": "2018-01-24",
+ "abstract": "",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29478838"
-},
-{
- "id": "pmid:29367260",
- "manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/29367260",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:29367260']' timed out after 3 seconds"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29367260"
},
{
"id": "pmid:28946818",
@@ -68542,50 +64808,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28946818"
},
-{
- "id": "pmid:28447045",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/28447045",
- "title": "Association of VNTR polymorphism of tumor necrosis factor receptor 2 (",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["Mohammad", "Naderi"],
- ["Mohammad", "Hashemi"],
- ["Nazanin", "Moradi"]
- ],
- "publisher": "Molecular biology research communications",
- "issn": "2322-181X",
- "date": "2017-03-01",
- "abstract": "This study was designed to find out the impact of the variable number of tandem repeats (VNTR) of the tumor necrosis factor receptor 2 (",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28447045"
-},
-{
- "id": "pmid:28276850",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/28276850",
- "title": "Associations between period 3 gene polymorphisms and sleep- /chronotype-related variables in patients with late-life insomnia.",
- "type": "article-journal",
- "doi": "10.1080/07420528.2017.1287083",
- "authors": [
- ["Hader A", "Mansour"],
- ["Joel", "Wood"],
- ["Kodavali V", "Chowdari"],
- ["Divya", "Tumuluru"],
- ["Mikhil", "Bamne"],
- ["Timothy H", "Monk"],
- ["Martica H", "Hall"],
- ["Daniel J", "Buysse"],
- ["Vishwajit L", "Nimgaonkar"]
- ],
- "publisher": "Chronobiology international",
- "issn": "1525-6073",
- "date": "2017-02-27",
- "abstract": "A variable number tandem repeat polymorphism (VNTR) in the period 3 (PER3) gene has been associated with heritable sleep and circadian variables, including self-rated chronotypes, polysomnographic (PSG) variables, insomnia and circadian sleep-wake disorders. This report describes novel molecular and clinical analyses of PER3 VNTR polymorphisms to better define their functional consequences. As the PER3 VNTR is located in the exonic (protein coding) region of PER3, we initially investigated whether both alleles (variants) are transcribed into messenger RNA in human fibroblasts. The VNTR showed bi-allelic gene expression. We next investigated genetic associations in relation to clinical variables in 274 older adult Caucasian individuals. Independent variables included genotypes for the PER3 VNTR as well as a representative set of single nucleotide polymorphisms (SNPs) that tag common variants at the PER3 locus (linkage disequilibrium (LD) between genetic variants < 0.5). In order to comprehensively evaluate variables analyzed individually in prior analyses, dependent measures included PSG total sleep time and sleep latency, self-rated chronotype, estimated with the Composite Scale (CS), and lifestyle regularity, estimated using the social rhythm metric (SRM). Initially, genetic polymorphisms were individually analyzed in relation to each outcome variable using analysis of variance (ANOVA). Nominally significant associations were further tested using regression analyses that incorporated individual ANOVA-associated DNA variants as potential predictors and each of the selected sleep/circadian variables as outcomes. The covariates included age, gender, body mass index and an index of medical co-morbidity. Significant genetic associations with the VNTR were not detected with the sleep or circadian variables. Nominally significant associations were detected between SNP rs1012477 and CS scores (p = 0.003) and between rs10462021 and SRM (p = 0.047); rs11579477 and average delta power (p = 0.043) (analyses uncorrected for multiple comparisons). In conclusion, alleles of the VNTR are expressed at the transcript level and may have a functional effect in cells expressing the PER3 gene. PER3 polymorphisms had a modest impact on selected sleep/circadian variables in our sample, suggesting that PER3 is associated with sleep and circadian function beyond VNTR polymorphisms. Further replicate analyses in larger, independent samples are recommended.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28276850"
-},
{
"id": "pmid:28131213",
"manubot_success": true,
@@ -68702,101 +64924,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26730403"
},
-{
- "id": "pmid:26457435",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/26457435",
- "title": "The novel double-folded structure of d(GCATGCATGC): a possible model for triplet-repeat sequences.",
- "type": "article-journal",
- "doi": "10.1107/s1399004715013930",
- "authors": [
- ["Arunachalam", "Thirugnanasambandam"],
- ["Selvam", "Karthik"],
- ["Pradeep Kumar", "Mandal"],
- ["Namasivayam", "Gautham"]
- ],
- "publisher": "Acta crystallographica. Section D, Biological crystallography",
- "issn": "1399-0047",
- "date": "2015-09-30",
- "abstract": "The structure of the decadeoxyribonucleotide d(GCATGCATGC) is presented at a resolution of 1.8\u2005\u00c5. The decamer adopts a novel double-folded structure in which the direction of progression of the backbone changes at the two thymine residues. Intra-strand stacking interactions (including an interaction between the endocylic O atom of a ribose moiety and the adjacent purine base), hydrogen bonds and cobalt-ion interactions stabilize the double-folded structure of the single strand. Two such double-folded strands come together in the crystal to form a dimer. Inter-strand Watson-Crick hydrogen bonds form four base pairs. This portion of the decamer structure is similar to that observed in other previously reported oligonucleotide structures and has been dubbed a `bi-loop'. Both the double-folded single-strand structure, as well as the dimeric bi-loop structure, serve as starting points to construct models for triplet-repeat DNA sequences, which have been implicated in many human diseases.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26457435"
-},
-{
- "id": "pmid:26402864",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/26402864",
- "title": "Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.",
- "type": "article-journal",
- "doi": "10.1371/journal.pone.0137973",
- "authors": [
- ["Xiaodong", "Jiao"],
- ["Shahid Y", "Khan"],
- ["Bushra", "Irum"],
- ["Arif O", "Khan"],
- ["Qiwei", "Wang"],
- ["Firoz", "Kabir"],
- ["Asma A", "Khan"],
- ["Tayyab", "Husnain"],
- ["Javed", "Akram"],
- ["Sheikh", "Riazuddin"],
- ["J Fielding", "Hejtmancik"],
- ["S Amer", "Riazuddin"]
- ],
- "publisher": "PloS one",
- "issn": "1932-6203",
- "date": "2015-09-24",
- "abstract": "This study was initiated to identify causal mutations responsible for autosomal recessive congenital cataracts in consanguineous familial cases.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26402864"
-},
-{
- "id": "pmid:26205063",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/26205063",
- "title": "Cranial vault expansion with the split bone flap technique in shunt-related craniosynostosis.",
- "type": "article-journal",
- "doi": "10.1016/j.revsto.2015.06.006",
- "authors": [
- ["P-A", "Beuriat"],
- ["C", "Paulus"],
- ["B", "Grassiot"],
- ["A", "Szathmari"],
- ["C", "Mottolese"]
- ],
- "publisher": "Revue de stomatologie, de chirurgie maxillo-faciale et de chirurgie orale",
- "issn": "2213-6541",
- "date": "2015-07-20",
- "abstract": "Shunt-related craniosynostosis causing craniocerebral disproportion represents a particular complication of the treatment of hydrocephalus. When the modification of the shunt opening pressure does not improve the symptomatology, surgery for correction of craniocerebral disproportion is indicated. We present the results and advantages of the split bi-frontal bone technique that is a modification of the previous used frontal bone advancement technique.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26205063"
-},
-{
- "id": "pmid:25658641",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/25658641",
- "title": "Genetic diversity of Staphylococcus aureus in Buruli ulcer.",
- "type": "article-journal",
- "doi": "10.1371/journal.pntd.0003421",
- "authors": [
- ["Nana Ama", "Amissah"],
- ["Corinna", "Glasner"],
- ["Anthony", "Ablordey"],
- ["Caitlin S", "Tetteh"],
- ["Nana Konama", "Kotey"],
- ["Isaac", "Prah"],
- ["Tjip S", "van der Werf"],
- ["John W", "Rossen"],
- ["Jan Maarten", "van Dijl"],
- ["Ymkje", "Stienstra"]
- ],
- "publisher": "PLoS neglected tropical diseases",
- "issn": "1935-2735",
- "date": "2015-02-06",
- "abstract": "Buruli ulcer (BU) is a necrotizing skin disease caused by Mycobacterium ulcerans. Previous studies have shown that wounds of BU patients are colonized with M. ulcerans and several other microorganisms, including Staphylococcus aureus, which may interfere with wound healing. The present study was therefore aimed at investigating the diversity and topography of S. aureus colonizing BU patients during treatment.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25658641"
-},
{
"id": "pmid:25624155",
"manubot_success": true,
@@ -68876,100 +65003,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23407676"
},
-{
- "id": "pmid:23052318",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/23052318",
- "title": "Association of relapse of Clostridium difficile disease with BI/NAP1/027.",
- "type": "article-journal",
- "doi": "10.1128/jcm.02291-12",
- "authors": [
- ["Jane W", "Marsh"],
- ["Rangolee", "Arora"],
- ["Jessica L", "Schlackman"],
- ["Kathleen A", "Shutt"],
- ["Scott R", "Curry"],
- ["Lee H", "Harrison"]
- ],
- "publisher": "Journal of clinical microbiology",
- "issn": "1098-660X",
- "date": "2012-10-10",
- "abstract": "Recurrent Clostridium difficile infection (CDI) occurs in up to 35% of patients. Recurrences can be due to either relapse with the same strain or reinfection with another strain. In this study, multilocus variable-number tandem-repeat analysis (MLVA) was performed on C. difficile isolates from patients with recurrent CDI to distinguish relapse from reinfection. In addition, univariate and multivariate analyses were performed to identify risk factors associated with relapse. Among patients with a single recurrence, relapse due to the original infecting strain was more prevalent than reinfection and the interval between episodes was shorter than among patients who had reinfections. Among patients with >1 recurrence, equal distributions of relapse and reinfection or a combination of the two episode types were observed. Initial infection with the BI/NAP1/027 epidemic clone was found to be a significant risk factor for relapse. This finding may have important implications for patient therapy. Classification of recurrent CDI episodes by MLVA can be utilized to make informed patient care decisions and to accurately define new CDI cases for infection control and reimbursement purposes.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23052318"
-},
-{
- "id": "pmid:22932775",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/22932775",
- "title": "Contribution of coagulation factor VII R353Q, -323P0/10 and HVR4 polymorphisms to coronary artery disease in Tunisians.",
- "type": "article-journal",
- "doi": "10.1007/s11239-012-0800-0",
- "authors": [
- ["Sonia", "Ben-Hadj-Khalifa"],
- ["Basma", "Lakhal"],
- ["Touhami", "Mahjoub"],
- ["Wassim Y", "Almawi"]
- ],
- "publisher": "Journal of thrombosis and thrombolysis",
- "issn": "1573-742X",
- "date": "2013-02-01",
- "abstract": "We examined the contribution of two factor VII (FVII) bi-allelic (R353Q, -323P0/10) and one tandem repeat (HVR4) polymorphisms to the risk of coronary artery disease (CAD) in Tunisians. Study subjects comprised 308 CAD patients and 312 age-, gender- and ethnically-matched controls. Regression analysis was used in assessing the FVII association to CAD risk. While the distribution of -323P0/10 alleles and genotypes were comparable between cases and controls, marginal association of the R353Q variant was noted, with the Q allele (19.1 vs. 23.8%; P = 0.05) and Q allele-containing genotypes (R/Q + Q/Q; 33.8 vs. 48.0%) being slightly under-represented in cases than in controls. On the other hand, four alleles of FVII microsatellite HVR4 were detected at variable frequencies in Tunisians, and comprised H6 (63.2%), H7 (33.8%), and to lesser extents H5 (1.9%) and H8 (0.8%). Of these, the H7 variant was under-represented in patients [P = 0.038; OR (95%CI) = 0.75 (0.58-0.97)]. Of the major genotypes detected (H6/H6, H6/H7, H7/H7) only H6/H6 was positively associated with CAD [P = 0.047; OR (95%CI) = 1.39 (1.00-1.94)]. In conclusion, our study underscores the role of polymorphisms in the FVII gene in modulating the susceptibility to CAD in (North African) Tunisian Arabs.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22932775"
-},
-{
- "id": "pmid:22448208",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/22448208",
- "title": "The influence of dopamine receptor d4 polymorphism on resting EEG in healthy young females.",
- "type": "article-journal",
- "doi": "10.2174/1874440001206010019",
- "authors": [
- ["Tien-Wen", "Lee"],
- ["Younger W-Y", "Yu"],
- ["Chen-Jee", "Hong"],
- ["Shih-Jen", "Tsai"],
- ["Hung-Chi", "Wu"],
- ["Tai-Jui", "Chen"]
- ],
- "publisher": "The open neuroimaging journal",
- "issn": "1874-4400",
- "date": "2012-03-02",
- "abstract": "The polymorphism of variable number of tandem repeat (VNTR) in dopamine receptor D4 (DRD4) gene exon III has been linked to various neuro-psychiatric conditions with disinhibition/impulsivity as one of the core features. This study examined the modulatory effects of long-allele variant of DRD4 VNTR on the regional neural activity as well as inter-regional neural interactions in a young female population. Blood sample and resting state eyes-closed EEG signals were collected in 233 healthy females, stratified into two groups by polymerase chain reaction: long-allele carriers (>4- repeat) and non-carriers (<=4-repeat/<=4-repeat). The values of mean power of 18 electrodes and mutual information of 38 channel pairs across theta, alpha, and beta frequencies were analyzed. Our connectivity analysis was based on information theory, which combined Morlet wavelet transform and mutual information calculation. Between-group differences of regional power and connectivity strength were quantified by independent t-test, while between-group differences in global trends were examined by non-parametric analyses. We noticed that DRD4 VNTR long-allele was associated with decreased global connectivity strength (from non-parametric analysis), especially over bi-frontal, biparietal and right fronto-parietal and right fronto-temporal connections (from independent t-tests). The between-group differences in regional power were not robust. Our findings fit with the networks of response inhibition, providing evidence bridging DRD4 long-allele and disinhibition/impulsivity in neuropsychiatric disorders. We suggest future DRD4 studies of imaging genetics incorporate connectivity analysis to unveil its impact on cerebral network.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22448208"
-},
-{
- "id": "pmid:22264365",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/22264365",
- "title": "Development, expansion, and use of a stroke clinical trials resource for novel exploratory analyses.",
- "type": "article-journal",
- "doi": "10.1111/j.1747-4949.2011.00735.x",
- "authors": [
- ["Myzoon", "Ali"],
- ["Philip", "Bath"],
- ["Marian", "Brady"],
- ["Stephen", "Davis"],
- ["Hans-Christoph", "Diener"],
- ["Geoffrey", "Donnan"],
- ["Marc", "Fisher"],
- ["Werner", "Hacke"],
- ["Daniel F", "Hanley"],
- ["Marie", "Luby"],
- ["G", "Tsivgoulis"],
- ["Nils", "Wahlgren"],
- ["Steven", "Warach"],
- ["Kennedy R", "Lees"]
- ],
- "publisher": "International journal of stroke : official journal of the International Stroke Society",
- "issn": "1747-4949",
- "date": "2012-02-01",
- "abstract": "Analysis of reliable registry data can direct future research to influence clinical care. Data from the Virtual International Stroke Trials Archive have been used to test hypotheses and inform trial design. We sought to expand Virtual International Stroke Trials Archive into a broader stroke resource with new opportunities for research and international collaboration.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22264365"
-},
{
"id": "pmid:26859398",
"manubot_success": true,
@@ -69041,126 +65074,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21550405"
},
-{
- "id": "pmid:21447491",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/21447491",
- "title": "Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families.",
- "type": "article-journal",
- "doi": "10.1136/bjo.2010.189076",
- "authors": [
- ["Shagufta", "Naz"],
- ["Shahbaz", "Ali"],
- ["S Amer", "Riazuddin"],
- ["Tahir", "Farooq"],
- ["Nadeem H", "Butt"],
- ["Ahmad U", "Zafar"],
- ["Shaheen N", "Khan"],
- ["Tayyab", "Husnain"],
- ["Ian M", "Macdonald"],
- ["Paul A", "Sieving"],
- ["J Fielding", "Hejtmancik"],
- ["Sheikh", "Riazuddin"]
- ],
- "publisher": "The British journal of ophthalmology",
- "issn": "1468-2079",
- "date": "2011-03-28",
- "abstract": "To identify disease-causing mutations in two consanguineous Pakistani families with fundus albipunctatus.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21447491"
-},
-{
- "id": "pmid:21304453",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/21304453",
- "title": "Ex vivo expansion of tumor-reactive T cells by means of bryostatin 1/ionomycin and the common gamma chain cytokines formulation.",
- "type": "article-journal",
- "doi": "10.3791/2381",
- "authors": [
- ["Maciej", "Kmieciak"],
- ["Amir", "Toor"],
- ["Laura", "Graham"],
- ["Harry D", "Bear"],
- ["Masoud H", "Manjili"]
- ],
- "publisher": "Journal of visualized experiments : JoVE",
- "issn": "1940-087X",
- "date": "2011-01-14",
- "abstract": "It was reported that breast cancer patients have pre-existing immune responses against their tumors(1,2). However, such immune responses fail to provide complete protection against the development or recurrence of breast cancer. To overcome this problem by increasing the frequency of tumor-reactive T cells, adoptive immunotherapy has been employed. A variety of protocols have been used for the expansion of tumor-specific T cells. These protocols, however, are restricted to the use of tumor antigens ex vivo for the activation of antigen-specific T cells. Very recently, common gamma chain cytokines such as IL-2, IL-7, IL-15, and IL-21 have been used alone or in combination for the enhancement of anti-tumor immune responses(3). However, it is not clear what formulation would work best for the expansion of tumor-reactive T cells. Here we present a protocol for the selective activation and expansion of tumor-reactive T cells from the FVBN202 transgenic mouse model of HER-2/neu positive breast carcinoma for use in adoptive T cell therapy of breast cancer. The protocol includes activation of T cells with bryostatin-1/ionomycin (B/I) and IL-2 in the absence of tumor antigens for 16 hours. B/I activation mimics intracellular signals that result in T cell activation by increasing protein kinase C activity and intracellular calcium, respectively(4). This protocol specifically activates tumor-specific T cells while killing irrelevant T cells. The B/I-activated T cells are cultured with IL-7 and IL-15 for 24 hours and then pulsed with IL-2. After 24 hours, T cells are washed, split, and cultured with IL-7+IL-15 for additional 4 days. Tumor-specificity and anti-tumor efficacy of the ex vivo expanded T cells is determined.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21304453"
-},
-{
- "id": "pmid:20457230",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/20457230",
- "title": "Longitudinal analysis of the behavioural phenotype in Hdh(CAG)150 Huntington's disease knock-in mice.",
- "type": "article-journal",
- "doi": "10.1016/j.brainresbull.2010.05.004",
- "authors": [
- ["Simon", "Brooks"],
- ["Gemma", "Higgs"],
- ["Lesley", "Jones"],
- ["Stephen B", "Dunnett"]
- ],
- "publisher": "Brain research bulletin",
- "issn": "1873-2747",
- "date": "2010-05-08",
- "abstract": "In people with Huntington's disease, an expanded CAG repeat sequence on the HTT gene confers a toxic gain function resulting in a progressive and fatal neurodegeneration. The Hdh((CAG)Q150) Huntington's disease mouse line is a knock-in model of the disease that carries \u223c150 CAG repeats on the normal mouse Htt locus. To determine that these mice are a useful model of the disease, they were assessed longitudinally for motor and cognitive deficits relevant to the human disease state. Each test was conducted bi-monthly across the lifespan of the animal. The results indicate that the Hdh(Q150/Q150) mice were impaired on each of the measures used, with deficits appearing on a 3-stage water maze test at 4 months of age and on prepulse inhibition at 6 months of age, both of which were prior to the manifestation of motor abnormalities. Grip strength, as measured by the inverted cage lid test, was reduced in the Hdh(Q150/Q150) mice from 10 months of age, when the male mice also exhibited weight loss relative to their wildtype littermates. On the accelerating rotarod, deficits in the carrier mice did not appear until they were 21 months old. Our results demonstrate that the Hdh((CAG)150) is a valid model of HD that displays early and progressive cognitive deficits that precede the onset of motor abnormalities.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20457230"
-},
-{
- "id": "pmid:20100323",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/20100323",
- "title": "Compilation of a panel of informative single nucleotide polymorphisms for bovine identification in the Northern Irish cattle population.",
- "type": "article-journal",
- "doi": "10.1186/1471-2156-11-5",
- "authors": [
- ["Adrian R", "Allen"],
- ["Malcolm", "Taylor"],
- ["Brian", "McKeown"],
- ["April I", "Curry"],
- ["John F", "Lavery"],
- ["Andy", "Mitchell"],
- ["David", "Hartshorne"],
- ["R\u00fcdi", "Fries"],
- ["Robin A", "Skuce"]
- ],
- "publisher": "BMC genetics",
- "issn": "1471-2156",
- "date": "2010-01-25",
- "abstract": "Animal identification is pivotal in governmental agricultural policy, enabling the management of subsidy payments, movement of livestock, test scheduling and control of disease. Advances in bovine genomics have made it possible to utilise inherent genetic variability to uniquely identify individual animals by DNA profiling, much as has been achieved with humans over the past 20 years. A DNA profiling test based on bi-allelic single nucleotide polymorphism (SNP) markers would offer considerable advantages over current short tandem repeat (STR) based industry standard tests, in that it would be easier to analyse and interpret. In this study, a panel of 51 genome-wide SNPs were genotyped across panels of semen DNA from 6 common breeds for the purposes of ascertaining allelic frequency. For SNPs on the same chromosome, the extent of linkage disequilbrium was determined from genotype data by Expectation Maximization (EM) algorithm. Minimum probabilities of unique identification were determined for each breed panel. The usefulness of this SNP panel was ascertained by comparison to the current bovine STR Stockmarks II assay. A statistically representative random sampling of bovine animals from across Northern Ireland was assembled for the purposes of determining the population allele frequency for these STR loci and subsequently, the minimal probability of unique identification they conferred in sampled bovine animals from Northern Ireland.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20100323"
-},
-{
- "id": "pmid:19665875",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/19665875",
- "title": "Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.",
- "type": "article-journal",
- "doi": "10.1016/j.jdermsci.2009.06.015",
- "authors": [
- ["Peter C", "van den Akker"],
- ["Anthonie J", "van Essen"],
- ["Marian M J", "Kraak"],
- ["Rowdy", "Meijer"],
- ["Miranda", "Nijenhuis"],
- ["Gonnie", "Meijer"],
- ["Robert M W", "Hofstra"],
- ["Hendri H", "Pas"],
- ["Hans", "Scheffer"],
- ["Marcel F", "Jonkman"]
- ],
- "publisher": "Journal of dermatological science",
- "issn": "1873-569X",
- "date": "2009-08-08",
- "abstract": "The current classification of recessive dystrophic epidermolysis bullosa (RDEB) comprises two major subtypes: 'severe generalized RDEB' (RDEB-sev gen) with early-onset, extensive, generalized blistering and scarring, complete absence of type VII collagen, and bi-allelic COL7A1 null mutations; milder 'generalized other RDEB' (RDEB-O) with reduced-to-normal type VII collagen expression, and non-null genotypes.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19665875"
-},
{
"id": "pmid:19224313",
"manubot_success": true,
@@ -69182,52 +65095,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19224313"
},
-{
- "id": "pmid:19172534",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/19172534",
- "title": "Shorter CAG repeats in the androgen receptor gene may enhance hyperandrogenicity in polycystic ovary syndrome.",
- "type": "article-journal",
- "doi": "10.1080/09513590802342841",
- "authors": [
- ["Filip", "Van Nieuwerburgh"],
- ["Dominic", "Stoop"],
- ["Patrick", "Cabri"],
- ["Marc", "Dhont"],
- ["Dieter", "Deforce"],
- ["Petra", "De Sutter"]
- ],
- "publisher": "Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology",
- "issn": "1473-0766",
- "date": "2008-12-01",
- "abstract": "The main goal of the present study was to assess the influence of the androgen receptor gene CAG repeat polymorphism on hyperandrogenism and its phenotypical features in patients with polycystic ovary syndrome (PCOS).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19172534"
-},
-{
- "id": "pmid:19140738",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/19140738",
- "title": "High frequency of rifampin resistance identified in an epidemic Clostridium difficile clone from a large teaching hospital.",
- "type": "article-journal",
- "doi": "10.1086/596315",
- "authors": [
- ["Scott R", "Curry"],
- ["Jane W", "Marsh"],
- ["Kathleen A", "Shutt"],
- ["Carlene A", "Muto"],
- ["Mary M", "O'Leary"],
- ["Melissa I", "Saul"],
- ["A William", "Pasculle"],
- ["Lee H", "Harrison"]
- ],
- "publisher": "Clinical infectious diseases : an official publication of the Infectious Diseases Society of America",
- "issn": "1537-6591",
- "date": "2009-02-15",
- "abstract": "Rifampin is used as adjunctive therapy for Clostridium difficile-associated disease, and the drug's derivative, rifaximin, has emerged as an attractive antimicrobial for treatment of C. difficile-associated disease. Rifampin resistance in C. difficile strains has been reported to be uncommon.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19140738"
-},
{
"id": "pmid:18949263",
"manubot_success": true,
@@ -69304,27 +65171,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:18285829"
},
-{
- "id": "pmid:18094006",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/18094006",
- "title": "Standardised PCR-based molecular epidemiology of tuberculosis.",
- "type": "article-journal",
- "doi": "10.1183/09031936.00053307",
- "authors": [
- ["C", "Allix-B\u00e9guec"],
- ["P", "Supply"],
- ["M", "Wanlin"],
- ["P", "Bifani"],
- ["M", "Fauville-Dufaux"]
- ],
- "publisher": "The European respiratory journal",
- "issn": "1399-3003",
- "date": "2007-12-19",
- "abstract": "A population-based molecular epidemiology investigation has been undertaken to evaluate tuberculosis transmission and control in the Brussels-Capital Region (Belgium). All tuberculosis cases reported from January 2003 to December 2004 were investigated. In total, 536 Mycobacterium tuberculosis isolates (89% of culture-positive samples) were genotyped by the newly standardised 24 loci-based mycobacterial interspersed repetitive unit-variable number tandem-repeat typing, spoligotyping and IS6110 fingerprinting. Of all the patients, 30% were grouped based on strain clusters, suggesting a transmission index of 20%. An unsuspected outbreak entailing > or = 23 patients was evidenced by molecular typing analysis and confirmed by contact tracing. Foreign-born status accounted for 79% of the studied patients, including 37.9% illegal immigrants and asylum seekers. Among foreign-born patients, asylum seekers and illegal immigrants were significantly less abundant in strain clusters than settled residents. Tuberculosis in the Brussels-Capital Region is a bi-faceted problem, comprising both persisting recent transmission and \"imported diseases\". Molecular epidemiology based on real-time genotyping techniques has proven invaluable in better understanding tuberculosis transmission. However, it will most efficiently contribute to tuberculosis control when implemented in an integrated public health system.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:18094006"
-},
{
"id": "pmid:18074367",
"manubot_success": true,
@@ -69348,24 +65194,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:18074367"
},
-{
- "id": "pmid:17722024",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/17722024",
- "title": "A coalescent simulation of marker selection strategy for candidate gene association studies.",
- "type": "article-journal",
- "doi": "10.1002/ajmg.b.30564",
- "authors": [
- ["Suzanne M", "Cole"],
- ["Jeffrey C", "Long"]
- ],
- "publisher": "American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics",
- "issn": "1552-485X",
- "date": "2008-01-05",
- "abstract": "Recent efforts have focused on the challenges of finding alleles that contribute to health-related phenotypes in genome-wide association studies. However, in candidate gene studies, where the genomic region of interest is small and recombination is limited, factors that affect the ability to detect disease-susceptibility alleles remain poorly understood. In particular, it is unclear how varying the number of markers on a haplotype, the type of marker (e.g., single nucleotide polymorphism (SNP), short tandem repeat (STR)), including the causative site (cs) as a genetic marker, or population demographics influences the power to detect a candidate gene. We evaluated the power of association tests using coalescent-modeled computer simulations. Results show that an effective number of markers on a haplotype is dependent on whether the cs is included as a marker. When the analyses include the cs, highest power is achieved with a single-marker association test. However, when the cs is excluded from analyses, the addition of more nonfunctional SNPs on the haplotype increases power to a certain point under most scenarios. We find a rapidly expanding population always has lower power compared to a population of constant size; although utilizing markers with a frequency of at least 5% improves the chance of detecting an association. Comparing the mutational properties of a nonfunctional SNP versus an STR, multi-allelic STRs provide more or comparable power than a bi-allelic SNP unless SNP frequencies are constrained to 10% or more. Similarly, including an STR with SNPs on a haplotype improves power unless SNP frequencies are 5% or more.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17722024"
-},
{
"id": "pmid:17682009",
"manubot_success": true,
@@ -69392,49 +65220,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17682009"
},
-{
- "id": "pmid:17069782",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/17069782",
- "title": "Genetic association of interleukin-1beta (-511C/T) and interleukin-1 receptor antagonist (86 bp repeat) polymorphisms with Type 2 diabetes mellitus in North Indians.",
- "type": "article-journal",
- "doi": "10.1016/j.cca.2006.09.012",
- "authors": [
- ["B R", "Achyut"],
- ["Akanksha", "Srivastava"],
- ["Sandeep", "Bhattacharya"],
- ["Balraj", "Mittal"]
- ],
- "publisher": "Clinica chimica acta; international journal of clinical chemistry",
- "issn": "0009-8981",
- "date": "2006-10-27",
- "abstract": "Type 2 diabetes mellitus (T2DM) is associated with a subclinical systemic inflammation and development of complications like nephropathy, retinopathy, neuropathy and hypertension. We studied the genetic association of bi-allelic polymorphism (-511C/T) of interleukin (IL)-1beta and 86 bp variable number tandem repeat (VNTR) polymorphism of natural receptor antagonist (IL-1RN) with T2DM and associated complications in North Indians.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17069782"
-},
-{
- "id": "pmid:16907768",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/16907768",
- "title": "IL-1RN gene polymorphism is associated with peri-implantitis.",
- "type": "article-journal",
- "doi": "10.1111/j.1600-0501.2006.01249.x",
- "authors": [
- ["Marja L", "Laine"],
- ["Asa", "Leonhardt"],
- ["Ann-Marie", "Roos-Jans\u00e5ker"],
- ["A Salvador", "Pe\u00f1a"],
- ["Arie Jan", "van Winkelhoff"],
- ["Edwin G", "Winkel"],
- ["Stefan", "Renvert"]
- ],
- "publisher": "Clinical oral implants research",
- "issn": "0905-7161",
- "date": "2006-08-01",
- "abstract": "Interleukin (IL)-1alpha, IL-1beta and their natural specific inhibitor IL-1 receptor antagonist (IL-1ra) play a key role in the regulation of the inflammatory response in periodontal tissues. Polymorphisms in the IL-1 gene cluster have been associated with severe adult periodontitis. We aimed to investigate the IL-1 gene cluster polymorphisms in patients with peri-implantitis.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16907768"
-},
{
"id": "pmid:16396623",
"manubot_success": true,
@@ -69502,77 +65287,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:15875905"
},
-{
- "id": "pmid:15180699",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/15180699",
- "title": "Molecular analysis of GAA repeats and four linked bi-allelic markers in and around the frataxin gene in patients and normal populations from India.",
- "type": "article-journal",
- "doi": "10.1046/j.1529-8817.2003.00087.x",
- "authors": [
- ["B", "Chattopadhyay"],
- ["S", "Gupta"],
- ["P K", "Gangopadhyay"],
- ["S K", "Das"],
- ["T", "Roy"],
- ["S C", "Mukherjee"],
- ["K K", "Sinha"],
- ["B S", "Singhal"],
- ["N P", "Bhattacharyya"]
- ],
- "publisher": "Annals of human genetics",
- "issn": "0003-4800",
- "date": "2004-05-01",
- "abstract": "Friedreich ataxia (FRDA), the most common type of ataxia worldwide, is an autosomal recessive disease. Homozygous expansion of GAA repeats in the first intron of the frataxin gene constitute the major type of mutation that causes the disease. The prevalence of FRDA in diverse ethnic populations of India has not been widely studied. We have studied the distribution of polymorphic GAA repeats in the frataxin gene among 6 clinically diagnosed patients and 160 ethnically matched normal individuals, to gather information on the prevalence of FRDA in the eastern part of India. Homozygous expansion in the range of 250-730 GAA repeats was detected among the patients. Among normal individuals, we observed a unimodal distribution of GAA repeats, consisting of 10 different alleles ranging from 7 to 16 GAA repeats, where the 9 repeat allele had maximal frequency. Only 5.9% of all chromosomes were found to harbour >12 GAA repeats. Haplotype analysis using closely linked four bi-allelic markers in and around the frataxin gene indicated that 66.7% of the expanded alleles harbour the ATCC haplotype that has been reported worldwide. This haplotype was present in 53.3% of the chromosomes with >12 GAA repeats, and accounted for only 3.8% of chromosomes with 7 to 12 GAA repeats. We found one novel haplotype, ACCT, among the expanded alleles as well as among normal individuals, though at low frequency; this haplotype may be characteristic of Indian populations.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:15180699"
-},
-{
- "id": "pmid:15145004",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/15145004",
- "title": "Concomitant anti-arrhythmic surgery, using irrigated cooled-tip radiofrequency ablation, to treat permanent atrial fibrillation in CABG patients: expansion of the indication?",
- "type": "article-journal",
- "doi": "10.1016/j.ejcts.2004.02.010",
- "authors": [
- ["Krishna", "Khargi"],
- ["Bernd", "Lemke"],
- ["Helmut", "Haardt"],
- ["Klaus-Michael", "M\u00fcller"],
- ["Andreas", "M\u00fcgge"],
- ["Axel", "Laczkovics"],
- ["Thomas", "Deneke"]
- ],
- "publisher": "European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery",
- "issn": "1010-7940",
- "date": "2004-06-01",
- "abstract": "The effectiveness of a concomitant anti-arrhythmic surgical procedure in coronary artery bypass grafting (CABG) patients with permanent atrial fibrillation (AF) was evaluated.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:15145004"
-},
-{
- "id": "pmid:14978261",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/14978261",
- "title": "Length-dependent structure formation in Friedreich ataxia (GAA)n*(TTC)n repeats at neutral pH.",
- "type": "article-journal",
- "doi": "10.1093/nar/gkh274",
- "authors": [
- ["V N", "Potaman"],
- ["E A", "Oussatcheva"],
- ["Y L", "Lyubchenko"],
- ["L S", "Shlyakhtenko"],
- ["S I", "Bidichandani"],
- ["T", "Ashizawa"],
- ["R R", "Sinden"]
- ],
- "publisher": "Nucleic acids research",
- "issn": "1362-4962",
- "date": "2004-02-20",
- "abstract": "More than 15 human genetic diseases have been associated with the expansion of trinucleotide DNA repeats, which may involve the formation of non-duplex DNA structures. The slipped-strand nucleation of duplex DNA within GC-rich trinucleotide repeats may result in the changes of repeat length; however, such a mechanism seems less likely for the AT-rich (GAA)n*(TTC)n repeats. Using two-dimensional agarose gels, chemical probing and atomic force microscopy, we characterized the formation of non-B-DNA structures in the Friedreich ataxia-associated (GAA)n*(TTC)n repeats from the FRDA gene that were cloned with flanking genomic sequences into plasmids. For the normal genomic repeat length (n = 9) our data are consistent with the formation of a very stable protonated intramolecular triplex (H-DNA). Its stability at pH 7.4 is likely due to the high proportion of the T.A.T triads which form within the repeats as well as in the immediately adjacent AT-rich sequences with a homopurine. homopyrimidine bias. At the long normal repeat length (n = 23), a family of H-DNAs of slightly different sizes has been detected. At the premutation repeat length (n = 42) and higher negative supercoiling, the formation of a single H-DNA structure becomes less favorable and the data are consistent with the formation of a bi-triplex structure.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:14978261"
-},
{
"id": "pmid:14534930",
"manubot_success": true,
@@ -69594,35 +65308,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:14534930"
},
-{
- "id": "pmid:12891537",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/12891537",
- "title": "A proinflammatory genetic profile increases the risk for chronic atrophic gastritis and gastric carcinoma.",
- "type": "article-journal",
- "doi": "10.1016/s0016-5085(03)00899-0",
- "authors": [
- ["Jos\u00e9 Carlos", "Machado"],
- ["C\u00e9u", "Figueiredo"],
- ["Paulo", "Canedo"],
- ["Paul", "Pharoah"],
- ["Ralph", "Carvalho"],
- ["S\u00e9rgio", "Nabais"],
- ["Catarina", "Castro Alves"],
- ["Maria Luisa", "Campos"],
- ["Leen-Jan", "Van Doorn"],
- ["Carlos", "Caldas"],
- ["Raquel", "Seruca"],
- ["F\u00e1tima", "Carneiro"],
- ["Manuel", "Sobrinho-Sim\u00f5es"]
- ],
- "publisher": "Gastroenterology",
- "issn": "0016-5085",
- "date": "2003-08-01",
- "abstract": "Pro-inflammatory polymorphisms within the genes interleukin (IL)-1B and IL-1RN are associated with risk for gastric carcinoma (GC) in Helicobacter pylori-infected individuals. We aimed to determine the association between variation of the tumor necrosis factor (TNF)-alpha gene and the risk for chronic atrophic gastritis (CAG) and GC. We also investigated the extent to which the combined effect of proinflammatory genetic polymorphisms (IL-1B, IL-1RN, and TNF-alpha), and the combined effect of TNF-alpha and bacterial genotypes each influence such a risk.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12891537"
-},
{
"id": "pmid:12676347",
"manubot_success": true,
@@ -69646,26 +65331,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12676347"
},
-{
- "id": "pmid:12554058",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/12554058",
- "title": "Microfluidic chip-based method for genotyping microsatellites, VNTRs and insertion/deletion polymorphisms.",
- "type": "article-journal",
- "doi": "10.1016/s0009-9120(02)00420-4",
- "authors": [
- ["Youvraj R", "Sohni"],
- ["James P", "Burke"],
- ["Peter J", "Dyck"],
- ["Dennis J", "O'Kane"]
- ],
- "publisher": "Clinical biochemistry",
- "issn": "0009-9120",
- "date": "2003-02-01",
- "abstract": "We have developed a method to genotype variable number of tandem repeats (VNTRs) and insertion/deletion polymorphisms using an integrated microfluidic chip-based system. We used this method to analyze a) a highly polymorphic pentanucleotide repeat (CCTTT)(n) locus within the 5'-putative promoter region of the human inducible nitric oxide synthase gene (iNOS5) which is associated with diabetic complications and infectious diseases; b) a bi-allelic 27 bp VNTR region within intron 4 of endothelial nitric oxide gene (eNOS27) which is associated with hypertension in type 2 diabetes patients with coronary heart disease and excess risk of advanced diabetic nephropathy in type 1 diabetes patients and c) an insertion/deletion polymorphism within the gene encoding angiotensin-converting enzyme (ACE/ID) which is associated with cardiovascular pathology and nitric oxide activity, and is in strong linkage disequilibrium with functional variants. Following amplifications, samples were mixed with gel-dye and markers and loaded into commercially available microfluidic chips designed for DNA sizing applications. In the study (N = 230), 95 (41%) of the DNA samples were homozygous and 135 (59%) were heterozygous for the iNOS5 repeats. For eNOS27, 173 (75%) of the genotyped DNA samples were homozygous for the larger 4b allele and the remaining 57 samples (25%) were heterozygous (4b/4a). No DNA samples were homozygous for the shorter 4a allele with four 27 bp repeats. In case of ACE/ID, 47 (20%) of the DNA samples were homozygous for the insertion, 65 (28%) were homozygous for the deletion and the remaining 118 (51%) were heterozygous. The results obtained were verified by analyzing random amplicons using bi-directional sequencing and GeneScan 3.0 analyses with 100% concordance being observed. Using the microfluidic chip-based method, separation and DNA sizing and genotyping are rapidly accomplished. The DNA fragments are resolved clearly and the system allows quantitation. Finally, the microfluidic chip-based method may be used for both large- and small-scale genotyping studies.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12554058"
-},
{
"id": "pmid:11717352",
"manubot_success": true,
@@ -69860,45 +65525,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10985694"
},
-{
- "id": "pmid:10972647",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10972647",
- "title": "The mouthwash: a non-invasive sampling method to study cytokine gene polymorphisms.",
- "type": "article-journal",
- "doi": "10.1902/jop.2000.71.8.1315",
- "authors": [
- ["M L", "Laine"],
- ["M A", "Farr\u00e9"],
- ["J B", "Crusius"],
- ["A J", "van Winkelhoff"],
- ["A S", "Pe\u00f1a"]
- ],
- "publisher": "Journal of periodontology",
- "issn": "0022-3492",
- "date": "2000-08-01",
- "abstract": "We describe a simple, non-invasive mouthwash sampling method for rapid DNA isolation to detect cytokine gene polymorphisms. In the present paper, interleukin- 1beta(IL-1B) and interleukin-1 receptor antagonist (IL-1RN) gene polymorphisms were studied.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10972647"
-},
-{
- "id": "pmid:10970731",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10970731",
- "title": "Identification and characterization of two new, highly polymorphic loci adjacent to GNAS1 on chromosome 20q13.3.",
- "type": "article-journal",
- "doi": "10.1006/mcpr.2000.0308",
- "authors": [
- ["M", "Bastepe"],
- ["H", "J\u00fcppner"]
- ],
- "publisher": "Molecular and cellular probes",
- "issn": "0890-8508",
- "date": "2000-08-01",
- "abstract": "GNAS1, which is located in the chromosomal region 20q13.3, gives rise to maternally, paternally or bi-allelically expressed transcripts including the one that encodes the alpha subunit of the stimulatory G protein. Numerous naturally occurring mutations of this gene have been identified in several different disorders including certain forms of pseudohypoparathyroidism, progressive osseous heteroplasia, McCune-Albright syndrome and acromegaly. Polymorphic markers currently employed in the genetic evaluation of these disorders frequently prove uninformative owing to a low heterozygosity value associated with each marker. We searched for potentially polymorphic tandem repeats close to the GNAS1 locus, and identified two new, highly polymorphic loci that are located within a;48-kb region immediately downstream of this gene. These new microsatellite markers, with their high polymorphism information content, may prove to be useful in genetic studies related to GNAS1 as well as to other genes located in the flanking genomic region.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10970731"
-},
{
"id": "pmid:10964945",
"manubot_success": true,
@@ -69995,27 +65621,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10601803"
},
-{
- "id": "pmid:10550664",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10550664",
- "title": "The bi-directional transcriptional promoters for the latency-relating transcripts of the pp38/pp24 mRNAs and the 1.8 kb-mRNA in the long inverted repeats of Marek's disease virus serotype 1 DNA are regulated by common promoter-specific enhancers.",
- "type": "article-journal",
- "doi": "10.1007/s007050050713",
- "authors": [
- ["H", "Shigekane"],
- ["Y", "Kawaguchi"],
- ["M", "Shirakata"],
- ["M", "Sakaguchi"],
- ["K", "Hirai"]
- ],
- "publisher": "Archives of virology",
- "issn": "0304-8608",
- "date": "1999-01-01",
- "abstract": "In cell lines established from Marek's disease tumors, several viral transcripts are expressed and among them the products of pp38/pp24 mRNA and 1.8 kb-mRNA have been suggested to be involved in viral oncogenicity. The long inverted repeats of Marek's Disease virus serotype 1 (MDV1) genome contain closely located transcriptional promoters for phosphorylated protein pp38/pp24 and 1.8 kb-mRNA. These promoters initiate transcription in opposite directions and are separated only by a short enhancer region, which is likely to regulate both promoters simultaneously. We have analyzed the transcription activity of these promoters in MDV1 (Md5 strain) infected CEF by transient expression of CAT reporter genes and found that the promoters were in fact active in infected cells and the promoter for 1.8 kb-mRNA was more active than the pp38/pp24 promoter. Deletion analysis of the short enhancer region revealed that the 30 bp region overlapping the enhancer elements for 1.8 kb-mRNA was important for promoter activity for pp38/pp24. The gel shift analysis revealed that nuclear factor(s) actually bound to the overlapping 30 bp region. In addition, the activity of these promoters in infected cells varied with MDV strains. These results suggest that pp38/pp24 and 1.8 kb-mRNA promoters share a common regulatory sequence but a viral or a cellular factor(s) induced by viral infection regulates the promoter by distinct mechanisms.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10550664"
-},
{
"id": "pmid:10442462",
"manubot_success": true,
@@ -70305,25 +65910,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9559993"
},
-{
- "id": "pmid:9506537",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/9506537",
- "title": "In vivo activation and expansion of T cells by a bi-specific antibody abolishes metastasis formation of human melanoma cells in SCID mice.",
- "type": "article-journal",
- "doi": "10.1002/(sici)1097-0215(19980316)75:6<908::aid-ijc14>3.0.co;2-z",
- "authors": [
- ["S", "Riedle"],
- ["M", "R\u00f6sel"],
- ["M", "Z\u00f6ller"]
- ],
- "publisher": "International journal of cancer",
- "issn": "0020-7136",
- "date": "1998-03-16",
- "abstract": "Bi-specific antibody fragments (bAB) are used in tumour therapy as a means to redirect and to strengthen effector cell function. It would be of great therapeutic advantage if, in addition, recruitment, expansion and the state of activity of effector cells are influenced by targeting through a bAB. This question was explored in the melanoma-bearing SCID mouse. The chemically coupled Fab' fragments of an anti-CD3 and an anti-p97 monoclonal antibody (MAB) were characterized in vitro for dual binding specificity and support of lymphokine-activated-killer-cell (LAKC) cytotoxicity towards a highly aggressive human melanoma line, which was significantly increased and exceeded levels of antibody-dependent cellular cytotoxicity observed in the presence of the anti-p97 MAB. The in vivo efficacy was tested in the SCID mouse: 5, 10 and 15 days after i.p. application of tumour cells, mice received LAKC (2 x 10(7)) together with bAB (150-100 microg). The application of bAB was repeated at days 20 and 25. Application of LAKC to melanoma-bearing SCID mice prolonged the mean survival time from 22 days of the untreated control group to 41 days. Anti-p97 did not exert any additive effect. In the presence of bAB, melanoma cells did not grow in 3 out of 8 mice. The mean survival time of the 5 mice developing tumours was 45 days. Importantly, none of the mice receiving bAB developed metastases, which were seen in 100% of animals receiving tumour cells or tumour cells plus LAKC or tumour cells plus LAKC plus anti-p97. As revealed by LAKC recovered from the SCID mice, the efficacy of the bAB was based on prolonged persistence of CD8-positive cells as well as on expansion and activation of CD4-positive cells, which was observed only in bAB-treated tumour-bearing mice. The efficiency in recruiting cytotoxic and, in particular, helper T cells suggests bAB as a valuable additive in immunotherapeutic treatment of melanoma patients.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9506537"
-},
{
"id": "pmid:9371901",
"manubot_success": true,
@@ -70486,28 +66072,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9043864"
},
-{
- "id": "pmid:8305969",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/8305969",
- "title": "Expansion and tumour specific cytokine secretion of bryostatin-activated T-cells from cryopreserved axillary lymph nodes of breast cancer patients.",
- "type": "article-journal",
- "doi": "10.1016/s0960-7404(06)80002-2",
- "authors": [
- ["D S", "Lind"],
- ["T M", "Tuttle"],
- ["K P", "Bethke"],
- ["J L", "Frank"],
- ["C W", "McCrady"],
- ["H D", "Bear"]
- ],
- "publisher": "Surgical oncology",
- "issn": "0960-7404",
- "date": "1993-10-01",
- "abstract": "Current adoptive immunotherapy strategies in cancer patients require large numbers of activated T-cells and are limited by the availability of autologous tumour. We describe a novel method of T-cell activation that produced relatively rapid, high-fold expansion of stored, frozen lymphocytes obtained from the lymph nodes of 20 breast cancer patients during axillary dissection but does not require autologous tumour. In vitro exposure of thawed cells to bryostatin-1 (B), a non-tumour promoting protein kinase C activator and ionomycin (I), a calcium ionophore, at day 0 followed by culture in low dose interleukin-2 (IL-2 20 units ml-1) and restimulation again on day 10 results in 269-28,206 fold (geometric mean = 2254) expansion in cell numbers counted 17 days after initial stimulation. Analysis of cell surface markers revealed that B/I expanded human cells were predominantly T-cells (83-97%) and consisted of a mixture of CD8+ (46-74%) and CD4+ (4-30%) cells. B/I expanded cells did not lyse autologous tumour cells when tested in a 4-h 51Cr release assay, but murine studies reported previously have demonstrated specific and curative in vivo efficacy in MCA-105 tumour-bearing mice despite an inability to lyse autologous tumour in vitro. B/I expanded T-cells from five of six patients secreted the cytokines tumour necrosis factor-alpha (TNF-alpha) and interferon-gamma (IFN-gamma) in response to co-culture with autologous tumour cells but not with irrelevant tumour. These results are analogous to findings in a murine model, in which non-cytolytic B/I expanded T-cells mediated specific, curative anti-tumour effects in vivo, and lay the groundwork for a clinical trial of this novel strategy for the adoptive immunotherapy of breast cancer patients.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8305969"
-},
{
"id": "pmid:37422244",
"manubot_success": true,
@@ -70607,6 +66171,37 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16474167"
},
+{
+ "id": "pmid:39703464",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39703464",
+ "title": "Updated Structure of",
+ "type": "article-journal",
+ "doi": "10.1212/nxg.0000000000200220",
+ "authors": [
+ ["Martin", "Wendlandt"],
+ ["Hannes", "Erdmann"],
+ ["Simone", "Rost"],
+ ["Morghan C", "Lucas"],
+ ["Kerstin", "Becker"],
+ ["Stephanie", "Kleinle"],
+ ["Manuela", "Timmer"],
+ ["Andrea", "Bier"],
+ ["Gilbert", "Wunderlich"],
+ ["Stephan", "Wenninger"],
+ ["Maggie C", "Walter"],
+ ["Teresa", "Neuhann"],
+ ["Benedikt", "Schoser"],
+ ["Elke", "Holinski-Feder"],
+ ["Angela", "Abicht"]
+ ],
+ "publisher": "Neurology. Genetics",
+ "issn": "2376-7839",
+ "date": "2024-12-18",
+ "abstract": "Myotonic dystrophy type 2 (DM2) is a multisystemic repeat disorder caused by the expansion of an unstable CCTG tetranucleotide repeat in the noncoding region of the",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39703464"
+},
{
"id": "pmid:39240646",
"manubot_success": true,
@@ -71233,26 +66828,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23570879"
},
-{
- "id": "pmid:23097607",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/23097607",
- "title": "ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["Simona-Felicia", "Ursu"],
- ["Alexi", "Alekov"],
- ["Ning-Hui", "Mao"],
- ["Karin", "Jurkat-Rott"]
- ],
- "publisher": "Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology",
- "issn": "1128-2460",
- "date": "2012-10-01",
- "abstract": "Myotonic dystrophy type 2 (DM2) is caused by CCTG-repeat expansions. Occurrence of splicing and mutations in the muscle chloride channel gene CLCN1 have been reported to contribute to the phenotype. To examine the effect of CLCN1 in DM2 in Germany, we determined the frequency of a representative ClC1 mutation, R894X, and its effect on DM2 clinical features. Then, we examined CLCN1 mRNA splice variants in patient muscle functionally expressed the most abundant variant, and determined its subcellular localization. Finally, we established a cellular system for studying mouse clcn1 pre-mRNA splicing and tested effects of expression of (CCUG)\u2081\u2088, (CUG)\u2082\u2084 and (AAG)\u2082\u2084 RNAs. The R894X mutation was present in 7.7% of DM2 families. DM2 R894X-carriers had more myotonia and myalgia than non-carriers. The most abundant CLCN1 splice variant in DM2 (80% of all transcripts) excluded exons 6-7 and lead to a truncated ClC1(236X) protein. Heterologous ClC1(236X) expression did not yield functional channels. Co-expression with ClC1 did not show a dominant negative effect, but a slightly suppressive effect. In C\u2082C\u2081\u2082 cells, the clc1 splice variants generated by (CCUG)\u2081\u2088-RNA resembled those in DM2 muscle and differed from those generated by (CUG)\u2082\u2084 and (AAG)\u2082\u2084. We conclude that ClC1 mutations exert gene dose effects and enhance myotonia and pain in DM2 in Germany. Additionally, the ClC1(236X) splice variant may contribute to myotonia in DM2. Since splice variants depend on the types of repeats expressed in the cellular C\u2082C\u2081\u2082 model, similar cell models of other tissues may be useful for studying repeatdependent pathogenetic mechanisms more easily than in transgenic animals.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23097607"
-},
{
"id": "pmid:22723857",
"manubot_success": true,
@@ -71977,180 +67552,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12601109"
},
-{
- "id": "pmid:12035844",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/12035844",
- "title": "A patient with proximal myotonic myopathy and parkinsonism.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["Kon", "Chu"],
- ["Jin-Whan", "Cho"],
- ["Eun-Chol", "Song"],
- ["Beom S", "Jeon"]
- ],
- "publisher": "The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques",
- "issn": "0317-1671",
- "date": "2002-05-01",
- "abstract": "There are two case reports of patients who had proximal myotonic myopathy (PROMM)/myotonic dystrophy (DM) Type 1 and parkinsonism. The combination of myotonic myopathy and parkinsonism is so rare that it may appear to be just a coincidence. However, previous neuropathological examinations of patients who had myotonic dystrophy showed that there were intracytoplasmic inclusion bodies in the nigra and striatum, which raises the possibility that myotonic myopathy may be associated with parkinsonism. In this report we describe a patient with PROMM and a clinically definite parkinsonism to highlight this possibility.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12035844"
-},
-{
- "id": "pmid:11098287",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/11098287",
- "title": "The expanding clinical and genetic spectrum of the myotonic dystrophies.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["K", "Ricker"]
- ],
- "publisher": "Acta neurologica Belgica",
- "issn": "0300-9009",
- "date": "2000-09-01",
- "abstract": "Core features of the dominantly inherited myotonic dystrophies are myotonia, muscle weakness and cataract. Classic myotonic dystrophy (Steinert's disease) has been defined as a genetic entity by the underlying CTG repeat expansion on chromosome 19q13.3 (= DM1 locus). Later on, another disorder similar to but different from myotonic dystrophy was described as proximal myotonic myopathy (PROMM). The majority of PROMM families have been linked to a recently discovered locus on chromosome 3q21 (= DM2 locus).--This article analyses the clinical features of 70 patients from 14 German PROMM families linked to the 3q locus. In contrast to Steinert's disease, these patients did not reveal mental deficiency; no congenital type was found; weakness was mainly located in the proximal leg muscles; clinical myotonia was very mild and sometimes absent; episodes of pain occurred. In the majority of patients, the disorder seems to be more benign compared to Steinert's disease. However, life threatening cardiac involvement is possible; rarely, muscle weakness may progress until the patient is bedridden.--Some families with a PROMM-like phenotype do not link to the locus on 3q. The group of the myotonic dystrophies will get new members in the future.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11098287"
-},
-{
- "id": "pmid:10996776",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10996776",
- "title": "Proof of genetic heterogeneity in the proximal myotonic myopathy syndrome (PROMM) and its relationship to myotonic dystrophy type 2 (DM2).",
- "type": "article-journal",
- "doi": "10.1016/s0960-8966(00)00129-2",
- "authors": [
- ["W", "Kress"],
- ["B", "Mueller-Myhsok"],
- ["K", "Ricker"],
- ["C", "Schneider"],
- ["M C", "Koch"],
- ["K V", "Toyka"],
- ["C R", "Mueller"],
- ["T", "Grimm"]
- ],
- "publisher": "Neuromuscular disorders : NMD",
- "issn": "0960-8966",
- "date": "2000-10-01",
- "abstract": "Recently, myotonic dystrophy type 2 has been described as a separate disease entity that is distinctive from classical Steinert's disease since it lacks a CTG repeat expansion on chromosome 19q. A gene locus for myotonic dystrophy type 2 has been mapped to chromosome 3q. Independently, proximal myotonic myopathy has been recognized as yet another form of a multisystem myotonic disorder. Its relationship to myotonic dystrophy type 2 remains to be clarified. In our linkage study of 17 German proximal myotonic myopathy families nine of them mapped to the myotonic dystrophy type 2 locus (LOD score 18.9). However, two families with a typical proximal myotonic myopathy phenotype were excluded from this locus (LOD score -7.4). These results confirm genetic heterogeneity in the proximal myotonic myopathy syndrome. Furthermore, in the majority of the proximal myotonic myopathy families the disease phenotype may be caused by allelic mutations in the putative myotonic dystrophy type 2 gene.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10996776"
-},
-{
- "id": "pmid:10932272",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10932272",
- "title": "Proximal myotonic myopathy: evidence for anticipation in families with linkage to chromosome 3q.",
- "type": "article-journal",
- "doi": "10.1212/wnl.55.3.383",
- "authors": [
- ["C", "Schneider"],
- ["A", "Ziegler"],
- ["K", "Ricker"],
- ["T", "Grimm"],
- ["W", "Kress"],
- ["C D", "Reimers"],
- ["H", "Meinck"],
- ["K", "Reiners"],
- ["K V", "Toyka"]
- ],
- "publisher": "Neurology",
- "issn": "0028-3878",
- "date": "2000-08-08",
- "abstract": "To investigate anticipation in proximal myotonic myopathy (PROMM).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10932272"
-},
-{
- "id": "pmid:10601809",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10601809",
- "title": "Proximal myotonic myopathy: clinical, electrophysiological and pathological findings in a family.",
- "type": "article-journal",
- "doi": "10.1159/000008129",
- "authors": [
- ["A", "Kohler"],
- ["P", "Burkhard"],
- ["S", "Hefft"],
- ["A", "Bottani"],
- ["G P", "Pizzolato"],
- ["M R", "Magistris"]
- ],
- "publisher": "European neurology",
- "issn": "0014-3022",
- "date": "2000-01-01",
- "abstract": "Proximal myotonic myopathy (PROMM) is an autosomal dominant muscle disorder characterized by proximal weakness, myotonia, muscle pain and cataract. It resembles Steinert myotonic dystrophy (MD), but weakness is proximal, without facial muscle involvement, and the chromosome 19 CTG trinucleotide repeat expansion characteristic of MD is not present. We describe a further family with PROMM. Affected members complained of weakness of lower limbs or of myotonia. EMG revealed diffuse myotonic discharges. Muscle histology showed dystrophic abnormalities. The PROMM phenotype varies, even in the same pedigree, and may mimic MD or limb-girdle muscle dystrophy. EMG is particularly useful, since it may disclose myotonic discharges even in the absence of overt myotonia. Thus far it is not known whether PROMM is a single entity, or if it represents a heterogeneous group of disorders. This question will probably soon be settled through genetic analysis.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10601809"
-},
-{
- "id": "pmid:10063831",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10063831",
- "title": "Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2).",
- "type": "article-journal",
- "doi": "10.1016/s0960-8966(98)00094-7",
- "authors": [
- ["J W", "Day"],
- ["R", "Roelofs"],
- ["B", "Leroy"],
- ["I", "Pech"],
- ["K", "Benzow"],
- ["L P", "Ranum"]
- ],
- "publisher": "Neuromuscular disorders : NMD",
- "issn": "0960-8966",
- "date": "1999-01-01",
- "abstract": "We report the clinical and genetic characteristics of a five-generation family (MN1) with an unusual form of myotonic dystrophy (DM). Affected individuals have clinical features that are similar to DM including myotonia, distal weakness, frontal balding, polychromatic cataracts, infertility and cardiac arrhythmias. Genetic analyses reveal that affected individuals do not have the CTG expansion associated with DM, nor is the disease locus linked to the DM region of chromosome 19. We have also excluded the MN1 disease locus from the chromosomal regions containing the genes for the muscle sodium (alpha- and beta-subunits) and chloride channels, both of which are involved in other myotonic disorders. We have recently mapped the disease locus (DM2) in this family to a 10 cM region of chromosome 3q [Ranum LPW, Rasmussen PF, Benzow KA, Koob MD, Day JW. Nat Genet 1998;19:196-198]. The genetically distinct form of myotonic dystrophy in the MN1 kindred shares some of the clinical features of previously reported families with proximal myotonic myopathy (PROMM). The size of the MN1 family (25 affected individuals) makes it a unique resource for both clinical and genetic studies. This second form of myotonic dystrophy may help resolve the confusion that remains about how the CTG repeat expansion in the 3' untranslated portion of the myotonin protein kinase gene causes the multisystem involvement of DM.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10063831"
-},
-{
- "id": "pmid:8923304",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/8923304",
- "title": "Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)?",
- "type": "article-journal",
- "doi": "10.1007/bf00873977",
- "authors": [
- ["C", "Abbruzzese"],
- ["R", "Krahe"],
- ["M", "Liguori"],
- ["D", "Tessarolo"],
- ["M J", "Siciliano"],
- ["T", "Ashizawa"],
- ["M", "Giacanelli"]
- ],
- "publisher": "Journal of neurology",
- "issn": "0340-5354",
- "date": "1996-10-01",
- "abstract": "Myotonic dystrophy (DM) is associated with an expansion of an unstable (CTG)n repeat in the 3' untranslated region of the DM protein kinase (DMPK) gene on chromosome 19q13.3. We studied six patients from two families who showed no expansions of the repeat, in spite of their clinical diagnosis of DM. These patients had multi-systemic manifestations that were distinguishable from those seen in other myotonic disorders, including proximal myotonic myopathy (PROMM). In one additional family, two symptomatic members showed no expanded (CTG)n repeats, while their affected relatives had the expanded repeats. DM haplotype analysis failed to exclude the DMPK locus as a possible site of mutation in each family; however, DMPK mRNA levels were normal. We conclude that a mutation(s) other than the expanded (CTG)n repeat can cause the DM phenotype. The mutation(s) in these families remain(s) to be mapped and characterized.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8923304"
-},
-{
- "id": "pmid:8784800",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/8784800",
- "title": "A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies.",
- "type": "article-journal",
- "doi": "10.1016/0960-8966(95)00040-2",
- "authors": [
- ["G", "Meola"],
- ["V", "Sansone"],
- ["S", "Radice"],
- ["S", "Skradski"],
- ["L", "Ptacek"]
- ],
- "publisher": "Neuromuscular disorders : NMD",
- "issn": "0960-8966",
- "date": "1996-05-01",
- "abstract": "Myotonic dystrophy (DM) is a well-defined autosomal dominant disorder characterized by myotonia, muscle weakness, cardiac conduction defects, cataracts, and endocrine abnormalities. Recently a newly recognized disorder, similar to but distinct from DM, has been observed with multisystem findings including intermittent myotonia, proximal myopathy, and occasional cardiac conduction disturbances. This disorder has been called proximal myotonic myopathy (PROMM). No history of anticipation is present and there is no linkage to the gene locus for DM or to the loci for the muscle sodium or chloride channels. This report describes a family with a normal size of the CTG trinucleotide repeat expansion of the DM gene in which affected individuals have myotonia (intermittent, exacerbated by cold), bilateral cataracts, mild hypogonadism and mild temporal atrophy. Affected individuals also have proximal muscle weakness, facial involvement, nonspecific abnormalities on muscle biopsy, normal cardiac conduction, and no glucose intolerance. The absence of trinucleotide repeat expansion in the DM gene is consistent with this family being affected by a disorder distinct from DM, possibly a form of PROMM.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8784800"
-},
{
"id": "pmid:32097846",
"manubot_success": true,
@@ -72284,32 +67685,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12483437"
},
-{
- "id": "pmid:39435674",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39435674",
- "title": "Utility of Optical Genome Mapping in Repeat Disorders.",
- "type": "article-journal",
- "doi": "10.1111/cge.14633",
- "authors": [
- ["Mehmet Burak", "Mutlu"],
- ["Taner", "Karakaya"],
- ["Hamide Bet\u00fcl Gerik", "\u00c7elebi"],
- ["Fahrettin", "Duymu\u015f"],
- ["Serhat", "Seyhan"],
- ["Sanem", "Y\u0131lmaz"],
- ["Ulu\u00e7", "Yi\u015f"],
- ["Tahir", "Atik"],
- ["Mehmet Fatih", "Yetkin"],
- ["Hakan", "G\u00fcm\u00fc\u015f"]
- ],
- "publisher": "Clinical genetics",
- "issn": "1399-0004",
- "date": "2024-10-22",
- "abstract": "Genomic repeat sequences are patterns of nucleic acids that exist in multiple copies throughout the genome. More than 60 Mendelian disorders are caused by the expansion or contraction of these repeats. Various specific methods for determining tandem repeat variations have been developed. However, these methods are highly specific to the genomic region being studied and sometimes require specialized tools. In this study, we have investigated the use of Optical Genome Mapping (OGM) as a diagnostic tool for detecting repeat disorders. We evaluated 19 patients with a prediagnosis of repeat disorders and explained the molecular etiology of 9 of them with OGM (5 patients with Facioscapulohumeral Muscular Dystrophy (FSHD), 2 patients with Friedreich's Ataxia (FA), 1 patient with Fragile X Syndrome (FXS), and 1 patient with Progressive Myoclonic Epilepsy 1A (EPM1A)). We confirmed OGM results with more widely used fragment analysis techniques. This study highlights the utility of OGM as a diagnostic tool for repeat expansion and contraction diseases such as FA, FXS, EPM1A, and FSHD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39435674"
-},
{
"id": "pmid:39156922",
"manubot_success": true,
@@ -72550,41 +67925,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25752200"
},
-{
- "id": "pmid:24573552",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/24573552",
- "title": "Ultra low-dose IL-2 for GVHD prophylaxis after allogeneic hematopoietic stem cell transplantation mediates expansion of regulatory T cells without diminishing antiviral and antileukemic activity.",
- "type": "article-journal",
- "doi": "10.1158/1078-0432.ccr-13-3205",
- "authors": [
- ["Alana A", "Kennedy-Nasser"],
- ["Stephanie", "Ku"],
- ["Paul", "Castillo-Caro"],
- ["Yasmin", "Hazrat"],
- ["Meng-Fen", "Wu"],
- ["Hao", "Liu"],
- ["Jos", "Melenhorst"],
- ["A John", "Barrett"],
- ["Sawa", "Ito"],
- ["Aaron", "Foster"],
- ["Barbara", "Savoldo"],
- ["Eric", "Yvon"],
- ["George", "Carrum"],
- ["Carlos A", "Ramos"],
- ["Robert A", "Krance"],
- ["Kathryn", "Leung"],
- ["Helen E", "Heslop"],
- ["Malcolm K", "Brenner"],
- ["Catherine M", "Bollard"]
- ],
- "publisher": "Clinical cancer research : an official journal of the American Association for Cancer Research",
- "issn": "1557-3265",
- "date": "2014-02-26",
- "abstract": "GVHD after allogeneic hematopoietic stem cell transplantation (alloSCT) has been associated with low numbers of circulating CD4(+)CD25(+)FoxP3(+) regulatory T cells (Tregs). Because Tregs express high levels of the interleukin (IL)-2 receptor, they may selectively expand in vivo in response to doses of IL-2 insufficient to stimulate T effector T-cell populations, thereby preventing GVHD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24573552"
-},
{
"id": "pmid:23883076",
"manubot_success": true,
@@ -73351,6 +68691,31 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37090938"
},
+{
+ "id": "pmid:39713478",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39713478",
+ "title": "Modulation of the JAK2-STAT3 pathway promotes expansion and maturation of human iPSCs-derived myogenic progenitor cells.",
+ "type": "article-journal",
+ "doi": "10.1101/2024.12.09.624203",
+ "authors": [
+ ["Luca", "Caputo"],
+ ["Cedomir", "Stamenkovic"],
+ ["Matthew T", "Tierney"],
+ ["Maria Sofia", "Falzarano"],
+ ["Rhonda", "Bassel-Duby"],
+ ["Alessandra", "Ferlini"],
+ ["Eric N", "Olson"],
+ ["Pier Lorenzo", "Puri"],
+ ["Alessandra", "Sacco"]
+ ],
+ "publisher": "bioRxiv : the preprint server for biology",
+ "issn": "2692-8205",
+ "date": "2024-12-10",
+ "abstract": "Generation of",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39713478"
+},
{
"id": "pmid:39251998",
"manubot_success": true,
@@ -74447,6 +69812,55 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7705851"
},
+{
+ "id": "pmid:39710066",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39710066",
+ "title": "Advancing molecular diagnostics of myotonic dystrophy type 1 using short-read whole genome sequencing.",
+ "type": "article-journal",
+ "doi": "10.1016/j.mcp.2024.102005",
+ "authors": [
+ ["Ingrid", "Lojova"],
+ ["Marcel", "Kucharik"],
+ ["Zuzana", "P\u00f6s"],
+ ["Andrej", "Balaz"],
+ ["Andrea", "Zatkova"],
+ ["Eva", "Tothova Tarova"],
+ ["Jaroslav", "Budis"],
+ ["Ludevit", "Kadasi"],
+ ["Tomas", "Szemes"],
+ ["Jan", "Radvanszky"]
+ ],
+ "publisher": "Molecular and cellular probes",
+ "issn": "1096-1194",
+ "date": "2024-12-29",
+ "abstract": "Myotonic dystrophy type 1 (DM1) is a serious multisystem disorder caused by GCA repeat expansions in the DMPK gene. Early and accurate diagnosis, often requiring reliable DNA-diagnostic techniques, is critical for preventing life-threatening cardiac complications. Clinically, two main diagnostic challenges exist. Firstly, because of overlapping symptomatology with other conditions, conventional DNA-testing methods focusing on DM1 expansion detection ensure diagnostic results only in a small subset of patients, and frequently, further DNA-testing in remaining cases is necessary. Secondly, because of variable symptomatology and age of onset, not all DM1 patients are referred for DM1 genetic testing, leading to unrecognized but at-risk cases. When using conventional methods, the main technical problems are expanded-allele sizing and sensitivity to the presence of sequence interruptions. On a set of 50 individual genomes, including ten DM1 patients, we tested the performance of short-read whole-genome sequencing (WGS), one of the most up-to-date molecular testing methods. We identified all expansion-range DM1 alleles and characterized sequence interruptions in seven expansion-range/premutation-range alleles. Although neither the tested conventional methods, nor WGS allowed expanded-allele sizing, conventional methods provided higher sizing limits for normal-range alleles. Genotyping concordance rate was found to be 95-99\u00a0%. WGS was found to be superior in elucidating the sequence structure of the motifs, even if they fall outside the sizing limit (from partial reads). In addition, WGS enables the identification of genetic modifiers in other genes and the detection of alternative diagnoses in DM1-negative patients by extension of the bioinformatic evaluation of the generated data.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39710066"
+},
+{
+ "id": "pmid:39679849",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39679849",
+ "title": "Identification of ZNF850 as a novel CTG repeat expansion-related gene in myotonic dystrophy type 1 patient-derived iPSCs.",
+ "type": "article-journal",
+ "doi": "10.1093/hmg/ddae186",
+ "authors": [
+ ["Masayoshi", "Kamon"],
+ ["Shuji", "Wakatsuki"],
+ ["Masayuki", "Nakamori"],
+ ["Masanori P", "Takahashi"],
+ ["Madoka", "Mori-Yoshimura"],
+ ["Hirofumi", "Komaki"],
+ ["Toshiyuki", "Araki"]
+ ],
+ "publisher": "Human molecular genetics",
+ "issn": "1460-2083",
+ "date": "2024-12-16",
+ "abstract": "Myotonic dystrophy type 1 (DM1) is a dominantly inherited multi-system disease caused by expanded CTG repeats in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene. Similar to other repeat disorders, the expanded trinucleotide repeat is unstable and demonstrates a tendency to increase repeat size with age in affected tissues. DNA mismatch repair system is implicated in somatic instability. It has been demonstrated that DM1 patient-derived induced pluripotent stem cells (DM1-iPSCs) show repeat instability, in which involvement of mismatch repair proteins has been suggested. Here we identified ZNF850 as a novel CTG repeat expansion-related molecule in DM1-iPSCs. ZNF850 was downregulated in a DM1-iPSC clone whose CTG repeat is exceptionally stable. We found that RNAi-mediated ZNF850 downregulation in DM1-iPSCs significantly reduced the repeat expansion and resulting instability. In adult skeletal muscle tissue of DM1 patients, ZNF850 expression levels were positively correlated with the repeat size. Furthermore, we found that ZNF850 protein can bind to the expanded CTG repeat sequence, and is located in proximity to MutS\u03b2 components. These results suggest that ZNF850 might play a role in repeat instability in DM1 by recruiting MutS\u03b2 to the repeat sequence.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39679849"
+},
{
"id": "pmid:39492694",
"manubot_success": true,
@@ -76680,27 +72094,36 @@
},
{
"id": "pmid:29246312",
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/29246312",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:29246312']' timed out after 3 seconds"
+},
+{
+ "id": "pmid:29114849",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29246312",
- "title": "CRISPR/Cas9-Mediated Deletion of CTG Expansions Recovers Normal Phenotype in Myogenic Cells Derived from Myotonic Dystrophy 1 Patients.",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/29114849",
+ "title": "Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the U.K. Clinical Practice Research Datalink.",
"type": "article-journal",
- "doi": "10.1016/j.omtn.2017.10.006",
+ "doi": "10.1002/ijc.31143",
"authors": [
- ["Claudia", "Provenzano"],
- ["Marisa", "Cappella"],
- ["Rea", "Valaperta"],
- ["Rosanna", "Cardani"],
- ["Giovanni", "Meola"],
- ["Fabio", "Martelli"],
- ["Beatrice", "Cardinali"],
- ["Germana", "Falcone"]
+ ["Youjin", "Wang"],
+ ["Ruth M", "Pfeiffer"],
+ ["Rotana", "Alsaggaf"],
+ ["Wilhelmine", "Meeraus"],
+ ["Julia C", "Gage"],
+ ["Lesley A", "Anderson"],
+ ["Ren\u00e9e C", "Bremer"],
+ ["Nikoletta", "Nikolenko"],
+ ["Hanns", "Lochmuller"],
+ ["Mark H", "Greene"],
+ ["Shahinaz M", "Gadalla"]
],
- "publisher": "Molecular therapy. Nucleic acids",
- "issn": "2162-2531",
- "date": "2017-10-14",
- "abstract": "Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy, characterized by progressive myopathy, myotonia, and multi-organ involvement. This dystrophy is an inherited autosomal dominant disease caused by a (CTG)n expansion within the 3' untranslated region of the DMPK gene. Expression of the mutated gene results in production of toxic transcripts that aggregate as nuclear foci and sequester RNA-binding proteins, resulting in mis-splicing of several transcripts, defective translation, and microRNA dysregulation. No effective therapy is yet available for treatment of the disease. In this study, myogenic cell models were generated from myotonic dystrophy patient-derived fibroblasts. These cells exhibit typical disease-associated ribonuclear aggregates, containing CUG repeats and muscleblind-like 1 protein, and alternative splicing alterations. We exploited these cell models to develop new gene therapy strategies aimed at eliminating the toxic mutant repeats. Using the CRISPR/Cas9 gene-editing system, the repeat expansions were removed, therefore preventing nuclear foci formation and splicing alterations. Compared with the previously reported strategies of inhibition/degradation of CUG expanded transcripts by various techniques, the advantage of this approach is that affected cells can be permanently reverted to a normal phenotype.",
+ "publisher": "International journal of cancer",
+ "issn": "1097-0215",
+ "date": "2017-11-20",
+ "abstract": "Myotonic dystrophy type 1 (DM1) is an inherited multisystem neuromuscular disorder caused by a CTG trinucleotide repeat expansion in the DMPK gene. Recent evidence documents that DM1 patients have an increased risk of certain cancers, but whether skin cancer risks are elevated is unclear. Using the U.K. Clinical Practice Research Datalink (CPRD), we identified 1,061 DM1 patients and 15,119 DM1-free individuals matched on gender, birth year (\u00b12 years), attending practice and registration year (\u00b11 year). We calculated the hazard ratios (HRs) and 95% confidence intervals (CIs) for the association of DM1 diagnosis with skin cancer risk using Cox proportional hazards models, for all skin cancers combined and by histological subtype. Follow-up started at the latest of the age at practice registration, DM1 diagnosis/control selection or January 1st 1988, and ended at the earliest of the age at first skin cancer diagnosis, death, transfer out of the practice, last date of data collection or the end of the CPRD record (October 31, 2016). During a median follow-up of 3.6 years, 35 DM1 patients and 108 matched DM1-free individuals developed a skin cancer. DM1 patients had an increased risk of skin cancer overall (HR\u2009=\u20095.44, 95% CI\u2009=\u20093.33-8.89, p\u2009<\u20090.0001), and basal cell carcinoma (BCC) (HR\u2009=\u20095.78, 95% CI\u2009=\u20093.36-9.92, p\u2009<\u20090.0001). Risks did not differ by gender, or age at DM1 diagnosis (p-heterogeneity\u2009>\u20090.5). Our data confirm suggested associations between DM1 and skin neoplasms with the highest risk seen for BCC. Patients are advised to minimize ultraviolet light exposure and seek medical advice for suspicious lesions.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29246312"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29114849"
},
{
"id": "pmid:28942489",
@@ -77943,27 +73366,9 @@
},
{
"id": "pmid:20179953",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/20179953",
- "title": "Congenital myotonic dystrophy can show congenital fiber type disproportion pathology.",
- "type": "article-journal",
- "doi": "10.1007/s00401-010-0660-7",
- "authors": [
- ["Kayo", "Tominaga"],
- ["Yukiko K", "Hayashi"],
- ["Kanako", "Goto"],
- ["Narihiro", "Minami"],
- ["Satoru", "Noguchi"],
- ["Ikuya", "Nonaka"],
- ["Tetsuro", "Miki"],
- ["Ichizo", "Nishino"]
- ],
- "publisher": "Acta neuropathologica",
- "issn": "1432-0533",
- "date": "2010-02-24",
- "abstract": "Congenital myotonic dystrophy (CDM) is associated with markedly expanded CTG repeats in DMPK. The presence of numerous immature fibers with peripheral halo is a characteristic feature of CDM muscles together with hypotrophy of type 1 fibers. Smaller type 1 fibers with no structural abnormality are a definitive criterion of congenital fiber type disproportion (CFTD). Nonetheless, we recently came across a patient who was genetically confirmed as CDM, but had been earlier diagnosed as CFTD when he was an infant. In this study, we performed clinical, pathological, and genetic analyses in infantile patients pathologically diagnosed as CFTD to evaluate CDM patients indistinguishable from CFTD. We examined CTG repeat expansion in DMPK in 28 infantile patients pathologically diagnosed as CFTD. Mutation screening of ACTA1 and TPM3 was performed, and we compared clinical and pathological findings of 20 CDM patients with those of the other cohorts. We identified four (14%) patients with CTG expansion in DMPK. ACTA1 mutation was identified in four (14%), and TPM3 mutation was found in two (7%) patients. Fiber size disproportion was more prominent in patients with ACTA1 or TPM3 mutations as compared to CFTD patients with CTG expansion. A further three patients among 20 CDM patients showed pathological findings similar to CFTD. From our results, CDM should be excluded in CFTD patients.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20179953"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/20179953",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:20179953']' timed out after 3 seconds"
},
{
"id": "pmid:20171614",
@@ -79780,6 +75185,29 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8948631"
},
+{
+ "id": "pmid:8923304",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/8923304",
+ "title": "Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)?",
+ "type": "article-journal",
+ "doi": "10.1007/bf00873977",
+ "authors": [
+ ["C", "Abbruzzese"],
+ ["R", "Krahe"],
+ ["M", "Liguori"],
+ ["D", "Tessarolo"],
+ ["M J", "Siciliano"],
+ ["T", "Ashizawa"],
+ ["M", "Giacanelli"]
+ ],
+ "publisher": "Journal of neurology",
+ "issn": "0340-5354",
+ "date": "1996-10-01",
+ "abstract": "Myotonic dystrophy (DM) is associated with an expansion of an unstable (CTG)n repeat in the 3' untranslated region of the DM protein kinase (DMPK) gene on chromosome 19q13.3. We studied six patients from two families who showed no expansions of the repeat, in spite of their clinical diagnosis of DM. These patients had multi-systemic manifestations that were distinguishable from those seen in other myotonic disorders, including proximal myotonic myopathy (PROMM). In one additional family, two symptomatic members showed no expanded (CTG)n repeats, while their affected relatives had the expanded repeats. DM haplotype analysis failed to exclude the DMPK locus as a possible site of mutation in each family; however, DMPK mRNA levels were normal. We conclude that a mutation(s) other than the expanded (CTG)n repeat can cause the DM phenotype. The mutation(s) in these families remain(s) to be mapped and characterized.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8923304"
+},
{
"id": "pmid:8673131",
"manubot_success": true,
@@ -79991,30 +75419,75 @@
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8288237"
},
{
- "id": "pmid:39604554",
+ "id": "pmid:39723156",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39604554",
- "title": "Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population.",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39723156",
+ "title": "Triplex H-DNA structure: the long and winding road from the discovery to its role in human disease.",
"type": "article-journal",
- "doi": "10.1038/s41431-024-01743-3",
+ "doi": "10.1093/narmme/ugae024",
"authors": [
- ["Toshiyuki", "Kakumoto"],
- ["Kenta", "Orimo"],
- ["Takashi", "Matsukawa"],
- ["Jun", "Mitsui"],
- ["Tomohiko", "Ishihara"],
- ["Osamu", "Onodera"],
- ["Yuta", "Suzuki"],
- ["Shinichi", "Morishita"],
- ["Tatsushi", "Toda"],
- ["Shoji", "Tsuji"]
+ ["Julia A", "Hisey"],
+ ["Chiara", "Masnovo"],
+ ["Sergei M", "Mirkin"]
],
- "publisher": "European journal of human genetics : EJHG",
- "issn": "1476-5438",
- "date": "2024-11-27",
- "abstract": "Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic nervous system dysfunction and cerebellar ataxia or parkinsonism. Recently, expanded GAA repeats (\u2265250 repeat units) in intron 1 of FGF14 have been shown to be responsible for spinocerebellar ataxia type 27B (SCA27B), a late-onset ataxia with an autosomal dominant inheritance. Patients with SCA27B may also exhibit autonomic nervous system dysfunction, potentially overlapping with the clinical presentations of MSA patients. In this study, to explore the possible involvement of expanded GAA repeats in MSA, we investigated the frequencies of expanded GAA repeats in FGF14 in 548 patients with MSA, 476 patients with undiagnosed ataxia, and 455 healthy individuals. To fully characterize the structures of the expanded GAA repeats, long-range PCR products suggesting the expansion of GAA repeats were further analyzed using a long-read sequencer. Of the 548 Japanese MSA patients, we identified one MSA patient (0.2%) carrying an expanded repeat with (GAA)",
+ "publisher": "NAR molecular medicine",
+ "issn": "2976-856X",
+ "date": "2024-12-05",
+ "abstract": "H-DNA is an intramolecular DNA triplex formed by homopurine/homopyrimidine mirror repeats. Since its discovery, the field has advanced from characterizing the structure",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39604554"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39723156"
+},
+{
+ "id": "pmid:39666057",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39666057",
+ "title": "No evidence for association between GAA-FGF14 expansion and early onset cerebellar ataxia: a study on 85 undiagnosed patients.",
+ "type": "article-journal",
+ "doi": "10.1007/s00415-024-12765-8",
+ "authors": [
+ ["Clarisse", "Delvallee"],
+ ["Nad\u00e8ge", "Calmels"],
+ ["Thomas", "Bogdan"],
+ ["Christine", "Tranchant"],
+ ["Mathieu", "Anheim"],
+ ["Thomas", "Wirth"]
+ ],
+ "publisher": "Journal of neurology",
+ "issn": "1432-1459",
+ "date": "2024-12-12",
+ "abstract": "",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39666057"
+},
+{
+ "id": "pmid:39666053",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39666053",
+ "title": "How to distinguish spinocerebellar ataxia 27B from late onset cerebellar ataxia: insights from a case-control study.",
+ "type": "article-journal",
+ "doi": "10.1007/s00415-024-12738-x",
+ "authors": [
+ ["Raquel", "Pinheiro-Barbosa"],
+ ["Cheick", "Ciss\u00e9"],
+ ["Paulo", "Bastos"],
+ ["Cl\u00e9mence", "Leung"],
+ ["Anne Pavy-le", "Traon"],
+ ["Marc", "Kermorgant"],
+ ["Fabrice", "Bonneville"],
+ ["Mathilde", "Renaud"],
+ ["Cecile", "Bonnet"],
+ ["Marion", "Wandzel"],
+ ["Virginie", "Roth"],
+ ["Olivier", "Rascol"],
+ ["Fabienne", "Ory-Magne"],
+ ["Margherita", "Fabbri"]
+ ],
+ "publisher": "Journal of neurology",
+ "issn": "1432-1459",
+ "date": "2024-12-12",
+ "abstract": "Spinocerebellar ataxia 27B is the most common genetic late onset cerebellar ataxia (LOCA). However, it commonly overlaps with other genetic LOCA as with the cerebellar form of multiple system atrophy (MSA-C).",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39666053"
},
{
"id": "pmid:39574782",
@@ -80915,6 +76388,72 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:15470364"
},
+{
+ "id": "pmid:39725461",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39725461",
+ "title": "Trinucleotide Repeat Expansion and RNA Dysregulation in Fragile X Syndrome: Emerging Therapeutic Approaches.",
+ "type": "article-journal",
+ "doi": "10.1261/rna.080270.124",
+ "authors": [
+ ["Suna", "Jung"],
+ ["Joel D", "Richter"]
+ ],
+ "publisher": "RNA (New York, N.Y.)",
+ "issn": "1469-9001",
+ "date": "2024-12-26",
+ "abstract": "Fragile X Syndrome (FXS) is characterized by intellectual impairment caused by CGG repeat expansion in the FMR1 gene. When repeats exceed 200, they induce DNA methylation of the promoter and the repeat region, resulting in transcriptional silencing of the FMR1 gene and the subsequent loss of FMRP protein. In the past decade or so, research has focused on the role of FMRP as an RNA-binding protein involved in translation inhibition in the brain in FXS model mice, particularly by slowing or stalling ribosome translocation on mRNA. More recent advances have shown that FMRP has a profound role in RNA splicing, at least in some cases by modulating the translation of splicing factor mRNAs. In a surprise, the human FMR1 gene is transcribed in most cases even with a full CGG expansion. However, much of the FMR1 that is produced is mis-spliced, which can be corrected by splice-switching antisense oligonucleotide (ASO) administration. Other recent findings suggest that inhibition of multiple kinases can demethylate the FMR1 gene and induce the formation of an R-loop in the CGG repeat region, leading to contraction of the repeat and FMRP restoration. These insights are paving the way for possible future therapeutic approaches for this disorder. We highlight the importance of FMRP restoration by ASO-mediated splice switching or CGG repeat modulation as key advances that may lead to successful treatments for FXS.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39725461"
+},
+{
+ "id": "pmid:39684429",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39684429",
+ "title": "Ascorbic Acid Ameliorates Molecular and Developmental Defects in Human-Induced Pluripotent Stem Cell and Cerebral Organoid Models of Fragile X Syndrome.",
+ "type": "article-journal",
+ "doi": "10.3390/ijms252312718",
+ "authors": [
+ ["Keith M", "Gunapala"],
+ ["Aseel", "Gadban"],
+ ["Faiza", "Noreen"],
+ ["Primo", "Sch\u00e4r"],
+ ["Nissim", "Benvenisty"],
+ ["Verdon", "Taylor"]
+ ],
+ "publisher": "International journal of molecular sciences",
+ "issn": "1422-0067",
+ "date": "2024-11-26",
+ "abstract": "Fragile X Syndrome (FX) is the most common form of inherited cognitive impairment and falls under the broader category of Autism Spectrum Disorders (ASD). FX is caused by a CGG trinucleotide repeat expansion in the non-coding region of the X-linked",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39684429"
+},
+{
+ "id": "pmid:39654947",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39654947",
+ "title": "Genetics architecture of spontaneous coronary artery dissection in an Italian cohort.",
+ "type": "article-journal",
+ "doi": "10.3389/fcvm.2024.1486273",
+ "authors": [
+ ["Marta", "Casula"],
+ ["Daniela", "Marchetti"],
+ ["Lucia", "Trevisan"],
+ ["Laura", "Pezzoli"],
+ ["Matteo", "Bellini"],
+ ["Serena", "Patrone"],
+ ["Antonio", "Zingarelli"],
+ ["Fabio", "Gotta"],
+ ["Maria", "Iascone"],
+ ["Paola", "Mandich"]
+ ],
+ "publisher": "Frontiers in cardiovascular medicine",
+ "issn": "2297-055X",
+ "date": "2024-11-25",
+ "abstract": "Spontaneous coronary artery dissection (SCAD) is a relevant non-atherosclerotic cause of acute coronary syndrome with a complex genetic architecture. Recent discoveries have highlighted the potential role of miRNAs and protein-coding genes involved in the processing of small RNAs in the pathogenesis of SCAD. Furthermore, there may be a connection between SCAD and the increased cardiovascular risk observed in fragile X premutation carriers as well as a correlation with pathogenetic variants in genes encoding for collagen and extracellular matrix, which are related to connective tissue disorders (CTDs). In our cohort of 15 Italian SCAD patients, a total of 37 rare variants were identified in 34 genes using whole exome sequencing (WES) and TRIO-WES analysis when both parents were available. Three likely pathogenic/pathogenetic variants were found in genes previously associated with SCAD and CTDs (",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39654947"
+},
{
"id": "pmid:39588919",
"manubot_success": true,
@@ -83770,6 +79309,27 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31671347"
},
+{
+ "id": "pmid:31665086",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/31665086",
+ "title": "Neuropathology of RAN translation proteins in fragile X-associated tremor/ataxia syndrome.",
+ "type": "article-journal",
+ "doi": "10.1186/s40478-019-0782-7",
+ "authors": [
+ ["Amy", "Krans"],
+ ["Geena", "Skariah"],
+ ["Yuan", "Zhang"],
+ ["Bryana", "Bayly"],
+ ["Peter K", "Todd"]
+ ],
+ "publisher": "Acta neuropathologica communications",
+ "issn": "2051-5960",
+ "date": "2019-10-30",
+ "abstract": "CGG repeat expansions in FMR1 cause the neurodegenerative disorder Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). Ubiquitinated neuronal intranuclear inclusions (NIIs) are the neuropathological hallmark of FXTAS. Both sense strand derived CGG repeats and antisense strand derived CCG repeats support non-AUG initiated (RAN) translation of homopolymeric proteins in potentially 6 different reading frames. However, the relative abundance of these proteins in FXTAS brains and their co-localization with each other and NIIs is lacking. Here we describe rater-blinded assessment of immunohistochemical and immunofluorescence staining with newly generated antibodies to different CGG RAN translation products in FXTAS and control brains as well as co-staining with ubiquitin, p62/SQSTM1, and ubiquilin 2. We find that both FMRpolyG and a second CGG repeat derived RAN translation product, FMRpolyA, accumulate in aggregates in FXTAS brains. FMRpolyG is a near-obligate component of both ubiquitin-positive and p62-positive NIIs in FXTAS, with occurrence of aggregates in 20% of all hippocampal neurons and\u2009>\u200990% of all inclusions. A subset of these inclusions also stain positive for the ALS/FTD associated protein ubiquilin 2. Ubiquitinated inclusions and FMRpolyG+ aggregates are rarer in cortex and cerebellum. Intriguingly, FMRpolyG staining is also visible in control neuronal nuclei. In contrast to FMRpolyG, staining for FMRpolyA and CCG antisense derived RAN translation products were less abundant and less frequent components of ubiquitinated inclusions. In conclusion, RAN translated FMRpolyG is a common component of ubiquitin and p62 positive inclusions in FXTAS patient brains.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31665086"
+},
{
"id": "pmid:31632248",
"manubot_success": true,
@@ -93003,24 +88563,9 @@
},
{
"id": "pmid:8844068",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/8844068",
- "title": "Deletion in the FMR1 gene in a fragile-X male.",
- "type": "article-journal",
- "doi": "10.1002/(sici)1096-8628(19960809)64:2<293::aid-ajmg12>3.0.co;2-a",
- "authors": [
- ["A", "Mannermaa"],
- ["L", "Pulkkinen"],
- ["E", "Kajanoja"],
- ["M", "Ryyn\u00e4nen"],
- ["S", "Saarikoski"]
- ],
- "publisher": "American journal of medical genetics",
- "issn": "0148-7299",
- "date": "1996-08-09",
- "abstract": "The pathogenesis of Fragile-X syndrome is a consequence of absence of the FMR1 gene product associated with expansion of the CGG repeat and abnormal methylation of this and a CpG island 250 bp proximal to the CGG repeat located at exon 1 in the FMR1 gene. While this is usually the case, some suspected Fragile-X syndrome patients have been described with a mutation other than CGG expansion. We describe here an affected Fragile-X male, who was found to be mosaic of a full mutation of the CGG expansion and a deletion in the FMR1 gene. The patient's phenotype is probably mainly due to the effect of the full mutation of the repeat sequence. Thus, the influence of the deletion is difficult to evaluate.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8844068"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/8844068",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:8844068']' timed out after 3 seconds"
},
{
"id": "pmid:8844065",
@@ -93175,6 +88720,24 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8636996"
},
+{
+ "id": "pmid:8664297",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/8664297",
+ "title": "Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci.",
+ "type": "article-journal",
+ "doi": "10.1021/bi9601013",
+ "authors": [
+ ["C E", "Pearson"],
+ ["R R", "Sinden"]
+ ],
+ "publisher": "Biochemistry",
+ "issn": "0006-2960",
+ "date": "1996-04-16",
+ "abstract": "Most models proposed to explain the disease-associated expansion of (CTG)n.(CAG)n and (CGG)n.(CCG)n trinucleotide repeats include the formation of slipped strand DNA structures during replication; however, physical evidence for these alternative DNA secondary structures has not been reported. Using cloned fragments from the myotonic dystrophy (DM) and fragile X syndrome (FRAXA) loci containing normal, premutation, and full mutation lengths of repeats, we report the formation of novel alternative DNA secondary structures that map within the repeat tracts during reannealing of complementary strands, containing equal lengths of repeats, into linear duplex DNA molecules. Linear duplex DNA molecules containing these alternative DNA secondary structures are characterized by reduced electrophoretic mobilities in polyacrylamide gels. These alternative secondary structures are stable at physiological ionic strengths and to temperatures up to at least 55 degrees C. Following reduplexing, the CAG strand of the (CTG)n.(CAG)n repeats is preferentially sensitive to mung bean nuclease, suggesting the presence of single-stranded DNA in the alternative DNA structure. For (CTG)17, which is a repeat length found in normal individuals, less than 3% of the DNA molecules formed alternative DNA structures upon reduplexing. DNA molecules containing (CTG)50 or (CTG)255, which represent premutation and full mutation lengths of triplet repeats, respectively, formed a heterogeneous population of alternative DNA structures in >50% of DNA molecules. The complexity of the structures formed increased with the length of the triplet repeat. The relationship between repeat length and the propensity of formation and complexity of the novel structures correlates with the effect of repeat length on genetic instability in human diseases. These are the first results consistent with the existence of slipped strand DNA structures. The potential involvement of these structures, which we term S-DNA, in the gentic instability of triplet repeats is discussed.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8664297"
+},
{
"id": "pmid:8644711",
"manubot_success": true,
@@ -93868,24 +89431,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:1605199"
},
-{
- "id": "pmid:29100050",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29100050",
- "title": "A Therapeutic Double Whammy: Transcriptional or Post-transcriptional Suppression of Microsatellite Repeat Toxicity by Cas9.",
- "type": "article-journal",
- "doi": "10.1016/j.molcel.2017.10.023",
- "authors": [
- ["Ashish N", "Rao"],
- ["Thomas A", "Cooper"]
- ],
- "publisher": "Molecular cell",
- "issn": "1097-4164",
- "date": "2017-11-02",
- "abstract": "Microsatellite expansion diseases are caused by unstable tandem repeats of 3-10 nucleotides that become pathogenic beyond a threshold number of copies. Two groups present different approaches to reduce pathogenesis by targeting deactivated Cas9 to either the DNA (Pinto et\u00a0al., 2017) or the RNA (Batra et\u00a0al., 2017) repeats with therapeutic potential for several diseases.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29100050"
-},
{
"id": "pmid:22926839",
"manubot_success": true,
@@ -96566,31 +92111,9 @@
},
{
"id": "pmid:26401053",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/26401053",
- "title": "Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus.",
- "type": "article-journal",
- "doi": "10.1093/hmg/ddv397",
- "authors": [
- ["Yanjie", "Li"],
- ["Yue", "Lu"],
- ["Urszula", "Polak"],
- ["Kevin", "Lin"],
- ["Jianjun", "Shen"],
- ["Jennifer", "Farmer"],
- ["Lauren", "Seyer"],
- ["Angela D", "Bhalla"],
- ["Natalia", "Rozwadowska"],
- ["David R", "Lynch"],
- ["Jill Sergesketter", "Butler"],
- ["Marek", "Napierala"]
- ],
- "publisher": "Human molecular genetics",
- "issn": "1460-2083",
- "date": "2015-09-23",
- "abstract": "Friedreich's ataxia (FRDA) is a severe neurodegenerative disease caused by homozygous expansion of the guanine-adenine-adenine (GAA) repeats in intron 1 of the FXN gene leading to transcriptional repression of frataxin expression. Post-translational histone modifications that typify heterochromatin are enriched in the vicinity of the repeats, whereas active chromatin marks in this region are underrepresented in FRDA samples. Yet, the immediate effect of the expanded repeats on transcription progression through FXN and their long-range effect on the surrounding genomic context are two critical questions that remain unanswered in the molecular pathogenesis of FRDA. To address these questions, we conducted next-generation RNA sequencing of a large cohort of FRDA and control primary fibroblasts. This comprehensive analysis revealed that the GAA-induced silencing effect does not influence expression of neighboring genes upstream or downstream of FXN. Furthermore, no long-range silencing effects were detected across a large portion of chromosome 9. Additionally, results of chromatin immunoprecipitation studies confirmed that histone modifications associated with repressed transcription are confined to the FXN locus. Finally, deep sequencing of FXN pre-mRNA molecules revealed a pronounced defect in the transcription elongation rate in FRDA cells when compared with controls. These results indicate that approaches aimed to reactivate frataxin expression should simultaneously address deficits in transcription initiation and elongation at the FXN locus.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26401053"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/26401053",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:26401053']' timed out after 3 seconds"
},
{
"id": "pmid:26393353",
@@ -98813,6 +94336,54 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:15201464"
},
+{
+ "id": "pmid:15180699",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/15180699",
+ "title": "Molecular analysis of GAA repeats and four linked bi-allelic markers in and around the frataxin gene in patients and normal populations from India.",
+ "type": "article-journal",
+ "doi": "10.1046/j.1529-8817.2003.00087.x",
+ "authors": [
+ ["B", "Chattopadhyay"],
+ ["S", "Gupta"],
+ ["P K", "Gangopadhyay"],
+ ["S K", "Das"],
+ ["T", "Roy"],
+ ["S C", "Mukherjee"],
+ ["K K", "Sinha"],
+ ["B S", "Singhal"],
+ ["N P", "Bhattacharyya"]
+ ],
+ "publisher": "Annals of human genetics",
+ "issn": "0003-4800",
+ "date": "2004-05-01",
+ "abstract": "Friedreich ataxia (FRDA), the most common type of ataxia worldwide, is an autosomal recessive disease. Homozygous expansion of GAA repeats in the first intron of the frataxin gene constitute the major type of mutation that causes the disease. The prevalence of FRDA in diverse ethnic populations of India has not been widely studied. We have studied the distribution of polymorphic GAA repeats in the frataxin gene among 6 clinically diagnosed patients and 160 ethnically matched normal individuals, to gather information on the prevalence of FRDA in the eastern part of India. Homozygous expansion in the range of 250-730 GAA repeats was detected among the patients. Among normal individuals, we observed a unimodal distribution of GAA repeats, consisting of 10 different alleles ranging from 7 to 16 GAA repeats, where the 9 repeat allele had maximal frequency. Only 5.9% of all chromosomes were found to harbour >12 GAA repeats. Haplotype analysis using closely linked four bi-allelic markers in and around the frataxin gene indicated that 66.7% of the expanded alleles harbour the ATCC haplotype that has been reported worldwide. This haplotype was present in 53.3% of the chromosomes with >12 GAA repeats, and accounted for only 3.8% of chromosomes with 7 to 12 GAA repeats. We found one novel haplotype, ACCT, among the expanded alleles as well as among normal individuals, though at low frequency; this haplotype may be characteristic of Indian populations.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:15180699"
+},
+{
+ "id": "pmid:14978261",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/14978261",
+ "title": "Length-dependent structure formation in Friedreich ataxia (GAA)n*(TTC)n repeats at neutral pH.",
+ "type": "article-journal",
+ "doi": "10.1093/nar/gkh274",
+ "authors": [
+ ["V N", "Potaman"],
+ ["E A", "Oussatcheva"],
+ ["Y L", "Lyubchenko"],
+ ["L S", "Shlyakhtenko"],
+ ["S I", "Bidichandani"],
+ ["T", "Ashizawa"],
+ ["R R", "Sinden"]
+ ],
+ "publisher": "Nucleic acids research",
+ "issn": "1362-4962",
+ "date": "2004-02-20",
+ "abstract": "More than 15 human genetic diseases have been associated with the expansion of trinucleotide DNA repeats, which may involve the formation of non-duplex DNA structures. The slipped-strand nucleation of duplex DNA within GC-rich trinucleotide repeats may result in the changes of repeat length; however, such a mechanism seems less likely for the AT-rich (GAA)n*(TTC)n repeats. Using two-dimensional agarose gels, chemical probing and atomic force microscopy, we characterized the formation of non-B-DNA structures in the Friedreich ataxia-associated (GAA)n*(TTC)n repeats from the FRDA gene that were cloned with flanking genomic sequences into plasmids. For the normal genomic repeat length (n = 9) our data are consistent with the formation of a very stable protonated intramolecular triplex (H-DNA). Its stability at pH 7.4 is likely due to the high proportion of the T.A.T triads which form within the repeats as well as in the immediately adjacent AT-rich sequences with a homopurine. homopyrimidine bias. At the long normal repeat length (n = 23), a family of H-DNAs of slightly different sizes has been detected. At the premutation repeat length (n = 42) and higher negative supercoiling, the formation of a single H-DNA structure becomes less favorable and the data are consistent with the formation of a bi-triplex structure.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:14978261"
+},
{
"id": "pmid:14962663",
"manubot_success": true,
@@ -99505,26 +95076,9 @@
},
{
"id": "pmid:9339708",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/9339708",
- "title": "Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene.",
- "type": "article-journal",
- "doi": "10.1212/wnl.49.4.1153",
- "authors": [
- ["C", "Gellera"],
- ["D", "Pareyson"],
- ["B", "Castellotti"],
- ["F", "Mazzucchelli"],
- ["B", "Zappacosta"],
- ["M", "Pandolfo"],
- ["S", "Di Donato"]
- ],
- "publisher": "Neurology",
- "issn": "0028-3878",
- "date": "1997-10-01",
- "abstract": "Molecular analysis of spinocerebellar ataxias revealed a pathologic GAA expansion in the gene encoding frataxin in six adult patients from three families. These patients, carrying expanded alleles in the low-range size, had an exceptionally late onset and lacked cardiomyopathy, pointing to phenotypic variability of Friedreich's ataxia. Both mitotic and gametic instability of the expanded triplet repeat were present in these families.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9339708"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/9339708",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:9339708']' timed out after 3 seconds"
},
{
"id": "pmid:9339680",
@@ -100053,6 +95607,30 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22521844"
},
+{
+ "id": "pmid:39651202",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39651202",
+ "title": "Insights into the causes and consequences of DNA repeat expansions from 700,000 biobank participants.",
+ "type": "article-journal",
+ "doi": "10.1101/2024.11.25.625248",
+ "authors": [
+ ["Margaux L A", "Hujoel"],
+ ["Robert E", "Handsaker"],
+ ["Nolan", "Kamitaki"],
+ ["Ronen E", "Mukamel"],
+ ["Simone", "Rubinacci"],
+ ["Pier F", "Palamara"],
+ ["Steven A", "McCarroll"],
+ ["Po-Ru", "Loh"]
+ ],
+ "publisher": "bioRxiv : the preprint server for biology",
+ "issn": "2692-8205",
+ "date": "2024-11-26",
+ "abstract": "Expansions and contractions of tandem DNA repeats are a source of genetic variation in human populations and in human tissues: some expanded repeats cause inherited disorders, and some are also somatically unstable. We analyzed DNA sequence data, derived from the blood cells of >700,000 participants in UK Biobank and the",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39651202"
+},
{
"id": "pmid:38877099",
"manubot_success": true,
@@ -100492,6 +96070,139 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12116248"
},
+{
+ "id": "pmid:39713241",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39713241",
+ "title": "Mutant huntingtin protein decreases with CAG repeat expansion: implications for therapeutics and bioassays.",
+ "type": "article-journal",
+ "doi": "10.1093/braincomms/fcae410",
+ "authors": [
+ ["Christian", "Landles"],
+ ["Georgina F", "Osborne"],
+ ["Jemima", "Phillips"],
+ ["Maria", "Canibano-Pico"],
+ ["Iulia M", "Nita"],
+ ["Nadira", "Ali"],
+ ["Konstantin", "Bobkov"],
+ ["Jonathan R", "Greene"],
+ ["Kirupa", "Sathasivam"],
+ ["Gillian P", "Bates"]
+ ],
+ "publisher": "Brain communications",
+ "issn": "2632-1297",
+ "date": "2024-11-15",
+ "abstract": "Huntington's disease is an inherited neurodegenerative disorder caused by a CAG repeat expansion that encodes a polyglutamine tract in the huntingtin (HTT) protein. The mutant CAG repeat is unstable and expands in specific brain cells and peripheral tissues throughout life. Genes involved in the DNA mismatch repair pathways, known to act on expansion, have been identified as genetic modifiers; therefore, it is the rate of somatic CAG repeat expansion that drives the age of onset and rate of disease progression. In the context of an expanded CAG repeat, the",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39713241"
+},
+{
+ "id": "pmid:39676657",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39676657",
+ "title": "Navigating triplet repeats sequencing: concepts, methodological challenges and perspective for Huntington's disease.",
+ "type": "article-journal",
+ "doi": "10.1093/nar/gkae1155",
+ "authors": [
+ ["Simone", "Maestri"],
+ ["Davide", "Scalzo"],
+ ["Gianluca", "Damaggio"],
+ ["Martina", "Zobel"],
+ ["Dario", "Besusso"],
+ ["Elena", "Cattaneo"]
+ ],
+ "publisher": "Nucleic acids research",
+ "issn": "1362-4962",
+ "date": "2024-12-16",
+ "abstract": "The accurate characterization of triplet repeats, especially the overrepresented CAG repeats, is increasingly relevant for several reasons. First, germline expansion of CAG repeats above a gene-specific threshold causes multiple neurodegenerative disorders; for instance, Huntington's disease (HD) is triggered by >36 CAG repeats in the huntingtin (HTT) gene. Second, extreme expansions up to 800 CAG repeats have been found in specific cell types affected by the disease. Third, synonymous single nucleotide variants within the CAG repeat stretch influence the age of disease onset. Thus, new sequencing-based protocols that profile both the length and the exact nucleotide sequence of triplet repeats are crucial. Various strategies to enrich the target gene over the background, along with sequencing platforms and bioinformatic pipelines, are under development. This review discusses the concepts, challenges, and methodological opportunities for analyzing triplet repeats, using HD as a case study. Starting with traditional approaches, we will explore how sequencing-based methods have evolved to meet increasing scientific demands. We will also highlight experimental and bioinformatic challenges, aiming to provide a guide for accurate triplet repeat characterization for diagnostic and therapeutic purposes.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39676657"
+},
+{
+ "id": "pmid:39669608",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39669608",
+ "title": "Ascertainment of uninterrupted CAG repeat length and disease-modifying variants in fragment-based genetic testing for Huntington Disease.",
+ "type": "article-journal",
+ "doi": "10.1016/j.gimo.2024.101882",
+ "authors": [
+ ["Hailey", "Findlay Black"],
+ ["Chris", "Kay"],
+ ["Jessica", "Dawson"],
+ ["Stephanie", "Bortnick"],
+ ["Kyla", "Javier"],
+ ["Qingwen", "Xia"],
+ ["Cheuk Hin", "Chau"],
+ ["Tess", "Leavitt"],
+ ["Larissa", "Arning"],
+ ["Huu Phuc", "Nguyen"],
+ ["Michael R", "Hayden"]
+ ],
+ "publisher": "Genetics in medicine open",
+ "issn": "2949-7744",
+ "date": "2024-08-02",
+ "abstract": "In Huntington disease (HD), synonymous variants causing loss or duplication of the interrupting CAA codon in the",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39669608"
+},
+{
+ "id": "pmid:39666103",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39666103",
+ "title": "Frequency and neuropathology of HTT repeat expansions in FTD/ALS: co-existence rather than causation.",
+ "type": "article-journal",
+ "doi": "10.1007/s00415-024-12822-2",
+ "authors": [
+ ["Milan", "Zimmermann"],
+ ["David", "Mengel"],
+ ["Katrin", "Raupach"],
+ ["Tobias", "Haack"],
+ ["Manuela", "Neumann"],
+ ["Matthis", "Synofzik"]
+ ],
+ "publisher": "Journal of neurology",
+ "issn": "1432-1459",
+ "date": "2024-12-12",
+ "abstract": "While\u2009\u2265\u200940 CAG repeat expansions in HTT present a well-established cause of Huntington's disease (HD), an enrichment of HTT repeat expansions was recently reported also in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), including FTD/ALS patients with additional HD neuropathology. This raises the question whether the phenotypic spectrum of HTT expansions can be extended to ALS and FTD, and whether HTT should be considered as a new causative gene of FTD/ALS. If HTT repeat expansions were indeed systematically related to FTD/ALS, one would expect an increased frequency\u00a0of HTT carriers in FTD/ALS, who can clinically/neuropathologically not be explained better than by the presence of the HTT repeat expansions.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39666103"
+},
+{
+ "id": "pmid:39662690",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39662690",
+ "title": "Distinct roles of ascorbic acid in extracellular vesicles and free form: Implications for metabolism and oxidative stress in presymptomatic Huntington's disease.",
+ "type": "article-journal",
+ "doi": "10.1016/j.freeradbiomed.2024.12.001",
+ "authors": [
+ ["Felipe A", "Beltr\u00e1n"],
+ ["Leandro", "Torres-D\u00edaz L"],
+ ["Paulina", "Troncoso-Escudero"],
+ ["Juan", "Villalobos-Gonz\u00e1lez"],
+ ["Gonzalo", "Mayorga-Weber"],
+ ["Marcelo", "Lara"],
+ ["Adriana", "Covarrubias-Pinto"],
+ ["Sharin", "Valdivia"],
+ ["Isidora", "Vicencio"],
+ ["Eduardo", "Papic"],
+ ["Carolina", "Paredes-Mart\u00ednez"],
+ ["Mara E", "Silva-Janu\u00e0rio"],
+ ["Alejandro", "Rojas"],
+ ["Luis L P", "daSilva"],
+ ["Felipe", "Court"],
+ ["Abraham", "Rosas-Arellano"],
+ ["Luis Federico", "B\u00e1tiz"],
+ ["Patricio", "Rojas"],
+ ["Francisco J", "Rivera"],
+ ["Maite A", "Castro"]
+ ],
+ "publisher": "Free radical biology & medicine",
+ "issn": "1873-4596",
+ "date": "2024-12-09",
+ "abstract": "Huntington's disease (HD) is a neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the first exon of the huntingtin gene. The huntingtin protein (Htt) is ubiquitously expressed and localized in several organelles, including endosomes, where it plays an essential role in intracellular trafficking. Presymptomatic HD is associated with a failure in energy metabolism and oxidative stress. Ascorbic acid is a potent antioxidant that plays a key role in modulating neuronal metabolism and is highly concentrated in the brain. During synaptic activity, neurons take up ascorbic acid released by glial cells; however, this process is disrupted in HD. In this study, we aim to elucidate the molecular and cellular mechanisms underlying this dysfunction. Using an electrophysiological approach in presymptomatic YAC128 HD slices, we observed decreased ascorbic acid flux from astrocytes to neurons, which altered neuronal metabolic substrate preferences. Ascorbic acid efflux and recycling were also decreased in cultured astrocytes from YAC128 HD mice. We confirmed our findings using GFAP-HD160Q, an HD mice model expressing mutant N-terminal Htt mainly in astrocytes. For the first time, we demonstrated that ascorbic acid is released from astrocytes via extracellular vesicles (EVs). Decreased number of particles and exosomal markers were observed in EV fractions from cultured YAC128 HD astrocytes and Htt-KD cells. We observed reduced number of multivesicular bodies (MVBs) in YAC128 HD striatum via electron microscopy, suggesting mutant Htt alters MVB biogenesis. EVs containing ascorbic acid effectively reduced reactive oxygen species, whereas \"free\" ascorbic acid played a role in modulating neuronal metabolic substrate preferences. These findings suggest that the early redox imbalance observed in HD arises from a reduced release of ascorbic acid-containing EVs by astrocytes. Meanwhile, a decrease in \"free\" ascorbic acid likely contributes to presymptomatic metabolic impairment.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39662690"
+},
{
"id": "pmid:39627841",
"manubot_success": true,
@@ -100536,7 +96247,7 @@
"id": "pmid:39617003",
"manubot_success": true,
"link": "https://www.ncbi.nlm.nih.gov/pubmed/39617003",
- "title": "How many people have a Huntington's Disease expansion: A population-based prevalence study in Northern Scotland.",
+ "title": "How Many People Have a Huntington's Disease Expansion: A Population-Based Prevalence Study in Northern Scotland.",
"type": "article-journal",
"doi": "10.1159/000542739",
"authors": [
@@ -100546,7 +96257,7 @@
"publisher": "Neuroepidemiology",
"issn": "1423-0208",
"date": "2024-11-29",
- "abstract": "Background Previous work demonstrated a prevalence of 14.6 per 100,000 manifest Huntington's disease (HD) patients and 8.3 per 100,000 identified pre-symptomatic gene expansion carriers (IPGEC) in Northern Scotland. Many of those at high risk of having a huntingtin (HTT) gene expansion remain untested with the exact number being unknown. Objectives To estimate how many people in Northern Scotland are at 50% risk of having a HTT gene expansion to help with HD clinic service planning and to calculate how many people could access an effective treatment if available. Methods Clinical and pedigree records from the North of Scotland Genetic Clinic were examined to estimate numbers of manifest HD patients, IPGEC, and individuals at 50% risk. Results The prevalence of those at 50% risk living in Northern Scotland was 45.2 per 100,000 people. Every manifest HD patient in Northern Scotland has 4.4 relatives at 50% risk and every patient with a HTT gene expansion has 2.9 relatives at 50% risk. There are up to 415 (46.2 per 100,000) adults who could access an effective treatment if available, but this number is likely to be an underestimate as not all manifesting individuals seek diagnosis. Conclusions Despite high predictive testing rates, at least 2.2 adults are living with the HTT gene expansion for every one of the 14.5 per 100,000 manifest HD patients in Northern Scotland. Regional variation in rates and ascertainment need to be factored into future service planning, including: genetic counselling and testing, management, and treatment delivery.",
+ "abstract": "Previous work demonstrated a prevalence of 14.6 per 100,000 manifest Huntington's disease (HD) patients and 8.3 per 100,000 identified pre-symptomatic gene expansion carriers (IPGEC) in Northern Scotland. Many of those at high risk of having a huntingtin (HTT) gene expansion remain untested with the exact number being unknown.",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39617003"
},
@@ -100622,25 +96333,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39574844"
},
-{
- "id": "pmid:39500579",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39500579",
- "title": "Restoring Compromised Cl",
- "type": "article-journal",
- "doi": "10.1523/jneurosci.0215-24.2024",
- "authors": [
- ["Melissa", "Serranilla"],
- ["Jessica C", "Pressey"],
- ["Melanie A", "Woodin"]
- ],
- "publisher": "The Journal of neuroscience : the official journal of the Society for Neuroscience",
- "issn": "1529-2401",
- "date": "2024-11-05",
- "abstract": "Huntington's disease (HD) is a progressive neurodegenerative disorder with no cure, characterized by significant neurodegeneration of striatal GABAergic medium spiny neurons (MSNs). Early stages of the disease are characterized by the loss of dopamine 2 receptor-expressing MSNs (D2 MSNs) followed by degeneration of dopamine 1 receptor-expressing MSNs (D1 MSNs), leading to aberrant basal ganglia signaling. While the early degeneration of D2 MSNs and impaired GABAergic transmission are well-documented, potassium chloride cotransporter 2 (KCC2), a key regulator of intracellular chloride (Cl",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39500579"
-},
{
"id": "pmid:39473968",
"manubot_success": true,
@@ -100806,7 +96498,7 @@
],
"publisher": "Journal of neurology, neurosurgery, and psychiatry",
"issn": "1468-330X",
- "date": "2024-09-06",
+ "date": "2024-12-16",
"abstract": "",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39242198"
@@ -100884,7 +96576,7 @@
"id": "pmid:39155061",
"manubot_success": true,
"link": "https://www.ncbi.nlm.nih.gov/pubmed/39155061",
- "title": "Exon 1-targeting miRNA reduces the pathogenic exon 1 HTT protein in Huntington disease models.",
+ "title": "Exon 1-targeting miRNA reduces the pathogenic exon 1 HTT protein in Huntington's disease models.",
"type": "article-journal",
"doi": "10.1093/brain/awae266",
"authors": [
@@ -100902,8 +96594,8 @@
],
"publisher": "Brain : a journal of neurology",
"issn": "1460-2156",
- "date": "2024-08-18",
- "abstract": "Huntington disease (HD) is a fatal neurodegenerative disease caused by a trinucleotide repeat expansion in exon 1 of the huntingtin gene (HTT) resulting in toxic gain-of-function and cell death. Despite its monogenic cause, the pathogenesis of HD is highly complex and increasing evidence indicates that, in addition to the full-length (FL) mutant HTT protein, the expanded exon 1 HTT (HTTexon1) protein that is translated from the HTT1a transcript generated by aberrant splicing is prone to aggregate and may contribute to HD pathology. This finding suggests that reducing the expression of HTT1a may achieve a greater therapeutic benefit than targeting only FL mutant HTT. Conversely, strategies that exclusively target FL HTT may not fully prevent the pathogenesis of HD. We have developed an engineered microRNA targeting the HTT exon 1 sequence (miHTT), delivered via adeno-associated virus serotype 5 (AAV5). The target sequence of miHTT is present in both FL HTT and HTT1a transcripts. Preclinical studies with AAV5-miHTT have demonstrated efficacy in several rodent and large animal models by reducing FL HTT mRNA and protein and rescuing HD-like phenotypes, and have been the rationale for phase I/II clinical studies now ongoing in the US and Europe. In the present study, we evaluated the ability of AAV5-miHTT to reduce the levels of aberrantly spliced HTT1a mRNA and the HTTexon1 protein in the brain of two mouse models of HD (heterozygous zQ175 knock-in mice and humanized Hu128/21 mice). Polyadenylated HTT1a mRNA and HTTexon1 protein were detected in the striatum and cortex of heterozygous zQ175 knock-in mice, but not in wild-type, littermate control mice. Intrastriatal administration of AAV5-miHTT resulted in dose-dependent expression of mature miHTT microRNA in cortical brain regions, accompanied by significant lowering of both FL HTT and HTT1a mRNA expression at two months post-injection. Mutant HTT and HTTexon1 protein levels were also significantly reduced in the striatum and cortex of heterozygous zQ175 knock-in at 2 months after AAV5-miHTT treatment and in humanized Hu128/21 mice 7 months post-treatment. The effects were confirmed in primary Hu128/21 neuronal cultures. These results demonstrate that AAV5-miHTT gene therapy is an effective approach to lower both FL HTT and the pathogenic HTTexon1 levels, which could potentially have an additive therapeutic benefit compared to other HTT-targeting modalities.",
+ "date": "2024-12-03",
+ "abstract": "Huntington's disease (HD) is a fatal neurodegenerative disease caused by a trinucleotide repeat expansion in exon 1 of the huntingtin gene (HTT) that results in toxic gain of function and cell death. Despite its monogenic cause, the pathogenesis of HD is highly complex, and increasing evidence indicates that, in addition to the full-length (FL) mutant HTT protein, the expanded exon 1 HTT (HTTexon1) protein that is translated from the HTT1a transcript generated by aberrant splicing is prone to aggregate and might contribute to HD pathology. This finding suggests that reducing the expression of HTT1a might achieve a greater therapeutic benefit than targeting only FL mutant HTT. Conversely, strategies that exclusively target FL HTT might not completely prevent the pathogenesis of HD. We have developed an engineered microRNA targeting the HTT exon 1 sequence (miHTT), delivered via adeno-associated virus serotype 5 (AAV5). The target sequence of miHTT is present in both FL HTT and HTT1a transcripts. Preclinical studies with AAV5-miHTT have demonstrated efficacy in several rodent and large animal models by reducing FL HTT mRNA and protein and rescuing HD-like phenotypes and have been the rationale for phase I/II clinical studies now ongoing in the USA and Europe. In the present study, we evaluated the ability of AAV5-miHTT to reduce the levels of aberrantly spliced HTT1a mRNA and the HTTexon1 protein in the brain of two mouse models of HD (heterozygous zQ175 knock-in mice and humanized Hu128/21 mice). Polyadenylated HTT1a mRNA and HTTexon1 protein were detected in the striatum and cortex of heterozygous zQ175 knock-in mice, but not in wild-type littermate control mice. Intrastriatal administration of AAV5-miHTT resulted in dose-dependent expression of mature miHTT microRNA in cortical brain regions, accompanied by significant lowering of both FL HTT and HTT1a mRNA expression at 2 months postinjection. Mutant HTT and HTTexon1 protein levels were also significantly reduced in the striatum and cortex of heterozygous zQ175 knock-in mice at 2 months after AAV5-miHTT treatment and in humanized Hu128/21 mice 7 months post-treatment. The effects were confirmed in primary Hu128/21 neuronal cultures. These results demonstrate that AAV5-miHTT gene therapy is an effective approach to lower both FL HTT and the pathogenic HTTexon1 levels, which could potentially have an additive therapeutic benefit in comparison to other HTT-targeting modalities.",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39155061"
},
@@ -101855,6 +97547,31 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38137557"
},
+{
+ "id": "pmid:38092667",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/38092667",
+ "title": "A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease.",
+ "type": "article-journal",
+ "doi": "10.1111/cge.14472",
+ "authors": [
+ ["Antonio", "Canosa"],
+ ["Sara", "Cabras"],
+ ["Francesca", "Di Pede"],
+ ["Umberto", "Manera"],
+ ["Rosario", "Vasta"],
+ ["Cristina", "Moglia"],
+ ["Andrea", "Calvo"],
+ ["Salvatore", "Gallone"],
+ ["Adriano", "Chi\u00f2"]
+ ],
+ "publisher": "Clinical genetics",
+ "issn": "1399-0004",
+ "date": "2023-12-13",
+ "abstract": "Recently, pathogenic expansions (range 40-64 CAG repeats) in the HTT gene have been found in patients diagnosed with pure frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS). We report a mother with Huntington's disease (HD) associated with motor neuron disease (MND) signs and her daughter suffering from ALS with subtle signs of HD, both carrying a pathogenic allele of the HTT gene (i.e., >39 repeats). The co-occurrence of MND and chorea has been reported in previous cases. Subjects showing both ALS and HD signs and carrying HTT pathogenic expansions in two generations of the same kindred have never been reported so far. The study of the overlap of disease mechanisms at the cellular level between TDP-43 and Huntingtin is relevant in an era offering promising strategies of targeted treatments in neurodegenerative disorders.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38092667"
+},
{
"id": "pmid:38035176",
"manubot_success": true,
@@ -101981,11 +97698,11 @@
"id": "pmid:37855597",
"manubot_success": true,
"link": "https://www.ncbi.nlm.nih.gov/pubmed/37855597",
- "title": "Dilemma in Differentiation of Spinocerebellar Ataxia Type 17 from Huntington's Disease\uff1aComorbidity or Independent Disease?",
+ "title": "Dilemma in differentiation of spinocerebellar ataxia type 17 from Huntington's disease: comorbidity or independent disease?",
"type": "article-journal",
"doi": "10.1080/00207454.2023.2273766",
"authors": [
- ["An", "Li"],
+ ["Li", "An"],
["Sheng", "Yao"],
["Jianguo", "Liu"],
["Xiaokun", "Qi"],
@@ -101994,7 +97711,7 @@
],
"publisher": "The International journal of neuroscience",
"issn": "1563-5279",
- "date": "2023-10-19",
+ "date": "2023-10-31",
"abstract": "Both Huntington's disease (HD) and Spinocerebellar ataxia 17 (SCA17) mutations showed expanded CAG repeats, with overlapping clinical manifestation: motor disorders, psychiatric symptoms and cognitive impairments. Therefore, SCA17 is also called Huntington like disease (HD-like, HDL) type 4. In this paper, we reported that one patient had 47 CAG repeats in HTT gene and 42 CAG repeats in TBP gene. There is a dilemma in differentiation of SCA 17 from HD in one patient, never been reported before. Is the diagnosis comorbidity of HD with SCA17 or HD only?",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37855597"
@@ -102962,6 +98679,26 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36458209"
},
+{
+ "id": "pmid:36427954",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/36427954",
+ "title": "The microbiota-gut-brain axis in Huntington's disease.",
+ "type": "article-journal",
+ "doi": "10.1016/bs.irn.2022.06.005",
+ "authors": [
+ ["Chloe J", "Love"],
+ ["Bethany A", "Masson"],
+ ["Carolina", "Gubert"],
+ ["Anthony J", "Hannan"]
+ ],
+ "publisher": "International review of neurobiology",
+ "issn": "2162-5514",
+ "date": "2022-10-28",
+ "abstract": "Huntington's disease (HD) is a fatal neurodegenerative disorder caused by an autosomal dominant trinucleotide (CAG) tandem repeat, resulting in complex motor, psychiatric and cognitive symptoms as well as gastrointestinal disturbances and other peripheral symptoms. There are currently no disease-modifying treatments, and the peripheral pathology of the disorder is not well understood. Emerging evidence suggests that the bi-directional communication pathways between the gut and the brain, including the microbiota-gut-brain axis, can affect motor, psychiatric and cognitive symptoms as well as weight loss and sexual dimorphism seen in HD. Furthermore, both HD and the microbiota-gut-brain axis can be influenced by environmental factors, opening potential new avenues to explore therapeutic options for this devastating disorder.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36427954"
+},
{
"id": "pmid:36352624",
"manubot_success": true,
@@ -104029,23 +99766,9 @@
},
{
"id": "pmid:35099257",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35099257",
- "title": "Absence of a significant interaction of two common NOS1 and 5-HTT polymorphisms on sensorimotor gating in humans.",
- "type": "article-journal",
- "doi": "10.33549/physiolres.934819",
- "authors": [
- ["R", "Rovn\u00fd"],
- ["M", "Marko"],
- ["G", "Min\u00e1rik"],
- ["I", "Rie\u010dansk\u00fd"]
- ],
- "publisher": "Physiological research",
- "issn": "1802-9973",
- "date": "2021-12-31",
- "abstract": "The neurotransmitter serotonin has been critically implicated in the pathogenesis of several mental disorders. The serotonin transporter (5-HTT) is a key regulator of serotonergic neurotransmission and its genetic variability is associated with increased risk of psychopathology. One well known polymorphic locus in the 5-HTT gene affecting its expression is a tandem repeat in the promoter region (5-HTTLPR). It has been reported that 5-HTT is functionally coupled with the neuronal nitric oxide synthase (NOS1 or nNOS), an enzyme catalyzing the production of nitric oxide (NO). We have previously demonstrated that a tandem repeat polymorphism in the promoter of NOS1 exon 1f (Ex1f-VNTR) is associated with sensorimotor gating, a marker of inhibitory processing and a well established endophenotype of several neuropsychiatric disorders. Here we investigated the combined genetic effects of NOS1 Ex1f-VNTR and 5-HTTLPR on sensorimotor gating, measured by prepulse inhibition (PPI) of the acoustic startle reflex, in 164 healthy adults. We found no evidence for the interaction between NOS1 Ex1f-VNTR and 5-HTTLPR on PPI. PPI was associated with NOS1 Ex1f-VNTR, but not 5-HTTLPR. Our data suggest that while NOS1 plays a role in sensorimotor gating, the nitrergic pathway of gating regulation does not involve the action of 5-HTT.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35099257"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/35099257",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:35099257']' timed out after 3 seconds"
},
{
"id": "pmid:35095420",
@@ -106049,6 +101772,71 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33247537"
},
+{
+ "id": "pmid:33242422",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33242422",
+ "title": "Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.",
+ "type": "article-journal",
+ "doi": "10.1016/j.neuron.2020.11.005",
+ "authors": [
+ ["Ramita", "Dewan"],
+ ["Ruth", "Chia"],
+ ["Jinhui", "Ding"],
+ ["Richard A", "Hickman"],
+ ["Thor D", "Stein"],
+ ["Yevgeniya", "Abramzon"],
+ ["Sarah", "Ahmed"],
+ ["Marya S", "Sabir"],
+ ["Makayla K", "Portley"],
+ ["Arianna", "Tucci"],
+ ["Kristina", "Ib\u00e1\u00f1ez"],
+ ["F N U", "Shankaracharya"],
+ ["Pamela", "Keagle"],
+ ["Giacomina", "Rossi"],
+ ["Paola", "Caroppo"],
+ ["Fabrizio", "Tagliavini"],
+ ["Maria L", "Waldo"],
+ ["Per M", "Johansson"],
+ ["Christer F", "Nilsson"],
+ ["James B", "Rowe"],
+ ["Luisa", "Benussi"],
+ ["Giuliano", "Binetti"],
+ ["Roberta", "Ghidoni"],
+ ["Edwin", "Jabbari"],
+ ["Coralie", "Viollet"],
+ ["Jonathan D", "Glass"],
+ ["Andrew B", "Singleton"],
+ ["Vincenzo", "Silani"],
+ ["Owen A", "Ross"],
+ ["Mina", "Ryten"],
+ ["Ali", "Torkamani"],
+ ["Toshiko", "Tanaka"],
+ ["Luigi", "Ferrucci"],
+ ["Susan M", "Resnick"],
+ ["Stuart", "Pickering-Brown"],
+ ["Christopher B", "Brady"],
+ ["Neil", "Kowal"],
+ ["John A", "Hardy"],
+ ["Vivianna", "Van Deerlin"],
+ ["Jean Paul", "Vonsattel"],
+ ["Matthew B", "Harms"],
+ ["Huw R", "Morris"],
+ ["Raffaele", "Ferrari"],
+ ["John E", "Landers"],
+ ["Adriano", "Chi\u00f2"],
+ ["J Raphael", "Gibbs"],
+ ["Clifton L", "Dalgard"],
+ ["Sonja W", "Scholz"],
+ ["Bryan J", "Traynor"]
+ ],
+ "publisher": "Neuron",
+ "issn": "1097-4199",
+ "date": "2020-11-26",
+ "abstract": "We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40-64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington's disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33242422"
+},
{
"id": "pmid:33228555",
"manubot_success": true,
@@ -106468,32 +102256,9 @@
},
{
"id": "pmid:32696070",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/32696070",
- "title": "Artificial miRNAs targeting CAG repeat expansion in ORFs cause rapid deadenylation and translation inhibition of mutant transcripts.",
- "type": "article-journal",
- "doi": "10.1007/s00018-020-03596-7",
- "authors": [
- ["Adam", "Ciesiolka"],
- ["Anna", "Stroynowska-Czerwinska"],
- ["Pawe\u0142", "Joachimiak"],
- ["Agata", "Ciolak"],
- ["Emilia", "Kozlowska"],
- ["Michal", "Michalak"],
- ["Magdalena", "Dabrowska"],
- ["Marta", "Olejniczak"],
- ["Katarzyna D", "Raczynska"],
- ["Dominika", "Zielinska"],
- ["Magdalena", "Wozna-Wysocka"],
- ["Wlodzimierz J", "Krzyzosiak"],
- ["Agnieszka", "Fiszer"]
- ],
- "publisher": "Cellular and molecular life sciences : CMLS",
- "issn": "1420-9071",
- "date": "2020-07-21",
- "abstract": "Polyglutamine (polyQ) diseases are incurable neurological disorders caused by CAG repeat expansion in the open reading frames (ORFs) of specific genes. This type of mutation in the HTT gene is responsible for Huntington's disease (HD). CAG repeat-targeting artificial miRNAs (art-miRNAs) were shown as attractive therapeutic approach for polyQ disorders as they caused allele-selective decrease in the level of mutant proteins. Here, using polyQ disease models, we aimed to demonstrate how miRNA-based gene expression regulation is dependent on target sequence features. We show that the silencing efficiency and selectivity of art-miRNAs is influenced by the localization of the CAG repeat tract within transcript and the specific sequence context. Furthermore, we aimed to reveal the events leading to downregulation of mutant polyQ proteins and found very rapid activation of translational repression and HTT transcript deadenylation. Slicer-activity of AGO2 was dispensable in this process, as determined in AGO2 knockout cells generated with CRISPR-Cas9 technology. We also showed highly allele-selective downregulation of huntingtin in human HD neural progenitors (NPs). Taken together, art-miRNA activity may serve as a model of the cooperative activity and targeting of ORF regions by endogenous miRNAs.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32696070"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/32696070",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:32696070']' timed out after 3 seconds"
},
{
"id": "pmid:32668197",
@@ -109245,33 +105010,9 @@
},
{
"id": "pmid:29564144",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29564144",
- "title": "Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier.",
- "type": "article-journal",
- "doi": "10.1186/s40673-018-0086-x",
- "authors": [
- ["Paola", "Origone"],
- ["Fabio", "Gotta"],
- ["Merit", "Lamp"],
- ["Lucia", "Trevisan"],
- ["Alessandro", "Geroldi"],
- ["Davide", "Massucco"],
- ["Matteo", "Grazzini"],
- ["Federico", "Massa"],
- ["Flavia", "Ticconi"],
- ["Matteo", "Bauckneht"],
- ["Roberta", "Marchese"],
- ["Giovanni", "Abbruzzese"],
- ["Emilia", "Bellone"],
- ["Paola", "Mandich"]
- ],
- "publisher": "Cerebellum & ataxias",
- "issn": "2053-8871",
- "date": "2018-03-14",
- "abstract": "Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can mimic other movement disorders such as Huntington disease (HD), dystonia and parkinsonism. SCA17 is caused by an expansion of CAG/CAA repeat in the Tata binding protein (",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29564144"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/29564144",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:29564144']' timed out after 3 seconds"
},
{
"id": "pmid:29535594",
@@ -110549,6 +106290,24 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28339398"
},
+{
+ "id": "pmid:28270748",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/28270748",
+ "title": "Huntingtin Is Required for Neural But Not Cardiac/Pancreatic Progenitor Differentiation of Mouse Embryonic Stem Cells",
+ "type": "article-journal",
+ "doi": "10.3389/fncel.2017.00033",
+ "authors": [
+ ["Man Shan", "Yu"],
+ ["Naoko", "Tanese"]
+ ],
+ "publisher": "Frontiers in cellular neuroscience",
+ "issn": "1662-5102",
+ "date": "2017-02-21",
+ "abstract": "Mutation in the huntingtin (",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28270748"
+},
{
"id": "pmid:28266655",
"manubot_success": true,
@@ -111362,6 +107121,29 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27288455"
},
+{
+ "id": "pmid:27271685",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/27271685",
+ "title": "Folding Landscape of Mutant Huntingtin Exon1: Diffusible Multimers, Oligomers and Fibrils, and No Detectable Monomer.",
+ "type": "article-journal",
+ "doi": "10.1371/journal.pone.0155747",
+ "authors": [
+ ["Bankanidhi", "Sahoo"],
+ ["Irene", "Arduini"],
+ ["Kenneth W", "Drombosky"],
+ ["Ravindra", "Kodali"],
+ ["Laurie H", "Sanders"],
+ ["J Timothy", "Greenamyre"],
+ ["Ronald", "Wetzel"]
+ ],
+ "publisher": "PloS one",
+ "issn": "1932-6203",
+ "date": "2016-06-06",
+ "abstract": "Expansion of the polyglutamine (polyQ) track of the Huntingtin (HTT) protein above 36 is associated with a sharply enhanced risk of Huntington's disease (HD). Although there is general agreement that HTT toxicity resides primarily in N-terminal fragments such as the HTT exon1 protein, there is no consensus on the nature of the physical states of HTT exon1 that are induced by polyQ expansion, nor on which of these states might be responsible for toxicity. One hypothesis is that polyQ expansion induces an alternative, toxic conformation in the HTT exon1 monomer. Alternative hypotheses posit that the toxic species is one of several possible aggregated states. Defining the nature of the toxic species is particularly challenging because of facile interconversion between physical states as well as challenges to identifying these states, especially in vivo. Here we describe the use of fluorescence correlation spectroscopy (FCS) to characterize the detailed time and repeat length dependent self-association of HTT exon1-like fragments both with chemically synthesized peptides in vitro and with cell-produced proteins in extracts and in living cells. We find that, in vitro, mutant HTT exon1 peptides engage in polyQ repeat length dependent dimer and tetramer formation, followed by time dependent formation of diffusible spherical and fibrillar oligomers and finally by larger, sedimentable amyloid fibrils. For expanded polyQ HTT exon1 expressed in PC12 cells, monomers are absent, with tetramers being the smallest molecular form detected, followed in the incubation time course by small, diffusible aggregates at 6-9 hours and larger, sedimentable aggregates that begin to build up at 12 hrs. In these cell cultures, significant nuclear DNA damage appears by 6 hours, followed at later times by caspase 3 induction, mitochondrial dysfunction, and cell death. Our data thus defines limits on the sizes and concentrations of different physical states of HTT exon1 along the reaction profile in the context of emerging cellular distress. The data provide some new candidates for the toxic species and some new reservations about more well-established candidates. Compared to other known markers of HTT toxicity, nuclear DNA damage appears to be a relatively early pathological event.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27271685"
+},
{
"id": "pmid:27221610",
"manubot_success": true,
@@ -116937,6 +112719,30 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21370269"
},
+{
+ "id": "pmid:21347256",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/21347256",
+ "title": "Unusual structures are present in DNA fragments containing super-long Huntingtin CAG repeats.",
+ "type": "article-journal",
+ "doi": "10.1371/journal.pone.0017119",
+ "authors": [
+ ["Daniel", "Duzdevich"],
+ ["Jinliang", "Li"],
+ ["Jhoon", "Whang"],
+ ["Hirohide", "Takahashi"],
+ ["Kunio", "Takeyasu"],
+ ["David T F", "Dryden"],
+ ["A Jennifer", "Morton"],
+ ["J Michael", "Edwardson"]
+ ],
+ "publisher": "PloS one",
+ "issn": "1932-6203",
+ "date": "2011-02-11",
+ "abstract": "In the R6/2 mouse model of Huntington's disease (HD), expansion of the CAG trinucleotide repeat length beyond about 300 repeats induces a novel phenotype associated with a reduction in transcription of the transgene.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21347256"
+},
{
"id": "pmid:21334439",
"manubot_success": true,
@@ -117584,6 +113390,26 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20552561"
},
+{
+ "id": "pmid:20457230",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/20457230",
+ "title": "Longitudinal analysis of the behavioural phenotype in Hdh(CAG)150 Huntington's disease knock-in mice.",
+ "type": "article-journal",
+ "doi": "10.1016/j.brainresbull.2010.05.004",
+ "authors": [
+ ["Simon", "Brooks"],
+ ["Gemma", "Higgs"],
+ ["Lesley", "Jones"],
+ ["Stephen B", "Dunnett"]
+ ],
+ "publisher": "Brain research bulletin",
+ "issn": "1873-2747",
+ "date": "2010-05-08",
+ "abstract": "In people with Huntington's disease, an expanded CAG repeat sequence on the HTT gene confers a toxic gain function resulting in a progressive and fatal neurodegeneration. The Hdh((CAG)Q150) Huntington's disease mouse line is a knock-in model of the disease that carries \u223c150 CAG repeats on the normal mouse Htt locus. To determine that these mice are a useful model of the disease, they were assessed longitudinally for motor and cognitive deficits relevant to the human disease state. Each test was conducted bi-monthly across the lifespan of the animal. The results indicate that the Hdh(Q150/Q150) mice were impaired on each of the measures used, with deficits appearing on a 3-stage water maze test at 4 months of age and on prepulse inhibition at 6 months of age, both of which were prior to the manifestation of motor abnormalities. Grip strength, as measured by the inverted cage lid test, was reduced in the Hdh(Q150/Q150) mice from 10 months of age, when the male mice also exhibited weight loss relative to their wildtype littermates. On the accelerating rotarod, deficits in the carrier mice did not appear until they were 21 months old. Our results demonstrate that the Hdh((CAG)150) is a valid model of HD that displays early and progressive cognitive deficits that precede the onset of motor abnormalities.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20457230"
+},
{
"id": "pmid:20385209",
"manubot_success": true,
@@ -118737,22 +114563,9 @@
},
{
"id": "pmid:18640989",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/18640989",
- "title": "Compensatory changes in the ubiquitin-proteasome system, brain-derived neurotrophic factor and mitochondrial complex II/III in YAC72 and R6/2 transgenic mice partially model Huntington's disease patients.",
- "type": "article-journal",
- "doi": "10.1093/hmg/ddn211",
- "authors": [
- ["Hyemyung", "Seo"],
- ["Woori", "Kim"],
- ["Ole", "Isacson"]
- ],
- "publisher": "Human molecular genetics",
- "issn": "1460-2083",
- "date": "2008-07-17",
- "abstract": "Intraneuronal protein aggregates of the mutated huntingtin in Huntington's disease (HD) brains suggest an overload and/or dysfunction of the ubiquitin-proteasome system (UPS). There is a general inhibition of the UPS in many brain regions (cerebellum, cortex, substantia nigra and caudate-putamen) and skin fibroblasts from HD patients. In the current experiment, the widely used mutant huntingtin-exon 1 CAG repeat HD transgenic mice model (R6/2) (with 144 CAG repeat and exon 1) during late-stage pathology, had increases in proteasome activity in the striatum. However, this discrepancy with HD patient tissue was not apparent in the mutant CAG repeat huntingtin full-length HD (YAC72) transgenic mouse model during post-symptomatic and late-stage pathology, which then also showed UPS inhibition similar to HD patients' brains. In both types of HD model mice, we determined biochemical changes, including expression of brain-derived neurotrophic factor (BDNF) and mitochondrial complex II/III (MCII/III) activities related to HD pathology. We found increases of both BDNF expression, and MCII/III activities in YAC72 transgenic mice, and no change of BDNF expression in R6/2 mice. Our data show that extreme CAG repeat lengths in R6/2 mice is paradoxically associated with increased proteasome activity, probably as a cellular compensatory biochemical change in response to the underlying mutation. Changes in HD patients for UPS function, BDNF expression and MCII/III activity are only partially modeled in R6/2 and YAC72 mice, with the latter at 16 months of age being most congruent with the human disease.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:18640989"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/18640989",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:18640989']' timed out after 3 seconds"
},
{
"id": "pmid:18608348",
@@ -120439,30 +116252,9 @@
},
{
"id": "pmid:16987871",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/16987871",
- "title": "Cholinergic neuronal defect without cell loss in Huntington's disease.",
- "type": "article-journal",
- "doi": "10.1093/hmg/ddl252",
- "authors": [
- ["Ruben", "Smith"],
- ["Hinfan", "Chung"],
- ["Sara", "Rundquist"],
- ["Marion L C", "Maat-Schieman"],
- ["Lesley", "Colgan"],
- ["Elisabet", "Englund"],
- ["Yong-Jian", "Liu"],
- ["Raymund A C", "Roos"],
- ["Richard L M", "Faull"],
- ["Patrik", "Brundin"],
- ["Jia-Yi", "Li"]
- ],
- "publisher": "Human molecular genetics",
- "issn": "0964-6906",
- "date": "2006-09-20",
- "abstract": "Huntington's disease (HD) is a neurodegenerative disorder caused by a CAG-repeat expansion in the huntingtin (IT15) gene. The striatum is one of the regions most affected by neurodegeneration, resulting in the loss of the medium-sized spiny neurons. Traditionally, the large cholinergic striatal interneurons are believed to be spared. Recent studies demonstrate that neuronal dysfunction without cell death also plays an important role in early and mid-stages of the disease. Here, we report that cholinergic transmission is affected in a HD transgenic mouse model (R6/1) and in tissues from HD patients. Stereological analysis shows no loss of cholinergic neurons in the striatum or septum in R6/1 mice. In contrast, the levels of mRNA and protein for vesicular acetylcholine transporter (VAChT) and choline acetyltransferase (ChAT) are decreased in the striatum and cortex, and acetylcholine esterase activity is lowered in the striatum of R6/1 mice already at young ages. Accordingly, VAChT is also reduced in striatal tissue from patients with HD. The decrease of VAChT in the patient samples studied is restricted to the striatum and does not occur in the hippocampus or the spinal cord. The expression and localization of REST/NRSF, a transcriptional regulator for the VAChT and ChAT genes, are not altered in cholinergic neurons. We show that the R6/1 mice exhibit severe deficits in learning and reference memory. Taken together, our data show that the cholinergic system is dysfunctional in R6/1 and HD patients. Consequently, they provide a rationale for testing of pro-cholinergic drugs in this disease.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16987871"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/16987871",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:16987871']' timed out after 3 seconds"
},
{
"id": "pmid:16981596",
@@ -123397,25 +119189,9 @@
},
{
"id": "pmid:11520890",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/11520890",
- "title": "Partial resistance to malonate-induced striatal cell death in transgenic mouse models of Huntington's disease is dependent on age and CAG repeat length.",
- "type": "article-journal",
- "doi": "10.1046/j.1471-4159.2001.00482.x",
- "authors": [
- ["O", "Hansson"],
- ["R F", "Castilho"],
- ["L", "Korhonen"],
- ["D", "Lindholm"],
- ["G P", "Bates"],
- ["P", "Brundin"]
- ],
- "publisher": "Journal of neurochemistry",
- "issn": "0022-3042",
- "date": "2001-08-01",
- "abstract": "Transgenic Huntington's disease (HD) mice, expressing exon 1 of the HD gene with an expanded CAG repeat, are totally resistant to striatal lesion induced by excessive NMDA receptor activation. We now show that striatal lesions induced by the mitochondrial toxin malonate are reduced by 70-80% in transgenic HD mice compared with wild-type littermate controls. This occurred in 6- and 12-week-old HD mice with 150 CAG repeats (line R6/2) and in 18-week-old, but not 6-week-old, HD mice with 115 CAG repeats (line R6/1). Therefore, we show for the first time that the resistance to neurotoxin in transgenic HD mice is dependent on both the CAG repeat length and the age of the mice. Importantly, most HD patients develop symptoms in adulthood and exhibit an inverse relationship between CAG repeat length and age of onset. Transgenic mice expressing a normal CAG repeat (18 CAG) were not resistant to malonate. Although endogenous glutamate release has been implicated in malonate-induced cell death, glutamate release from striatal synaptosomes was not decreased in HD mice. Malonate-induced striatal cell death was reduced by 50-60% in wild-type mice when they were treated with either the NMDA receptor antagonist MK-801 or the caspase inhibitor zVAD-fmk. These two compounds did not reduce lesion size in transgenic R6/1 mice. This might suggest that NMDA receptor- and caspase-mediated cell death pathways are inhibited and that the limited malonate-induced cell death still occurring in HD mice is independent of these pathways. There were no changes in striatal levels of the two anti cell death proteins Bcl-X(L) and X-linked inhibitor of apoptosis protein (XIAP), before or after the lesion in transgenic HD mice. We propose that mutant huntingtin causes a sublethal grade of metabolic stress which is CAG repeat length-dependent and results in up-regulation over time of cellular defense mechanisms against impaired energy metabolism and excitotoxicity.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11520890"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/11520890",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:11520890']' timed out after 3 seconds"
},
{
"id": "pmid:11494364",
@@ -124140,6 +119916,33 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10677504"
},
+{
+ "id": "pmid:10666223",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/10666223",
+ "title": "Hodgkin and reed-sternberg cells represent an expansion of a single clone originating from a germinal center B-cell with functional immunoglobulin gene rearrangements but defective immunoglobulin transcription.",
+ "type": "article-journal",
+ "doi": "",
+ "authors": [
+ ["T", "Marafioti"],
+ ["M", "Hummel"],
+ ["H D", "Foss"],
+ ["H", "Laumen"],
+ ["P", "Korbjuhn"],
+ ["I", "Anagnostopoulos"],
+ ["H", "Lammert"],
+ ["G", "Demel"],
+ ["J", "Theil"],
+ ["T", "Wirth"],
+ ["H", "Stein"]
+ ],
+ "publisher": "Blood",
+ "issn": "0006-4971",
+ "date": "2000-02-15",
+ "abstract": "Single cell studies aimed at clarifying the nature and clonality of Hodgkin and Reed-Sternberg (HRS) cells of classical Hodgkin's disease (HD) have so far produced conflicting results. Using an improved single cell procedure, the HRS cells of 25 patients with nodular sclerosing HD lacking B- and T-cell antigens, with and without Epstein-Barr virus infection, were analyzed for the presence of immunoglobulin (Ig) gene rearrangements. One patient with HD developed follicular lymphoma 2 years later. Both lymphomas originated from a common precursor identified as a germinal center B cell. The data show that all but one of the investigated cases harbored rearranged Ig genes, which were clonal in all instances and carried a high load of somatic mutations. The Ig coding capacity was preserved in 18 of the 24 cases (75%) with rearrangements. However, expression of Ig messenger RNA was not detectable in the HRS cells with the exception of Ig kappa light chain expression in some tumor cells of 1 case. The lack of Ig gene transcription in HRS cells was confirmed by analyzing the HD cell lines L428 and KM-H2 in transient transfection experiments. An Ig promoter/enhancer reporter construct showed virtually no activity in these cells compared to 5 control B-cell lines. We conclude that (1) classical HD is a B-cell lymphoma in most instances, (2) HRS cells are clonal without any exception, (3) they are derived from germinal center B-cells that (4) mostly lack crippling mutations but (5) have consistently lost their Ig gene transcription ability, due to functional defects in the Ig gene regulatory elements. (Blood. 2000;95:1443-1450)",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10666223"
+},
{
"id": "pmid:10631644",
"manubot_success": true,
@@ -124943,6 +120746,25 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9887339"
},
+{
+ "id": "pmid:9818876",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/9818876",
+ "title": "Larger CAG expansions in skeletal muscle compared with lymphocytes in Kennedy disease but not in Huntington disease.",
+ "type": "article-journal",
+ "doi": "10.1212/wnl.51.5.1442",
+ "authors": [
+ ["T", "Ansved"],
+ ["A", "Lundin"],
+ ["M", "Anvret"]
+ ],
+ "publisher": "Neurology",
+ "issn": "0028-3878",
+ "date": "1998-11-01",
+ "abstract": "The size of CAG repeats was compared in lymphocytes and skeletal muscle from nine patients with Huntington disease (HD) and two patients with Kennedy disease (KD). In HD, the number of CAG repeats did not differ between lymphocytes and skeletal muscle. In the two KD patients, however, the CAG expansion was larger in muscle than in lymphocytes. The difference in trinucleotide expansion between lymphocytes and muscle cells is not a universal phenomenon in trinucleotide repeat disorders, but seems to occur in disorders primarily affecting the neuromuscular system.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9818876"
+},
{
"id": "pmid:9806905",
"manubot_success": true,
@@ -125884,6 +121706,25 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8912795"
},
+{
+ "id": "pmid:8751857",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/8751857",
+ "title": "CAG trinucleotide RNA repeats interact with RNA-binding proteins.",
+ "type": "article-journal",
+ "doi": "",
+ "authors": [
+ ["B A", "McLaughlin"],
+ ["C", "Spencer"],
+ ["J", "Eberwine"]
+ ],
+ "publisher": "American journal of human genetics",
+ "issn": "0002-9297",
+ "date": "1996-09-01",
+ "abstract": "Genes associated with several neurological diseases are characterized by the presence of an abnormally long trinucleotide repeat sequence. By way of example, Huntington's disease (HD), is characterized by selective neuronal degeneration associated with the expansion of a polyglutamine-encoding CAG tract. Normally, this CAG tract is comprised of 11-34 repeats, but in HD it is expanded to > 37 repeats in affected individuals. The mechanism by which CAG repeats cause neuronal degeneration is unknown, but it has been speculated that the expansion primarily causes abnormal protein functioning, which in turn causes HD pathology. Other mechanisms, however, have not been ruled out. Interactions between RNA and RNA-binding proteins have previously been shown to play a role in the expression of several eukaryotic genes. Herein, we report the association of cytoplasmic proteins with normal length and extended CAG repeats, using gel shift and UV crosslinking assays. Cytoplasmic protein extracts from several rat brain regions, including the striatum and cortex, sites of neuronal degeneration in HD, contain a 63-kD RNA-binding protein that specifically interacts with these CAG-repeat sequences. These protein-RNA interactions are dependent on the length of the CAG repeat, with longer repeats binding substantially more protein. Two CAG repeat-binding proteins are present in human cortex and striatum; one comigrates with the rat protein at 63 kD, while the other migrates at 49 kD. These data suggest mechanisms by which RNA-binding proteins may be involved in the pathological course of trinucleotide repeat-associated neurological diseases.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8751857"
+},
{
"id": "pmid:8659522",
"manubot_success": true,
@@ -127607,37 +123448,9 @@
},
{
"id": "pmid:33040085",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33040085",
- "title": "DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.",
- "type": "article-journal",
- "doi": "10.1038/s10038-020-00855-0",
- "authors": [
- ["Akane", "Terasaki"],
- ["Masayuki", "Nakamura"],
- ["Yuka", "Urata"],
- ["Hanae", "Hiwatashi"],
- ["Izumi", "Yokoyama"],
- ["Takeshi", "Yasuda"],
- ["Teiichi", "Onuma"],
- ["Kazumaru", "Wada"],
- ["Sunao", "Kaneko"],
- ["Rumiko", "Kan"],
- ["Shin-Ichi", "Niwa"],
- ["Ohiko", "Hashimoto"],
- ["Osamu", "Komure"],
- ["Yu-Ichi", "Goto"],
- ["Yuko", "Yamagishi"],
- ["Misa", "Nakano"],
- ["Yoshihiko", "Furusawa"],
- ["Akira", "Sano"]
- ],
- "publisher": "Journal of human genetics",
- "issn": "1435-232X",
- "date": "2020-10-10",
- "abstract": "Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disease characterized by adult-onset tremulous hand movement, myoclonus, and infrequent epileptic seizures. Recently, intronic expansion of unstable TTTCA/TTTTA pentanucleotide repeats in SAMD12, TNRC6A, or RAPGEF2 was identified as pathological mutations in Japanese BAFME pedigrees. To confirm these mutations, we performed a genetic analysis on 12 Japanese BAFME pedigrees. A total of 143 participants, including 43 familial patients, 5 suspected patients, 3 sporadic nonfamilial patients, 22 unaffected familial members, and 70 unrelated controls, were screened for expanded abnormal pentanucleotide repeats in SAMD12, TNRC6A, RAPGEF2, YEAT2, MARCH6, and STARD7. DNA samples were analyzed using Southern blotting, long-range polymerase chain reaction (PCR), repeat-primed PCR, and long-range PCR followed by Southern blotting. Of the 51 individuals with clinically diagnosed or suspected BAFME, 49 carried a SAMD12 allele with an expanded TTTCA/TTTTA pentanucleotide repeat. Genetic and clinical anticipation was observed. As in previous reports, the one patient with homozygous mutant alleles showed more severe symptoms than the heterozygous carriers. In addition, screening for expanded pentanucleotide repeats in TNRC6A revealed that the frequency of expanded TTTTA repeat alleles in the BAFME group was significantly higher than in the control group. All patients who were clinically diagnosed with BAFME, including those in the original family reported by Yasuda, carried abnormally expanded TTTCA/TTTTA repeat alleles of SAMD12. Patients with BAFME also frequently carried a TTTTA repeat expansion in TNRC6A, suggesting that there may be unknown factors in the ancestry of patients with BAFME that make pentanucleotide repeats unstable.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33040085"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/33040085",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:33040085']' timed out after 3 seconds"
},
{
"id": "pmid:39576755",
@@ -127704,6 +123517,30 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38605207"
},
+{
+ "id": "pmid:37547453",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/37547453",
+ "title": "Structural and molecular insight into antibody recognition of dynamic neoepitopes in membrane tethered MUC1 of pancreatic cancer cells and secreted exosomes.",
+ "type": "article-journal",
+ "doi": "10.1039/d3cb00036b",
+ "authors": [
+ ["Hajime", "Wakui"],
+ ["Yasuhiro", "Yokoi"],
+ ["Chieko", "Horidome"],
+ ["Toyoyuki", "Ose"],
+ ["Min", "Yao"],
+ ["Yoshikazu", "Tanaka"],
+ ["Hiroshi", "Hinou"],
+ ["Shin-Ichiro", "Nishimura"]
+ ],
+ "publisher": "RSC chemical biology",
+ "issn": "2633-0679",
+ "date": "2023-05-24",
+ "abstract": "Pancreatic cancer is highly metastatic and has poor prognosis, mainly due to delayed detection, often after metastasis has occurred. A novel method to enable early detection and disease intervention is strongly needed. Here we unveil for the first time that pancreatic cancer cells (PANC-1) and secreted exosomes express MUC1 bearing cancer-relevant dynamic epitopes recognized specifically by an anti-MUC1 antibody (SN-131), which binds specifically core 1 but not core 2 type",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37547453"
+},
{
"id": "pmid:37456840",
"manubot_success": true,
@@ -128389,6 +124226,37 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26693201"
},
+{
+ "id": "pmid:26692014",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/26692014",
+ "title": "Molecular basis of antibody binding to mucin glycopeptides in lung cancer.",
+ "type": "article-journal",
+ "doi": "10.3892/ijo.2015.3302",
+ "authors": [
+ ["Jin", "Qu"],
+ ["Hongtao", "Yu"],
+ ["Fenge", "Li"],
+ ["Chunlei", "Zhang"],
+ ["Ahmad", "Trad"],
+ ["Cory", "Brooks"],
+ ["Bin", "Zhang"],
+ ["Ting", "Gong"],
+ ["Zhi", "Guo"],
+ ["Yunsen", "Li"],
+ ["Govind", "Ragupathi"],
+ ["Yanyan", "Lou"],
+ ["Patrick", "Hwu"],
+ ["Wei", "Huang"],
+ ["Dapeng", "Zhou"]
+ ],
+ "publisher": "International journal of oncology",
+ "issn": "1791-2423",
+ "date": "2015-12-18",
+ "abstract": "Glycopeptides bearing Tn epitopes are emerging targets for cancer diagnosis and immunotherapy. In this study, we analyzed membrane proteins containing O-glycosylated tandem repeat (TR) sequences in lung cancer patients of different types and stages, using gene microarray data in public domain. The expression of Tn and glycopeptide epitopes on the surface of lung cancer cell lines were studied by monoclonal IgG antibodies 14A, 16A, and B72.3. The binding of mAbs to synthetic glycopeptides were studied by surface plasmon resonance. Nine mucin mRNAs were found to be expressed in lung cancer patients but at similar level to healthy individuals. At protein level, a glycopeptide epitope on cancer cell surface is preferably recognized by mAb 16A, as compared to peptide-alone (14A) or sugar-alone epitopes (B72.3). 14A and 16A favor clustered TR containing more than three TR sequences, with 10-fold lower Kd than two consecutive TR. B72.3 preferrably recognized clustered sialyl-Tn displayed on MUC1 but not other O-glycoproteins, with 100-fold stronger binding when MUC1 is transfected as a sugar carrier, while the total sugar epitopes remain unchanged. These findings indicate that clusters of both TR backbones and sugars are essential for mAb binding to mucin glycopeptides. Three rules of antibody binding to mucin glycopeptides at molecular level are presented here: first, the peptide backbone of a glycopeptide is preferentially recognized by B cells through mutations in complementarity determining regions (CDRs) of B cell receptor, and the sugar-binding specificity is acquired through mutations in frame work of heavy chain; secondly, consecutive tandem repeats (TR) of peptides and glycopeptides are preferentially recognized by B cells, which favor clustered TR containing more than three TR sequences; thirdly, certain sugar-specific B cells recognize and accommodate clustered Tn and sialyl-Tn displayed on the surface of a mucin but not other membrane proteins.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26692014"
+},
{
"id": "pmid:26498650",
"manubot_success": true,
@@ -130271,25 +126139,9 @@
},
{
"id": "pmid:8567787",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/8567787",
- "title": "MUC1 in secretory phase endometrium: expression in precisely dated biopsies and flushings from normal and recurrent miscarriage patients.",
- "type": "article-journal",
- "doi": "10.1093/oxfordjournals.humrep.a135762",
- "authors": [
- ["N A", "Hey"],
- ["T C", "Li"],
- ["P L", "Devine"],
- ["R A", "Graham"],
- ["H", "Saravelos"],
- ["J D", "Aplin"]
- ],
- "publisher": "Human reproduction (Oxford, England)",
- "issn": "0268-1161",
- "date": "1995-10-01",
- "abstract": "MUC1 is a cell-surface and secretory product of endometrial epithelium. Immunohistochemical studies carried out using two different antibodies to the mucin-type tandem repeat region of MUC1 indicate a cell-surface location in proliferative phase glands, with intracellular deposits accumulating in the early secretory phase. Commencing 3-4 days after the luteinizing hormone (LH) peak and continuing into the late secretory phase, secretory MUC1 appears in gland lumens. Uterine flushings were collected as a function of time after the LH peak and were analysed using a two-site enzyme-linked immunosorbent assay for MUC1. Low but measurable concentrations were observed up to day 7, while on days 7-13 much higher values were obtained. In women suffering from recurrent spontaneous miscarriage, the concentration of MUC1 in flushings was significantly lower than in the controls on day LH + 10. Lower values were observed on days 7 and 13. Reduced epithelial secretory function and a resultant change in uterine fluid composition are features of endometrium from recurrent miscarriage patients.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8567787"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/8567787",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:8567787']' timed out after 3 seconds"
},
{
"id": "pmid:8519447",
@@ -131990,6 +127842,34 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36086903"
},
+{
+ "id": "pmid:36061987",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/36061987",
+ "title": "Multi-type",
+ "type": "article-journal",
+ "doi": "10.3389/fneur.2022.986504",
+ "authors": [
+ ["Jun-Hui", "Yuan"],
+ ["Yujiro", "Higuchi"],
+ ["Masahiro", "Ando"],
+ ["Eiji", "Matsuura"],
+ ["Akihiro", "Hashiguchi"],
+ ["Akiko", "Yoshimura"],
+ ["Tomonori", "Nakamura"],
+ ["Yusuke", "Sakiyama"],
+ ["Jun", "Mitsui"],
+ ["Hiroyuki", "Ishiura"],
+ ["Shoji", "Tsuji"],
+ ["Hiroshi", "Takashima"]
+ ],
+ "publisher": "Frontiers in neurology",
+ "issn": "1664-2295",
+ "date": "2022-08-17",
+ "abstract": "Non-coding repeat expansions within",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36061987"
+},
{
"id": "pmid:36041634",
"manubot_success": true,
@@ -135954,38 +131834,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25767537"
},
-{
- "id": "pmid:25420100",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/25420100",
- "title": "Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.",
- "type": "article-journal",
- "doi": "10.1001/jamaneurol.2014.1753",
- "authors": [
- ["Gr\u00e1inne S", "Gorman"],
- ["Gerald", "Pfeffer"],
- ["Helen", "Griffin"],
- ["Emma L", "Blakely"],
- ["Marzena", "Kurzawa-Akanbi"],
- ["Jessica", "Gabriel"],
- ["Kamil", "Sitarz"],
- ["Mark", "Roberts"],
- ["Benedikt", "Schoser"],
- ["Angela", "Pyle"],
- ["Andrew M", "Schaefer"],
- ["Robert", "McFarland"],
- ["Douglass M", "Turnbull"],
- ["Rita", "Horvath"],
- ["Patrick F", "Chinnery"],
- ["Robert W", "Taylor"]
- ],
- "publisher": "JAMA neurology",
- "issn": "2168-6157",
- "date": "2015-01-01",
- "abstract": "Progressive external ophthalmoplegia (PEO) is a common feature in adults with mitochondrial (mt) DNA maintenance disorders associated with somatic mtDNA deletions in muscle, yet the causal genetic defect in many patients remains undetermined.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25420100"
-},
{
"id": "pmid:24491464",
"manubot_success": true,
@@ -136043,29 +131891,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23493802"
},
-{
- "id": "pmid:22787193",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/22787193",
- "title": "Detection of antibodies against Orientia tsutsugamushi Sca proteins in scrub typhus patients and genetic variation of sca genes of different strains.",
- "type": "article-journal",
- "doi": "10.1128/cvi.00285-12",
- "authors": [
- ["Na-Young", "Ha"],
- ["Yuri", "Kim"],
- ["Ji-Hye", "Choi"],
- ["Myung-Sik", "Choi"],
- ["Ik-Sang", "Kim"],
- ["Yeon-Sook", "Kim"],
- ["Nam-Hyuk", "Cho"]
- ],
- "publisher": "Clinical and vaccine immunology : CVI",
- "issn": "1556-679X",
- "date": "2012-07-11",
- "abstract": "Scrub typhus, caused by Orientia tsutsugamushi infection, is one of the main causes of acute febrile illness in the Asian-Pacific region. Although early diagnosis and immediate antibiotic treatment are critical for reducing disease severity and mortality, current diagnostic methods using serological and molecular approaches have some limitations in sensitivity and applicability in clinical laboratories. In this study, we identified and characterized O. tsutsugamushi surface cell antigen (sca) family genes encoding autotransporter proteins in order to test them as novel diagnostic targets. We evaluated antibody responses against the Sca proteins in scrub typhus patient sera and examined the genetic diversity of these genes in different strains after PCR amplification. Specific antibody responses against ScaA and ScaC were observed in patients with high indirect immunofluorescence assay titers (\u22651:640), whereas specific responses against ScaB and ScaE were relatively low. Genetic analysis using genomic DNAs revealed the sca genes to be quite variable among the different strains. In contrast to scaA, scaC, and scaD, which were detected in all of the tested strains, scaB and scaE were amplified differentially from the different strains, suggesting a differential presence of the genes in the genomes. Among the members of the gene family, the sequence of scaC is the most highly conserved between the different strains, and the size of scaD is the most variable due to the presence of different numbers of internal repeat sequences. These results suggest that the sca genes of O. tsutsugamushi may be valuable targets for use in combination with classical assay methods for scrub typhus diagnosis.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22787193"
-},
{
"id": "pmid:20803511",
"manubot_success": true,
@@ -136123,31 +131948,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12036482"
},
-{
- "id": "pmid:2308845",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/2308845",
- "title": "Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.",
- "type": "article-journal",
- "doi": "10.1093/nar/18.3.561",
- "authors": [
- ["S", "Mita"],
- ["R", "Rizzuto"],
- ["C T", "Moraes"],
- ["S", "Shanske"],
- ["E", "Arnaudo"],
- ["G M", "Fabrizi"],
- ["Y", "Koga"],
- ["S", "DiMauro"],
- ["E A", "Schon"]
- ],
- "publisher": "Nucleic acids research",
- "issn": "0305-1048",
- "date": "1990-02-11",
- "abstract": "Large-scale deletions of mitochondrial DNA (mtDNA) have been described in patients with progressive external ophthalmoplegia (PEO) and ragged red fibers. We have determined the exact deletion breakpoint in 28 cases with PEO, including 12 patients already shown to harbor an identical deletion; the other patients had 16 different deletions. The deletions fell into two classes. In Class I (9 deletions; 71% of the patients), the deletion was flanked by perfect direct repeats, located (in normal mtDNA) at the edges of the deletion. In Class II (8 deletions; 29% of patients), the deletions were not flanked by any obviously unique repeat element, or they were flanked by repeat elements which were located imprecisely relative to the breakpoints. Computer analysis showed a correlation between the location of the deletion breakpoints and sequences in human mtDNA similar to the target sequence for Drosophila topoisomerase II. It is not known how these deletions originate, but both slipped mispairing and legitimate recombination could be mechanisms playing a major role in the generation of the large mtDNA deletions found in PEO.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:2308845"
-},
{
"id": "pmid:39565297",
"manubot_success": true,
@@ -136533,47 +132333,6 @@
"link": "https://pubmed.ncbi.nlm.nih.gov/",
"note": "WARNING: Couldn't parse Manubot response: list index out of range"
},
-{
- "id": "pmid:38048047",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38048047",
- "title": "DNA Aptamer Binding Octapeptide Repeat Region of Cellular Prion Protein.",
- "type": "article-journal",
- "doi": "10.1021/acs.analchem.3c04557",
- "authors": [
- ["Jing", "Sheng"],
- ["Nan", "Zhang"],
- ["Zhenhao", "Long"],
- ["Xiangru", "Zhang"],
- ["Shuang", "Zu"],
- ["Xiangjun", "Liu"],
- ["Dihua", "Shangguan"]
- ],
- "publisher": "Analytical chemistry",
- "issn": "1520-6882",
- "date": "2023-12-04",
- "abstract": "Cellular prion protein (PrP",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38048047"
-},
-{
- "id": "pmid:37153755",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37153755",
- "title": "The manifold role of octapeptide repeats in prion protein assembly.",
- "type": "article-journal",
- "doi": "10.1002/pep2.24303",
- "authors": [
- ["Amy H", "Guadagno"],
- ["Scott H", "Medina"]
- ],
- "publisher": "Peptide science (Hoboken, N.J.)",
- "issn": "2475-8817",
- "date": "2023-01-30",
- "abstract": "Prion protein misfolding is associated with fatal neurodegenerative disorders such as kuru, Creutzfeldt-Jakob disease, and several animal encephalopathies. While the C-terminal 106-126 peptide has been well studied for its role in prion replication and toxicity, the octapeptide repeat (OPR) sequence found within the N-terminal domain has been relatively under explored. Recent findings that the OPR has both local and long-range effects on prion protein folding and assembly, as well as its ability to bind and regulate transition metal homeostasis, highlights the important role this understudied region may have in prion pathologies. This review attempts to collate this knowledge to advance a deeper understanding on the varied physiologic and pathologic roles the prion OPR plays, and connect these findings to potential therapeutic modalities focused on OPR-metal binding. Continued study of the OPR will not only elucidate a more complete mechanistic model of prion pathology, but may enhance knowledge on other neurodegenerative processes underlying Alzheimer's, Parkinson's, and Huntington's diseases.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37153755"
-},
{
"id": "pmid:35903139",
"manubot_success": true,
@@ -136616,47 +132375,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35585119"
},
-{
- "id": "pmid:33720140",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33720140",
- "title": "Production of Autologous Platelet-Rich Plasma for Boosting In Vitro Human Fibroblast Expansion.",
- "type": "article-journal",
- "doi": "10.3791/60816",
- "authors": [
- ["Sarah", "Berndt"],
- ["Antoine", "Turzi"],
- ["Ali", "Modarressi"]
- ],
- "publisher": "Journal of visualized experiments : JoVE",
- "issn": "1940-087X",
- "date": "2021-02-24",
- "abstract": "There is currently great clinical interest in the use of autologous fibroblasts for skin repair. In most cases, culture of skin cells in vitro is required. However, cell culture using xenogenic or allogenic culture media has some disadvantages (i.e., risk of infectious agent transmission or slow cell expansion). Here, an autologous culture system is developed for the expansion of human skin fibroblast cells in vitro using a patient's own platelet-rich plasma (PRP). Human dermal fibroblasts are isolated from the patient while undergoing abdominoplasty. Cultures are followed for up to 7 days using a medium supplemented with either fetal bovine serum (FBS) or PRP. Blood cell content in PRP preparations, proliferation, and fibroblast differentiation are assessed. This protocol describes the method for obtaining a standardized, non-activated preparation of PRP using a dedicated medical device. The preparation requires only a medical device (CuteCell-PRP) and centrifuge. This device is suitable under sufficient medical practice conditions and is a one-step, apyrogenic, and sterile closed system that requires a single, soft spin centrifugation of 1,500 x g for 5 min. After centrifugation, the blood components are separated, and the platelet-rich plasma is easily collected. This device allows a quick, consistent, and standardized preparation of PRP that can be used as a cell culture supplement for in vitro expansion of human cells. The PRP obtained here contains a 1.5-fold platelet concentration compared to whole blood together, with a preferential removal of red and white blood cells. It is shown that PRP presents a boosting effect in cell proliferation compared to FBS (7.7x) and that fibroblasts are activated upon PRP treatment.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33720140"
-},
-{
- "id": "pmid:33670336",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33670336",
- "title": "The Effect of Octapeptide Repeats on Prion Folding and Misfolding.",
- "type": "article-journal",
- "doi": "10.3390/ijms22041800",
- "authors": [
- ["Kun-Hua", "Yu"],
- ["Mei-Yu", "Huang"],
- ["Yi-Ru", "Lee"],
- ["Yu-Kie", "Lin"],
- ["Hau-Ren", "Chen"],
- ["Cheng-I", "Lee"]
- ],
- "publisher": "International journal of molecular sciences",
- "issn": "1422-0067",
- "date": "2021-02-11",
- "abstract": "Misfolding of prion protein (PrP) into amyloid aggregates is the central feature of prion diseases. PrP has an amyloidogenic C-terminal domain with three \u03b1-helices and a flexible tail in the N-terminal domain in which multiple octapeptide repeats are present in most mammals. The role of the octapeptides in prion diseases has previously been underestimated because the octapeptides are not located in the amyloidogenic domain. Correlation between the number of octapeptide repeats and age of onset suggests the critical role of octapeptide repeats in prion diseases. In this study, we have investigated four PrP variants without any octapeptides and with 1, 5 and 8 octapeptide repeats. From the comparison of the protein structure and the thermal stability of these proteins, as well as the characterization of amyloids converted from these PrP variants, we found that octapeptide repeats affect both folding and misfolding of PrP creating amyloid fibrils with distinct structures. Deletion of octapeptides forms fewer twisted fibrils and weakens the cytotoxicity. Insertion of octapeptides enhances the formation of typical silk-like fibrils but it does not increase the cytotoxicity. There might be some threshold effect and increasing the number of peptides beyond a certain limit has no further effect on the cell viability, though the reasons are unclear at this stage. Overall, the results of this study elucidate the molecular mechanism of octapeptides at the onset of prion diseases.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33670336"
-},
{
"id": "pmid:31795947",
"manubot_success": true,
@@ -136676,65 +132394,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31795947"
},
-{
- "id": "pmid:31508569",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/31508569",
- "title": "Effects of autologous platelet-rich plasma on endometrial expansion in patients undergoing frozen-thawed embryo transfer: A double-blind RCT.",
- "type": "article-journal",
- "doi": "10.18502/ijrm.v17i6.4816",
- "authors": [
- ["Leila", "Nazari"],
- ["Saghar", "Salehpour"],
- ["Sedighe", "Hoseini"],
- ["Shahrzad", "Zadehmodarres"],
- ["Eznoallah", "Azargashb"]
- ],
- "publisher": "International journal of reproductive biomedicine",
- "issn": "2476-4108",
- "date": "2019-07-29",
- "abstract": "Adequate endometrial growth is principal for implantation and pregnancy. Thin endometrium is associated with lower pregnancy rate in assisted reproductive technology. Some frozen-thawed embryo transfer cycles are cancelled due to inadequate endometrial growth.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31508569"
-},
-{
- "id": "pmid:30920874",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30920874",
- "title": "Efficacy of injectable platelet-rich plasma in reducing alveolar bone resorption following rapid maxillary expansion:",
- "type": "article-journal",
- "doi": "10.2319/091018-661.1",
- "authors": [
- ["Eyad B", "Alomari"],
- ["Kinda", "Sultan"]
- ],
- "publisher": "The Angle orthodontist",
- "issn": "1945-7103",
- "date": "2019-03-28",
- "abstract": "To evaluate the effectiveness of platelet-rich plasma (PRP) with its growth factors in minimizing the side effects of rapid maxillary expansion (RME) on the periodontal tissue of anchoring teeth using cone-beam computed tomography (CBCT).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30920874"
-},
-{
- "id": "pmid:30896295",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30896295",
- "title": "Autologous Platelet-Rich Plasma (CuteCell PRP) Safely Boosts",
- "type": "article-journal",
- "doi": "10.1089/ten.tea.2018.0335",
- "authors": [
- ["Sarah", "Berndt"],
- ["Antoine", "Turzi"],
- ["Brigitte", "Pittet-Cu\u00e9nod"],
- ["Ali", "Modarressi"]
- ],
- "publisher": "Tissue engineering. Part A",
- "issn": "1937-335X",
- "date": "2019-05-21",
- "abstract": "Nowadays autologous fibroblast application for skin repair presents an important clinical interest. In most cases",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30896295"
-},
{
"id": "pmid:29966485",
"manubot_success": true,
@@ -136754,70 +132413,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29966485"
},
-{
- "id": "pmid:27216879",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27216879",
- "title": "Eviscerated Corneas as Tissue Source for Ex Vivo Expansion of Limbal Epithelial Cells on Platelet-Rich Plasma Gels.",
- "type": "article-journal",
- "doi": "10.3109/02713683.2016.1141962",
- "authors": [
- ["Leonard G", "Heydenrych"],
- ["Donald F", "du Toit"],
- ["Colleen M", "Aldous"]
- ],
- "publisher": "Current eye research",
- "issn": "1460-2202",
- "date": "2016-05-23",
- "abstract": "Purpose/Aim of the study: To assess if corneal epithelium can be cultured ex vivo from corneas eviscerated due to irretrievable trauma, according to a cell culture method that made use of autologous platelet-rich plasma (A-PRP) as culture substrate. To compare corneal epithelium cultured ex vivo from corneas eviscerated following trauma using A-PRP combined with Dulbecco's modified Eagles medium (DMEM), versus DMEM alone.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27216879"
-},
-{
- "id": "pmid:22995398",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/22995398",
- "title": "Effect of divalent metals on the neuronal proteasomal system, prion protein ubiquitination and aggregation.",
- "type": "article-journal",
- "doi": "10.1016/j.toxlet.2012.09.008",
- "authors": [
- ["A G", "Kanthasamy"],
- ["C", "Choi"],
- ["H", "Jin"],
- ["D S", "Harischandra"],
- ["V", "Anantharam"],
- ["A", "Kanthasamy"]
- ],
- "publisher": "Toxicology letters",
- "issn": "1879-3169",
- "date": "2012-09-17",
- "abstract": "The role of normal cellular prion protein (PrP) remains to be fully elucidated; however, the protein is crucial for the infection and progression of prion diseases. Recent evidence indicates that PrP is a metalloprotein since the octapeptide repeat sequences in the protein have high affinity for various divalent cations and the binding sites appear to play a role in the pathogenesis of prion diseases. In our present study, we tested several divalent metals including manganese and cadmium and determined their effects on protein degradation and protein aggregation in mouse neuronal cells expressing PrP. Cadmium was more neurotoxic than manganese following 24h exposure. Manganese did not show any significant effect on the inhibition of proteasomal activity or formation of high molecular weight ubiquitinated PrPs. Interestingly, treatment with cadmium profoundly inhibited proteasomal activity, which resulted in greatly increased formation of high molecular weight ubiquitinated PrPs. Immunohistochemical analysis also revealed a dramatic increase in formation of oligomers after cadmium treatment. Cadmium also increased the formation of ubiquitinated PrP, but it did not lead to the formation of proteinase-K resistant PrP. Collectively, our results show that a divalent metal, cadmium affects proteasomal function and PrP aggregation, which promote neurotoxicity.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22995398"
-},
-{
- "id": "pmid:19381258",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/19381258",
- "title": "Early onset prion disease from octarepeat expansion correlates with copper binding properties.",
- "type": "article-journal",
- "doi": "10.1371/journal.ppat.1000390",
- "authors": [
- ["Daniel J", "Stevens"],
- ["Eric D", "Walter"],
- ["Abel", "Rodr\u00edguez"],
- ["David", "Draper"],
- ["Paul", "Davies"],
- ["David R", "Brown"],
- ["Glenn L", "Millhauser"]
- ],
- "publisher": "PLoS pathogens",
- "issn": "1553-7374",
- "date": "2009-04-17",
- "abstract": "Insertional mutations leading to expansion of the octarepeat domain of the prion protein (PrP) are directly linked to prion disease. While normal PrP has four PHGGGWGQ octapeptide segments in its flexible N-terminal domain, expanded forms may have up to nine additional octapeptide inserts. The type of prion disease segregates with the degree of expansion. With up to four extra octarepeats, the average onset age is above 60 years, whereas five to nine extra octarepeats results in an average onset age between 30 and 40 years, a difference of almost three decades. In wild-type PrP, the octarepeat domain takes up copper (Cu(2+)) and is considered essential for in vivo function. Work from our lab demonstrates that the copper coordination mode depends on the precise ratio of Cu(2+) to protein. At low Cu(2+) levels, coordination involves histidine side chains from adjacent octarepeats, whereas at high levels each repeat takes up a single copper ion through interactions with the histidine side chain and neighboring backbone amides. Here we use both octarepeat constructs and recombinant PrP to examine how copper coordination modes are influenced by octarepeat expansion. We find that there is little change in affinity or coordination mode populations for octarepeat domains with up to seven segments (three inserts). However, domains with eight or nine total repeats (four or five inserts) become energetically arrested in the multi-histidine coordination mode, as dictated by higher copper uptake capacity and also by increased binding affinity. We next pooled all published cases of human prion disease resulting from octarepeat expansion and find remarkable agreement between the sudden length-dependent change in copper coordination and onset age. Together, these findings suggest that either loss of PrP copper-dependent function or loss of copper-mediated protection against PrP polymerization makes a significant contribution to early onset prion disease.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19381258"
-},
{
"id": "pmid:21686668",
"manubot_success": true,
@@ -136842,27 +132437,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21686668"
},
-{
- "id": "pmid:19098441",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/19098441",
- "title": "Anti-bovine prion protein RNA aptamer containing tandem GGA repeat interacts both with recombinant bovine prion protein and its beta isoform with high affinity.",
- "type": "article-journal",
- "doi": "10.4161/pri.2.2.7024",
- "authors": [
- ["Kazuyoshi", "Murakami"],
- ["Fumiko", "Nishikawa"],
- ["Ken", "Noda"],
- ["Takashi", "Yokoyama"],
- ["Satoshi", "Nishikawa"]
- ],
- "publisher": "Prion",
- "issn": "1933-690X",
- "date": "2008-04-17",
- "abstract": "In order to obtain RNA aptamers against bovine prion protein (bPrP), we carried out in vitro selection from RNA pools containing a 55-nucleotide randomized region to target recombinant bPrP. Most of obtained aptamers contained conserved GGA tandem repeats (GGA)(4) and aptamer #1 (apt #1) showed a high affinity for both bPrP and its beta isoform (bPrP-beta). The sequence of apt #1 suggested that it would have a G-quadruplex structure, which was confirmed using CD spectra in titration with KCl. A mutagenic study of this conserved region, and competitive assays, showed that the conserved (GGA)(4) sequence is important for specific binding to bPrP and bPrP-beta. Following 5'-biotinylation, aptamer #1 specifically detected PrP(c) in bovine brain homogenate in a Northwestern blotting assay. Protein deletion mutant analysis showed that the bPrP aptamer binds within 25-131 of the bPrP sequence. Interestingly, the minimized aptamer #1 (17 nt) showed greater binding to bPrP and bPrP-beta as compared to apt #1. This minimized form of aptamer #1 may therefore be useful in the detection of bPrP, diagnosis of prion disease, enrichment of bPr and ultimately in gaining a better understanding of prion diseases.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19098441"
-},
{
"id": "pmid:19092329",
"manubot_success": true,
@@ -136890,49 +132464,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19092329"
},
-{
- "id": "pmid:18959744",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/18959744",
- "title": "Ligand binding promotes prion protein aggregation--role of the octapeptide repeats.",
- "type": "article-journal",
- "doi": "10.1111/j.1742-4658.2008.06680.x",
- "authors": [
- ["Shuiliang", "Yu"],
- ["Shaoman", "Yin"],
- ["Nancy", "Pham"],
- ["Poki", "Wong"],
- ["Shin-Chung", "Kang"],
- ["Robert B", "Petersen"],
- ["Chaoyang", "Li"],
- ["Man-Sun", "Sy"]
- ],
- "publisher": "The FEBS journal",
- "issn": "1742-4658",
- "date": "2008-11-01",
- "abstract": "Aggregation of the normal cellular prion protein, PrP, is important in the pathogenesis of prion disease. PrP binds glycosaminoglycan (GAG) and divalent cations, such as Cu(2+) and Zn(2+). Here, we report our findings that GAG and Cu(2+) promote the aggregation of recombinant human PrP (rPrP). The normal cellular prion protein has five octapeptide repeats. In the presence of either GAG or Cu(2+), mutant rPrPs with eight or ten octapeptide repeats are more aggregation prone, exhibit faster kinetics and form larger aggregates than wild-type PrP. When the GAG-binding motif, KKRPK, is deleted the effect of GAG but not that of Cu(2+) is abolished. By contrast, when the Cu(2+)-binding motif, the octapeptide-repeat region, is deleted, neither GAG nor Cu(2+) is able to promote aggregation. Therefore, the octapeptide-repeat region is critical in the aggregation of rPrP, irrespective of the promoting ligand. Furthermore, aggregation of rPrP in the presence of GAG is blocked with anti-PrP mAbs, whereas none of the tested anti-PrP mAbs block Cu(2+)-promoted aggregation. However, a mAb that is specific for an epitope at the N-terminus enhances aggregation in the presence of either GAG or Cu(2+). Therefore, although binding of either GAG or Cu(2+) promotes the aggregation of rPrP, their aggregation processes are different, suggesting multiple pathways of rPrP aggregation.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:18959744"
-},
-{
- "id": "pmid:18473442",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/18473442",
- "title": "Expansion of the octarepeat domain alters the misfolding pathway but not the folding pathway of the prion protein.",
- "type": "article-journal",
- "doi": "10.1021/bi800253c",
- "authors": [
- ["S Rutger", "Leliveld"],
- ["Lothar", "Stitz"],
- ["Carsten", "Korth"]
- ],
- "publisher": "Biochemistry",
- "issn": "1520-4995",
- "date": "2008-05-13",
- "abstract": "A misfolded conformation of the prion protein (PrP), PrP (Sc), is the essential component of prions, the infectious agents that cause transmissible neurodegenerative diseases. Insertional mutations that lead to an increase in the number of octarepeats (ORs) in PrP are linked to familial human prion disease. In this study, we investigated how expansion of the OR domain causes PrP to favor a prion-like conformation. Therefore, we compared the conformational and aggregation modulating properties of wild-type versus expanded OR domains, either as a fusion construct with the protein G B1 domain (GB1-OR) or as an integral part of full-length mouse PrP (MoPrP). Using circular dichroism spectroscopy, we first demonstrated that ORs are not unfolded but exist as an ensemble of three distinct conformers: polyproline helix-like, beta-turn, and \"Trp-related\". Domain expansion had little effect on the conformation of GB1-OR fusion proteins. When part of MoPrP however, OR domain expansion changed PrP's folding landscape, not by hampering the production of native alpha-helical monomers but by greatly reducing the propensity to form amyloid and by altering the assembly of misfolded, beta-rich aggregates. These features may relate to subtle pH-dependent conformational differences between wild-type and mutant monomers. In conclusion, we propose that PrP insertional mutations are pathogenic because they enhance specific misfolding pathways of PrP rather than by undermining native folding. This idea was supported by a trial bioassay in transgenic mice overexpressing wild-type MoPrP, where intracerebral injection of recombinant MoPrP with an expanded OR domain but not wild-type MoPrP caused prion disease.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:18473442"
-},
{
"id": "pmid:18397498",
"manubot_success": true,
@@ -136952,29 +132483,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:18397498"
},
-{
- "id": "pmid:18386869",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/18386869",
- "title": "Unveiling the role of histidine and tyrosine residues on the conformation of the avian prion hexarepeat domain.",
- "type": "article-journal",
- "doi": "10.1021/jp710702q",
- "authors": [
- ["Adriana", "Pietropaolo"],
- ["Luca", "Muccioli"],
- ["Claudio", "Zannoni"],
- ["Diego", "La Mendola"],
- ["Giuseppe", "Maccarrone"],
- ["Giuseppe", "Pappalardo"],
- ["Enrico", "Rizzarelli"]
- ],
- "publisher": "The journal of physical chemistry. B",
- "issn": "1520-6106",
- "date": "2008-04-03",
- "abstract": "The prion protein (PrPC) is a glycoprotein that in mammals, differently from avians, can lead to prion diseases, by misfolding into a beta-sheet-rich pathogenic isoform (PrPSc). Mammal and avian proteins show different N-terminal tandem repeats: PHGGGWGQ and PHNPGY, both containing histidine, whereas tyrosine is included only in the primary sequence of the avian protein. Here, by means of potentiometric, circular dichroism (CD), and molecular dynamics (MD) studies at different pH values, we have investigated the conformation of the avian tetrahexarepeat (PHNPGY)4 (TetraHexaPY) with both N- and C-termini blocked by acetylation and amidation, respectively. We have found, also with the help of a recently proposed protein chirality indicator (Pietropaolo, A.; Muccioli, L.; Berardi, R.; Zannoni, C. Proteins 2008, 70, 667-677), a conformational dependence on the protonation states of histidine and tyrosine residues: the turn formation is pH driven, and at physiological pH a pivotal role is played by the tyrosine OH groups which give rise to a very compact bent structure of backbone upon forming a hydrogen-bond network.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:18386869"
-},
{
"id": "pmid:18366654",
"manubot_success": true,
@@ -136993,26 +132501,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:18366654"
},
-{
- "id": "pmid:18280261",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/18280261",
- "title": "Copper-induced structural changes in the ovine prion protein are influenced by a polymorphism at codon 112.",
- "type": "article-journal",
- "doi": "10.1016/j.bbapap.2008.01.011",
- "authors": [
- ["Sujeong", "Yang"],
- ["Alana M", "Thackray"],
- ["Tim J", "Fitzmaurice"],
- ["Raymond", "Bujdoso"]
- ],
- "publisher": "Biochimica et biophysica acta",
- "issn": "0006-3002",
- "date": "2008-01-31",
- "abstract": "Prion diseases are associated with conformational change in the copper-binding protein PrP. The copper-binding sites in PrP are located in the N-terminal region of the molecule and comprise a series of tandem repeats of the sequence PHGGGWGQ together with two histidines at residues 96 and 111 (human PrP numbering). The co-ordination of copper ions within the non-octapeptide repeat metal ion-binding site involves Met109 (human numbering, which corresponds with Met112 in ovine PrP) and the binding of copper to this site leads to an increase in beta-sheet formation in PrP. Here we have investigated the influence of the M112T polymorphism on copper-induced structural changes in ovine recombinant PrP. M112ARQ and T112ARQ ovine PrP show similar secondary structure although M112ARQ appears more thermostable than T112ARQ. Following treatment with copper, M112ARQ showed a greater increase in beta-sheet content than did T112ARQ when measured by CD spectroscopy and by ELISA using anti-PrP monoclonal antibodies. These biochemical and biophysical differences between M112ARQ and T112ARQ correlate with similar differences seen between allelic variants of ovine PrP associated with susceptibility and resistance to classical scrapie. These observations suggest that T112ARQ may provide a measure of resistance to classical scrapie pathogenesis compared to M112ARQ.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:18280261"
-},
{
"id": "pmid:17709704",
"manubot_success": true,
@@ -137042,97 +132530,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17709704"
},
-{
- "id": "pmid:17548473",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/17548473",
- "title": "Prion protein repeat expansion results in increased aggregation and reveals phenotypic variability.",
- "type": "article-journal",
- "doi": "10.1128/mcb.02127-06",
- "authors": [
- ["Elizabeth M H", "Tank"],
- ["David A", "Harris"],
- ["Amar A", "Desai"],
- ["Heather L", "True"]
- ],
- "publisher": "Molecular and cellular biology",
- "issn": "0270-7306",
- "date": "2007-06-04",
- "abstract": "Mammalian prion diseases are fatal neurodegenerative disorders dependent on the prion protein PrP. Expansion of the oligopeptide repeats (ORE) found in PrP is associated with inherited prion diseases. Patients with ORE frequently harbor PrP aggregates, but other factors may contribute to pathology, as they often present with unexplained phenotypic variability. We created chimeric yeast-mammalian prion proteins to examine the influence of the PrP ORE on prion properties in yeast. Remarkably, all chimeric proteins maintained prion characteristics. The largest repeat expansion chimera displayed a higher propensity to maintain a self-propagating aggregated state. Strikingly, the repeat expansion conferred increased conformational flexibility, as observed by enhanced phenotypic variation. Furthermore, the repeat expansion chimera displayed an increased rate of prion conversion, but only in the presence of another aggregate, the [RNQ+] prion. We suggest that the PrP ORE increases the conformational flexibility of the prion protein, thereby enhancing the formation of multiple distinct aggregate structures and allowing more frequent prion conversion. Both of these characteristics may contribute to the phenotypic variability associated with PrP repeat expansion diseases.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17548473"
-},
-{
- "id": "pmid:16185063",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/16185063",
- "title": "Structure and stability of the CuII complexes with tandem repeats of the chicken prion.",
- "type": "article-journal",
- "doi": "10.1021/bi051177e",
- "authors": [
- ["Pawel", "Stanczak"],
- ["Daniela", "Valensin"],
- ["Paulina", "Juszczyk"],
- ["Zbigniew", "Grzonka"],
- ["Caterina", "Migliorini"],
- ["Elena", "Molteni"],
- ["Gianni", "Valensin"],
- ["Elena", "Gaggelli"],
- ["Henryk", "Kozlowski"]
- ],
- "publisher": "Biochemistry",
- "issn": "0006-2960",
- "date": "2005-10-04",
- "abstract": "Prion protein (PrP) misfolding is one of the pivotal issues in understanding the rudiments of neurodegenerative disorders. The conformational change of mammalian cellular PrP to scrapie PrP is caused by an unknown agent, but there is reasonable evidence supporting the key role of copper ions in this process. The structure of the avian PrP was found to be very similar to the mammalian protein, although there is only 30% homology in the secondary structure. This work shows that copper ions are very effectively bound by hexarepeat fragments of chicken prion protein, although not as effectively as it was found in the case of mammalian protein. By means of potentiometric and spectroscopic techniques (nuclear magnetic resonance, circular dichroism, UV-vis, and electronic paramagnetic resonance), it was shown that Cu(II) ions coordinate to the chicken PrP hexapeptide domain in physiological pH via imidazole nitrogen donors of His residue(s). The binding pattern changes the structure of peptide involved, indicating a possible impact of Cu(II) ions in the biology and pathology of nonmammalian PrP, which could be similar to that found for mammalian PrP. The present study shows that, similar to the human prion octapeptide repeats, chicken prion hexapeptide repeats might bind copper ions in two different ways, depending on the number of repeats and metal/ligand molar ratio: (i) an intra-repeat coordination mode in which copper ion is chelated by His imidazole and deprotonated amide nitrogen in monomeric peptide and (ii) an inter-repeat coordination mode in which a polymeric peptide ligand (dimer and trimer) forms polyimidazole complexes that are very stable at physiological pH. Two proline residues inserted into the hexapeptide unit have a critical impact on the metal-binding ability.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16185063"
-},
-{
- "id": "pmid:16083908",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/16083908",
- "title": "The formation of Escherichia coli curli amyloid fibrils is mediated by prion-like peptide repeats.",
- "type": "article-journal",
- "doi": "10.1016/j.jmb.2005.07.028",
- "authors": [
- ["Izhack", "Cherny"],
- ["Liat", "Rockah"],
- ["Orlev", "Levy-Nissenbaum"],
- ["Uri", "Gophna"],
- ["Eliora Z", "Ron"],
- ["Ehud", "Gazit"]
- ],
- "publisher": "Journal of molecular biology",
- "issn": "0022-2836",
- "date": "2005-09-16",
- "abstract": "Amyloid fibril formation is the hallmark of major human maladies including Alzheimer's disease, type II diabetes, and prion diseases. Prion-like phenomena were also observed in yeast. Although not evolutionarily related, one similarity between the animal PrP and the yeast Sup35 prion proteins is the occurrence of short peptide repeats that are assumed to play a key role in the assembly of the amyloid structures. It was recently demonstrated that typical amyloid fibril formation is associated with biofilm formation by Escherichia coli. Here, we note the functional and structural similarity between oligopeptide repeats of the major curli protein and those of animal and yeast prions. We demonstrate that synthetic peptides corresponding to the repeats form fibrillar structures. Furthermore, conjugation of beta-breaker elements to the prion-like repeat significantly inhibits amyloid formation and cell invasion of curli-expressing bacteria. This implies a functional role of the repeat in the self-assembly of the fibrils. Since mammal prion, yeast prion, and curli protein are evolutionarily distinct, the conserved peptide repeats most likely define an optimized self-association motif that was independently evolved by diverse systems.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16083908"
-},
-{
- "id": "pmid:15926068",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/15926068",
- "title": "Copper(II) complexes with chicken prion repeats: influence of proline and tyrosine residues on the coordination features.",
- "type": "article-journal",
- "doi": "10.1007/s00775-005-0659-z",
- "authors": [
- ["Diego", "La Mendola"],
- ["Raffaele P", "Bonomo"],
- ["Giuseppe", "Impellizzeri"],
- ["Giuseppe", "Maccarrone"],
- ["Giuseppe", "Pappalardo"],
- ["Adriana", "Pietropaolo"],
- ["Enrico", "Rizzarelli"],
- ["Valeria", "Zito"]
- ],
- "publisher": "Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry",
- "issn": "0949-8257",
- "date": "2005-09-23",
- "abstract": "The prion protein (PrP(c)) is a copper-binding glycoprotein that can misfold into a beta-sheet-rich and pathogenic isoform (PrP(sc)) leading to prion diseases. The first non-mammalian PrP(c) was identified in chicken and it was found to keep many structural motifs present in mammalian PrP(c), despite the low sequence identity (approximately 40%) between the two primary structures. The present paper describes the synthesis and the coordination properties of some hexapeptide fragments (namely, PHNPGY , HNPGYP and NPGYPH) as well as a bishexapeptide (PHNPGYPHNPGY), which encompasses two hexarepeats. The copper(II) complexes were characterized by means of potentiometric, UV-vis, circular dichroism and electron paramagnetic resonance techniques. We also report the synthesis of three hexapeptides (PHNPGF, HNPGFP and NPGFPH), in which one tyrosine was replaced by phenylalanine as well as two bishexapeptides in which either one (PHNPGFPHNPGY and PHNPGYPHNPGF), or two tyrosines were replaced by phenylalanine, in order to check whether tyrosine was involved in copper(II) binding. Overall, the results indicate that the major copper(II) species formed by the chicken PrP dodecapeptides are stabler than the analogous species reported for the peptide fragments containing two octarepeat peptides from the mammalian prion protein. It is concluded that the presence of four prolyl residues, that are break points in copper coordination, induces the metal-assisted formation of macrochelates as well as the formation of binuclear species. Furthermore, it has been shown that the phenolic group is directly involved in the formation of copper binuclear species.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:15926068"
-},
{
"id": "pmid:15643617",
"manubot_success": true,
@@ -137175,26 +132572,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:14729275"
},
-{
- "id": "pmid:12519913",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/12519913",
- "title": "Molecular evolution of the mammalian prion protein.",
- "type": "article-journal",
- "doi": "10.1093/molbev/msg014",
- "authors": [
- ["Teun", "van Rheede"],
- ["Marcel M W", "Smolenaars"],
- ["Ole", "Madsen"],
- ["Wilfried W", "de Jong"]
- ],
- "publisher": "Molecular biology and evolution",
- "issn": "0737-4038",
- "date": "2003-01-01",
- "abstract": "Prion protein (PrP) sequences are until now available for only six of the 18 orders of placental mammals. A broader comparison of mammalian prions might help to understand the enigmatic functional and pathogenic properties of this protein. We therefore determined PrP coding sequences in 26 mammalian species to include all placental orders and major subordinal groups. Glycosylation sites, cysteines forming a disulfide bridge, and a hydrophobic transmembrane region are perfectly conserved. Also, the sequences responsible for secondary structure elements, for N- and C-terminal processing of the precursor protein, and for attachment of the glycosyl-phosphatidylinositol membrane anchor are well conserved. The N-terminal region of PrP generally contains five or six repeats of the sequence P(Q/H)GGG(G/-)WGQ, but alleles with two, four, and seven repeats were observed in some species. This suggests, together with the pattern of amino acid replacements in these repeats, the regular occurrence of repeat expansion and contraction. Histidines implicated in copper ion binding and a proline involved in 4-hydroxylation are lacking in some species, which questions their importance for normal functioning of cellular PrP. The finding in certain species of two or seven repeats, and of amino acid substitutions that have been related to human prion diseases, challenges the relevance of such mutations for prion pathology. The gene tree deduced from the PrP sequences largely agrees with the species tree, indicating that no major deviations occurred in the evolution of the prion gene in different placental lineages. In one species, the anteater, a prion pseudogene was present in addition to the active gene.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12519913"
-},
{
"id": "pmid:12451210",
"manubot_success": true,
@@ -137219,23 +132596,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12451210"
},
-{
- "id": "pmid:11521680",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/11521680",
- "title": "RuNAway Disease: A two cycle model for transmissible spongiform encephalopathies (TSEs) wherein SINE proliferation drives PrP overproduction.",
- "type": "article-journal",
- "doi": "10.1186/gb-2001-2-7-preprint0006",
- "authors": [
- ["T J", "Gibson"]
- ],
- "publisher": "Genome biology",
- "issn": "1474-760X",
- "date": "2001-01-01",
- "abstract": "Despite decades of research, the agent responsible for transmitting spongiform encephalopathies (TSEs) has not been identified. The Prion hypothesis, which dominates the field, supposes that modified host PrP protein, termed PrPSc, acts as the transmissible agent. This model fits the observation that TSE diseases elicit almost no immune reaction. Prion transmission has not been verified, however, as it has not been possible to produce pure PrPSc aggregates. One long-standing objection to the Prion model is the observation that TSE disease agents show classical genetic behaviours, such as reproducible strain variation, while also responding to selection for novel traits such as adaptation to new hosts. Moreover, evidence has been steadily accumulating that infectious titre is decoupled from the quantity (or even the presence) of PrPSc deposits. Rather awkwardly for the Prion hypothesis, PrP0/0 knockout mice have been found to incubate and transmit TSE agents (despite themselves being refractory to TSE disease).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11521680"
-},
{
"id": "pmid:10611945",
"manubot_success": true,
@@ -137255,45 +132615,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10611945"
},
-{
- "id": "pmid:10448860",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10448860",
- "title": "Oligopeptide-repeat expansions modulate 'protein-only' inheritance in yeast.",
- "type": "article-journal",
- "doi": "10.1038/23048",
- "authors": [
- ["J J", "Liu"],
- ["S", "Lindquist"]
- ],
- "publisher": "Nature",
- "issn": "0028-0836",
- "date": "1999-08-05",
- "abstract": "The yeast [PSI+] element represents a new type of genetic inheritance, in which changes in phenotype are transmitted by a 'protein only' mechanism reminiscent of the 'protein-only' transmission of mammalian prion diseases. The underlying molecular mechanisms for both are poorly understood and it is not clear how similar they might be. Sup35, the [PSI+] protein determinant, and PrP, the mammalian prion determinant, have different functions, different cellular locations and no sequence similarity; however, each contains five imperfect oligopeptide repeats-PQGGYQQYN in Sup35 and PHGGGWGQ in PrP. Repeat expansions in PrP produce spontaneous prion diseases. Here we show that replacing the wild-type SUP35 gene with a repeat-expansion mutation induces new [PSI+] elements, the first mutation of its type among these newly described elements of inheritance. In vitro, fully denatured repeat-expansion peptides can adopt conformations rich in beta-sheets and form higher-order structures much more rapidly than wild-type peptides. Our results provide insight into the nature of the conformational changes underlying protein-based mechanisms of inheritance and suggest a link between this process and those producing neurodegenerative prion diseases in mammals.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10448860"
-},
-{
- "id": "pmid:9880037",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/9880037",
- "title": "The shortest known prion protein gene allele occurs in goats, has only three octapeptide repeats and is non-pathogenic.",
- "type": "article-journal",
- "doi": "10.1099/0022-1317-79-12-3173",
- "authors": [
- ["W", "Goldmann"],
- ["A", "Chong"],
- ["J", "Foster"],
- ["J", "Hope"],
- ["N", "Hunter"]
- ],
- "publisher": "The Journal of general virology",
- "issn": "0022-1317",
- "date": "1998-12-01",
- "abstract": "The prion protein (PrP) gene modulates the incidence and incubation periods of transmissible spongiform encephalopathies of sheep, goats, mice and man. Here, a new caprine PrP allele encoding the shortest naturally occurring PrP protein so far described is reported. This variant contains only three instead of the usual five copies of a short peptide repeat [Pro-Gln/His-Gly-Gly-Gly-(Gly)-TrpGly-Gln] characteristic of PrP, with an additional Trp to Gly substitution in codon 102. Fifteen out of 111 genotyped goats carried the novel PrP allele and 14 survived without signs of disease for at least 4 years. One goat heterozygous for the polymorphism was challenged experimentally with SSBP/1-scrapie and succumbed after an unusually long incubation period.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9880037"
-},
{
"id": "pmid:9710033",
"manubot_success": true,
@@ -137339,32 +132660,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9565627"
},
-{
- "id": "pmid:7572084",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/7572084",
- "title": "Prion disease with 144 base pair insertion in a Japanese family line.",
- "type": "article-journal",
- "doi": "10.1007/bf00294463",
- "authors": [
- ["T", "Oda"],
- ["T", "Kitamoto"],
- ["J", "Tateishi"],
- ["T", "Mitsuhashi"],
- ["K", "Iwabuchi"],
- ["C", "Haga"],
- ["E", "Oguni"],
- ["Y", "Kato"],
- ["I", "Tominaga"],
- ["K", "Yanai"]
- ],
- "publisher": "Acta neuropathologica",
- "issn": "0001-6322",
- "date": "1995-01-01",
- "abstract": "We describe an insert mutation in the prion protein (PrP) gene in a Japanese family line that encodes six octapeptide repeats. This is the second report to date of an inherited prion disease with a 144-base pair insertion, although the order of the repeat sequences differ from that reported for the disease in an English family line. The clinical features, like those of the English patients, were characterized by a slowly progressive generalized dementia with some neurological signs and cortical focal symptoms. Postmortem examination disclosed diffuse atrophy of cerebral gray matter and the cerebellar cortex; histologically, there were marked patchy and regional neuronal loss with astrocytosis in the frontal cortex, amygdala and hippocampus and PrP-immunoreactive plaques in the molecular layer of the cerebellum. These plaques were different from typical kuru plaques. The prion disease in the present Japanese family line is compared with that in the English family line.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7572084"
-},
{
"id": "pmid:8030952",
"manubot_success": true,
@@ -137382,45 +132677,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8030952"
},
-{
- "id": "pmid:1357594",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/1357594",
- "title": "A PrP gene codon 178 base substitution and a 24-bp interstitial deletion in familial Creutzfeldt-Jakob disease.",
- "type": "article-journal",
- "doi": "10.1212/wnl.42.10.1864",
- "authors": [
- ["P J", "Bosque"],
- ["C L", "Vnencak-Jones"],
- ["M D", "Johnson"],
- ["J A", "Whitlock"],
- ["M J", "McLean"]
- ],
- "publisher": "Neurology",
- "issn": "0028-3878",
- "date": "1992-10-01",
- "abstract": "Several mutations in the prion protein (PrP) gene are associated with familial Creutzfeldt-Jakob disease (FCJD). We describe a family in which five members in three generations have had FCJD. The proband and some descendants of the affected members carried an abnormal PrP gene allele. This allele contained a 24-bp deletion from the tandem repeat region of the open reading frame and a codon 178 missense substitution. Observations suggest that the codon 178 mutation is involved in the pathogenesis of FCJD in the family described here. The 24-bp deletion may be an uncommon polymorphism.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:1357594"
-},
-{
- "id": "pmid:1967310",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/1967310",
- "title": "Stem loops in HIV and prion protein mRNAs.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["P R", "Wills"],
- ["A J", "Hughes"]
- ],
- "publisher": "Journal of acquired immune deficiency syndromes",
- "issn": "0894-9255",
- "date": "1990-01-01",
- "abstract": "Tat-dependent trans-activation in HIV requires presentation of a CUGGG pentanucleotide at the end of a stem loop within the tar site of the viral long terminal repeat. A tandem repeat within the open reading frame of the prion protein (PrP) mRNA is able to form similar stem loop structures with which the HIV tat protein could interact, disturbing PrP translation. Self-amplification of such a disturbance has been suggested as the cause of the scrapie group of diseases, including the scrapie-like human dementiae. The same mechanism may underly AIDS encephalopathy.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:1967310"
-},
{
"id": "pmid:37339841",
"manubot_success": true,
@@ -137728,6 +132984,35 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31483537"
},
+{
+ "id": "pmid:39721397",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39721397",
+ "title": "Spectrum disorder of RFC1 expansions/CANVAS: Clinical and electrophysiological characterization of a group of 31 patients.",
+ "type": "article-journal",
+ "doi": "10.1016/j.clinph.2024.12.007",
+ "authors": [
+ ["Elena", "Lainez"],
+ ["Daniel", "S\u00e1nchez-Tejerina"],
+ ["Paula", "Fern\u00e1ndez Alvarez"],
+ ["Margarida", "Gratac\u00f2s-Vi\u00f1ola"],
+ ["Jos\u00e9 Luis", "Seoane"],
+ ["Daniela Isabel", "Santa-Cruz"],
+ ["Lena", "Verdaguer"],
+ ["Ra\u00fal", "Juntas"],
+ ["Arnau", "Llaurad\u00f3"],
+ ["Javier", "Sotoca"],
+ ["Maria", "Salvado"],
+ ["Elena", "Garc\u00eda Arumi"],
+ ["N\u00faria", "Raguer"]
+ ],
+ "publisher": "Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology",
+ "issn": "1872-8952",
+ "date": "2024-12-19",
+ "abstract": "Biallelic expansion of the pentanucleotide AAGGG in the RFC1- gene is associated with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). This study aimed to comprehensively characterise this condition by conducting an in-depth neurophysiological examination of afflicted patients.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39721397"
+},
{
"id": "pmid:39543176",
"manubot_success": true,
@@ -137751,6 +133036,32 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39543176"
},
+{
+ "id": "pmid:39507594",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39507594",
+ "title": "Early Peripheral Nerve Involvement at the Time of Coughing in Patients With",
+ "type": "article-journal",
+ "doi": "10.1212/nxg.0000000000200166",
+ "authors": [
+ ["Simon", "Frachet"],
+ ["Pauline", "Chazelas"],
+ ["Laurent", "Magy"],
+ ["Pascal", "Cintas"],
+ ["Danielle", "Brouqui\u00e8res"],
+ ["Pierre", "Girardie"],
+ ["Louise", "Espagno"],
+ ["Boris", "Melloni"],
+ ["Laurent", "Guilleminault"],
+ ["Anne-Sophie", "Lia"]
+ ],
+ "publisher": "Neurology. Genetics",
+ "issn": "2376-7839",
+ "date": "2024-07-19",
+ "abstract": "Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome results from variations in",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39507594"
+},
{
"id": "pmid:39416949",
"manubot_success": true,
@@ -138267,6 +133578,47 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38145611"
},
+{
+ "id": "pmid:38062616",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/38062616",
+ "title": "RNA Foci in Two bi-Allelic RFC1 Expansion Carriers.",
+ "type": "article-journal",
+ "doi": "10.1002/ana.26848",
+ "authors": [
+ ["Taishi", "Wada"],
+ ["Hiroshi", "Doi"],
+ ["Masaki", "Okubo"],
+ ["Mikiko", "Tada"],
+ ["Naohisa", "Ueda"],
+ ["Hidefumi", "Suzuki"],
+ ["Wakana", "Tominaga"],
+ ["Haruki", "Koike"],
+ ["Hiroyasu", "Komiya"],
+ ["Shun", "Kubota"],
+ ["Shunta", "Hashiguchi"],
+ ["Haruko", "Nakamura"],
+ ["Keita", "Takahashi"],
+ ["Misako", "Kunii"],
+ ["Kenichi", "Tanaka"],
+ ["Yosuke", "Miyaji"],
+ ["Yuichi", "Higashiyama"],
+ ["Eriko", "Koshimizu"],
+ ["Satoko", "Miyatake"],
+ ["Masahisa", "Katsuno"],
+ ["Satoshi", "Fujii"],
+ ["Hidehisa", "Takahashi"],
+ ["Naomichi", "Matsumoto"],
+ ["Hideyuki", "Takeuchi"],
+ ["Fumiaki", "Tanaka"]
+ ],
+ "publisher": "Annals of neurology",
+ "issn": "1531-8249",
+ "date": "2023-12-27",
+ "abstract": "Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a late-onset, autosomal recessive neurodegenerative disorder caused by biallelic AAGGG/ACAGG repeat expansion (AAGGG-exp/ACAGG-exp) in RFC1. The recent identification of patients with CANVAS exhibiting compound heterozygosity for AAGGG-exp and truncating variants supports the loss-of-function of RFC1 in CANVAS patients. We investigated the pathological changes in 2 autopsied patients with CANVAS harboring biallelic ACAGG-exp and AAGGG-exp. RNA fluorescence in situ hybridization of the 2 patients revealed CCTGT- and CCCTT-containing RNA foci, respectively, in neuronal nuclei of tissues with neuronal loss. Our findings suggest that RNA toxicity may be involved in the pathogenesis of CANVAS. ANN NEUROL 2024;95:607-613.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38062616"
+},
{
"id": "pmid:38054570",
"manubot_success": true,
@@ -138316,6 +133668,39 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38054570"
},
+{
+ "id": "pmid:37917284",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/37917284",
+ "title": "Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort.",
+ "type": "article-journal",
+ "doi": "10.1007/s10048-023-00736-6",
+ "authors": [
+ ["Nishu", "Tyagi"],
+ ["Bharathram", "Uppili"],
+ ["Pooja", "Sharma"],
+ ["Shaista", "Parveen"],
+ ["Sheeba", "Saifi"],
+ ["Abhinav", "Jain"],
+ ["Akhilesh", "Sonakar"],
+ ["Istaq", "Ahmed"],
+ ["Shweta", "Sahni"],
+ ["Uzma", "Shamim"],
+ ["Avni", "Anand"],
+ ["Varun", "Suroliya"],
+ ["Vivekanand", "Asokachandran"],
+ ["Achal", "Srivastava"],
+ ["Sridhar", "Sivasubbu"],
+ ["Vinod", "Scaria"],
+ ["Mohammed", "Faruq"]
+ ],
+ "publisher": "Neurogenetics",
+ "issn": "1364-6753",
+ "date": "2023-11-02",
+ "abstract": "An intronic bi-allelic pentanucleotide repeat expansion mutation, (AAGGG)",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37917284"
+},
{
"id": "pmid:37892228",
"manubot_success": true,
@@ -138425,29 +133810,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37660923"
},
-{
- "id": "pmid:37549289",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37549289",
- "title": "FAN1 removes triplet repeat extrusions via a PCNA- and RFC-dependent mechanism.",
- "type": "article-journal",
- "doi": "10.1073/pnas.2302103120",
- "authors": [
- ["Ashutosh S", "Phadte"],
- ["Mayuri", "Bhatia"],
- ["Hope", "Ebert"],
- ["Haaris", "Abdullah"],
- ["Essam Abed", "Elrazaq"],
- ["Konstantin E", "Komolov"],
- ["Anna", "Pluciennik"]
- ],
- "publisher": "Proceedings of the National Academy of Sciences of the United States of America",
- "issn": "1091-6490",
- "date": "2023-08-07",
- "abstract": "Human genome-wide association studies have identified",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37549289"
-},
{
"id": "pmid:37476326",
"manubot_success": true,
@@ -138868,6 +134230,42 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35884855"
},
+{
+ "id": "pmid:35883251",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/35883251",
+ "title": "RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.",
+ "type": "article-journal",
+ "doi": "10.1093/brain/awac280",
+ "authors": [
+ ["Mehdi", "Benkirane"],
+ ["Dylan", "Da Cunha"],
+ ["Cecilia", "Marelli"],
+ ["Lise", "Larrieu"],
+ ["Mathilde", "Renaud"],
+ ["Jessica", "Varilh"],
+ ["Morgane", "Pointaux"],
+ ["David", "Baux"],
+ ["Olivier", "Ardouin"],
+ ["Charles", "Vangoethem"],
+ ["Magali", "Taulan"],
+ ["Benjamin", "Daumas Duport"],
+ ["Anne", "Bergougnoux"],
+ ["Anne-Gaelle", "Corbill\u00e9"],
+ ["Mireille", "Coss\u00e9e"],
+ ["Raul", "Juntas Morales"],
+ ["Sylvie", "Tuffery-Giraud"],
+ ["Michel", "Koenig"],
+ ["Bertrand", "Isidor"],
+ ["Marie-Claire", "Vincent"]
+ ],
+ "publisher": "Brain : a journal of neurology",
+ "issn": "1460-2156",
+ "date": "2022-11-21",
+ "abstract": "Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an inherited late-onset neurological disease caused by bi-allelic AAGGG pentanucleotide expansions within intron 2 of RFC1. Despite extensive studies, the pathophysiological mechanism of these intronic expansions remains elusive. We screened by clinical exome sequencing two unrelated patients presenting with late-onset ataxia. A repeat-primer polymerase chain reaction was used for RFC1 AAGGG intronic expansion identification. RFC1 mRNA expression was assessed by quantitative reverse transcription-polymerase chain reaction. We identified the first two CANVAS affected patients who are compound heterozygous for RFC1 truncating variants (p.Arg388* and c.575delA, respectively) and a pathological AAGGG expansion. RFC1 expression studies in whole blood showed a significant reduction of RFC1 mRNA for both patients compared to three patients with bi-allelic RFC1 expansions. In conclusion, this observation provides clues that suggest bi-allelic RFC1 conditional loss-of-function as the cause of the disease.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35883251"
+},
{
"id": "pmid:35864213",
"manubot_success": true,
@@ -140087,32 +135485,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22086855"
},
-{
- "id": "pmid:18406541",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/18406541",
- "title": "Folate pathway genetic polymorphisms and susceptibility of central nervous system tumors in Thai children.",
- "type": "article-journal",
- "doi": "10.1016/j.cdp.2008.02.004",
- "authors": [
- ["Nongnuch", "Sirachainan"],
- ["Siranee", "Wongruangsri"],
- ["Saowanee", "Kajanachumpol"],
- ["Samart", "Pakakasama"],
- ["Anannit", "Visudtibhan"],
- ["Issarang", "Nuchprayoon"],
- ["Apasri", "Lusawat"],
- ["Suchart", "Phudhicharoenrat"],
- ["Shanop", "Shuangshoti"],
- ["Suradej", "Hongeng"]
- ],
- "publisher": "Cancer detection and prevention",
- "issn": "1525-1500",
- "date": "2008-04-11",
- "abstract": "Folate is an important micronutrient molecule participating in DNA synthesis, methylation and repair mechanisms. Genetic polymorphisms in folate pathway related enzymes including methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, thymidylate synthase (TS) 28-bp tandem repeat, and reduced folate carrier (RFC) G80A have been shown to be associated with increased susceptibility for several cancers. The aim of the present study was to evaluate whether single nucleotide polymorphisms in the genes encoding enzymes of the folate pathway predispose to any CNS tumors in Thai children.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:18406541"
-},
{
"id": "pmid:15457444",
"manubot_success": true,
@@ -140189,27 +135561,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39044557"
},
-{
- "id": "pmid:24111041",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/24111041",
- "title": "Expansion capsules for diet control with artificial organ technology.",
- "type": "article-journal",
- "doi": "10.1109/embc.2013.6610854",
- "authors": [
- ["Tomoyuki", "Yambe"],
- ["Yasuyuki", "Shiraishi"],
- ["Hidekazu", "Miura"],
- ["Norihiro", "Sugita"],
- ["Makoto", "Yoshizawa"]
- ],
- "publisher": "Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference",
- "issn": "2694-0604",
- "date": "2013-01-01",
- "abstract": "When we consider the medical economy, the Obesity is one of the leading preventable causes of death worldwide. However, a lot of previous scientific papers reported that 95% of obesity patients would not be able to control their weight by the diet. The surgical operation has been considered to the subjects with severe obesity. But, there is a possibility of complication or comorbidity in surgical operation. Tohoku University started to develop the expanding capsule with transcutaneous energy transmission system (TETS) having the same effect as the surgical operation. The capsule in the stomach will expand mechanically by energy transmission from outsides of the body, when the obesity patients will felt hungry. Small linear drive with folding umbrella type actuator would enable us the expansion of the diet capsules. Satisfactory characteristic of the energy transmission was obtained by the trial model of TETS during animal experiments. Animal experiments with healthy adult goats enabled us the evaluation of the inner stomach pressure time series changes, and feasibility study. Double blind test of the expanding capsule is now under planning. If the expanding capsule diet control system will be embodied, it becomes the gospel of the obese subject.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24111041"
-},
{
"id": "pmid:37365568",
"manubot_success": true,
@@ -140782,189 +136133,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30194086"
},
-{
- "id": "pmid:35164824",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35164824",
- "title": "Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene.",
- "type": "article-journal",
- "doi": "10.1186/s13039-022-00580-7",
- "authors": [
- ["Shengfang", "Qin"],
- ["Xueyan", "Wang"],
- ["Jin", "Wang"]
- ],
- "publisher": "Molecular cytogenetics",
- "issn": "1755-8166",
- "date": "2022-02-14",
- "abstract": "A male individual with a karyotype of 46,XX is very rare. We explored the genetic aetiology of an infertility male with a kayrotype of 46,XX and SRY negative.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35164824"
-},
-{
- "id": "pmid:23505376",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/23505376",
- "title": "Mechanistic insight into the pathology of polyalanine expansion disorders revealed by a mouse model for X linked hypopituitarism.",
- "type": "article-journal",
- "doi": "10.1371/journal.pgen.1003290",
- "authors": [
- ["James", "Hughes"],
- ["Sandra", "Piltz"],
- ["Nicholas", "Rogers"],
- ["Dale", "McAninch"],
- ["Lynn", "Rowley"],
- ["Paul", "Thomas"]
- ],
- "publisher": "PLoS genetics",
- "issn": "1553-7404",
- "date": "2013-03-07",
- "abstract": "Polyalanine expansions in transcription factors have been associated with eight distinct congenital human diseases. It is thought that in each case the polyalanine expansion causes misfolding of the protein that abrogates protein function. Misfolded proteins form aggregates when expressed in vitro; however, it is less clear whether aggregation is of relevance to these diseases in vivo. To investigate this issue, we used targeted mutagenesis of embryonic stem (ES) cells to generate mice with a polyalanine expansion mutation in Sox3 (Sox3-26ala) that is associated with X-linked Hypopituitarism (XH) in humans. By investigating both ES cells and chimeric mice, we show that endogenous polyalanine expanded SOX3 does not form protein aggregates in vivo but rather is present at dramatically reduced levels within the nucleus of mutant cells. Importantly, the residual mutant protein of chimeric embryos is able to rescue a block in gastrulation but is not sufficient for normal development of the hypothalamus, a region that is functionally compromised in Sox3 null embryos and individuals with XH. Together, these data provide the first definitive example of a disease-relevant PA mutant protein that is both nuclear and functional, thereby manifesting as a partial loss-of-function allele.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23505376"
-},
-{
- "id": "pmid:20495863",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/20495863",
- "title": "Comparative analysis of SOX3 protein orthologs: Expansion of homopolymeric amino acid tracts during vertebrate evolution.",
- "type": "article-journal",
- "doi": "10.1007/s10528-010-9343-2",
- "authors": [
- ["Marija", "Mojsin"],
- ["Natasa", "Kovacevic-Grujicic"],
- ["Aleksandar", "Krstic"],
- ["Jelena", "Popovic"],
- ["Milena", "Milivojevic"],
- ["Milena", "Stevanovic"]
- ],
- "publisher": "Biochemical genetics",
- "issn": "1573-4927",
- "date": "2010-05-21",
- "abstract": "To understand more fully the structure and evolution of the SOX3 protein, we comparatively analyzed its orthologs in vertebrates. Since complex disorders are associated with human SOX3 polyalanine expansions, our investigation focused on both compositional and evolutionary analysis of various homopolymeric amino acid tracts observed in SOX3 orthologs. Our analysis revealed that the observed homopolymeric alanine, glycine, and proline tracts are mammal-specific, except for one polyglycine tract present in birds. Since it is likely that the SOX3 protein acquired additional roles in brain development in Eutheria, we might speculate that development of novel brain functions during the course of evolution was affected, at least in part, by such structural-functional changes in the SOX3 protein.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20495863"
-},
-{
- "id": "pmid:39601102",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39601102",
- "title": "Immediate Postoperative Changes After Expansion Pharyngoplasty and Hypoglossal Nerve Stimulation.",
- "type": "article-journal",
- "doi": "10.1002/lary.31933",
- "authors": [
- ["Phoebe K", "Yu"],
- ["Victoria", "Wong"],
- ["Kaitlyn", "Cook"],
- ["Phillip", "Huyett"]
- ],
- "publisher": "The Laryngoscope",
- "issn": "1531-4995",
- "date": "2024-11-27",
- "abstract": "Patients with obstructive sleep apnea (OSA) are at an increased risk for perioperative cardiopulmonary complications. Our objective was to assess the postoperative effects of hypoglossal nerve stimulation implantation (HGNS) and expansion pharyngoplasty (EP) on longitudinal sleep apnea measures as a surrogate for respiratory complications.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39601102"
-},
-{
- "id": "pmid:39581335",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39581335",
- "title": "Expansion limits of meshed split-thickness skin grafts.",
- "type": "article-journal",
- "doi": "10.1016/j.actbio.2024.11.038",
- "authors": [
- ["Haomin", "Yu"],
- ["Mohammad", "Jafari"],
- ["Aliza", "Mujahid"],
- ["Chelsea F", "Garcia"],
- ["Jaisheel", "Shah"],
- ["Riya", "Sinha"],
- ["Yuxuan", "Huang"],
- ["Delaram", "Shakiba"],
- ["Yuan", "Hong"],
- ["Danial", "Cheraghali"],
- ["John R S", "Pryce"],
- ["Jacob A", "Sandler"],
- ["Elliot L", "Elson"],
- ["Justin M", "Sacks"],
- ["Guy M", "Genin"],
- ["Farid", "Alisafaei"]
- ],
- "publisher": "Acta biomaterialia",
- "issn": "1878-7568",
- "date": "2024-11-22",
- "abstract": "Split-thickness skin grafts are widely used to treat chronic wounds. Procedure design requires surgeons to predict how much a patch of the patient's own skin expands when it is meshed with rows of slits and stretched over a larger wound area. Accurate prediction of graft expansion remains a challenge, with current models overestimating the actual expansion, leading to suboptimal outcomes. Inspired by the principles of mechanical metamaterials, we developed a model that distinguishes between the kinematic rearrangement of structural elements and their stretching, providing a more accurate prediction of skin graft expansion. Our model was validated against extensive data from skin graft surgeries, demonstrating vastly superior predictive capability compared to existing methods. This metamaterial-inspired approach enables informed decision-making for potentially improving healing outcomes. STATEMENT OF SIGNIFICANCE: Accurately predicting the expansion of meshed skin grafts is crucial for minimizing patient trauma and optimizing healing outcomes in reconstructive surgery. However, current quantitative models, which treat grafts as tessellated trusses of rigid bars, fail to accurately estimate graft expansion. We have uncovered the mechanisms underlying skin graft expansion and developed a straightforward method based on these findings. This method, designed for practical use by surgeons, provides accurate predictions of graft expansion, as validated against extensive data from skin graft surgeries.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39581335"
-},
-{
- "id": "pmid:39326692",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39326692",
- "title": "Tissue expansion mitigates radiation-induced skin fibrosis in a porcine model.",
- "type": "article-journal",
- "doi": "10.1016/j.actbio.2024.09.035",
- "authors": [
- ["Laura", "Nunez-Alvarez"],
- ["Joanna K", "Ledwon"],
- ["Sarah", "Applebaum"],
- ["Bianka", "Progri"],
- ["Tianhong", "Han"],
- ["Joel", "Laudo"],
- ["Vahidullah", "Tac"],
- ["Arun K", "Gosain"],
- ["Adrian Buganza", "Tepole"]
- ],
- "publisher": "Acta biomaterialia",
- "issn": "1878-7568",
- "date": "2024-09-24",
- "abstract": "Tissue expansion (TE) is the primary method for breast reconstruction after mastectomy. In many cases, mastectomy patients undergo radiation treatment (XR). Radiation is known to induce skin fibrosis and is one of the main causes for complications during post-mastectomy breast reconstruction. TE, on the other hand, induces a pro-regenerative response that culminates in growth of new skin. However, the combined effect of XR and TE on skin mechanics is unknown. Here we used the porcine model of TE to study the effect of radiation on skin fibrosis through biaxial testing, histological analysis, and kinematic analysis of skin deformation over time. We found that XR leads to stiffening of skin compared to control based on a shift in the transition stretch (transition between a low stiffness and an exponential stress-strain region characteristic of collagenous tissue) and an increase in the high modulus (modulus computed with stress-stretch data past the transition point). The change in transition stretch can be explained by thicker, more aligned collagen fiber bundles measured in histology images. Skin subjected to both XR+TE showed similar microstructure to controls as well as similar biaxial response, suggesting that physiological remodeling of collagen induced by TE partially counteracts pro-fibrotic XR effects. Skin growth was indirectly assessed with a kinematic approach that quantified increase in permanent area changes without reduction in thickness, suggesting production of new tissue driven by TE even in the presence of radiation treatment. Future work will focus on the detailed biological mechanisms by which TE counteracts radiation induced fibrosis. STATEMENT OF SIGNIFICANCE: Breast cancer is the most prevalent in women and its treatment often results in total breast removal (mastectomy), followed by reconstruction using tissue expanders. Radiation, which is used in about a third of breast reconstruction cases, can lead to significant complications. The timing of radiation treatment remains controversial. Radiation is known to cause immediate skin damage and long-term fibrosis. Tissue expansion leads to a pro-regenerative response involving collagen remodeling. Here we show that tissue expansion immediately prior to radiation can reduce the level of radiation-induced fibrosis. Thus, we anticipate that this new evidence will open up new avenues of investigation into how the collagen remodeling and pro-regenerative effects of tissue expansion can be leverage to prevent radiation-induced fibrosis.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39326692"
-},
-{
- "id": "pmid:38989480",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38989480",
- "title": "CO",
- "type": "article-journal",
- "doi": "10.7196/sajcc.2024.v40i1.652",
- "authors": [
- ["F", "Faris"],
- ["A", "El-Houfi"],
- ["M", "El Shahat"],
- ["H", "Khalid"],
- ["A", "Al-Azab"]
- ],
- "publisher": "The Southern African journal of critical care : the official journal of the Critical Care Society",
- "issn": "2078-676X",
- "date": "2024-04-23",
- "abstract": "The difference in partial pressure of carbon dioxide (PCO",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38989480"
-},
-{
- "id": "pmid:38837793",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38837793",
- "title": "The Association Between Medicaid Expansion and Disparities in Vestibular Schwannoma Incidence.",
- "type": "article-journal",
- "doi": "10.1002/lary.31517",
- "authors": [
- ["Alexander S", "Homer"],
- ["Viknesh S", "Kasthuri"],
- ["Benjamin J", "Homer"],
- ["Rishubh", "Jain"],
- ["Emily K", "Gall"],
- ["Kathryn Y", "Noonan"]
- ],
- "publisher": "The Laryngoscope",
- "issn": "1531-4995",
- "date": "2024-06-04",
- "abstract": "The effect of Medicaid expansion as a part of the Affordable Care Act on vestibular schwannoma (VS) incidence overall and in marginalized populations has not yet been elucidated. The goal of this study was to determine if Medicaid expansion was associated with increases in VS incidence overall, as well as in patients of non-white race or in counties of low socioeconomic status (SES).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38837793"
-},
{
"id": "pmid:38834915",
"manubot_success": true,
@@ -141026,256 +136194,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38616406"
},
-{
- "id": "pmid:38598746",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38598746",
- "title": "Effects of Achieving Rapid, Intensive, and Sustained Blood Pressure Reduction in Intracerebral Hemorrhage Expansion and Functional Outcome.",
- "type": "article-journal",
- "doi": "10.1212/wnl.0000000000209244",
- "authors": [
- ["David", "Rodriguez-Luna"],
- ["Olalla", "Pancorbo"],
- ["Laura", "Llull"],
- ["Yolanda", "Silva"],
- ["Luis", "Prats-Sanchez"],
- ["Mari\u00e1n", "Muchada"],
- ["Salvatore", "Rudilosso"],
- ["Mikel", "Terce\u00f1o"],
- ["Anna", "Ramos-Pach\u00f3n"],
- ["Mar", "Hernandez Guillamon"],
- ["Pilar", "Coscojuela"],
- ["Jordi", "Blasco"],
- ["Santiago", "Perez-Hoyos"],
- ["Angel", "Chamorro"],
- ["Carlos A", "Molina"]
- ],
- "publisher": "Neurology",
- "issn": "1526-632X",
- "date": "2024-04-10",
- "abstract": "The time taken to achieve blood pressure (BP) control could be pivotal in the benefits of reducing BP in acute intracerebral hemorrhage (ICH). We aimed to assess the relationship between the rapid achievement and sustained maintenance of an intensive systolic BP (SBP) target with radiologic, clinical, and functional outcomes.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38598746"
-},
-{
- "id": "pmid:38584008",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38584008",
- "title": "Discrepancies Between Imaging Reports and Operative Findings in Patients With Cloaca: A Call for Expansion of the Mullerian Anomalies Classification.",
- "type": "article-journal",
- "doi": "10.1016/j.jpedsurg.2024.03.018",
- "authors": [
- ["Brielle", "Ochoa"],
- ["Erica M", "Weidler"],
- ["Kathleen", "van Leeuwen"]
- ],
- "publisher": "Journal of pediatric surgery",
- "issn": "1531-5037",
- "date": "2024-03-15",
- "abstract": "There is wide variation in the language used to describe Mullerian structures. To standardize terminology, the American Society of Reproductive Medicine (ASRM) created the Mullerian Anomalies Classification (MAC) in 2021. The objective of this study was to evaluate the applicability of the MAC nomenclature to pediatric patients with cloaca.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38584008"
-},
-{
- "id": "pmid:38470998",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38470998",
- "title": "Cervicofacial Pediatric Tissue Expansion: Aesthetic Unit-Based Algorithm.",
- "type": "article-journal",
- "doi": "10.1097/prs.0000000000011401",
- "authors": [
- ["Christopher D", "Lopez"],
- ["Cynthia T", "Yusuf"],
- ["Alisa O", "Girard"],
- ["Alexander K", "Karius"],
- ["Robin", "Yang"],
- ["Howard", "Wang"],
- ["Richard J", "Redett"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2024-03-12",
- "abstract": "Tissue expansion is a powerful tool in reconstruction of pediatric soft-tissue pathologies, but complication rates in children have been reported to be as high as 40%. Infection and implant extrusion lead to premature removal and delays in reconstruction. Expanding the head and neck is uniquely challenging because the confluence of facial aesthetic units must be respected. These challenges prompted the senior author (R.J.R.) to create an aesthetic unit-based algorithm.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38470998"
-},
-{
- "id": "pmid:38288866",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38288866",
- "title": "Characterization of a Diverse Set of Conditionally Reprogrammed Head and Neck Cancer Cell Cultures.",
- "type": "article-journal",
- "doi": "10.1002/lary.31236",
- "authors": [
- ["Thomas J", "Ow"],
- ["Vikas", "Mehta"],
- ["Daniel", "Li"],
- ["Carlos", "Thomas"],
- ["Nitisha", "Shrivastava"],
- ["Nicole", "Kawachi"],
- ["Adam J", "Gersten"],
- ["Jing", "Zhu"],
- ["Bradley A", "Schiff"],
- ["Richard V", "Smith"],
- ["Gregory", "Rosenblatt"],
- ["Stelby", "Augustine"],
- ["Michael B", "Prystowsky"],
- ["Shanye", "Yin"],
- ["Evripidis", "Gavathiotis"],
- ["Chandan", "Guha"]
- ],
- "publisher": "The Laryngoscope",
- "issn": "1531-4995",
- "date": "2024-01-30",
- "abstract": "To establish and characterize a diverse library of head and neck squamous cell cancer (HNSCC) cultures using conditional reprogramming (CR).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38288866"
-},
-{
- "id": "pmid:38237484",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38237484",
- "title": "Facial soft tissue changes and volumetric analysis of upper airways in patients undergoing surgically assisted rapid maxillary expansion using a transpalatal distractor.",
- "type": "article-journal",
- "doi": "10.1016/j.bjorl.2023.101372",
- "authors": [
- ["Carlos Augusto de Jesus Oliveira", "Gon\u00e7alves"],
- ["Jo\u00e3o de Jesus Viana", "Pinheiro"],
- ["Marcelo Newton", "Carneiro"],
- ["Ana Karla da Silva", "Tabosa"],
- ["Roberto Carlos Rivadeneira", "C\u00e1rdenas"],
- ["Jos\u00e9 Thiers", "Carneiro"]
- ],
- "publisher": "Brazilian journal of otorhinolaryngology",
- "issn": "1808-8686",
- "date": "2023-12-18",
- "abstract": "To verify changes in facial soft tissue using the RadiANT-DICOM-viewer and Dolphin Imaging software, through linear measurements of tomographic points in a 3D reconstruction of the face and volumetric evaluation with three-dimensional measurements of the upper airways of patients with transverse maxillary discrepancy undergoing Surgically Assisted Rapid Maxillary Expansion (SARME).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38237484"
-},
-{
- "id": "pmid:37923670",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37923670",
- "title": "Addressing Veteran Health-Related Social Needs: How Joint Commission Standards Accelerated Integration and Expansion of Tools and Services in the Veterans Health Administration.",
- "type": "article-journal",
- "doi": "10.1016/j.jcjq.2023.10.002",
- "authors": [
- ["Justin M", "List"],
- ["Lauren E", "Russell"],
- ["Leslie R M", "Hausmann"],
- ["Kristine", "Groves"],
- ["Benjamin", "Kligler"],
- ["Jennifer", "Koget"],
- ["Ernest", "Moy"],
- ["Carolyn", "Clancy"]
- ],
- "publisher": "Joint Commission journal on quality and patient safety",
- "issn": "1938-131X",
- "date": "2023-10-10",
- "abstract": "The Joint Commission recently named reduction of health care disparities and improvement of health care equity as quality and safety priorities (Leadership [LD] Standard LD.04.03.08 and National Patient Safety Goal [NPSG] Standard NPSG.16.01.01). As the largest integrated health system, the Veterans Health Administration (VHA) sought to leverage these new accreditation standards to further integrate and expand existing tools and initiatives to reduce health care disparities and address health-related social needs (HRSNs).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37923670"
-},
-{
- "id": "pmid:37772955",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37772955",
- "title": "Posterior Palatal Expansion via Subnasal Endoscopy (2PENN) for Maxillary Deficiency: A Pilot Study.",
- "type": "article-journal",
- "doi": "10.1002/lary.31060",
- "authors": [
- ["Sebastian M", "Jara"],
- ["Eric R", "Thuler"],
- ["Michael J", "Hutz"],
- ["Jason L", "Yu"],
- ["Crystal S", "Cheong"],
- ["Normand", "Boucher"],
- ["Marianna", "Evans"],
- ["Raj C", "Dedhia"]
- ],
- "publisher": "The Laryngoscope",
- "issn": "1531-4995",
- "date": "2023-09-29",
- "abstract": "Surgically assisted rapid palatal expansion (SARPE) addresses transverse maxillary deficiency, a known contributor to nasal obstruction. The purpose of this study was to assess the feasibility, preliminary outcomes, and safety of posterior palatal expansion via subnasal endoscopy (2PENN), a modified SARPE procedure, aimed at achieving anterior and posterior maxillary expansion.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37772955"
-},
-{
- "id": "pmid:37586449",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37586449",
- "title": "Amyloidogenic propensity of self-assembling peptides and their adjuvant potential for use as DNA vaccines.",
- "type": "article-journal",
- "doi": "10.1016/j.actbio.2023.08.015",
- "authors": [
- ["Paresh C", "Shrimali"],
- ["Sheng", "Chen"],
- ["Anirban", "Das"],
- ["Rachel", "Dreher"],
- ["Matthew K", "Howard"],
- ["Jeremy J", "Ryan"],
- ["Jeremy", "Buck"],
- ["Darren", "Kim"],
- ["Macy L", "Sprunger"],
- ["Jai S", "Rudra"],
- ["Meredith E", "Jackrel"]
- ],
- "publisher": "Acta biomaterialia",
- "issn": "1878-7568",
- "date": "2023-08-14",
- "abstract": "De novo designed peptides that self-assemble into cross-\u03b2 rich fibrillar biomaterials have been pursued as an innovative platform for the development of adjuvant- and inflammation-free vaccines. However, they share structural and morphological properties similar to amyloid species implicated in neurodegenerative diseases, which has been a long-standing concern for their successful translation. Here, we comprehensively characterize the amyloidogenic character of the amphipathic self-assembling cross-\u03b2 peptide KFE",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37586449"
-},
-{
- "id": "pmid:37506354",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37506354",
- "title": "Risk Factors for Unplanned Reoperation during the Expansion Phase in Two-Stage Breast Reconstruction in the Dutch Breast Implant Registry.",
- "type": "article-journal",
- "doi": "10.1097/prs.0000000000010945",
- "authors": [
- ["J Juli\u00ebt", "Vrolijk"],
- ["Claudia A", "Bargon"],
- ["Babette E", "Becherer"],
- ["Janneke A", "Wilschut"],
- ["Annelotte C M", "van Bommel"],
- ["Juli\u00ebtte E", "Hommes"],
- ["Xavier H A", "Keuter"],
- ["Danny A", "Young-Afat"],
- ["Helena M", "Verkooijen"],
- ["Ren\u00e9 R J W", "van der Hulst"],
- ["Marc A M", "Mureau"],
- ["Hinne A", "Rakhorst"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2023-07-25",
- "abstract": "The majority of postmastectomy breast reconstructions (PMBRs) are currently performed in two stages using a tissue expander (TE). However, complications during the expansion phase occur regularly, leading to unplanned reoperations and/or reconstruction failure. This study aimed to identify risk factors for unplanned reoperation after TE placement, assessed the time until unplanned and planned reoperation, and investigated indications for unplanned reoperation.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37506354"
-},
-{
- "id": "pmid:37477421",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37477421",
- "title": "Lesion Expansion in Gnathic Fibrous Dysplasia: Natural History, Indicators of Progression, and Response to Bisphosphonates.",
- "type": "article-journal",
- "doi": "10.1002/jbmr.4886",
- "authors": [
- ["Kristen S", "Pan"],
- ["Jocelyn", "Taylor"],
- ["Vivian", "Szymczuk"],
- ["Alison M", "Boyce"]
- ],
- "publisher": "Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research",
- "issn": "1523-4681",
- "date": "2023-07-31",
- "abstract": "Fibrous dysplasia (FD) is characterized by expansile fibro-osseous lesions that may occur in association with endocrinopathies as part of McCune-Albright syndrome (MAS). Craniofacial FD is a significant source of morbidity and most commonly involves the gnathic bones. There is a critical need to understand the natural history and risk factors for gnathic FD progression to develop preventative trials and identify candidates for intervention. The purpose of this study was to characterize gnathic FD lesion expansion and to identify risk factors associated with lesion growth. Patients with gnathic FD and serial CT imaging were evaluated. Volumetric analyses of CT scans were performed using MIM Encore software. Generalized mixed model analysis was used to account for intra-subject correlation, with FD lesion volume as the dependent variable. In addition to age, effects of MAS-associated endocrinopathies, sex, disease severity, and bisphosphonate treatment were evaluated. A total of 104 total lesions in 52 patients were characterized longitudinally. Median age at initial scan was 8.8\u2009years (range 3.4-18.8), and median age at final scan was 16.8\u2009years (range 6.9-33.4\u2009years). The median number of scans per subject was 4 (range 2-14). FD lesion volume increased with age (2.50\u2009cm",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37477421"
-},
{
"id": "pmid:37234925",
"manubot_success": true,
@@ -141294,331 +136212,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37234925"
},
-{
- "id": "pmid:37199432",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37199432",
- "title": "Comparison of Morphometric Outcomes following Open Posterior Expansion versus Endoscopic Strip Craniectomy for Sagittal Synostosis.",
- "type": "article-journal",
- "doi": "10.1097/prs.0000000000010679",
- "authors": [
- ["Leah", "Chen"],
- ["Ezgi", "Mercan"],
- ["Benjamin B", "Massenburg"],
- ["Richard A", "Hopper"],
- ["Srinivas M", "Susarla"],
- ["Amy", "Lee"],
- ["Richard G", "Ellenbogen"],
- ["Craig B", "Birgfeld"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2023-05-12",
- "abstract": "Open middle and posterior cranial vault expansion (OPVE) or endoscopic (ES) strip craniectomy are two surgical techniques for normalization of head shape in isolated sagittal synostosis. This study aims to compare 2-year cranial morphometrics after these two approaches.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37199432"
-},
-{
- "id": "pmid:37158264",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37158264",
- "title": "The Impact of Medicaid Expansion on Head and Neck Malignancies Presentation and Survival.",
- "type": "article-journal",
- "doi": "10.1002/lary.30314",
- "authors": [
- ["Zaid", "Al-Qurayshi"],
- ["Christopher B", "Sullivan"],
- ["Mohamed A", "Shama"],
- ["Nitin A", "Pagedar"],
- ["Emad", "Kandil"]
- ],
- "publisher": "The Laryngoscope",
- "issn": "1531-4995",
- "date": "2022-08-03",
- "abstract": "Under the Affordable Care Act (ACA), Medicaid expansion became effective in states that have adopted it. We aim to examine its impact on head and neck cancers.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37158264"
-},
-{
- "id": "pmid:37068014",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37068014",
- "title": "History repeats itself: Impact of mental illness on violent reinjury and hospital reencounters among female victims of interpersonal violence.",
- "type": "article-journal",
- "doi": "10.1097/ta.0000000000003984",
- "authors": [
- ["Miriam Y", "Neufeld"],
- ["Enzo", "Plaitano"],
- ["Megan G", "Janeway"],
- ["Timothy", "Munzert"],
- ["Dane", "Scantling"],
- ["Lisa", "Allee"],
- ["Sabrina E", "Sanchez"]
- ],
- "publisher": "The journal of trauma and acute care surgery",
- "issn": "2163-0763",
- "date": "2023-04-17",
- "abstract": "Violence-related reinjury impacts both patients and health care systems. Mental illness (MI) is prevalent among violently injured individuals. The relationship between preexisting MI and violent reinjury among women has not been fully characterized. Our objective was to determine if risk of hospital reencounter-violent reinjury and all-cause-was associated with preexisting MI at time of index injury among female victims of violence.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37068014"
-},
-{
- "id": "pmid:36995181",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36995181",
- "title": "Air versus Saline in Initial Prepectoral Tissue Expansion: A Comparison of Complications and Perioperative Patient-Reported Outcomes.",
- "type": "article-journal",
- "doi": "10.1097/prs.0000000000010478",
- "authors": [
- ["Ethan L", "Plotsker"],
- ["Michelle R", "Coriddi"],
- ["Robyn N", "Rubenstein"],
- ["Jacqueline J", "Chu"],
- ["Kathryn", "Haglich"],
- ["Joseph J", "Disa"],
- ["Evan", "Matros"],
- ["Joseph H", "Dayan"],
- ["Robert J", "Allen"],
- ["Jonas A", "Nelson"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2023-09-28",
- "abstract": "One option to optimize prepectoral tissue expander fill volume while minimizing stress on mastectomy skin flaps is to use air as an initial fill medium, with subsequent exchange to saline during postoperative expansion. The authors compared complications and early patient-reported outcomes (PROs) based on fill type in prepectoral breast reconstruction patients.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36995181"
-},
-{
- "id": "pmid:36815599",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36815599",
- "title": "Comparison of CPAP and Expansion Sphincter Pharyngoplasty using the Mean Disease Alleviation Concept.",
- "type": "article-journal",
- "doi": "10.1002/lary.30613",
- "authors": [
- ["Michele", "Fiorella"],
- ["Maria", "Armache"],
- ["Elizabeth", "Scott"],
- ["Julianna", "Rodin"],
- ["Maurits", "Boon"],
- ["Colin", "Huntley"]
- ],
- "publisher": "The Laryngoscope",
- "issn": "1531-4995",
- "date": "2023-02-23",
- "abstract": "Continuous Positive Airway Pressure (CPAP) is the typical first treatment for Obstructive Sleep Apnea (OSA); however, patient adherence is often suboptimal. Expansion Sphincter Pharyngoplasty (ESP) is an alternative treatment option for patients with OSA who demonstrate signs of palatal and lateral pharyngeal collapse. The aim of this study is to compare therapeutic outcomes, using the mean disease alleviation concept, for patients who underwent ESP to patients undergoing CPAP therapy.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36815599"
-},
-{
- "id": "pmid:36754271",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36754271",
- "title": "In vitro expansion of hematopoietic stem cells in a porous hydrogel-based 3D culture system.",
- "type": "article-journal",
- "doi": "10.1016/j.actbio.2023.01.057",
- "authors": [
- ["Bangheng", "Liu"],
- ["Min", "Jin"],
- ["Dong-An", "Wang"]
- ],
- "publisher": "Acta biomaterialia",
- "issn": "1878-7568",
- "date": "2023-02-07",
- "abstract": "Hematopoietic stem cell (HSC) transplantation remains the most effective therapy for hematologic and lymphoid disorders. However, as the primary therapeutic cells, the source of HSCs has been limited due to the scarcity of matched donors and difficulties in ex vivo expansion. Here, we described a facile method to attempt the expansion of HSCs in vitro through a porous alginate hydrogel-based 3D culture system. We used gelatin powders as the porogen to create submillimeter-scaled pores in alginate gel bulk while pre-embedding na\u00efve HSCs in the gel phase. The results indicated that this porous hydrogel system performed significantly better than those cultured via conventional suspension or encapsulation in non-porous alginate hydrogels in maintaining the phenotype and renewability of HSCs. Only the porous hydrogel system achieved a two-fold growth of CD34+ cells within seven days of culture, while the number of CD34+ cells in the suspension system and nonporous hydrogel showed different degrees of attenuation. The expansion efficiency of the porous hydrogel for CD34+CD38- cells was more than 2.2 times that of the other two systems. Mechanistic study via biophysical analysis revealed that the porous alginate system was competent to reduce the electron capture caused by biomaterials, decrease cellular oxygen stress, avoid oxidative protection, thus maintaining the cellular phenotype of the CD34+ cells. The transcriptomic analysis further suggested that the porous alginate system also upregulated the TNF signaling pathway and activated the NF-\u03baB signaling pathway to promote the CD34+ cells' survival and maintain cellular homeostasis so that renewability was substantially favoured. STATEMENT OF SIGNIFICANCE: \u2022 The reported porous hydrogel system performs significantly better in terms of maintaining the phenotype and renewability of HSCs than those cultured via conventional suspension or encapsulation in non-porous alginate hydrogel. \u2022 The reported porous alginate system is competent to reduce the electron capture caused by biomaterials, decrease cellular oxygen stress, avoid oxidative protection, and therefore maintain the cellular phenotype of the CD34+ cells. \u2022 The reported porous alginate system can also upregulate the TNF signaling pathway and activate the NF-\u03baB signaling pathway to promote the CD34+ cells' survival and maintain cellular homeostasis so that the renewability is substantially favored..",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36754271"
-},
-{
- "id": "pmid:36730425",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36730425",
- "title": "Two-Center Review of Posterior Vault Expansion following a Staged or Expectant Treatment of Crouzon and Apert Craniosynostosis.",
- "type": "article-journal",
- "doi": "10.1097/prs.0000000000009925",
- "authors": [
- ["Richard W F", "Breakey"],
- ["Ezgi", "Mercan"],
- ["Lara S", "van de Lande"],
- ["Jai", "Sidpra"],
- ["Craig", "Birgfeld"],
- ["Amy", "Lee"],
- ["Silvia", "Schievano"],
- ["David J", "Dunaway"],
- ["N Owase", "Jeelani"],
- ["Richard A", "Hopper"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2022-11-22",
- "abstract": "The timing of posterior cranial expansion for the management of intracranial pressure can be \"staged\" by age and dysmorphology or \"expectant\" by pressure monitoring. The authors report shared outcome measures from one center performing posterior vault remodeling (PCVR) or distraction (PVDO) following a staged approach and another performing spring-assisted expansion (SAPVE) following an expectant protocol.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36730425"
-},
-{
- "id": "pmid:36729778",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36729778",
- "title": "The Treatment of Complex Extremity Wounds Using External Tissue Expansion: A Case Series.",
- "type": "article-journal",
- "doi": "10.1097/prs.0000000000010015",
- "authors": [
- ["Peter Y W", "Chan"],
- ["Chris", "Michel"],
- ["Anthony F", "Colon"],
- ["James", "Clune"],
- ["Ajul", "Shah"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2022-12-09",
- "abstract": "The goal of wound reconstruction is the approximation of soft tissue and re-establishment of an acceptable appearance with minimal risk of complications. For large wound closure in the extremities, skin graft and flap reconstruction are common treatments but are associated with a variety of complications. Comparatively, tissue expansion can provide the opportunity to reconstruct large wounds with native, durable, and sensate tissue without significant donor site morbidity. External tissue expansion is less invasive and avoids complications associated with internal expansion. The authors treated 11 patients with varying extremity wound types and sizes with an external tissue expansion device. Patient age ranged from 18 to 68 years with an average age of 43.7 years (SD, \u00b1 13.1 years). Average wound surface area was approximately 235 cm 2 (SD, \u00b1 135.3 cm 2 ). Devices were affixed and left for 7 to 11 days before closure of the wounds. Outcomes were assessed at 2 to 36 weeks postoperative follow-up. All wounds were fully closed after treatment without need for secondary reconstructive procedures. No patient experienced major complications. All patients demonstrated intact sensation within the area of reconstruction equivalent to surrounding tissues. External tissue expansion, an excellent treatment option in extremity reconstruction, is efficacious and associated with lower complication rates compared with internal tissue expansion, skin grafts, and flap reconstruction.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36729778"
-},
-{
- "id": "pmid:36729760",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36729760",
- "title": "Morphometric Outcomes of Nonsyndromic Sagittal Synostosis following Open Middle and Posterior Cranial Vault Expansion.",
- "type": "article-journal",
- "doi": "10.1097/prs.0000000000010008",
- "authors": [
- ["Benjamin B", "Massenburg"],
- ["Ezgi", "Mercan"],
- ["Elizabeth", "Shepard"],
- ["Craig B", "Birgfeld"],
- ["Srinivas M", "Susarla"],
- ["Amy", "Lee"],
- ["Richard G", "Ellenbogen"],
- ["Richard A", "Hopper"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2022-12-09",
- "abstract": "This study aimed to quantify the change in three-dimensional skull morphometrics for patients with sagittal synostosis at presentation, after surgery, and at 2-year follow-up.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36729760"
-},
-{
- "id": "pmid:36727707",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36727707",
- "title": "Autologous Concentrated Growth Factor Increases Skin Thickness and Area during Tissue Expansion: A Randomized Clinical Trial.",
- "type": "article-journal",
- "doi": "10.1097/prs.0000000000010227",
- "authors": [
- ["Poh-Ching", "Tan"],
- ["Pei-Qi", "Zhang"],
- ["Shuang-Bai", "Zhou"],
- ["Jizhou", "He"],
- ["Jia", "Qian"],
- ["Ru-Lin", "Huang"],
- ["Zhi-Yue", "Zhang"],
- ["Chen", "Cheng"],
- ["Qingfeng", "Li"],
- ["Yun", "Xie"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2023-01-24",
- "abstract": "Mechanical stretching of the skin (ie, tissue expansion) could generate additional skin, but it is limited by the intrinsic growth capacity. The authors conducted a study of autologous concentrated growth factor (CGF) to promote skin regeneration by increasing skin thickness and area during tissue expansion.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36727707"
-},
-{
- "id": "pmid:36723980",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36723980",
- "title": "Secondary Breast Reconstruction in Irradiated Patients: Prospective Trial Comparing DIEP to Brava Expansion and Fat Transplantation.",
- "type": "article-journal",
- "doi": "10.1097/prs.0000000000010250",
- "authors": [
- ["Anadi", "Begic"],
- ["Jukka", "Tolli"],
- ["Wenche", "Hegard"],
- ["Birgit", "Stark"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2023-02-01",
- "abstract": "Autologous tissue reconstruction of the breast is preferable after irradiation. Fat transplantation is a possible alternative. The aim of this prospective trial was to compare outcomes of deep inferior epigastric perforator (DIEP) flaps to Brava expansion and fat grafting, after mastectomy and irradiation.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36723980"
-},
-{
- "id": "pmid:36360320",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36360320",
- "title": "Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11.2 Deletion Syndrome: Genotype-Phenotype Correlation.",
- "type": "article-journal",
- "doi": "10.3390/genes13112083",
- "authors": [
- ["Eva-Cristiana", "Gavril"],
- ["Roxana", "Popescu"],
- ["Irina", "Nuc\u0103"],
- ["Cristian-Gabriel", "Ciobanu"],
- ["L\u0103cr\u0103mioara Ionela", "Butnariu"],
- ["Cristina", "Rusu"],
- ["Monica-Cristina", "P\u00e2nzaru"]
- ],
- "publisher": "Genes",
- "issn": "2073-4425",
- "date": "2022-11-10",
- "abstract": "The most frequent microdeletion, 22q11.2 deletion syndrome (22q11.2DS), has a wide and variable phenotype that causes difficulties in diagnosis. 22q11.2DS is a contiguous gene syndrome, but due to the existence of several low-copy-number repeat sequences (LCR) it displays a high variety of deletion types: typical deletions LCR A-D-the most common (~90%), proximal deletions LCR A-B, central deletions (LCR B, C-D) and distal deletions (LCR D-E, F).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36360320"
-},
-{
- "id": "pmid:36263464",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36263464",
- "title": "Noninvasive Soft Tissue Expansion Strips and Wound Complications After Total Ankle Arthroplasty.",
- "type": "article-journal",
- "doi": "10.1177/10711007221120024",
- "authors": [
- ["Stephen Blake", "Wallace"],
- ["Mary", "Hamati"],
- ["James Alexander", "Lendrum"],
- ["Lindsey", "Schultz"],
- ["Joshua", "Metzl"],
- ["Daniel K", "Moon"],
- ["Kenneth J", "Hunt"]
- ],
- "publisher": "Foot & ankle international",
- "issn": "1944-7876",
- "date": "2022-10-19",
- "abstract": "Total ankle arthroplasty through the anterior approach (TAR-AA) is an increasingly popular treatment for ankle arthritis, but it carries a known risk for wound complications. Several products have been investigated to mitigate this risk; however, most are either costly or invasive. Noninvasive skin expansion strips (NSESs) were designed to transfer tension away from the incision and induce new skin growth at the edges of the strips. We hypothesize that postoperative application of NSESs will decrease unplanned clinic visits and wound complications after TAR-AA.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36263464"
-},
-{
- "id": "pmid:36228893",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36228893",
- "title": "Xiehuo Xiaoying decoction inhibits Tfh cell expansion and promotes Tfr cell amplification to ameliorate Graves' disease.",
- "type": "article-journal",
- "doi": "10.1016/j.jep.2022.115826",
- "authors": [
- ["Pingping", "Xiang"],
- ["Yunnan", "Zhang"],
- ["Xiaoyang", "Qu"],
- ["Yu", "Chen"],
- ["Yijiao", "Xu"],
- ["Xingjia", "Li"],
- ["Xiao", "Wei"],
- ["Xin", "Hu"],
- ["Ronglin", "Zhong"],
- ["Chao", "Liu"],
- ["Fenxia", "Zhu"]
- ],
- "publisher": "Journal of ethnopharmacology",
- "issn": "1872-7573",
- "date": "2022-10-11",
- "abstract": "Xiehuo Xiaoying decoction (XHXY) has shown great potential in the treatment of GD, but its mechanism remains obscure. Increase of follicular helper T (Tfh) cells and reduction of follicular regulatory T (Tfr) cells contribute to a high thyrotropin receptor antibodies (TRAb) level and possible Graves' disease (GD). Oxidative stress (OS) disrupts T helper cell differentiation and aggravates autoimmunity.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36228893"
-},
{
"id": "pmid:35971992",
"manubot_success": true,
@@ -141691,52 +136284,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35868859"
},
-{
- "id": "pmid:35780010",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35780010",
- "title": "A clinical trial on 3D CT scan and polysomnographyc changes after rapid maxillary expansion in children with snoring.",
- "type": "article-journal",
- "doi": "10.1016/j.bjorl.2022.04.004",
- "authors": [
- ["Rita Catia Br\u00e1s", "Bariani"],
- ["Renato", "Bigliazzi"],
- ["Fauze Ramez", "Badreddine"],
- ["Lucia Hatsue", "Yamamoto"],
- ["Sergio", "Tufik"],
- ["Gustavo", "Moreira"],
- ["Reginaldo Raimundo", "Fujita"]
- ],
- "publisher": "Brazilian journal of otorhinolaryngology",
- "issn": "1808-8686",
- "date": "2022-05-20",
- "abstract": "The present prospective clinical study aimed to investigate the effects of rapid maxillary expansion on the airway, correlating airway volumes obtained on multi-slice computed tomography and polysomnography assessment of oxygen saturation and apnea/hypopnea index.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35780010"
-},
-{
- "id": "pmid:35671452",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35671452",
- "title": "Ten Years of Posterior Cranial Vault Expansion by Means of Distraction Osteogenesis: An Update and Critical Evaluation.",
- "type": "article-journal",
- "doi": "10.1097/prs.0000000000009336",
- "authors": [
- ["Laura S", "Humphries"],
- ["Zachary D", "Zapatero"],
- ["Giap H", "Vu"],
- ["Ian", "Hoppe"],
- ["Jordan W", "Swanson"],
- ["Scott P", "Bartlett"],
- ["Jesse A", "Taylor"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2022-06-08",
- "abstract": "The goal of this study was to describe the 10-year evolution of the authors' surgical technique and institutional perioperative outcomes using posterior vault distraction osteogenesis (PVDO) in patients with syndromic and multisuture craniosynostosis.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35671452"
-},
{
"id": "pmid:35481544",
"manubot_success": true,
@@ -141772,49 +136319,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35481544"
},
-{
- "id": "pmid:35241386",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35241386",
- "title": "Three-dimensional image study of accelerated maxillary expansion in oral breathing kids.",
- "type": "article-journal",
- "doi": "10.1016/j.bjorl.2022.01.007",
- "authors": [
- ["Fauze Ramez", "Badreddine"],
- ["Lucia Hatsue", "Yamamoto"],
- ["Andre", "Besen"],
- ["Daniela Pimentel Machado Ren\u00f3fio", "Hoppe"],
- ["Reginaldo Raimundo", "Fujita"],
- ["Mario", "Cappellette Junior"]
- ],
- "publisher": "Brazilian journal of otorhinolaryngology",
- "issn": "1808-8686",
- "date": "2022-02-15",
- "abstract": "To evaluate, by a three-dimensional study, the volumetric and integumentary effects of rapid maxillary expansion on the nose, in mouth breathing kids with maxillary hypoplasia, in the short term, assessing the possible interference of gender, growth and age on the results achieved.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35241386"
-},
-{
- "id": "pmid:35147223",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35147223",
- "title": "Impact of Medicaid Expansion on Rhinologic Cancer Presentation, Treatment, and Outcomes.",
- "type": "article-journal",
- "doi": "10.1002/lary.30049",
- "authors": [
- ["Alexandria L", "Irace"],
- ["Rahul K", "Sharma"],
- ["Timothy L", "Smith"],
- ["Michael G", "Stewart"],
- ["David A", "Gudis"]
- ],
- "publisher": "The Laryngoscope",
- "issn": "1531-4995",
- "date": "2022-02-11",
- "abstract": "The United States Patient Protection and Affordable Care Act allocated funds for states to expand Medicaid coverage. However, several states declined expansion. We aim to determine whether Medicaid expansion is associated with healthcare coverage, cancer stage at diagnosis, treatment, and survival among patients with rhinologic cancer. Rhinologic cancer was defined to include cancer of the nasal cavity, paranasal sinus, nasopharynx, or olfactory nerve.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35147223"
-},
{
"id": "pmid:38835428",
"manubot_success": true,
@@ -141834,131 +136338,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38835428"
},
-{
- "id": "pmid:34936109",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34936109",
- "title": "Anterior Palatoplasty With Expansion Sphincter Pharyngoplasty for All Type of Pharyngeal Collapse.",
- "type": "article-journal",
- "doi": "10.1002/lary.29999",
- "authors": [
- ["Ejder", "Ci\u011fer"],
- ["Akif", "\u0130\u015flek"]
- ],
- "publisher": "The Laryngoscope",
- "issn": "1531-4995",
- "date": "2021-12-22",
- "abstract": "This study was aimed to compare the efficiency of the anterior palatoplasty and expansion sphincter pharyngoplasty (APwESP) technique for all patterns of velopharyngeal obstruction (anterior-posterior [APPC], lateral [LPC], or combined circular pharyngeal collapse [CPC]).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34936109"
-},
-{
- "id": "pmid:34894761",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34894761",
- "title": "Time Matters: Knee Cartilage Defect Expansion and High-Grade Lesion Formation while Awaiting Autologous Chondrocyte Implantation.",
- "type": "article-journal",
- "doi": "10.1177/19476035211063866",
- "authors": [
- ["Robert J", "Pettit"],
- ["Joshua S", "Everhart"],
- ["Alex C", "DiBartola"],
- ["Ryan E", "Blackwell"],
- ["David C", "Flanigan"]
- ],
- "publisher": "Cartilage",
- "issn": "1947-6043",
- "date": "2021-12-11",
- "abstract": "The objective of this study was to assess potential risk factors, including time delay until implantation, for knee cartilage defect expansion or new high-grade defect formation between biopsy and Autologous Chondrocyte Implantation (ACI) or Matrix Autologous Chondrocyte Implantation (MACI).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34894761"
-},
-{
- "id": "pmid:34784705",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34784705",
- "title": "Comparative Cohort Study for Expansion of Lateral Recess and Facet Joint Injury after Biportal Endoscopic Ipsilateral Decompression and Contralateral Decompression.",
- "type": "article-journal",
- "doi": "10.31616/asj.2020.0656",
- "authors": [
- ["Yip-Kan", "Yeung"],
- ["Cheol-Woong", "Park"],
- ["Su Gi", "Jun"],
- ["Jung-Hoon", "Park"],
- ["Andy Choi-Yeung", "Tse"]
- ],
- "publisher": "Asian spine journal",
- "issn": "1976-1902",
- "date": "2021-11-18",
- "abstract": "This was a retrospective longitudinal study of patients operated on consecutively in a single center from May to October 2019.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34784705"
-},
-{
- "id": "pmid:34705783",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34705783",
- "title": "Two- and Three-Segment Surgically Assisted Rapid Maxillary Expansion: A Clinical Trial.",
- "type": "article-journal",
- "doi": "10.1097/prs.0000000000008491",
- "authors": [
- ["Gabriela P R", "Prado"],
- ["Alexandre F", "Koga"],
- ["Fabianne M G P", "Furtado"],
- ["Lydia M", "Ferreira"],
- ["Max D", "Pereira"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2021-11-01",
- "abstract": "The literature shows no consensus on whether two- or three-segment surgically assisted rapid maxillary expansion is the best operative technique.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34705783"
-},
-{
- "id": "pmid:34678485",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34678485",
- "title": "Ectopic expansion and vascularization of engineered hepatic tissue based on heparinized acellular liver matrix and mesenchymal stromal cell spheroids.",
- "type": "article-journal",
- "doi": "10.1016/j.actbio.2021.10.017",
- "authors": [
- ["Qiong", "Wu"],
- ["Yi", "Li"],
- ["Zhen", "Yang"],
- ["Li", "Li"],
- ["Jian", "Yang"],
- ["Xinglong", "Zhu"],
- ["Yong", "Liu"],
- ["Ji", "Bao"],
- ["Hong", "Bu"]
- ],
- "publisher": "Acta biomaterialia",
- "issn": "1878-7568",
- "date": "2021-10-19",
- "abstract": "Engineered liver organogenesis is not yet a viable therapeutic option, but ectopic liver histogenesis may be possible. Accumulating evidence has suggested that cell-cell interactions and cell-matrix interactions play an important role in determining the properties of engineered hepatic tissue in vitro and in vivo. In the current study, we utilized heparinized decellularized liver scaffolds and bone marrow mesenchymal stromal cell spheroids to fabricate engineered hepatic tissue, which was subsequently implanted into the omentum of Sprague-Dawley rats with or without liver injury. The survival, liver-specific functions, differentiation level and regenerative potential of the implanted hepatocyte-like cells in this ectopic liver system were evaluated, together with the vascularization status and therapeutic potential of the engineered hepatic tissue. We demonstrated that these hepatic grafts could survive and possess hepatocyte specific function in this ectopic liver system but could also efficiently anastomose with host vascular networks. Furthermore, we found that hepatocyte-like cells within grafts expanded more than 9-fold over the course of 4 weeks in immunocompetent rats with injured livers. Immunostaining revealed that these hepatocyte-like cells could self-organize into cord-like structures in vivo. In addition, these hepatic grafts exhibited therapeutic potential in liver injury induced by CCl",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34678485"
-},
-{
- "id": "pmid:34479662",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34479662",
- "title": "Rapid maxillary expansion may increase the upper airway volume of growing patients with maxillary transverse deficiency.",
- "type": "article-journal",
- "doi": "10.1016/j.jebdp.2021.101579",
- "authors": [
- ["Tingting", "Zhao"],
- ["Fang", "Hua"],
- ["Hong", "He"]
- ],
- "publisher": "The journal of evidence-based dental practice",
- "issn": "1532-3390",
- "date": "2021-04-29",
- "abstract": "Niu X, Di Carlo G, Cornelis MA, Cattaneo PM. Three-dimensional analyses of short- and long-term effects of rapid maxillary expansion on nasal cavity and upper airway: A systematic review and meta-analysis. Orthod Craniofac Res. 2020 Aug;23(3):250-276. doi: 10.1111/ocr.12378. Epub 2020 May 5. PMID: 32248642.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34479662"
-},
{
"id": "pmid:34250228",
"manubot_success": true,
@@ -141992,141 +136371,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34250228"
},
-{
- "id": "pmid:34142115",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34142115",
- "title": "Parameters of poor prognosis in preimplantation genetic testing for monogenic disorders.",
- "type": "article-journal",
- "doi": "10.1093/humrep/deab136",
- "authors": [
- ["A", "Van Der Kelen"],
- ["S", "Santos-Ribeiro"],
- ["A", "De Vos"],
- ["P", "Verdyck"],
- ["M", "De Rycke"],
- ["V", "Berckmoes"],
- ["H", "Tournaye"],
- ["C", "Blockeel"],
- ["M", "De Vos"],
- ["F J", "Hes"],
- ["K", "Keymolen"],
- ["W", "Verpoest"]
- ],
- "publisher": "Human reproduction (Oxford, England)",
- "issn": "1460-2350",
- "date": "2021-08-18",
- "abstract": "What is the likelihood of success of a single cycle of preimplantation genetic testing for monogenic disorders (PGT-M), measured as the cumulative live birth rate (CLBR) and based on various patient demographics?",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34142115"
-},
-{
- "id": "pmid:34100102",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34100102",
- "title": "Quantitative Analysis of Nipple to Inframammary Fold Distance Variation in Tuberous Breast Augmentation: Is there a Progressive Lower Pole Expansion?",
- "type": "article-journal",
- "doi": "10.1007/s00266-021-02363-8",
- "authors": [
- ["Stefano", "Avvedimento"],
- ["Paolo", "Montemurro"],
- ["Emanuele", "Cigna"],
- ["Antonio", "Guastafierro"],
- ["Barbara", "Cagli"],
- ["Adriano", "Santorelli"]
- ],
- "publisher": "Aesthetic plastic surgery",
- "issn": "1432-5241",
- "date": "2021-06-07",
- "abstract": "In patients with short nipple to inframammary fold (N-IMF) distance, as in tuberous breast, the cohesivity and gel distribution of shaped implants work as a controlled tissue expander, progressively adapting the tissues to the implant's shape. This phenomenon translates into a gradual increase of the N-IMF distance over time, but the true extent to which this occurs has not been quantified to date. This study aims to quantify the postoperative variation of the N-IMF distance in tuberous breast treated with shaped cohesive silicone breast implants.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34100102"
-},
-{
- "id": "pmid:33960508",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33960508",
- "title": "The expansion of no-touch harvesting sequential vein graft after off-pump coronary artery bypass grafting.",
- "type": "article-journal",
- "doi": "10.1111/jocs.15577",
- "authors": [
- ["Xuejian", "Hou"],
- ["Kui", "Zhang"],
- ["Taoshuai", "Liu"],
- ["Yang", "Li"],
- ["Yang", "Zhao"],
- ["Bangrong", "Song"],
- ["Zhuhui", "Huang"],
- ["Shijun", "Xu"],
- ["Jubing", "Zheng"],
- ["Ran", "Dong"]
- ],
- "publisher": "Journal of cardiac surgery",
- "issn": "1540-8191",
- "date": "2021-05-07",
- "abstract": "Many studies support that the no-touch (NT) procedure can improve the patency rate of vein grafts. However, it is not clear that the sequential vein graft early expansion in the NT technique during off-pump coronary artery bypass grafting (CABG). This study will explore this issue.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33960508"
-},
-{
- "id": "pmid:33364417",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33364417",
- "title": "Hyoid expansion with titanium plate and screws with hyomandibular suspension: A study on human cadavers with computed tomographic comparative analysis.",
- "type": "article-journal",
- "doi": "10.1002/lio2.476",
- "authors": [
- ["Adele Chin Wei", "Ng"],
- ["Parag Ratnakar", "Salkade"],
- ["Mahalakshmi", "Rangabashyam"],
- ["Shaun Ray Han", "Loh"],
- ["Song Tar", "Toh"]
- ],
- "publisher": "Laryngoscope investigative otolaryngology",
- "issn": "2378-8038",
- "date": "2020-10-21",
- "abstract": "Obstructive sleep apnoea is characterized by repetitive obstruction of the upper airway during sleep. These repeated oxygen desaturations increase cardiovascular and cerebrovascular morbidity and mortality significantly. Upper airway surgery is an option for patients who fail continuous positive airway pressure therapy. Airway collapse is usually multilevel and hypopharyngeal collapse is a challenging area to address. It is hypothesized that hyoid expansion with hyomandibular suspension can potentially increase upper airway dimensions at the hypopharynx. This study aims to document the effect of hyoid expansion using titanium plate and screws with hyomandibular suspension on hypopharyngeal airway dimensions. It is an anatomical feasibility study performed using 10 human cadaver heads.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33364417"
-},
-{
- "id": "pmid:32473799",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/32473799",
- "title": "Alternate Rapid Maxillary Expansion and Constriction (Alt-RAMEC) May Be More Effective Than Rapid Maxillary Expansion Alone for Protraction Facial Mask Treatment.",
- "type": "article-journal",
- "doi": "10.1016/j.jebdp.2020.101408",
- "authors": [
- ["Tingting", "Zhao"],
- ["Fang", "Hua"],
- ["Hong", "He"]
- ],
- "publisher": "The journal of evidence-based dental practice",
- "issn": "1532-3390",
- "date": "2020-02-20",
- "abstract": "The effectiveness of Alt-RAMEC combined with maxillary protraction in the treatment of patients with a class III malocclusion: a systematic review and meta-analysis, Mohammed Almuzian, Elise McConnell, M. Ali Darendeliler, Fahad Alharbi & Hisham Mohammed. J Orthod 2018;45(4);250-9.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32473799"
-},
-{
- "id": "pmid:32191360",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/32191360",
- "title": "ABO blood type compatibility is not a risk factor for gestational\u00a0trophoblastic neoplasia development from androgenetic complete\u00a0hydatidiform moles.",
- "type": "article-journal",
- "doi": "10.1111/aji.13237",
- "authors": [
- ["Asuka", "Sato"],
- ["Hirokazu", "Usui"],
- ["Makio", "Shozu"]
- ],
- "publisher": "American journal of reproductive immunology (New York, N.Y. : 1989)",
- "issn": "1600-0897",
- "date": "2020-04-08",
- "abstract": "Complete hydatidiform moles (CHMs) are allografts to patients in terms of an androgenetic origin. Thus, some immunological reactions may be involved in the development of gestational trophoblastic neoplasia (GTN) from CHMs. This study aimed to evaluate the effect of ABO blood group on the prognosis of androgenetic CHMs.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32191360"
-},
{
"id": "pmid:32152096",
"manubot_success": true,
@@ -142142,1560 +136386,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32152096"
},
-{
- "id": "pmid:32106286",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/32106286",
- "title": "Endometriotic cell culture contamination and authenticity: a source of bias in in vitro research?",
- "type": "article-journal",
- "doi": "10.1093/humrep/dez266",
- "authors": [
- ["Andrea", "Romano"],
- ["Sofia", "Xanthoulea"],
- ["Elisa", "Giacomini"],
- ["Bert", "Delvoux"],
- ["Eugenia", "Alleva"],
- ["Paola", "Vigano"]
- ],
- "publisher": "Human reproduction (Oxford, England)",
- "issn": "1460-2350",
- "date": "2020-02-29",
- "abstract": "Are the primary cell cultures and cell lines used in endometriosis research of sufficient quality?",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32106286"
-},
-{
- "id": "pmid:32097320",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/32097320",
- "title": "Pediatric Tissue Expansion: Predictors of Premature Expander Removal in a Single Surgeon's Experience with 472 Expanders.",
- "type": "article-journal",
- "doi": "10.1097/prs.0000000000006550",
- "authors": [
- ["Howard D", "Wang"],
- ["Zuhaib", "Ibrahim"],
- ["Amy", "Quan"],
- ["Jennifer", "Bai"],
- ["Benjamin T", "Ostrander"],
- ["Richard J", "Redett"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2020-03-01",
- "abstract": "Tissue expansion is used for soft-tissue reconstruction in pediatric patients. The expansion process can be complicated by infection and extrusion, leading to premature expander removal. The aim of this study was to identify risk factors associated with premature expander removal caused by infection or extrusion in pediatric patients.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32097320"
-},
-{
- "id": "pmid:31565729",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/31565729",
- "title": "Isoform-specific involvement of Brpf1 in expansion of adult hematopoietic stem and progenitor cells.",
- "type": "article-journal",
- "doi": "10.1093/jmcb/mjz092",
- "authors": [
- ["Qiuping", "He"],
- ["Mengzhi", "Hong"],
- ["Jincan", "He"],
- ["Weixin", "Chen"],
- ["Meng", "Zhao"],
- ["Wei", "Zhao"]
- ],
- "publisher": "Journal of molecular cell biology",
- "issn": "1759-4685",
- "date": "2020-06-11",
- "abstract": "Bromodomain-containing proteins are known readers of histone acetylation that regulate chromatin structure and transcription. Although the functions of bromodomain-containing proteins in development, homeostasis, and disease states have been well studied, their role in self-renewal of hematopoietic stem and progenitor cells (HSPCs) remains poorly understood. Here, we performed a chemical screen using nine bromodomain inhibitors and found that the bromodomain and PHD finger-containing protein 1 (Brpf1) inhibitor OF-1 enhanced the expansion of Lin-Sca-1+c-Kit+ HSPCs ex vivo without skewing their lineage differentiation potential. Importantly, our results also revealed distinct functions of Brpf1 isoforms in HSPCs. Brpf1b promoted the expansion of HSPCs. By contrast, Brpf1a is the most abundant isoform in adult HSPCs but enhanced HSPC quiescence and decreased the HSPC expansion. Furthermore, inhibition of Brpf1a by OF-1 promoted histone acetylation and chromatin accessibility leading to increased expression of self-renewal-related genes (e.g. Mn1). The phenotypes produced by OF-1 treatment can be rescued by suppression of Mn1 in HSPCs. Our findings demonstrate that this novel bromodomain inhibitor OF-1 can promote the clinical application of HSPCs in transplantation.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31565729"
-},
-{
- "id": "pmid:31565541",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/31565541",
- "title": "Noninvasive Prenatal Diagnostics: Recent Developments Using Circulating Fetal Nucleated Cells.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["Chen", "Pin-Jung"],
- ["Teng", "Pai-Chi"],
- ["Yazhen", "Zhu"],
- ["Yu", "Jen Jan"],
- ["Matthew", "Smalley"],
- ["Yalda", "Afshar"],
- ["Chen", "Li-Ching"],
- ["Margareta D", "Pisarska"],
- ["Tseng", "Hsian-Rong"]
- ],
- "publisher": "Current obstetrics and gynecology reports",
- "issn": "2161-3303",
- "date": "2019-01-21",
- "abstract": "The purpose of this review is to highlight recent research advances in noninvasive prenatal diagnostic methods.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31565541"
-},
-{
- "id": "pmid:31524838",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/31524838",
- "title": "Lifting the burden: State Medicaid expansion reduces financial risk for the injured.",
- "type": "article-journal",
- "doi": "10.1097/ta.0000000000002493",
- "authors": [
- ["John W", "Scott"],
- ["Mark G", "Shrime"],
- ["Barclay T", "Stewart"],
- ["Saman", "Arbabi"],
- ["Eileen M", "Bulger"],
- ["Joseph", "Cuschieri"],
- ["Ronald V", "Maier"],
- ["Bryce R H", "Robinson"]
- ],
- "publisher": "The journal of trauma and acute care surgery",
- "issn": "2163-0763",
- "date": "2020-01-01",
- "abstract": "Injuries are unanticipated and can be expensive to treat. Patients without sufficient health insurance are at risk for financial strain because of high out-of-pocket (OOP) health care costs relative to their income. We hypothesized that the 2014 Medicaid expansion (ME) in Washington (WA) state, which extended coverage to more than 600,000 WA residents, was associated with a reduction in financial risk among trauma patients.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31524838"
-},
-{
- "id": "pmid:31524835",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/31524835",
- "title": "The impact of Medicaid expansion on trauma-related emergency department utilization: A national evaluation of policy implications.",
- "type": "article-journal",
- "doi": "10.1097/ta.0000000000002504",
- "authors": [
- ["Lisa Marie", "Knowlton"],
- ["Melody S", "Dehghan"],
- ["Katherine", "Arnow"],
- ["Amber W", "Trickey"],
- ["Lakshika", "Tennakoon"],
- ["Arden M", "Morris"],
- ["David A", "Spain"]
- ],
- "publisher": "The journal of trauma and acute care surgery",
- "issn": "2163-0763",
- "date": "2020-01-01",
- "abstract": "The impact of the 2014 Affordable Care Act (ACA) upon national trauma-related emergency department (ED) utilization is unknown. We assessed ACA-related changes in ED use and payer mix, hypothesizing that post-ACA ED visits would decline and Medicaid coverage would increase disproportionately in regions of widespread policy adoption.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31524835"
-},
-{
- "id": "pmid:31495486",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/31495486",
- "title": "The Effect of Expansion Thoracostomy on Spine Growth in Patients with\u00a0Spinal Deformity and Fused Ribs Treated with Rib-Based Growing\u00a0Constructs.",
- "type": "article-journal",
- "doi": "10.1016/j.jspd.2019.01.004",
- "authors": [
- ["Fady J", "Baky"],
- ["A Noelle", "Larson"],
- ["Tricia", "St Hilaire"],
- ["Jeff", "Pawelek"],
- ["David L", "Skaggs"],
- ["John B", "Emans"],
- ["Joshua M", "Pahys"]
- ],
- "publisher": "Spine deformity",
- "issn": "2212-1358",
- "date": "2019-09-01",
- "abstract": "Retrospective review of prospective registries.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31495486"
-},
-{
- "id": "pmid:31348326",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/31348326",
- "title": "Reducing Expansion Visits in Immediate Implant-Based Breast Reconstruction: A Comparative Study of Prepectoral and Subpectoral Expander Placement.",
- "type": "article-journal",
- "doi": "10.1097/prs.0000000000005791",
- "authors": [
- ["Blair A", "Wormer"],
- ["Al C", "Valmadrid"],
- ["Nishant", "Ganesh Kumar"],
- ["Salam", "Al Kassis"],
- ["Timothy M", "Rankin"],
- ["Christodoulos", "Kaoutzanis"],
- ["Kent K", "Higdon"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2019-08-01",
- "abstract": "The numerous office visits required to complete expansion in implant-based breast reconstruction impact patient satisfaction, office resources, and time to complete reconstruction. This study aimed to determine whether prepectoral compared to subpectoral immediate implant-based breast reconstruction offers expedited tissue expansion without affecting complication rates.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31348326"
-},
-{
- "id": "pmid:31243505",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/31243505",
- "title": "Medial meniscus posterior root tear causes swelling of the medial meniscus and expansion of the extruded meniscus: a comparative analysis between 2D and 3D MRI.",
- "type": "article-journal",
- "doi": "10.1007/s00167-019-05580-6",
- "authors": [
- ["Yoshiki", "Okazaki"],
- ["Takayuki", "Furumatsu"],
- ["Takuya", "Yamaguchi"],
- ["Yuya", "Kodama"],
- ["Yusuke", "Kamatsuki"],
- ["Shin", "Masuda"],
- ["Yuki", "Okazaki"],
- ["Takaaki", "Hiranaka"],
- ["Ximing", "Zhang"],
- ["Toshifumi", "Ozaki"]
- ],
- "publisher": "Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA",
- "issn": "1433-7347",
- "date": "2019-06-26",
- "abstract": "This study aimed to clarify the advantages of three-dimensional (3D) magnetic resonance imaging (MRI) over two-dimensional (2D) MRI in measuring the size of the medial meniscus (MM) and to analyse the volumes of MM and the extruded meniscus in patients with MM posterior root tear (MMPRT), at 10\u00b0 and 90\u00b0 knee flexion.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31243505"
-},
-{
- "id": "pmid:31188473",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/31188473",
- "title": "Barbed palatoplasty vs. expansion sphincter pharyngoplasty with anterior palatoplasty.",
- "type": "article-journal",
- "doi": "10.1002/lary.28136",
- "authors": [
- ["Mehmet Ali", "Babademez"],
- ["Fatih", "Gul"],
- ["Yagmur Canan", "Teleke"]
- ],
- "publisher": "The Laryngoscope",
- "issn": "1531-4995",
- "date": "2019-06-12",
- "abstract": "To compare the functional outcomes and complication rates in patients who underwent expansion sphincter pharyngoplasty with anterior palatoplasty (ESPwAP) versus barbed pharyngoplasty (BP).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31188473"
-},
-{
- "id": "pmid:30937342",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30937342",
- "title": "Relaxin 2 carried by magnetically directed liposomes accelerates rat midpalatal suture expansion and subsequent new bone formation.",
- "type": "article-journal",
- "doi": "10.1016/j.bonr.2019.100202",
- "authors": [
- ["Hiroyuki", "Kamimoto"],
- ["Yukiho", "Kobayashi"],
- ["Keiji", "Moriyama"]
- ],
- "publisher": "Bone reports",
- "issn": "2352-1872",
- "date": "2019-03-14",
- "abstract": "Relaxin (RLN) is an insulin-like peptide hormone that enables softening and lengthening of the pubic symphysis and uterine cervix. Here, we analyzed the effects of RLN2 on the expansion of rat midpalatal suture (MPS) using a magnetically directed liposome-based drug delivery system. Thirty-six male rats were divided into three groups: control (MPS was not expanded), lipo (expanded for 1\u202fweek with vehicle liposomes encapsulating ferric oxide and Cy5.5), and RLN-lipo (expanded for 1\u202fweek with the liposomes coated with RLN2). Rats were sacrificed after 1\u202fweek of expansion or after 2\u202fweeks of retention. To accumulate RLN2-liposomes, a magnetic sheet was fixed to the palatal mucosa of the MPS.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30937342"
-},
-{
- "id": "pmid:30927425",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30927425",
- "title": "Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease.",
- "type": "article-journal",
- "doi": "10.1093/humrep/dez027",
- "authors": [
- ["V", "Berckmoes"],
- ["P", "Verdyck"],
- ["P", "De Becker"],
- ["A", "De Vos"],
- ["G", "Verheyen"],
- ["P", "Van der Niepen"],
- ["W", "Verpoest"],
- ["I", "Liebaers"],
- ["M", "Bonduelle"],
- ["K", "Keymolen"],
- ["M", "De Rycke"]
- ],
- "publisher": "Human reproduction (Oxford, England)",
- "issn": "1460-2350",
- "date": "2019-05-01",
- "abstract": "What are the factors influencing the success rate for couples undergoing preimplantation genetic testing (PGT) for polycystic kidney disease (PKD)?",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30927425"
-},
-{
- "id": "pmid:30694984",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30694984",
- "title": "Impact of Affordable Care Act-related insurance expansion policies on mortality and access to post-discharge care for trauma patients: an analysis of the National Trauma Data Bank.",
- "type": "article-journal",
- "doi": "10.1097/ta.0000000000002117",
- "authors": [
- ["John W", "Scott"],
- ["Pooja U", "Neiman"],
- ["Tarsicio", "Uribe-Leitz"],
- ["Kirstin W", "Scott"],
- ["Cheryl K", "Zogg"],
- ["Ali", "Salim"],
- ["Adil H", "Haider"]
- ],
- "publisher": "The journal of trauma and acute care surgery",
- "issn": "2163-0763",
- "date": "2019-02-01",
- "abstract": "Uninsured trauma patients have worse outcomes and worse access to post-discharge care that is critically important for recovery after injury. Little is known regarding the impact of the insurance coverage expansion policies of the Affordable Care Act (ACA), most notably state-level Medicaid expansion, on trauma patients. In this study, we examine the national impact of these policies on payer mix, inpatient mortality, and access to post-acute care for trauma patients.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30694984"
-},
-{
- "id": "pmid:30301609",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30301609",
- "title": "Tissue expansion in pediatric patients: a 10-year review.",
- "type": "article-journal",
- "doi": "10.1016/j.jpedsurg.2018.09.002",
- "authors": [
- ["Lindsay A", "Bjornson"],
- ["Marija", "Bucevska"],
- ["Cynthia", "Verchere"]
- ],
- "publisher": "Journal of pediatric surgery",
- "issn": "1531-5037",
- "date": "2018-09-18",
- "abstract": "Tissue expansion complication rates up to 40% have been reported in the pediatric population. This study aims to review one Canadian pediatric plastic surgeon's experience with tissue expansion by examining tissue expander and flap complication rates, and discussing important aspects of the tissue expansion experience.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30301609"
-},
-{
- "id": "pmid:30269341",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30269341",
- "title": "Differentiation of Clavibacter michiganensis subsp. sepedonicus using PCR melting profile and variable number of tandem repeat methods.",
- "type": "article-journal",
- "doi": "10.1111/lam.13081",
- "authors": [
- ["A", "\u017baczek"],
- ["K", "Stru\u015b"],
- ["A", "Soko\u0142owska"],
- ["P", "Parniewski"],
- ["A", "Wojtasik"],
- ["J", "Dziadek"]
- ],
- "publisher": "Letters in applied microbiology",
- "issn": "1472-765X",
- "date": "2018-11-13",
- "abstract": "The potato phytopathogen Clavibacter michiganensis subsp. sepedonicus (Cms) is a causative agent of bacterial ring rot, which is a serious threat to crops. In EU member countries, Cms is subject to quarantine and has to be combated. The knowledge about the transmission of C. michiganensis strains is limited due to a lack of methods which could be used for epidemiological analysis. In this study, PCR melting profile (PCR MP) and variable number tandem repeat methods were used in Cms epidemiological analysis for the first time. PCR MP was based on the melting temperature analysis of BamHI restriction fragments of chromosomal DNA. Respectively, for the variable number tandem repeat (VNTR) method, six loci were identified and used in the differentiation of Cms isolates. PCR MP was used for 93 Cms isolated in Poland. Both PCR MP and VNTR methods were used for the differentiation of 47 Cms strains in this collection. Both these methods were found to be useful for the epidemiological analysis of Cms. SIGNIFICANCE AND IMPACT OF THE STUDY: The potato phytopathogen, Clavibacter michiganensis subsp. sepedonicus (Cms), is a serious threat to crops and lead to significant economic losses. The only way to control and eliminate the disease caused by this pathogen is the use of certified seed potato and strict quarantine of infected fields. Here, for the first time, two molecular typing methods (PCR melting profile (PCR MP) and variable number tandem repeat (VNTR)) were evaluated in respect of their potential in differentiation of Cms isolates. As a result, we obtained characteristic profiles of DNA fragments (PCR MP) and numeric patterns (VNTR), which enable the intraspecies genotyping of Cms strains confirming the effectiveness of PCR MP and VNTR methods in differentiation of Cms strains.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30269341"
-},
-{
- "id": "pmid:30148780",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30148780",
- "title": "Salvaging the Unavoidable: A Review of Complications in Pediatric Tissue Expansion.",
- "type": "article-journal",
- "doi": "10.1097/prs.0000000000004650",
- "authors": [
- ["Arun K", "Gosain"],
- ["Sergey Y", "Turin"],
- ["Harvey", "Chim"],
- ["John A", "LoGiudice"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2018-09-01",
- "abstract": "Tissue expansion, while a mainstay of reconstruction for pediatric cutaneous lesions, has significant complication rates. The authors review the complications in a single-surgeon series of tissue expansion to identify risk factors for complications and guide subsequent therapy so that reconstructive goals in patients can be met irrespective of intervening complications.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30148780"
-},
-{
- "id": "pmid:29985869",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29985869",
- "title": "Expansion Thoracoplasty in Rabbit Model: Effect of Timing on Preserving Pulmonary Growth and Correcting Spine Deformity.",
- "type": "article-journal",
- "doi": "10.1097/brs.0000000000002573",
- "authors": [
- ["J Casey", "Olson"],
- ["Michael P", "Glotzbecker"],
- ["Ayuko", "Takahashi"],
- ["Hemal P", "Mehta"],
- ["Brian D", "Snyder"]
- ],
- "publisher": "Spine",
- "issn": "1528-1159",
- "date": "2018-08-01",
- "abstract": "In a treatment-control animal study expansion thoracoplasty (ET) was performed in a juvenile rabbit model of thoracic insufficiency syndrome (TIS) and benefits to thoracic development and respiratory function quantified. Rabbits treated early versus late were compared to age-matched normal and disease control rabbits through to skeletal maturity.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29985869"
-},
-{
- "id": "pmid:29794706",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29794706",
- "title": "External Port Tissue Expansion in the Pediatric Population: Confirming Its Safety and Efficacy.",
- "type": "article-journal",
- "doi": "10.1097/prs.0000000000004372",
- "authors": [
- ["Beina", "Azadgoli"],
- ["Artur", "Fahradyan"],
- ["Erik M", "Wolfswinkel"],
- ["Michaela", "Tsuha"],
- ["William", "Magee"],
- ["Jeffrey A", "Hammoudeh"],
- ["Mark M", "Urata"],
- ["Lori K", "Howell"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2018-06-01",
- "abstract": "External filling ports in tissue expander-based reconstruction have the advantages of being associated with less pain and emotional distress. However, among practicing surgeons using tissue expansion, a theoretical concern remains regarding higher risk of infection. The authors' goal was to evaluate external port safety in the pediatric population by looking at the complications and overall success rate of reconstruction.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29794706"
-},
-{
- "id": "pmid:29775730",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29775730",
- "title": "An integrated biomanufacturing platform for the large-scale expansion and neuronal differentiation of human pluripotent stem cell-derived neural progenitor cells.",
- "type": "article-journal",
- "doi": "10.1016/j.actbio.2018.05.008",
- "authors": [
- ["Gayathri", "Srinivasan"],
- ["Daylin", "Morgan"],
- ["Divya", "Varun"],
- ["Nicholas", "Brookhouser"],
- ["David A", "Brafman"]
- ],
- "publisher": "Acta biomaterialia",
- "issn": "1878-7568",
- "date": "2018-05-15",
- "abstract": "Human pluripotent stem cell derived neural progenitor cells (hNPCs) have the unique properties of long-term in vitro expansion as well as differentiation into the various neurons and supporting cell types of the central nervous system (CNS). Because of these characteristics, hNPCs have tremendous potential in the modeling and treatment of various CNS diseases and disorders. However, expansion and neuronal differentiation of hNPCs in quantities necessary for these applications is not possible with current two dimensional (2-D) approaches. Here, we used a fully defined peptide substrate as the basis for a microcarrier (MC)-based suspension culture system. Several independently derived hNPC lines were cultured on MCs for multiple passages as well as efficiently differentiated to neurons. Finally, this MC-based system was used in conjunction with a low shear rotating wall vessel (RWV) bioreactor for the integrated, large-scale expansion and neuronal differentiation of hNPCs. Overall, this fully defined and scalable biomanufacturing system will facilitate the generation of hNPCs and their neuronal derivatives in quantities necessary for basic and translational applications.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29775730"
-},
-{
- "id": "pmid:29689351",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29689351",
- "title": "The fruits of Gleditsia sinensis Lam. inhibits adipogenesis through modulation of mitotic clonal expansion and STAT3 activation in 3T3-L1 cells.",
- "type": "article-journal",
- "doi": "10.1016/j.jep.2018.04.020",
- "authors": [
- ["Ji-Hye", "Lee"],
- ["Younghoon", "Go"],
- ["Bonggi", "Lee"],
- ["Youn-Hwan", "Hwang"],
- ["Kwang Il", "Park"],
- ["Won-Kyung", "Cho"],
- ["Jin Yeul", "Ma"]
- ],
- "publisher": "Journal of ethnopharmacology",
- "issn": "1872-7573",
- "date": "2018-04-22",
- "abstract": "Gleditsia sinensis Lam. (G. sinensis) has been used in Oriental medicine for tumor, thrombosis, inflammation-related disease, and obesity.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29689351"
-},
-{
- "id": "pmid:29622993",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29622993",
- "title": "Stent boost enhancement compared to intravascular ultrasound in the evaluation of stent expansion in elective percutaneous coronary interventions.",
- "type": "article-journal",
- "doi": "10.1016/j.ehj.2017.09.001",
- "authors": [
- ["Mohamed", "Laimoud"],
- ["Yasser", "Nassar"],
- ["Walid", "Omar"],
- ["Akram", "Abdelbarry"],
- ["Helmy", "Elghawaby"]
- ],
- "publisher": "The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology",
- "issn": "2090-911X",
- "date": "2017-10-25",
- "abstract": "Stent underexpansion is a major risk factor for in-stent restenosis and acute in-stent thrombosis",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29622993"
-},
-{
- "id": "pmid:29518587",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29518587",
- "title": "Ultrasound-Guided Carpal Tunnel Release Using Dynamic Expansion of the Transverse Safe Zone in a Patient With Postpolio Syndrome: A Case Report.",
- "type": "article-journal",
- "doi": "10.1016/j.pmrj.2018.02.016",
- "authors": [
- ["Troy", "Henning"],
- ["Daniel", "Lueders"],
- ["Kate", "Chang"],
- ["Lynda", "Yang"]
- ],
- "publisher": "PM & R : the journal of injury, function, and rehabilitation",
- "issn": "1934-1563",
- "date": "2018-03-06",
- "abstract": "The prevalence of carpal tunnel syndrome (CTS) in patients with postpolio syndrome occurs at a rate of 22%. Irrespective of those with CTS, 74% of postpolio patients weight bear through their arms for ambulation or transfers. As open carpal tunnel release is performed along the weight-bearing region of the wrist, their functional independence may be altered while recovering. This case demonstrates that ultrasound-guided carpal tunnel release was successfully performed in a patient with postpolio syndrome allowing him to immediately weight bear through his hands after the procedure so he could recover at home. LEVEL OF EVIDENCE: V.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29518587"
-},
-{
- "id": "pmid:29173777",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29173777",
- "title": "Surgical excision is the treatment of choice for cervical lymphatic malformations with mediastinal expansion.",
- "type": "article-journal",
- "doi": "10.1016/j.jpedsurg.2017.10.048",
- "authors": [
- ["Nader", "Ghaffarpour"],
- ["Carmen Mesas", "Burgos"],
- ["Tomas", "Wester"]
- ],
- "publisher": "Journal of pediatric surgery",
- "issn": "1531-5037",
- "date": "2017-10-16",
- "abstract": "Lymphatic malformations (LMs) in the mediastinum are uncommon. However, cervical LMs may expand into the mediastinum. The aim of this study was to review our experience with the management of patients with LMs involving the mediastinum and to propose a treatment algorithm to guide the management of these rare malformations.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29173777"
-},
-{
- "id": "pmid:29040358",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29040358",
- "title": "Tissue Expansion Using Hyaluronic Acid Filler for Single-Stage Ear Reconstruction: A Novel Concept for Difficult Areas.",
- "type": "article-journal",
- "doi": "10.1093/asj/sjx119",
- "authors": [
- ["Amir", "Inbal"],
- ["Benjamin T", "Lemelman"],
- ["Eran", "Millet"],
- ["Andrew", "Greensmith"]
- ],
- "publisher": "Aesthetic surgery journal",
- "issn": "1527-330X",
- "date": "2017-10-16",
- "abstract": "Auricular reconstruction is one of the most challenging procedures in plastic surgery. An adequate skin envelope is essential for cartilage framework coverage, yet few good options exist without additional surgery. We propose a novel method for minimally invasive tissue expansion, using hyaluronic acid (HA) filler to allow for single-stage ear reconstruction.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29040358"
-},
-{
- "id": "pmid:29036023",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29036023",
- "title": "Percutaneous Mesh Expansion: A Regenerative Wound Closure Alternative.",
- "type": "article-journal",
- "doi": "10.1097/prs.0000000000004052",
- "authors": [
- ["Kimberly S", "Khouri"],
- ["Eufemiano", "Cardoso"],
- ["Roger K", "Khouri"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2018-02-01",
- "abstract": "Puncture wounds in the 1-mm range usually heal without scars. Stacking rows of these punctures offers a scarless method to generate tissue by mesh expansion. The authors developed a percutaneous mesh expansion procedure and present their experience for its wound closure application.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29036023"
-},
-{
- "id": "pmid:28863085",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/28863085",
- "title": "Early chemoprophylaxis is associated with decreased venous thromboembolism risk without concomitant increase in intraspinal hematoma expansion after traumatic spinal cord injury.",
- "type": "article-journal",
- "doi": "10.1097/ta.0000000000001675",
- "authors": [
- ["Ronald", "Chang"],
- ["Michelle H", "Scerbo"],
- ["Karl M", "Schmitt"],
- ["Sasha D", "Adams"],
- ["Timothy J", "Choi"],
- ["Charles E", "Wade"],
- ["John B", "Holcomb"]
- ],
- "publisher": "The journal of trauma and acute care surgery",
- "issn": "2163-0763",
- "date": "2017-12-01",
- "abstract": "After traumatic spinal cord injury (SCI), there is increased risk of venous thromboembolism (VTE), but chemoprophylaxis (PPX) may cause expansion of intraspinal hematoma (ISH).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28863085"
-},
-{
- "id": "pmid:28760619",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/28760619",
- "title": "Gamma-irradiated human amniotic membrane decellularised with sodium dodecyl sulfate is a more efficient substrate for the ex vivo expansion of limbal stem cells.",
- "type": "article-journal",
- "doi": "10.1016/j.actbio.2017.07.041",
- "authors": [
- ["G S", "Figueiredo"],
- ["S", "Bojic"],
- ["P", "Rooney"],
- ["S-P", "Wilshaw"],
- ["C J", "Connon"],
- ["R M", "Gouveia"],
- ["C", "Paterson"],
- ["G", "Lepert"],
- ["H S", "Mudhar"],
- ["F C", "Figueiredo"],
- ["M", "Lako"]
- ],
- "publisher": "Acta biomaterialia",
- "issn": "1878-7568",
- "date": "2017-07-29",
- "abstract": "The gold standard substrate for the ex vivo expansion of human limbal stem cells (LSCs) remains the human amniotic membrane (HAM) but this is not a defined substrate and is subject to biological variability and the potential to transmit disease. To better define HAM and mitigate the risk of disease transmission, we sought to determine if decellularisation and/or \u03b3-irradiation have an adverse effect on culture growth and LSC phenotype. Ex vivo limbal explant cultures were set up on fresh HAM, HAM decellularised with 0.5M NaOH, and 0.5% (w/v) sodium dodecyl sulfate (SDS) with or without \u03b3-irradiation. Explant growth rate was measured and LSC phenotype was characterised by histology, immunostaining and qRT-PCR (ABCG2, \u0394Np63, Ki67, CK12, and CK13). \u01b3-irradiation marginally stiffened HAM, as measured by Brillouin spectromicroscopy. HAM stiffness and \u03b3-irradiation did not significantly affect the LSC phenotype, however LSCs expanded significantly faster on \u01b3-irradiated SDS decellularised HAM (p<0.05) which was also corroborated by the highest expression of Ki67 and putative LSC marker, ABCG2. Colony forming efficiency assays showed a greater yield and proportion of holoclones in cells cultured on \u01b3-irradiated SDS decellularised HAM. Together our data indicate that SDS decellularised HAM may be a more efficacious substrate for the expansion of LSCs and the use of a \u03b3-irradiated HAM allows the user to start the manufacturing process with a sterile substrate, potentially making it safer.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28760619"
-},
-{
- "id": "pmid:28486682",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/28486682",
- "title": "Do different maxillary expansion appliances influence the outcomes of the treatment?",
- "type": "article-journal",
- "doi": "10.1093/ejo/cjx035",
- "authors": [
- ["Muteb", "Algharbi"],
- ["Farhan", "Bazargani"],
- ["Lillemor", "Dimberg"]
- ],
- "publisher": "European journal of orthodontics",
- "issn": "1460-2210",
- "date": "2018-01-23",
- "abstract": "There is no consensus in the literature regarding which rapid maxillary expansion (RME) design or activation rate benefits the patients the most. Therefore, the primary aim of this systematic review was to see whether there is a difference in the skeletal and dentoalveolar effects of different RME appliances in children and growing adolescents. The secondary aim was to see whether these effects are different when using different activation protocols for these appliances.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28486682"
-},
-{
- "id": "pmid:28431415",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/28431415",
- "title": "Potential impact of Affordable Care Act-related insurance expansion on trauma care reimbursement.",
- "type": "article-journal",
- "doi": "10.1097/ta.0000000000001400",
- "authors": [
- ["John W", "Scott"],
- ["Pooja U", "Neiman"],
- ["Peter A", "Najjar"],
- ["Thomas C", "Tsai"],
- ["Kirstin W", "Scott"],
- ["Mark G", "Shrime"],
- ["David M", "Cutler"],
- ["Ali", "Salim"],
- ["Adil H", "Haider"]
- ],
- "publisher": "The journal of trauma and acute care surgery",
- "issn": "2163-0763",
- "date": "2017-05-01",
- "abstract": "Nearly one quarter of trauma patients are uninsured and hospitals recoup less than 20% of inpatient costs for their care. This study examines changes to hospital reimbursement for inpatient trauma care if the full coverage expansion provisions of the Affordable Care Act (ACA) were in effect.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28431415"
-},
-{
- "id": "pmid:28328563",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/28328563",
- "title": "Patients Without Intraoperative Neuromonitoring (IONM) Alerts During VEPTR Implantation Did Not Sustain Neurological Injury During Subsequent Routine Expansions: A Retrospective Multicenter Cohort Study.",
- "type": "article-journal",
- "doi": "10.1097/bpo.0000000000000976",
- "authors": [
- ["Jaren", "LaGreca"],
- ["Tara", "Flynn"],
- ["Patrick J", "Cahill"],
- ["Amer", "Samdani"],
- ["Michael G", "Vitale"],
- ["Ron", "El-Hawary"],
- ["John T", "Smith"],
- ["Jonathan H", "Phillips"],
- ["John M", "Flynn"],
- ["Michael", "Glotzbecker"],
- ["Sumeet", "Garg"]
- ],
- "publisher": "Journal of pediatric orthopedics",
- "issn": "1539-2570",
- "date": "2017-12-01",
- "abstract": "The purpose of this study was to determine the rate of intraoperative neurological monitoring (IONM) alerts and neurological injury during vertical expandable prosthetic titanium rib (VEPTR) treatment and evaluate the utility of IONM during VEPTR expansion procedures in patients who have not previously had neurological injury or IONM alerts.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28328563"
-},
-{
- "id": "pmid:27879582",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27879582",
- "title": "Carbon Dioxide-Based versus Saline Tissue Expansion for Breast Reconstruction: Results of the XPAND Prospective, Randomized Clinical Trial.",
- "type": "article-journal",
- "doi": "10.1097/prs.0000000000002784",
- "authors": [
- ["Jeffrey A", "Ascherman"],
- ["Kamakshi", "Zeidler"],
- ["Kerry A", "Morrison"],
- ["James Z", "Appel"],
- ["R L", "Berkowitz"],
- ["John", "Castle"],
- ["Amy", "Colwell"],
- ["Yoon", "Chun"],
- ["Debra", "Johnson"],
- ["Khashayar", "Mohebali"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2016-12-01",
- "abstract": "AeroForm is a new type of remote-controlled, needle-free, carbon dioxide-based expander involving a potentially faster method of tissue expansion. Results are presented here from the AirXpanders Patient Activated Controlled Tissue Expander pivotal trial comparing AeroForm to saline tissue expanders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27879582"
-},
-{
- "id": "pmid:27769601",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27769601",
- "title": "Radiographic evaluation of vessel count and density with quantitative magnetic resonance imaging during external breast expansion in Asian women: A prospective clinical trial.",
- "type": "article-journal",
- "doi": "10.1016/j.bjps.2016.09.019",
- "authors": [
- ["Yujin", "Myung"],
- ["Heeyeon", "Kwon"],
- ["Changsik", "Pak"],
- ["Hobin", "Lee"],
- ["Jae Hoon", "Jeong"],
- ["Chan Yeong", "Heo"]
- ],
- "publisher": "Journal of plastic, reconstructive & aesthetic surgery : JPRAS",
- "issn": "1878-0539",
- "date": "2016-09-28",
- "abstract": "Breast augmentation with fat transfer does not bear the risks associated with silicone implantation. The method can potentially be especially useful in Asian women, who often reject augmentation mammoplasty with implants. This prospective clinical trial evaluated the effects of external breast expansion on breast density and vessel count using magnetic resonance imaging.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27769601"
-},
-{
- "id": "pmid:27718315",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27718315",
- "title": "Comparison by multilocus variable-number tandem repeat analysis and antimicrobial resistance among atypical enteropathogenic Escherichia coli strains isolated from food samples and human and animal faecal specimens.",
- "type": "article-journal",
- "doi": "10.1111/jam.13322",
- "authors": [
- ["L", "Wang"],
- ["H", "Nakamura"],
- ["E", "Kage-Nakadai"],
- ["Y", "Hara-Kudo"],
- ["Y", "Nishikawa"]
- ],
- "publisher": "Journal of applied microbiology",
- "issn": "1365-2672",
- "date": "2016-11-21",
- "abstract": "This study assessed whether multilocus variable-number tandem repeat analysis (MLVA) and antimicrobial susceptibility testing discriminated diarrhoeagenic atypical enteropathogenic Escherichia coli (aEPEC) from aEPEC indigenous to domestic animals or healthy people.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27718315"
-},
-{
- "id": "pmid:27192775",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27192775",
- "title": "ASSOCIATION BETWEEN A pMAH135 PLASMID AND THE PROGRESSION OF PULMONARY DISEASE CAUSED BY MYCOBACTERIUM AVIUM.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["Makoto", "Moriyama"],
- ["Kenji", "Ogawa"],
- ["Taku", "Nakagawa"],
- ["Toshiaki", "Nikai"],
- ["Kei-ichi", "Uchiya"]
- ],
- "publisher": "Kekkaku : [Tuberculosis]",
- "issn": "0022-9776",
- "date": "2016-01-01",
- "abstract": "Pulmonary disease caused by nontuberculous mycobacteria has a variable clinical course. Although this is possibly the result of not only host factors, but also bacterial factors, many questions remain to be answered regarding these manifestations.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27192775"
-},
-{
- "id": "pmid:26368328",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/26368328",
- "title": "First Vault Expansion in Apert and Crouzon-Pfeiffer Syndromes: Front or Back?",
- "type": "article-journal",
- "doi": "10.1097/prs.0000000000001894",
- "authors": [
- ["Bart", "Spruijt"],
- ["Bianca F M", "Rijken"],
- ["Bianca K", "den Ottelander"],
- ["Koen F M", "Joosten"],
- ["Maarten H", "Lequin"],
- ["Sjoukje E", "Loudon"],
- ["Marie-Lise C", "van Veelen"],
- ["Irene M J", "Mathijssen"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2016-01-01",
- "abstract": "Children with Apert and Crouzon-Pfeiffer syndromes are at risk of intracranial hypertension. Until 2005, when the authors switched to occipital expansion, their institution's preferred treatment was fronto-orbital advancement. However, it was still unclear whether (1) occipitofrontal head circumference (i.e., intracranial volume) was greater after occipital expansion than after fronto-orbital advancement; (2) the incidences of tonsillar herniation and papilledema were lower; and (3) visual acuity was better during follow-up. In these patients, the authors therefore compared fronto-orbital advancement with occipital expansion as the first surgical procedure.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26368328"
-},
-{
- "id": "pmid:26331141",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/26331141",
- "title": "Rapid Palatal Expansion to Treat Nocturnal Enuretic Children: a Systematic Review and Meta-Analysis.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["Karim", "Poorsattar-Bejeh Mir"],
- ["Arash", "Poorsattar-Bejeh Mir"],
- ["Morvarid", "Poorsattar-Bejeh Mir"],
- ["Maziar", "Moradi-Lakeh"],
- ["Pouya", "Balmeh"],
- ["Kamran", "Nosrati"]
- ],
- "publisher": "Journal of dentistry (Shiraz, Iran)",
- "issn": "2345-6485",
- "date": "2015-09-01",
- "abstract": "Refractory nocturnal enuresis possesses a heavy psychosocial burden for the affected child. Only a 15% spontaneous annual cure rate is reported.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26331141"
-},
-{
- "id": "pmid:26296638",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/26296638",
- "title": "Changing the Donor Site Selection Concept of Facial Skin Expansion from Pure Healthy Tissue to Defect and Healthy Tissue Combination.",
- "type": "article-journal",
- "doi": "10.1007/s00266-015-0547-z",
- "authors": [
- ["Sinan", "\u00d6ks\u00fcz"],
- ["Murat \u015eahin", "Alag\u00f6z"],
- ["Ersin", "\u00dclk\u00fcr"]
- ],
- "publisher": "Aesthetic plastic surgery",
- "issn": "1432-5241",
- "date": "2015-08-22",
- "abstract": "Facial defect reconstruction is a challenge for plastic surgeons due to unique esthetic and functional properties of the region. Facial tissue expansion provides an ideal reconstruction resource. However, the donor site is limited in the facial region. Thus, a cost-effective expansion management is crucial for an efficient reconstruction. In this article, the evolution of our donor site preference for tissue expansion from pure healthy tissue to a defect-healthy tissue combination is presented. Fifteen patients underwent skin reconstruction with local tissue expansion for facial and cervical defects. The full facial or cervical region including the defect and healthy tissue combination was determined as the donor expansion site. The donor site was not limited only to pure healthy tissue. The largest size rectangular expander suitable for the combined expandable donor site size was placed under the defect and healthy tissue border, paying attention to carry the expander far beneath the defect site. The defect site and most adjacent healthy tissue were expanded simultaneously. Major complications such as infection, hematoma, rupture, or flap necrosis were not observed. The expansion of defect-healthy tissue border presented successful reconstruction results with acceptable scars. In the traditional tissue expansion concept, using a large size expander to provide more abundant flap gain does not comply with the limited size of healthy donor site in the face. Expanding the whole facial region, without restriction of the defect, supplies excess donor tissue area for larger size expander use. Eventually, defect-healthy tissue border expansion with large expanders results in minimum final scar and less tissue loss in flap relocation and enables optimal flap gain. This method can easily be adapted to any tissue expansion site of the body.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26296638"
-},
-{
- "id": "pmid:26277377",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/26277377",
- "title": "Degree of bioresorbable vascular scaffold expansion modulates loss of essential function.",
- "type": "article-journal",
- "doi": "10.1016/j.actbio.2015.08.009",
- "authors": [
- ["Jahid", "Ferdous"],
- ["Vijaya B", "Kolachalama"],
- ["Kumaran", "Kolandaivelu"],
- ["Tarek", "Shazly"]
- ],
- "publisher": "Acta biomaterialia",
- "issn": "1878-7568",
- "date": "2015-08-12",
- "abstract": "Drug-eluting bioresorbable vascular scaffolds (BVSs) have the potential to restore lumen patency, enable recovery of the native vascular environment, and circumvent late complications associated with permanent endovascular devices. To ensure therapeutic effects persist for sufficient times prior to scaffold resorption and resultant functional loss, many factors dictating BVS performance must be identified, characterized and optimized. While some factors relate to BVS design and manufacturing, others depend on device deployment and intrinsic vascular properties. Importantly, these factors interact and cannot be considered in isolation. The objective of this study is to quantify the extent to which degree of radial expansion modulates BVS performance, specifically in the context of modifying device erosion kinetics and evolution of structural mechanics and local drug elution. We systematically varied degree of radial expansion in model BVS constructs composed of poly dl-lactide-glycolide and generated in vitro metrics of device microstructure, degradation, erosion, mechanics and drug release. Experimental data permitted development of computational models that predicted transient concentrations of scaffold-derived soluble species and drug in the arterial wall, thus enabling speculation on the short- and long-term effects of differential expansion. We demonstrate that degree of expansion significantly affects scaffold properties critical to functionality, underscoring its relevance in BVS design and optimization.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26277377"
-},
-{
- "id": "pmid:30473920",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30473920",
- "title": "Expansion Thoracoplasty for Thoracic Insufficiency Syndrome Associated with Jarcho-Levin Syndrome.",
- "type": "article-journal",
- "doi": "10.2106/jbjs.st.n.00017",
- "authors": [
- ["Ajeya P", "Joshi"],
- ["Megan K", "Roth"],
- ["James W", "Simmons"],
- ["Felix", "Shardonofsky"],
- ["Robert M", "Campbell"]
- ],
- "publisher": "JBJS essential surgical techniques",
- "issn": "2160-2204",
- "date": "2015-06-24",
- "abstract": "Although surgical treatment of spondylothoracic dysplasia (STD) is controversial, we have found that an expansion thoracoplasty using a Vertical Expandable Prosthetic Titanium Rib (VEPTR; DePuy Synthes) results in favorable outcomes, including 100% survivability (at an average follow-up of 6.2 years), increased thoracic spinal length, and decreased requirements for ventilation support.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30473920"
-},
-{
- "id": "pmid:25724062",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/25724062",
- "title": "Volumetric changes in cranial vault expansion: comparison of fronto-orbital advancement and posterior cranial vault distraction osteogenesis.",
- "type": "article-journal",
- "doi": "10.1097/prs.0000000000001294",
- "authors": [
- ["Christopher A", "Derderian"],
- ["Jason D", "Wink"],
- ["Jennifer L", "McGrath"],
- ["Amy", "Collinsworth"],
- ["Scott P", "Bartlett"],
- ["Jesse A", "Taylor"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2015-06-01",
- "abstract": "Posterior cranial vault distraction osteogenesis has recently been introduced to treat patients with multisuture syndromic craniosynostosis and is believed to provide greater gains in intracranial volume. This study provides volumetric analysis to determine the gains in intracranial volume produced by this modality.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25724062"
-},
-{
- "id": "pmid:25539309",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/25539309",
- "title": "Armadillo cranioplasty for expansion and remodeling in craniosynostosis.",
- "type": "article-journal",
- "doi": "10.1097/prs.0000000000000830",
- "authors": [
- ["Stephen R", "Sullivan"],
- ["Helena O", "Taylor"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2015-01-01",
- "abstract": "Craniosynostosis is typically treated in the first year of life, when osteogenic potential is high and residual obligate skull defects heal. Delayed reconstruction can result in persistent skull defects because of diminished osteogenic potential. Adequately expanding the cranium yet minimizing residual skull defects in older patients presents a conundrum. Although secondary cranioplasty can be performed, primary cortical bone coverage is preferred. The authors present a technique of cranial expansion by sliding stairstep osteotomies, thus preventing residual skull defects when treating craniosynostosis at an advanced age.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25539309"
-},
-{
- "id": "pmid:25442329",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/25442329",
- "title": "Multiple-locus variable-number tandem-repeat analysis of Francisella tularensis from Quebec, Canada.",
- "type": "article-journal",
- "doi": "10.1111/lam.12371",
- "authors": [
- ["K S", "Antonation"],
- ["S", "Bekal"],
- ["G", "C\u00f4t\u00e9"],
- ["A", "Dallaire"],
- ["C R", "Corbett"]
- ],
- "publisher": "Letters in applied microbiology",
- "issn": "1472-765X",
- "date": "2015-01-20",
- "abstract": "Francisella tularensis is ubiquitous in the Northern Hemisphere. Yet, little is known about the disease and its ecology within Canada as few serological studies have shown exposure to the disease and fewer case studies have been reported. This report is the first to describe the molecular subtyping of F. tularensis isolates within eastern Canada using multiple-locus variable-number tandem-repeat analysis. From 1998 to 2011, a total of 73 specimens were isolated from unique human and animal sources. As expected, F. tularensis subsp. tularensis AI and F. tularensis subsp. holarctica subtypes were observed, corresponding to the known geographical division within this species. The majority of human isolates (78%) and all animal (hare) isolates were of the more virulent, AI type. Half of the B isolates were isolated from patients living in a region of Quebec where muskrat densities are known to be high. A relatively high level of marker diversity was found, suggestive of multiple introductions of the organism to the region, or more likely ongoing endemicity. There was no evidence of ongoing outbreaks or transmission, and the bulk of cases were likely due to interaction between human activity and the environment (e.g. hunting/trapping activities).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25442329"
-},
-{
- "id": "pmid:25410632",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/25410632",
- "title": "Molecular analysis and MIRU-VNTR typing of Mycobacterium avium subsp. paratuberculosis strains from various sources.",
- "type": "article-journal",
- "doi": "10.1111/jam.12702",
- "authors": [
- ["Z", "R\u00f3nai"],
- ["\u00c1", "Csivincsik"],
- ["M", "Gyuranecz"],
- ["Z", "Kreizinger"],
- ["\u00c1", "D\u00e1n"],
- ["S", "J\u00e1nosi"]
- ],
- "publisher": "Journal of applied microbiology",
- "issn": "1365-2672",
- "date": "2014-12-14",
- "abstract": "Mycobacterium avium subsp. paratuberculosis (MAP) is the causative agent of Johne's disease. Genotypic discrimination of MAP isolates is pivotal to epidemiological studies requisite for revealing infection sources and disease transmission. This study was undertaken to determine the genetic diversity of MAP strains from diverse sources.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25410632"
-},
-{
- "id": "pmid:25357043",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/25357043",
- "title": "Patient-activated controlled expansion for breast reconstruction using controlled carbon dioxide inflation: confirmation of a feasibility study.",
- "type": "article-journal",
- "doi": "10.1097/prs.0000000000000551",
- "authors": [
- ["Tony F", "Connell"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2014-10-01",
- "abstract": "Women with breast cancer or those at high risk of developing breast cancer because of familial history of the disease or genetic mutations are frequently indicated for therapeutic or prophylactic mastectomy. Prosthetic reconstruction of the breast with placement of tissue expanders followed by implants offers favorable aesthetic and psychological results while adding only minimal additional surgical intervention. This study describes the confirmatory phase of an earlier feasibility trial that involved seven women who successfully underwent patient-activated controlled expansion for breast reconstruction with 10 AeroForm patient-controlled tissue expanders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25357043"
-},
-{
- "id": "pmid:25228536",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/25228536",
- "title": "A Chinese medicine formula Gegen Qinlian decoction suppresses expansion of human renal carcinoma with inhibition of matrix metalloproteinase-2.",
- "type": "article-journal",
- "doi": "10.1177/1534735414550036",
- "authors": [
- ["Ning", "Wang"],
- ["Yigang", "Feng"],
- ["Fan", "Cheung"],
- ["Xuanbin", "Wang"],
- ["Zhangjin", "Zhang"],
- ["Yibin", "Feng"]
- ],
- "publisher": "Integrative cancer therapies",
- "issn": "1552-695X",
- "date": "2014-09-15",
- "abstract": "Gegen Qinlian decoction (GQLD) is an ancient Chinese medicine formula for treating diseases with inner heat. The aim of this study is to investigate the antitumor effect of GQLD in human renal carcinoma cell (RCC) and its possible mechanism.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25228536"
-},
-{
- "id": "pmid:24612159",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/24612159",
- "title": "Experience in IVIg therapy for selected women with recurrent reproductive failure and NK cell expansion.",
- "type": "article-journal",
- "doi": "10.1111/aji.12217",
- "authors": [
- ["Rocio", "Ramos-Medina"],
- ["Aurea", "Garc\u00eda-Segovia"],
- ["Juana", "Gil"],
- ["Javier", "Carbone"],
- ["Angel", "Aguar\u00f3n de la Cruz"],
- ["Ansgar", "Seyfferth"],
- ["B\u00e1rbara", "Alonso"],
- ["Jorge", "Alonso"],
- ["Juan A", "Le\u00f3n"],
- ["Diana", "Alecsandru"],
- ["Elena", "Meli\u00e1"],
- ["Elena", "Carrillo de Albornoz"],
- ["Daniel", "Ordo\u00f1ez"],
- ["Isabel", "Santill\u00e1n"],
- ["Victoria", "Verd\u00fa"],
- ["Jose Maria", "Garcia Ruiz de Morales"],
- ["Marcos", "L\u00f3pez-Hoyos"],
- ["Arturo", "L\u00f3pez Larios"],
- ["Almudena", "Sampalo"],
- ["Pedro", "Caballero"],
- ["Luis", "Ortiz Quintana"],
- ["Eduardo", "Fern\u00e1ndez-Cruz"],
- ["Silvia", "S\u00e1nchez-Ram\u00f3n"]
- ],
- "publisher": "American journal of reproductive immunology (New York, N.Y. : 1989)",
- "issn": "1600-0897",
- "date": "2014-03-10",
- "abstract": "Recurrent reproductive failure (RRF) has been associated with expansion of circulating NK cells, key cells for maternal tolerance, decidual vasculogenesis and embryo growth. This study reports our experience in intravenous immunoglobulin (IVIg) therapy of a large cohort of women with RRF with expanded circulating NK and/or NKT-like cells (blood NKT cells are a heterogeneous subset of T cells that share properties of both T cells and NK cells).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24612159"
-},
-{
- "id": "pmid:24517207",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/24517207",
- "title": "Multiple-locus variable-number tandem repeat analysis of Salmonella enterica subsp. enterica serovar Dublin.",
- "type": "article-journal",
- "doi": "10.1111/jam.12441",
- "authors": [
- ["M K", "Kjeldsen"],
- ["M", "Torpdahl"],
- ["J", "Campos"],
- ["K", "Pedersen"],
- ["E M", "Nielsen"]
- ],
- "publisher": "Journal of applied microbiology",
- "issn": "1365-2672",
- "date": "2014-02-12",
- "abstract": "Salmonella serovar Dublin causes disease in cattle and leads to considerable production losses. In humans, severe invasive disease and high mortality rates are reported. The presently available typing methods provide insufficient discrimination within Salm. Dublin for epidemiological investigations. In this study, we developed a multiple-locus variable-number tandem repeat analysis (MLVA) scheme for high discriminatory typing of Salm. Dublin.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24517207"
-},
-{
- "id": "pmid:24352034",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/24352034",
- "title": "Expansion Open-door Laminoplasty With Foraminotomy Versus Anterior Cervical Discectomy and Fusion for Coexisting Multilevel Cervical Myelopathy and Unilateral Radiculopathy.",
- "type": "article-journal",
- "doi": "10.1097/bsd.0000000000000074",
- "authors": [
- ["Zhao", "Fang"],
- ["Rong", "Tian"],
- ["Tian-wei", "Sun"],
- ["Sandip K", "Yadav"],
- ["Wei", "Hu"],
- ["Shui-qing", "Xie"]
- ],
- "publisher": "Clinical spine surgery",
- "issn": "2380-0194",
- "date": "2016-02-01",
- "abstract": "This was a clinical prospective study.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24352034"
-},
-{
- "id": "pmid:24122071",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/24122071",
- "title": "A comparison of skin expansion and contraction between one expander and two expanders: a preliminary study.",
- "type": "article-journal",
- "doi": "10.1007/s00266-013-0225-y",
- "authors": [
- ["Gan-lin", "Zhang"],
- ["Jin-ming", "Zhang"],
- ["Chen-yang", "Ji"],
- ["Hong", "Meng"],
- ["Jian-hua", "Huang"],
- ["He-yuan", "Luo"],
- ["Hua-sheng", "Zhang"],
- ["Xiao-tao", "Liu"],
- ["Xiao-fang", "Hong"]
- ],
- "publisher": "Aesthetic plastic surgery",
- "issn": "1432-5241",
- "date": "2013-12-01",
- "abstract": "This study aimed to compare the difference between the skin expansion and contraction rates for an expanded flap with one versus two expanders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24122071"
-},
-{
- "id": "pmid:23611001",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/23611001",
- "title": "GPIb VNTR C/C genotype may predict embolic events in infective endocarditis.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["Shruti", "Daga"],
- ["James G", "Shepherd"],
- ["Rachel K Y", "Hung"],
- ["J Garreth S", "Callaghan"],
- ["Dana K", "Dawson"],
- ["Gareth J", "Padfield"],
- ["J Ross", "Fitzgerald"],
- ["David E", "Newby"]
- ],
- "publisher": "The Journal of heart valve disease",
- "issn": "0966-8519",
- "date": "2013-01-01",
- "abstract": "Infective endocarditis (IE) is frequently complicated by septic embolism, a need for valve replacement, and death. The development of these complications is associated with the presence, size and mobility of cardiac vegetations, which may form as a result of bacterium-platelet interactions mediated by the platelet glycoprotein GPIb receptor. Variable number tandem repeat (VNTR) and single nucleotide polymorphisms of the gene encoding the GPIb receptor have been described, but their correlation with platelet function, development of vegetations and complications of IE is unknown.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23611001"
-},
-{
- "id": "pmid:23519874",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/23519874",
- "title": "Abdominoplasty revision using tissue expansion.",
- "type": "article-journal",
- "doi": "10.1007/s00266-013-0104-6",
- "authors": [
- ["Omar Marwan", "Kadri"],
- ["Setara", "Moosa"],
- ["M Mark", "Mofid"]
- ],
- "publisher": "Aesthetic plastic surgery",
- "issn": "1432-5241",
- "date": "2013-03-22",
- "abstract": "Postoperative revision after abdominoplasty may be necessary at times to improve contour, remove asymmetries, revise the umbilicus, or improve the scar. This report describes the case of an abdominoplasty performed outside the United States that resulted in an inappropriately high and unattractive scar with an elevated pubic hairline. The patient presented to our clinic 2 years after her initial surgery, and a scar-lowering procedure was performed with the assistance of tissue expansion. The reconstructive effort was staged over a period of 4 months, with an initial procedure to repair several hernias, bury the umbilicus, and place a tissue expander. Over several months, 3.5 L of expansion was performed. During a subsequent surgery, the tissue expander was removed, and the scar was successfully lowered and improved. The healing was uneventful, and the patient was satisfied with the outcome. The final result is exhibited in 1-month follow-up photographs.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23519874"
-},
-{
- "id": "pmid:23217481",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/23217481",
- "title": "Mixed donor chimerism in non-malignant haematological diseases after allogeneic bone marrow transplantation.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["Ghassan Umair", "Shamshad"],
- ["Suhaib", "Ahmed"],
- ["Farhat Abbas", "Bhatti"],
- ["Nadir", "Ali"]
- ],
- "publisher": "Journal of the College of Physicians and Surgeons--Pakistan : JCPSP",
- "issn": "1681-7168",
- "date": "2012-12-01",
- "abstract": "To determine the frequency of mixed donor chimerism in patients of non-malignant haematological diseases after allogeneic bone marrow transplant.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23217481"
-},
-{
- "id": "pmid:22832551",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/22832551",
- "title": "Effect of lamina open angles in expansion open-door laminoplasty on the clinical results in treating cervical spondylotic myelopathy.",
- "type": "article-journal",
- "doi": "10.1097/bsd.0b013e3182695295",
- "authors": [
- ["Hang", "Zhang"],
- ["Shouliang", "Lu"],
- ["Tianwei", "Sun"],
- ["Sandip K", "Yadav"]
- ],
- "publisher": "Journal of spinal disorders & techniques",
- "issn": "1539-2465",
- "date": "2015-04-01",
- "abstract": "A retrospective study.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22832551"
-},
-{
- "id": "pmid:22706464",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/22706464",
- "title": "Is expansion thoracoplasty a safe procedure for mobility and growth potential of the spine? Spontaneous fusion after multiple chest distractions in young children.",
- "type": "article-journal",
- "doi": "10.1097/bpo.0b013e318257d3a9",
- "authors": [
- ["Caglar", "Yilgor"],
- ["Gokhan", "Demirkiran"],
- ["Mehmet", "Ayvaz"],
- ["Muharrem", "Yazici"]
- ],
- "publisher": "Journal of pediatric orthopedics",
- "issn": "1539-2570",
- "date": "2012-01-01",
- "abstract": "Expansion thoracoplasty (ET) is claimed to be a spine-sparing procedure because of the fact that the spine is not exposed directly and intervention toward the spinal column is not performed. It is also recommended in cases of primary spine deformities without rib fusion/aplasia and when the primary problem is not in the thorax itself. The aim of this study was to report spontaneous spinal fusion after multiple thoracic distractions in patients with congenital thoracospinal deformities who have undergone ET in early childhood.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22706464"
-},
-{
- "id": "pmid:22326156",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/22326156",
- "title": "There is little evidence that other clinical and conventional radiographic features are better than minimal buccolingual expansion for the diagnosis of nonsyndromic keratocystic odontogenic tumor.",
- "type": "article-journal",
- "doi": "10.1016/j.jebdp.2011.12.016",
- "authors": [
- ["Punnya V", "Angadi"]
- ],
- "publisher": "The journal of evidence-based dental practice",
- "issn": "1532-3390",
- "date": "2012-03-01",
- "abstract": "To determine if there are other clinical or conventional radiographic signs available to improve the diagnosis of keratocystic odontogenic tumors compared with using minimal or no buccolingual expansion alone.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22326156"
-},
-{
- "id": "pmid:22326151",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/22326151",
- "title": "Maxillary expansion may increase airway dimensions and improve breathing.",
- "type": "article-journal",
- "doi": "10.1016/j.jebdp.2011.12.007",
- "authors": [
- ["Jorge L", "Castillo"]
- ],
- "publisher": "The journal of evidence-based dental practice",
- "issn": "1532-3390",
- "date": "2012-03-01",
- "abstract": "Does rapid maxillary expansion have long-term effects on airway dimensions and breathing?",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22326151"
-},
-{
- "id": "pmid:22286431",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/22286431",
- "title": "Changes in frontal morphology after single-stage open posterior-middle vault expansion for sagittal craniosynostosis.",
- "type": "article-journal",
- "doi": "10.1097/prs.0b013e31823aec1d",
- "authors": [
- ["David", "Khechoyan"],
- ["Carolyn", "Schook"],
- ["Craig B", "Birgfeld"],
- ["Rohit K", "Khosla"],
- ["Babette", "Saltzman"],
- ["Chia Chi", "Teng"],
- ["Russell", "Ettinger"],
- ["Joseph S", "Gruss"],
- ["Richard", "Ellenbogen"],
- ["Richard A", "Hopper"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2012-02-01",
- "abstract": "There is controversy regarding whether the frontal bossing associated with sagittal synostosis requires direct surgical correction or spontaneously remodels after isolated posterior cranial expansion. The authors retrospectively measured changes in frontal bone morphology in patients with isolated sagittal synostosis 2 years after open posterior and midvault cranial expansion and compared these changes with those occurring in age-comparable healthy control groups.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22286431"
-},
-{
- "id": "pmid:21964192",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/21964192",
- "title": "Brazilian green propolis and its constituent, Artepillin C inhibits allogeneic activated human CD4 T cells expansion and activation.",
- "type": "article-journal",
- "doi": "10.1016/j.jep.2011.09.031",
- "authors": [
- ["Ka-Wai", "Cheung"],
- ["Daniel Man-Yuen", "Sze"],
- ["Wing Keung", "Chan"],
- ["Rui-Xia", "Deng"],
- ["Wenwei", "Tu"],
- ["Godfrey Chi-Fung", "Chan"]
- ],
- "publisher": "Journal of ethnopharmacology",
- "issn": "1872-7573",
- "date": "2011-09-22",
- "abstract": "Propolis has long been used as a popular folk medicine by various ethnic groups due to its wide spectrum of alleged biological and pharmaceutical properties including anti-microbial, anti-cancer and anti-inflammatory functions. All these can be linked to the modulation of immune function. Therefore, it will be relevant for us to find out whether there is any novel compound that can account for such action and the mechanism involved.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21964192"
-},
-{
- "id": "pmid:21921761",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/21921761",
- "title": "Patient-activated controlled expansion for breast reconstruction with controlled carbon dioxide inflation: a feasibility study.",
- "type": "article-journal",
- "doi": "10.1097/prs.0b013e3182268b80",
- "authors": [
- ["Anthony F", "Connell"]
- ],
- "publisher": "Plastic and reconstructive surgery",
- "issn": "1529-4242",
- "date": "2011-10-01",
- "abstract": "This feasibility study represents the first report of a new carbon dioxide-based tissue expander designed to allow gradual controlled expansion and to eliminate the need for percutaneous injections. Seven patients underwent implantation with a total of 10 (three bilateral) tissue expanders. After intraoperative filling by the surgeon and wound healing, small doses of carbon dioxide were administered on a daily basis by the patient by means of a hand-held dosage controller leading to gradual, incremental expansion. Rapid expansion during the active dosing phase and flexibility to meet individual patient needs during expansion were demonstrated with all subjects. These patients achieved full expansion in an average of 15 days. All seven patients were able to use the device safely and with ease at home, leading to successful tissue expansion and permanent breast reconstruction.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21921761"
-},
-{
- "id": "pmid:21447016",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/21447016",
- "title": "Detection of virulent Escherichia coli O157 strains using multiplex PCR and single base sequencing for SNP characterization.",
- "type": "article-journal",
- "doi": "10.1111/j.1365-2672.2011.05015.x",
- "authors": [
- ["K", "Haugum"],
- ["L T", "Brandal"],
- ["I", "L\u00f8bersli"],
- ["G", "Kapperud"],
- ["B-A", "Lindstedt"]
- ],
- "publisher": "Journal of applied microbiology",
- "issn": "1365-2672",
- "date": "2011-04-20",
- "abstract": "To compare 167 Norwegian human and nonhuman Escherichia coli O157:H7/NM (nonmotile) isolates with respect to an A/T single nucleotide polymorphism (SNP) in the tir gene and to detect specific SNPs that differentiate STEC O157 into distinct virulence clades (1-3 and 8).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21447016"
-},
-{
- "id": "pmid:21242867",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/21242867",
- "title": "Esophageal rupture in a child after vertical expandable prosthetic titanium rib expansion thoracoplasty: first report of a rare complication.",
- "type": "article-journal",
- "doi": "10.1097/brs.0b013e3181f92c1c",
- "authors": [
- ["Stefan", "van Vendeloo"],
- ["Kees", "Olthof"],
- ["Jan", "Timmerman"],
- ["Adriaan", "Mostert"]
- ],
- "publisher": "Spine",
- "issn": "1528-1159",
- "date": "2011-05-01",
- "abstract": "Case report and clinical discussion.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21242867"
-},
-{
- "id": "pmid:21192219",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/21192219",
- "title": "Plate-only open door laminoplasty maintains stable spinal canal expansion with high rates of hinge union and no plate failures.",
- "type": "article-journal",
- "doi": "10.1097/brs.0b013e3181fea49c",
- "authors": [
- ["John M", "Rhee"],
- ["Bradley", "Register"],
- ["Takahiko", "Hamasaki"],
- ["Betty", "Franklin"]
- ],
- "publisher": "Spine",
- "issn": "1528-1159",
- "date": "2011-01-01",
- "abstract": "Prospective clinical series.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21192219"
-},
-{
- "id": "pmid:20738441",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/20738441",
- "title": "Use of multiple-locus variable-number tandem-repeats analysis (MLVA) typing to characterize Salmonella Typhimurium DT41 broiler breeder infections.",
- "type": "article-journal",
- "doi": "10.1111/j.1365-2672.2010.04833.x",
- "authors": [
- ["E", "Litrup"],
- ["H", "Christensen"],
- ["S", "Nordentoft"],
- ["E M", "Nielsen"],
- ["R H", "Davies"],
- ["R", "Helmuth"],
- ["M", "Bisgaard"]
- ],
- "publisher": "Journal of applied microbiology",
- "issn": "1365-2672",
- "date": "2010-12-01",
- "abstract": "To characterize isolates of Salmonella Typhimurium DT41 obtained from infected flocks of broiler breeders by multiple-locus variable-number tandem-repeats analysis (MLVA) and compare results with a diverse strain collection from Germany and United Kingdom and isolates from Danish patients.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20738441"
-},
-{
- "id": "pmid:20581747",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/20581747",
- "title": "Association of interleukin-1 receptor antagonist gene polymorphism with response to conservative treatment of lumbar herniated nucleus pulposus.",
- "type": "article-journal",
- "doi": "10.1097/brs.0b013e3181e4efb6",
- "authors": [
- ["Dong-Hwan", "Kim"],
- ["Sang-Hun", "Lee"],
- ["Ki-Tack", "Kim"],
- ["Seung-Don", "Yu"]
- ],
- "publisher": "Spine",
- "issn": "1528-1159",
- "date": "2010-07-15",
- "abstract": "A case-control study.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20581747"
-},
-{
- "id": "pmid:20505571",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/20505571",
- "title": "Association between the expression of aggrecan and the distribution of aggrecan gene variable number of tandem repeats with symptomatic lumbar disc herniation in Chinese Han of Northern China.",
- "type": "article-journal",
- "doi": "10.1097/brs.0b013e3181c4e022",
- "authors": [
- ["Lin", "Cong"],
- ["Hao", "Pang"],
- ["Dwight", "Xuan"],
- ["Guan Jun", "Tu"]
- ],
- "publisher": "Spine",
- "issn": "1528-1159",
- "date": "2010-06-15",
- "abstract": "Case-control study.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20505571"
-},
-{
- "id": "pmid:20168113",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/20168113",
- "title": "Genetic analysis of the cause of endometrial osseous metaplasia.",
- "type": "article-journal",
- "doi": "10.1097/aog.0b013e3181bd198c",
- "authors": [
- ["Raphael C\u00e2mara Medeiros", "Parente"],
- ["Marisa Teresinha", "Patriarca"],
- ["Rodrigo Soares", "de Moura Neto"],
- ["Marco Aur\u00e9lio Pinho", "de Oliveira"],
- ["Ricardo Bassil", "Lasmar"],
- ["Paula", "de Holanda Mendes"],
- ["Paulo Gallo", "de S\u00e1"],
- ["Leon", "Cardeman"],
- ["Rosane", "Silva"],
- ["Vilmon", "de Freitas"]
- ],
- "publisher": "Obstetrics and gynecology",
- "issn": "1873-233X",
- "date": "2009-11-01",
- "abstract": "To analyze solitary bone fragments from the uterine cavity through DNA genotyping, thus elucidating whether they originate from metaplasia, from previous abortion, or both.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20168113"
-},
-{
- "id": "pmid:20081510",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/20081510",
- "title": "Expansion thoracoplasty improves respiratory function in a rabbit model of postnatal pulmonary hypoplasia: a pilot study.",
- "type": "article-journal",
- "doi": "10.1097/brs.0b013e3181c4b8c7",
- "authors": [
- ["Hemal P", "Mehta"],
- ["Brian D", "Snyder"],
- ["Stephen R", "Baldassarri"],
- ["Melissa J", "Hayward"],
- ["Michael J", "Giuffrida"],
- ["Vahid", "Entezari"],
- ["Andrew C", "Jackson"]
- ],
- "publisher": "Spine",
- "issn": "1528-1159",
- "date": "2010-01-15",
- "abstract": "Using a rabbit model of postnatal pulmonary hypoplasia, we investigated how expansion thoracoplasty affected growth of the spine and lungs.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20081510"
-},
-{
- "id": "pmid:19934714",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/19934714",
- "title": "Does expansion thoracoplasty improve the volume of the convex lung in a windswept thorax?",
- "type": "article-journal",
- "doi": "10.1097/bpo.0b013e3181c11977",
- "authors": [
- ["John T", "Smith"],
- ["Jonathan", "Jerman"],
- ["Jack", "Stringham"],
- ["Melissa S", "Smith"],
- ["Sohrab", "Gollogy"]
- ],
- "publisher": "Journal of pediatric orthopedics",
- "issn": "1539-2570",
- "date": "2009-12-01",
- "abstract": "Expansion thoracoplasty using the Vertical Expandable Prosthetic Titanium Rib increases the measured height and volume of the concave hemi thorax, but the effect on the convex, non-instrumented lung is unknown. The purpose of this study was to measure changes in lung volume and density in the convex lung after expansion thoracoplasty.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19934714"
-},
-{
- "id": "pmid:19878525",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/19878525",
- "title": "Frequent occurrence of multidrug-resistant CC17 Enterococcus faecium among clinical isolates in Sweden.",
- "type": "article-journal",
- "doi": "10.1111/j.1365-2672.2009.04585.x",
- "authors": [
- ["H", "Billstr\u00f6m"],
- ["J", "Top"],
- ["C", "Edlund"],
- ["B", "Lund"]
- ],
- "publisher": "Journal of applied microbiology",
- "issn": "1365-2672",
- "date": "2009-10-12",
- "abstract": "To screen for the globally spread cluster of Enterococcus faecium, clonal complex 17 (CC17) and characterize the genetic profile of Swedish clinical Ent. faecium isolates.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19878525"
-},
-{
- "id": "pmid:19413762",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/19413762",
- "title": "Genotypic characterization of hospital Enterococcus faecalis strains using multiple-locus variable-number tandem-repeat analysis.",
- "type": "article-journal",
- "doi": "10.1111/j.1472-765x.2009.02629.x",
- "authors": [
- ["E", "Wa\u0142ecka"],
- ["J", "Bania"],
- ["E", "Dworniczek"],
- ["M", "Ugorski"]
- ],
- "publisher": "Letters in applied microbiology",
- "issn": "1472-765X",
- "date": "2009-04-24",
- "abstract": "The level of genetic diversity and relationships between the specific genotypes and the distribution of virulence determinants among Enterococcus faecalis strains isolated from patients hospitalized in different wards of two hospitals were investigated.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19413762"
-},
-{
- "id": "pmid:20740071",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/20740071",
- "title": "Automating skeletal expansion: An implant for distraction osteogenesis of the mandible.",
- "type": "article-journal",
- "doi": "10.1115/1.3071969",
- "authors": [
- ["John C", "Magill"],
- ["Marten F", "Byl"],
- ["Batya", "Goldwaser"],
- ["Maria", "Papadaki"],
- ["Roger", "Kromann"],
- ["Brent", "Yates"],
- ["Joseph R", "Morency"],
- ["Leonard B", "Kaban"],
- ["Maria J", "Troulis"]
- ],
- "publisher": "Journal of medical devices",
- "issn": "1932-6181",
- "date": "2009-03-01",
- "abstract": "BACKGROUND: Distraction osteogenesis (DO) is a technique of bone lengthening that makes use of the body's natural healing capacity. An osteotomy is created and a rigid distraction device is attached to the bone. After a latency period, the device is activated 2-4 times per day for a total of 1 mm/day of bone lengthening. This technique is used to correct a variety of congenital and acquired deformities of the mandible, midface and long bones. To shorten the treatment period and to eliminate the complications of patient activation of the device, an automated continuous distraction device would be desirable. It has been reported that continuous distraction generates adequate bone with lengthening at a rate of 2 mm/day, thereby reducing the treatment time. METHOD OF APPROACH: The device we describe here uses miniature high-pressure hydraulics, position feedback, and a digital controller to achieve closed-loop control of the distraction process. The implanted actuator can produce up to 40N of distraction force on linear trajectories as well as curved distraction paths. In the paper we detail the spring-powered hydraulic reservoir, controller, and user interface. RESULTS: Experiments to test the new device design were performed in a porcine cadaver head and in live pigs. In the cadaver head, the device performed an 11-day/11 mm distraction with a root-mean-squared position error of 0.09 mm. The device functioned for periods of several days in each of five live animals, though some component failures occurred, leading to design revisions. CONCLUSIONS: The test series showed that the novel design of this system provides the capabilities necessary to automate distraction of the mandible. Further developments will focus on making the implanted position sensor more robust and then carrying out clinical trials.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20740071"
-},
{
"id": "pmid:18952144",
"manubot_success": true,
@@ -143774,234 +136464,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17273961"
},
-{
- "id": "pmid:17108843",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/17108843",
- "title": "Prediction of spinal canal expansion following cervical laminoplasty: a computer-simulated comparison between single and double-door techniques.",
- "type": "article-journal",
- "doi": "10.1097/01.brs.0000245851.55012.f1",
- "authors": [
- ["Xiang-Yang", "Wang"],
- ["Li-Yang", "Dai"],
- ["Hua-Zi", "Xu"],
- ["Yong-Long", "Chi"]
- ],
- "publisher": "Spine",
- "issn": "1528-1159",
- "date": "2006-11-15",
- "abstract": "Laminoplasty was simulated using a computer-assisted technique to assess the amount of canal expansion.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17108843"
-},
-{
- "id": "pmid:17047529",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/17047529",
- "title": "The effect of pedicle expansion on pedicle morphology and biomechanical stability in the immature porcine spine.",
- "type": "article-journal",
- "doi": "10.1097/01.brs.0000240759.06855.e6",
- "authors": [
- ["Muharrem", "Yazici"],
- ["Murat", "Pekmezci"],
- ["Akin", "Cil"],
- ["Ahmet", "Alanay"],
- ["Emre", "Acaroglu"],
- ["Fethullah C", "Oner"]
- ],
- "publisher": "Spine",
- "issn": "1528-1159",
- "date": "2006-10-15",
- "abstract": "Biomechanical study in an animal model.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17047529"
-},
-{
- "id": "pmid:17027409",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/17027409",
- "title": "Tunnel expansion after anterior cruciate ligament reconstruction with autogenous hamstrings: a comparison of the medial portal and transtibial techniques.",
- "type": "article-journal",
- "doi": "10.1016/j.arthro.2006.05.019",
- "authors": [
- ["Anikar", "Chhabra"],
- ["Alex J", "Kline"],
- ["Kathy M", "Nilles"],
- ["Christopher D", "Harner"]
- ],
- "publisher": "Arthroscopy : the journal of arthroscopic & related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association",
- "issn": "1526-3231",
- "date": "2006-10-01",
- "abstract": "The purpose of this study was to evaluate the effects of 2 techniques of drilling the femoral tunnel in anterior cruciate ligament (ACL) reconstruction (medial portal v transtibial) on tunnel expansion.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17027409"
-},
-{
- "id": "pmid:16449900",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/16449900",
- "title": "Effects on lung function of multiple expansion thoracoplasty in children with thoracic insufficiency syndrome: a longitudinal study.",
- "type": "article-journal",
- "doi": "10.1097/01.brs.0000197203.76653.d0",
- "authors": [
- ["Etsuro K", "Motoyama"],
- ["Vincent F", "Deeney"],
- ["Gavin F", "Fine"],
- ["Charles I", "Yang"],
- ["Rebecca L", "Mutich"],
- ["Stephen A", "Walczak"],
- ["Morey S", "Moreland"]
- ],
- "publisher": "Spine",
- "issn": "1528-1159",
- "date": "2006-02-01",
- "abstract": "Longitudinal study of intraoperative pulmonary function in young children with thoracic hypoplasia and scoliosis undergoing multiple expansion thoracoplasty using the vertical expandable prosthetic titanium ribs (VEPTRs).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16449900"
-},
-{
- "id": "pmid:16138067",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/16138067",
- "title": "The treatment of spine and chest wall deformities with fused ribs by expansion thoracostomy and insertion of vertical expandable prosthetic titanium rib: growth of thoracic spine and improvement of lung volumes.",
- "type": "article-journal",
- "doi": "10.1097/01.brs.0000175194.31986.2f",
- "authors": [
- ["John B", "Emans"],
- ["Jean Fran\u00e7ois", "Caubet"],
- ["Claudia L", "Ordonez"],
- ["Edward Y", "Lee"],
- ["Michelle", "Ciarlo"]
- ],
- "publisher": "Spine",
- "issn": "1528-1159",
- "date": "2005-09-01",
- "abstract": "Prospective clinical trial of vertical expandable prosthetic titanium rib (VEPTR) in patients with combined spine and chest wall deformity with scoliosis and fused ribs.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16138067"
-},
-{
- "id": "pmid:15223942",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/15223942",
- "title": "Postoperative expansion of intramedullary high-intensity areas on T2-weighted magnetic resonance imaging after cervical laminoplasty.",
- "type": "article-journal",
- "doi": "10.1097/01.brs.0000128757.32816.19",
- "authors": [
- ["Atsushi", "Seichi"],
- ["Katsushi", "Takeshita"],
- ["Hiroshi", "Kawaguchi"],
- ["Susumu", "Nakajima"],
- ["Toru", "Akune"],
- ["Kozo", "Nakamura"]
- ],
- "publisher": "Spine",
- "issn": "1528-1159",
- "date": "2004-07-01",
- "abstract": "A cohort study.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:15223942"
-},
-{
- "id": "pmid:14716276",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/14716276",
- "title": "Timeline of tibial tunnel expansion after single-incision hamstring anterior cruciate ligament reconstruction.",
- "type": "article-journal",
- "doi": "10.1016/j.arthro.2003.10.011",
- "authors": [
- ["David C", "Buck"],
- ["Peter T", "Simonian"],
- ["Roger V", "Larson"],
- ["James", "Borrow"],
- ["David A", "Nathanson"]
- ],
- "publisher": "Arthroscopy : the journal of arthroscopic & related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association",
- "issn": "1526-3231",
- "date": "2004-01-01",
- "abstract": "The purpose of this study was to determine the time frame for tibial tunnel expansion in patients undergoing anterior cruciate ligament (ACL) reconstruction with hamstring autografts using an endoscopic technique. Does this expansion occur immediately after surgery or over the first 12 weeks of rehabilitation?",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:14716276"
-},
-{
- "id": "pmid:12637424",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/12637424",
- "title": "Growth of the thoracic spine in congenital scoliosis after expansion thoracoplasty.",
- "type": "article-journal",
- "doi": "10.2106/00004623-200303000-00002",
- "authors": [
- ["Robert M", "Campbell"],
- ["Anna K", "Hell-Vocke"]
- ],
- "publisher": "The Journal of bone and joint surgery. American volume",
- "issn": "0021-9355",
- "date": "2003-03-01",
- "abstract": "Children with congenital thoracic scoliosis associated with fused ribs with a unilateral unsegmented bar adjacent to convex hemivertebrae will invariably have curve progression without treatment. Surgery has been thought to have a negligible growth-inhibition effect on the thoracic spine in such patients because it has been assumed that the concave side of the curve and the unilateral unsegmented bar do not grow, but we are unaware of any conclusive studies regarding this assumption.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12637424"
-},
-{
- "id": "pmid:11591482",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/11591482",
- "title": "A model for the involvement of Okazaki fragments maturation in the expansion of short tandem repeats.",
- "type": "article-journal",
- "doi": "10.1016/s0378-1119(01)00642-4",
- "authors": [
- ["D", "Bellizzi"],
- ["M A", "Losso"],
- ["V", "Sgaramella"]
- ],
- "publisher": "Gene",
- "issn": "0378-1119",
- "date": "2001-10-03",
- "abstract": "We propose a model for the expansion of short tandem repeats (ESTR), a phenomenon which has been found to occur in human DNA and is associated with a dozen of neuromuscular diseases. The model is based mainly on theoretical considerations and recovers experimental data from the literature; it also finds support in preliminary results obtained by us in multiprimed polymerase chain reactions designed to assess the effects of a downstream primer on the fidelity of the elongation of an upstream one. The model links the occurrence of the ESTR to a defective maturation of the Okazaki fragments (OF), and in particular to an improper processing of their 3' termini. This may occur when the last OF approaches the 5' terminus of the previous one in a susceptible region of the template. It is postulated here that when a growing OF has progressed past the priming region and its main portion has been synthesized, upon approaching its conclusion, the final elongation may take place in a region of the template where certain triplets are repeated: in that case a series of aberrations on the elongation mechanism may occur. These aberrations could involve (a) the displacement of the 5' terminus of the penultimate, properly matured OF, enacted by the incoming 3' terminus of the last OF, (b) the switch of the latter to the displaced strand of the former as template, (c) the fold-back on itself of the growing 3' terminus of the last OF, (d) its assumption of an unusual structure because of the repetition, and (e) some impairment of its removal by structure-specific exo-endonuclease(s). Derangements of this last part of the process may trigger the ESTR.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11591482"
-},
-{
- "id": "pmid:10626307",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10626307",
- "title": "Association between an aggrecan gene polymorphism and lumbar disc degeneration.",
- "type": "article-journal",
- "doi": "10.1097/00007632-199912010-00006",
- "authors": [
- ["Y", "Kawaguchi"],
- ["R", "Osada"],
- ["M", "Kanamori"],
- ["H", "Ishihara"],
- ["K", "Ohmori"],
- ["H", "Matsui"],
- ["T", "Kimura"]
- ],
- "publisher": "Spine",
- "issn": "0362-2436",
- "date": "1999-12-01",
- "abstract": "A case-control study using magnetic resonance imaging findings and a polymerase chain reaction assay to investigate the association between aggrecan gene polymorphism and lumbar disc degeneration.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10626307"
-},
-{
- "id": "pmid:9322318",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/9322318",
- "title": "The biomechanical effect and clinical application of a Ni-Ti shape memory expansion clamp.",
- "type": "article-journal",
- "doi": "10.1097/00007632-199709150-00004",
- "authors": [
- ["F", "Mei"],
- ["X", "Ren"],
- ["W", "Wang"]
- ],
- "publisher": "Spine",
- "issn": "0362-2436",
- "date": "1997-09-15",
- "abstract": "The study involves three phases: a clinical study of 30 patients, a biomechanical study to assess the expansion force of a recovering-shape memory expansion clamp, and a biomechanical study using cadaveric specimens to assess the pullout strength of the shape memory expansion clamp as a function of the shape of the clamp.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9322318"
-},
{
"id": "pmid:7668293",
"manubot_success": true,
@@ -144027,25 +136489,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7668293"
},
-{
- "id": "pmid:7482013",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/7482013",
- "title": "Spinal cord expansion after decompression in cervical myelopathy. Investigation by computed tomography myelography and ultrasonography.",
- "type": "article-journal",
- "doi": "10.1097/00007632-199508000-00002",
- "authors": [
- ["Y", "Matsuyama"],
- ["N", "Kawakami"],
- ["K", "Mimatsu"]
- ],
- "publisher": "Spine",
- "issn": "0362-2436",
- "date": "1995-08-01",
- "abstract": "This study analyzed anatomic characteristics of 44 patients with cervical myelopathy.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7482013"
-},
{
"id": "pmid:7829058",
"manubot_success": true,
@@ -144087,6 +136530,31 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:1518853"
},
+{
+ "id": "pmid:39680235",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39680235",
+ "title": "Case Series of Cerebellar Ataxia with Tremor Due to Heterozygous STUB1 Variants (SCA48) without TBP Expansions: Further Evidence for SCA48 as a Monogenic Disease.",
+ "type": "article-journal",
+ "doi": "10.1007/s12311-024-01762-2",
+ "authors": [
+ ["Yan", "Zochowski"],
+ ["Kishore R", "Kumar"],
+ ["Matthew", "Katz"],
+ ["Paul", "Darveniza"],
+ ["Michel", "Tchan"],
+ ["Renee", "Smyth"],
+ ["Susan", "Tomlinson"],
+ ["Kathy H C", "Wu"],
+ ["Stephen", "Tisch"]
+ ],
+ "publisher": "Cerebellum (London, England)",
+ "issn": "1473-4230",
+ "date": "2024-12-16",
+ "abstract": "Clinically-relevant variants in the STUB1 gene have been associated with an autosomal dominant spinocerebellar ataxia 48 (SCA48), a recently described inherited neurodegenerative condition that is characterised by cognitive and psychiatric changes. To describe the clinical phenotype and genetic findings of three new Australian probands with STUB1 to expand the current understanding of the spectrum of clinical presentation and natural history of SCA48. Clinical and genetic review of patients diagnosed with SCA48 ataxia drawn from our centres. The third case was derived from a collaborating centre (Royal Brisbane Hospital). We identified three unrelated SCA48 patients with heterozygous pathogenic STUB1 variants. All presented with slowly progressive cerebellar ataxia with tremor and additional findings of dysarthria, parkinsonism, hypertonia, cognitive and psychiatric symptoms. Age of onset varied from 34 to 65 years of age. Brain MRI showed significant diffuse cerebellar atrophy, affecting the vermis and cerebellar hemispheres. We identified two novel pathogenic variants of STUB1 gene, and one previously reported pathogenic variant. Genetic testing for intermediate expansions of TBP (SCA17) identified TBP repeats within the normal range of 25-40 in all 3 probands. Our case series expands the clinical spectrum of SCA48. We highlight the importance of tremor as part of the clinical phenotype including upper limb rest tremor and Parkinsonian signs. Our cases lacked pathological TBP expansions and provide additional evidence that STUB1 (SCA48) can manifest as a monogenic disease.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39680235"
+},
{
"id": "pmid:39125760",
"manubot_success": true,
@@ -145229,186 +137697,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8503450"
},
-{
- "id": "pmid:38244854",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38244854",
- "title": "Multi-locus sequence analysis reveals phylogenetically segregated Entamoeba histolytica population.",
- "type": "article-journal",
- "doi": "10.1016/j.parint.2024.102861",
- "authors": [
- ["Shashi", "Upadhyay"],
- ["Koushik", "Das"],
- ["Ajanta", "Ghosal"],
- ["Suvendu", "Manna"],
- ["Yumiko", "Saito-Nakano"],
- ["Shanta", "Dutta"],
- ["Tomoyoshi", "Nozaki"],
- ["Sandipan", "Ganguly"]
- ],
- "publisher": "Parasitology international",
- "issn": "1873-0329",
- "date": "2024-01-18",
- "abstract": "Amoebiasis, caused by the enteric parasite, Entamoeba histolytica, is one of the major food- and water-borne parasitic diseases in developing countries with improper sanitation and poor hygiene. Infection with E. histolytica has diverse disease outcomes, which are determined by the genetic diversity of the infecting strains. Comparative genetic analysis of infecting E. histolytica strains associated with differential disease outcomes from different geographical regions of the world is important to identify the specific genetic patterns of the pathogen that trigger certain disease outcomes of Amoebiasis. The strategy is able to elucidate the genealogical relation and population structure of infecting E. histolytica strains from different geographical regions. In the present study, we have performed a comparative genetic analysis of circulating E. histolytica strains identified from different parts of the world, including our study region, based on five tRNA-linked short tandem repeat (STR) loci (i.e., D-A, NK2, R-R, S",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38244854"
-},
-{
- "id": "pmid:38110172",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38110172",
- "title": "Short tandem repeat (STR) based sequence typing of Entamoeba histolytica identifies S",
- "type": "article-journal",
- "doi": "10.1016/j.parint.2023.102846",
- "authors": [
- ["Shashi", "Upadhyay"],
- ["Koushik", "Das"],
- ["Ajanta", "Ghosal"],
- ["Yumiko", "Saito-Nakano"],
- ["Shanta", "Dutta"],
- ["Tomoyoshi", "Nozaki"],
- ["Sandipan", "Ganguly"]
- ],
- "publisher": "Parasitology international",
- "issn": "1873-0329",
- "date": "2023-12-16",
- "abstract": "Amoebiasis, caused by the enteric parasite Entamoeba histolytica has differential disease outcomes. The association of parasite genotypes with outcomes of amoebic infection is still a paradox and requires to be explored. The genetic information of infecting strains from endemic settings of different geographical regions is essential to evaluate the relation. Comparative genetics of E. histolytica clinical isolates from different disease outcomes have been explored based on two tRNA-linked STR loci (S",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38110172"
-},
-{
- "id": "pmid:36774368",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36774368",
- "title": "STR-based feature extraction and selection for genetic feature discovery in neurological disease genes.",
- "type": "article-journal",
- "doi": "10.1038/s41598-023-29376-4",
- "authors": [
- ["Jasbir", "Dhaliwal"],
- ["John", "Wagner"]
- ],
- "publisher": "Scientific reports",
- "issn": "2045-2322",
- "date": "2023-02-11",
- "abstract": "Gene expression, often determined by single nucleotide polymorphisms, short repeated sequences known as short tandem repeats (STRs), structural variants, and environmental factors, provides means for an organism to produce gene products necessary to live. Variation in expression levels, sometimes known as enrichment patterns, has been associated with disease progression. Thus, the STR enrichment patterns have recently gained interest as potential genetic markers for disease progression. However, to the best of our knowledge, we are unaware of any study that evaluates and explores STRs, particularly trinucleotide sequences, as machine learning features for classifying neurological disease genes for the purpose of discovering genetic features. Thus, in this paper,\u00a0we proposed a new metric and a novel feature extraction and selection algorithm based on statistically significant STR-based features and their respective enrichment patterns to create a statistically significant feature set. The proposed new metric has shown that the neurological disease family genes have a non-random AA, AT, TA, TG, and TT enrichment pattern. This is an important result, as it supports prior research that has established that certain trinucleotides, such as AAT, ATA, ATT, TAT, and TTA, are favored during protein misfolding. In contrast, trinucleotides, such as TAA, TAG, and TGA, are favored during premature termination codon mutations as they are stop codons. This suggests that the metric has the potential to identify patterns that may be genetic features in a sample of neurological genes. Moreover, the practical performance and high prediction results of the statistically significant STR-based feature set indicate that variations in STR enrichment patterns can distinguish neurological disease genes. In conclusion,\u00a0the proposed approach may have the potential to discover differential genetic features for other diseases.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36774368"
-},
-{
- "id": "pmid:36653841",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36653841",
- "title": "LRRC superfamily expression in stromal cells predicts the clinical prognosis and platinum resistance of ovarian cancer.",
- "type": "article-journal",
- "doi": "10.1186/s12920-023-01435-9",
- "authors": [
- ["Xiaoying", "Zhu"],
- ["Shijing", "You"],
- ["Xiuzhen", "Du"],
- ["Kejuan", "Song"],
- ["Teng", "Lv"],
- ["Han", "Zhao"],
- ["Qin", "Yao"]
- ],
- "publisher": "BMC medical genomics",
- "issn": "1755-8794",
- "date": "2023-01-18",
- "abstract": "Leucine-rich repeat sequence domains are known to mediate protein\u2012protein interactions. Recently, some studies showed that members of the leucine rich repeat containing (LRRC) protein superfamily may become new targets for the diagnosis and treatment of tumours. However, it is not known whether any of the LRRC superfamily genes is expressed in the stroma of ovarian cancer (OC) and is associated with prognosis.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36653841"
-},
-{
- "id": "pmid:35796014",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35796014",
- "title": "Establishment and characterization of novel autologous pair cell lines from two Indian non\u2011habitual tongue carcinoma patients.",
- "type": "article-journal",
- "doi": "10.3892/or.2022.8362",
- "authors": [
- ["Nehanjali", "Dwivedi"],
- ["Charitha", "Gangadharan"],
- ["Vijay", "Pillai"],
- ["Moni A", "Kuriakose"],
- ["Amritha", "Suresh"],
- ["Manjula", "Das"]
- ],
- "publisher": "Oncology reports",
- "issn": "1791-2431",
- "date": "2022-07-07",
- "abstract": "Oral tongue squamous cell carcinoma (OTSCC) is one of the major causes of fatality in India due to very high percentage of patients with habits of smoking and chewing tobacco and associated products. Being highly heterogeneous in nature, every patient poses a different challenge clinically. To understand disease progression in an improved way, knowledge of cross\u2011talk between tumor stroma and the tumor cells becomes indispensable. Patient\u2011derived",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35796014"
-},
-{
- "id": "pmid:33740980",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33740980",
- "title": "Establishment and characterization of HXWMF-1: the first mouse fibroblastic tumor cell line derived from leukemia-associated fibroblasts.",
- "type": "article-journal",
- "doi": "10.1186/s12935-021-01870-7",
- "authors": [
- ["Yuanyuan", "Li"],
- ["Ling", "Gu"]
- ],
- "publisher": "Cancer cell international",
- "issn": "1475-2867",
- "date": "2021-03-19",
- "abstract": "Chemo-resistance is still a major obstacle in leukemia treatment. Accumulating evidence indicates that cancer-associated fibroblasts (CAFs), the most abundant stromal cells in tumor microenvironment (TME), play a crucial role in cancer progression and response to chemotherapy. To Figure out the role of leukemia-associated fibroblasts (LAFs) in relapsed/refractory leukemia, we constructed the first leukemia-associated fibroblastic tumor cell line, HXWMF-1.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33740980"
-},
-{
- "id": "pmid:28059126",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/28059126",
- "title": "An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome.",
- "type": "article-journal",
- "doi": "10.1038/srep40031",
- "authors": [
- ["Laia", "Verg\u00e9s"],
- ["Francesca", "Vidal"],
- ["Esther", "Ge\u00e1n"],
- ["Alexandra", "Alemany-Schmidt"],
- ["Maria", "Oliver-Bonet"],
- ["Joan", "Blanco"]
- ],
- "publisher": "Scientific reports",
- "issn": "2045-2322",
- "date": "2017-01-06",
- "abstract": "DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a disorder caused by a 22q11.2 deletion mediated by non-allelic homologous recombination (NAHR) between low-copy repeats (LCRs). We have evaluated the role of LCR22 genomic architecture and PRDM9 variants as DGS/VCFS predisposing factors. We applied FISH using fosmid probes on chromatin fibers to analyze the number of tandem repeat blocks in LCR22 in two DGS/VCFS fathers-of-origin with proven 22q11.2 NAHR susceptibility. Results revealed copy number variations (CNVs) of L9 and K3 fosmids in these individuals compared to controls. The total number of L9 and K3 copies was also characterized using droplet digital PCR (ddPCR). Although we were unable to confirm variations, we detected an additional L9 amplicon corresponding to a pseudogene. Moreover, none of the eight DGS/VCFS parents-of-origin was heterozygote for the inv(22)(q11.2) haplotype. PRDM9 sequencing showed equivalent allelic distributions between DGS/VCFS parents-of-origin and controls, although a new PRDM9 allele (L50) was identified in one case. Our results support the hypothesis that LCR22s variations influences 22q11.2 NAHR events, however further studies are needed to confirm this association and clarify the contribution of pseudogenes and rare PDRM9 alleles to NAHR susceptibility.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28059126"
-},
-{
- "id": "pmid:24860619",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/24860619",
- "title": "Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord.",
- "type": "article-journal",
- "doi": "10.1186/1755-8166-7-31",
- "authors": [
- ["Samantha", "Mascelli"],
- ["Mariasavina", "Severino"],
- ["Alessandro", "Raso"],
- ["Paolo", "Nozza"],
- ["Elisa", "Tassano"],
- ["Giovanni", "Morana"],
- ["Patrizia", "De Marco"],
- ["Elisa", "Merello"],
- ["Claudia", "Milanaccio"],
- ["Marco", "Pavanello"],
- ["Andrea", "Rossi"],
- ["Armando", "Cama"],
- ["Maria Luisa", "Garr\u00e8"],
- ["Valeria", "Capra"]
- ],
- "publisher": "Molecular cytogenetics",
- "issn": "1755-8166",
- "date": "2014-05-15",
- "abstract": "We report on a 9-years-old patient with mild intellectual disability, facial dimorphisms, bilateral semicircular canal dysplasia, periventricular nodular heterotopias, bilateral hippocampal malrotation and abnormal cerebellar foliation, who developed mild motor impairment and gait disorder due to a pilocytic astrocytoma of the spinal cord. Array-CGH analysis revealed two paternal inherited chromosomal events: a 484.3 Kb duplication on chromosome 15q26.3 and a 247 Kb deletion on 22q11.23. Further, a second de novo 1.5\u00a0Mb deletion on 22q11.21 occurred. Chromosome 22 at q11.2 and chromosome 15 at q24q26 are considered unstable regions subjected to copy number variations, i.e. structural alterations of genome, mediated by low copy repeat sequences or segmental duplications. The link between some structural CNVs, which compromise fundamental processes controlling DNA stability, and genomic disorders suggest a plausible scenario for cancer predisposition. Evaluation of the genes at the breakpoints cannot account simultaneously for the phenotype and tumour development in this patient. The two paternal inherited CNVs arguably are not pathogenic and do not contribute to the clinical manifestations. Similarly, although the de novo large deletion at 22q11.21 overlaps with the Di George (DGS) critical region and results in haploinsufficiency of genes compromising critical processes for DNA stability, this case lacks several hallmarks of DGS.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24860619"
-},
{
"id": "pmid:24797903",
"manubot_success": true,
@@ -145430,179 +137718,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24797903"
},
-{
- "id": "pmid:24495629",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/24495629",
- "title": "Association between allelic variation due to short tandem repeats in tRNA gene of Entamoeba histolytica and clinical phenotypes of amoebiasis.",
- "type": "article-journal",
- "doi": "10.1016/j.actatropica.2014.01.009",
- "authors": [
- ["Virendra", "Jaiswal"],
- ["Ujjala", "Ghoshal"],
- ["Balraj", "Mittal"],
- ["Tapan N", "Dhole"],
- ["Uday C", "Ghoshal"]
- ],
- "publisher": "Acta tropica",
- "issn": "1873-6254",
- "date": "2014-02-02",
- "abstract": "Genotypes of Entamoeba histolytica (E. histolytica) may contribute clinical phenotypes of amoebiasis such as amoebic liver abscess (ALA), dysentery and asymptomatic cyst passers state. Hence, we evaluated allelic variation due to short tandem repeats (STRs) in tRNA gene of E. histolytica and clinical phenotypes of amoebiasis. Asymptomatic cyst passers (n=24), patients with dysentery (n=56) and ALA (n=107) were included. Extracted DNA from stool (dysentery, asymptomatic cyst passers) and liver aspirate was amplified using 6 E. histolytica specific tRNA-linked STRs (D-A, A-L, N-K2, R-R, S-Q, and S(TGA)-D) primers. PCR products were subjected to sequencing. Association between allelic variation and clinical phenotypes was analyzed. A total of 9 allelic variations were found in D-A, 8 in A-L, 4 in N-K2, 5 in R-R, 10 in S(TAG)-D and 7 in S-Q loci. A significant association was found between allelic variants and clinical phenotypes of amoebiasis. This study reveals that allelic variation due to short tandem repeats (STRs) in tRNA gene of E. histolytica is associated different clinical outcome of amoebiasis.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24495629"
-},
-{
- "id": "pmid:22562237",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/22562237",
- "title": "Unique short tandem repeat nucleotide sequences in Entamoeba histolytica isolates from China.",
- "type": "article-journal",
- "doi": "10.1007/s00436-012-2945-3",
- "authors": [
- ["Meng", "Feng"],
- ["Junlong", "Cai"],
- ["Bin", "Yang"],
- ["Yongfeng", "Fu"],
- ["Xiangyang", "Min"],
- ["Hiroshi", "Tachibana"],
- ["Xunjia", "Cheng"]
- ],
- "publisher": "Parasitology research",
- "issn": "1432-1955",
- "date": "2012-05-06",
- "abstract": "A few PCR-based DNA typing methods using repetitive elements contained within both protein-coding genes and noncoding DNAs have been reported for Entamoeba histolytica over the years. The serine-rich E. histolytica protein and tRNA-linked short tandem repeats (STRs) are most commonly used to investigate the relationship between parasite genotype and E. histolytica infection outcome. Many E. histolytica infections in China have been reported; however, little genome information has been provided. In the current paper, five Chinese E. histolytica samples were reported: three amoebic liver abscess cases, one combined case and one asymptomatic case. Our study is the first to report on the DNA typing information of E. histolytica in China. We included two city, one imported, and two country cases. Sequence analysis of serine-rich protein genes confirmed the presence of seven sequence types in five isolates. The STRs amplified from the samples revealed five STR variations in the A-L, four in the N-K2, and R-R loci, three in D-A, S(TGA)-D and S-Q loci. Two country patients were found to have a different outcome of infection with the same genotypes of E. histolytica, whereas in a city case, one E. histolytica strain had led to different outcome of the infection in one patient. Analyses of the results suggest that more genome information of E. histolytica strains from China through accurate methods is needed to interpret how the parasite genome plays a role in determining the outcome of E. histolytica infections.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22562237"
-},
-{
- "id": "pmid:21232181",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/21232181",
- "title": "Endothelial nitric oxide synthase gene polymorphisms associated with susceptibility to high altitude pulmonary edema in Chinese railway construction workers at Qinghai-Tibet over 4 500 meters above sea level.",
- "type": "article-journal",
- "doi": "10.1016/s1001-9294(11)60005-9",
- "authors": [
- ["Sun", "Yu-jing"],
- ["Fang", "Ming-wu"],
- ["Niu", "Wen-quan"],
- ["Li", "Guang-ping"],
- ["Liu", "Jing-liang"],
- ["Ding", "Shou-quan"],
- ["Xu", "Ying"],
- ["Yu", "Guo-shu"],
- ["Dong", "Jian-qun"],
- ["Pan", "Yun-jun"],
- ["Dong", "Wei-ya"],
- ["Wang", "Tian"],
- ["Cao", "Jing-wen"],
- ["Li", "Xiao-bo"],
- ["Wang", "Zhong-xiang"],
- ["Yu", "Guang-Xue"],
- ["Sun", "Hui-cheng"],
- ["Jia", "Zhong-hou"],
- ["Liu", "Jun"],
- ["Wang", "Xiao-ming"],
- ["Si", "Qin"],
- ["Wu", "Qi-xia"],
- ["Zhou", "Wen-yu"],
- ["Zhu", "Tong-chun"],
- ["Qiu", "Chang-chun"]
- ],
- "publisher": "Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih",
- "issn": "1001-9294",
- "date": "2010-12-01",
- "abstract": "To examine whether the polymorphisms of endothelial nitric oxide synthase (eNOS) gene are associated with the susceptibility to high altitude pulmonary edema (HAPE) in Chinese railway construction workers at Qinghai-Tibet where the altitude is over 4 500 m above sea level.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21232181"
-},
-{
- "id": "pmid:17597821",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/17597821",
- "title": "Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria.",
- "type": "article-journal",
- "doi": "10.1038/sj.jid.5700924",
- "authors": [
- ["Sharon D", "Whatley"],
- ["Nicola G", "Mason"],
- ["S Alexander", "Holme"],
- ["Alex V", "Anstey"],
- ["George H", "Elder"],
- ["Michael N", "Badminton"]
- ],
- "publisher": "The Journal of investigative dermatology",
- "issn": "1523-1747",
- "date": "2007-06-28",
- "abstract": "Erythropoietic protoporphyria (EPP) is an inherited cutaneous porphyria characterized by partial deficiency of ferrochelatase (FECH), accumulation of protoporphyrin IX in erythrocytes, skin, and liver, and acute photosensitivity. Genetic counseling in EPP requires identification of FECH mutations, but current sequencing-based procedures fail to detect mutations in about one in six families. We have used gene dosage analysis by quantitative PCR to identify large deletions of the FECH gene in 19 (58%) of 33 unrelated UK patients with EPP in whom mutations could not be detected by sequencing. Seven deletions were identified, six of which were previously unreported. Breakpoints were identified for six deletions (c.1-7887-IVS1+2425insTTCA; c.1-9629-IVS1+2437; IVS2-1987-IVS4+352del; c.768-IVS7+244del; IVS7+2784-IVS9+108del; IVS6+2350-TGA+95del). Five breakpoints were in intronic repeat sequences (AluSc, AluSq, AluSx, L1MC4). The remaining deletion (Del Ex3-4) is likely to be a large insertion-deletion. Combining quantitative PCR with routine sequencing increased the sensitivity of mutation detection in 189 unrelated UK patients with EPP from 83% (95% CI: 76-87%) to 93% (CI: 88-96%) (P=0.003). Our findings show that large deletions of the FECH gene are an important cause of EPP. Gene dosage analysis should be incorporated into routine procedures for mutation detection in EPP.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17597821"
-},
-{
- "id": "pmid:17351135",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/17351135",
- "title": "Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.",
- "type": "article-journal",
- "doi": "10.1101/gr.5986507",
- "authors": [
- ["Tamim H", "Shaikh"],
- ["Ronald J", "O'Connor"],
- ["Mary Ella", "Pierpont"],
- ["James", "McGrath"],
- ["April M", "Hacker"],
- ["Manjunath", "Nimmakayalu"],
- ["Elizabeth", "Geiger"],
- ["Beverly S", "Emanuel"],
- ["Sulagna C", "Saitta"]
- ],
- "publisher": "Genome research",
- "issn": "1088-9051",
- "date": "2007-03-09",
- "abstract": "Genomic disorders contribute significantly to genetic disease and, as detection methods improve, greater numbers are being defined. Paralogous low copy repeats (LCRs) mediate many of the chromosomal rearrangements that underlie these disorders, predisposing chromosomes to recombination errors. Deletions of proximal 22q11.2 comprise the most frequently occurring microdeletion syndrome, DiGeorge/Velocardiofacial syndrome (DGS/VCFS), in which most breakpoints have been localized to a 3 Mb region containing four large LCRs. Immediately distal to this region, there are another four related but smaller LCRs that have not been characterized extensively. We used paralog-specific primers and long-range PCR to clone, sequence, and examine the distal deletion breakpoints from two patients with de novo deletions mapping to these distal LCRs. Our results present definitive evidence of the direct involvement of LCRs in 22q11 deletions and map both breakpoints to the BCRL module, common to most 22q11 LCRs, suggesting a potential region for LCR-mediated rearrangement both in the distal LCRs and in the DGS interval. These are the first reported cases of distal 22q11 deletions in which breakpoints have been characterized at the nucleotide level within LCRs, confirming that distal 22q11 LCRs can and do mediate rearrangements leading to genomic disorders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17351135"
-},
-{
- "id": "pmid:16944986",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/16944986",
- "title": "Cardiac Registry screening for DiGeorge Critical Region deletion using loss of heterozygosity analysis.",
- "type": "article-journal",
- "doi": "10.2350/06-02-0041.1",
- "authors": [
- ["Philip J", "Katzman"],
- ["Leslie B", "Smoot"],
- ["Gerald F", "Cox"]
- ],
- "publisher": "Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society",
- "issn": "1093-5266",
- "date": "2006-01-01",
- "abstract": "DiGeorge (DGS), velocardiofacial, and conotruncal anomaly face syndromes comprise a phenotypic spectrum that is associated with a submicroscopic 22q11.2 deletion in the majority of cases. These syndromes variably express complex congenital heart disease, cellular immune deficits, hypocalcemia, craniofacial anomalies, and learning disabilities. This retrospective study correlates the presence of a deletion in this region with autopsy and clinical findings in a cohort of patients selected from the Cardiac Registry at Boston Children's Hospital. DNA was extracted from formalin-fixed paraffin-embedded cardiac tissue sampled from 189 patients with conotruncal anomalies. Polymerase chain reaction (PCR) was performed using 4 fluorescently labeled oligonucleotide primer pairs for unique short tandem repeat polymorphisms in the DGS critical region. The PCR products were analyzed for loss of heterozygosity (LOH), and a deletion was assumed when at least 3 consecutive loci demonstrated homozygosity. Of the 189 cases, 16 (8%) met our criteria for LOH and were assumed to have a deletion. These patients included 6 (35%) of 17 patients diagnosed clinically with DGS prior to death. Of the 10 non-DGS patients with LOH, 4 had aortic atresia and 3 had tetralogy of Fallot, both frequently seen in DGS. Polymerase chain reaction is a useful screening alternative to fluorescence in situ hydridization for detecting 22q11.2 deletions in archived tissue samples. This study identified a probable deletion in a subset of cases from a cardiac registry with cardiac defects associated with the DGS phenotype.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16944986"
-},
-{
- "id": "pmid:16575883",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/16575883",
- "title": "22q11.2 deletion mosaicism in patients with conotruncal heart defects.",
- "type": "article-journal",
- "doi": "10.1002/bdra.20246",
- "authors": [
- ["Li", "Jianrong"],
- ["Liu", "Yinglong"],
- ["Lv", "Xiaodong"],
- ["Yu", "Cuntao"],
- ["Cui", "Bin"],
- ["Wei", "Bo"]
- ],
- "publisher": "Birth defects research. Part A, Clinical and molecular teratology",
- "issn": "1542-0752",
- "date": "2006-04-01",
- "abstract": "Some patients with conotruncal heart defects (CTDs) have a chromosome 22q11.2 deletion, but we do not know whether patients with CTDs who are missing the peripheral blood-cell chromosome 22q11.2 deletion are also missing the 22q11.2 deletion in myocardial cells, and whether patients with the 22q11.2 deletion can show a different 22q11.2 deletion in peripheral blood cells and myocardial cells due to a postzygotic mutation during the embryonic period.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16575883"
-},
{
"id": "pmid:16141220",
"manubot_success": true,
@@ -145622,148 +137737,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16141220"
},
-{
- "id": "pmid:12497610",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/12497610",
- "title": "Association study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q-rich-associated protein) and schizophrenia.",
- "type": "article-journal",
- "doi": "10.1002/ajmg.b.10008",
- "authors": [
- ["Alessandro", "De Luca"],
- ["Emanuela", "Conti"],
- ["Nicoletta", "Grifone"],
- ["Francesca", "Amati"],
- ["Gianfranco", "Spalletta"],
- ["Carlo", "Caltagirone"],
- ["Giuseppina", "Bonaviri"],
- ["Augusto", "Pasini"],
- ["Massimo", "Gennarelli"],
- ["Bignotti", "Stefano"],
- ["Lucia", "Berti"],
- ["Gerhard", "Mittler"],
- ["Michael", "Meisterernst"],
- ["Bruno", "Dallapiccola"],
- ["Giuseppe", "Novelli"]
- ],
- "publisher": "American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics",
- "issn": "1552-4841",
- "date": "2003-01-01",
- "abstract": "Schizophrenia or schizoaffective disorders are quite common features in patients with DiGeorge/velocardiofacial syndrome (DGS/VCFS) as a result of hemizygosity of chromosome 22q11.2. We evaluated the PCQAP gene, which maps within the DGS/VCFS interval, as a potential candidate for schizophrenia susceptibility. PCQAP encodes for a subunit of the large multiprotein complex PC2, which exhibits a coactivator function in RNA polymerase II mediated transcription. Using a case-control study, we searched association between schizophrenia and the intragenic coding trinucleotide polymorphism. The distribution of the CAG repeat alleles was significantly different between patients and controls with the Mann-Whitney test (z = -2.5694, P = 0.0051; schizophrenics: n = 378, W = 161,002.5, Mean rank = 425.9325; controls: n = 444, W = 177,250.5, Mean rank = 399.2128). This result may indicate a possible involvement of the multiprotein complex PC2 in schizophrenia susceptibility.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12497610"
-},
-{
- "id": "pmid:11982893",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/11982893",
- "title": "Molecular analysis of syndromic congenital heart disease using short tandem repeat markers and semiquantitative polymerase chain reaction method.",
- "type": "article-journal",
- "doi": "10.1046/j.1442-200x.2002.01553.x",
- "authors": [
- ["Yi-Ru", "Shi"],
- ["Kai-Sheng", "Hsieh"],
- ["Jer-Yuarn", "Wu"],
- ["Cheng-Chun", "Lee"],
- ["Chang-Hai", "Tsai"],
- ["Fuu-Jen", "Tsai"]
- ],
- "publisher": "Pediatrics international : official journal of the Japan Pediatric Society",
- "issn": "1328-8067",
- "date": "2002-06-01",
- "abstract": "Velo-cardiofacial syndrome (VCFS) and DiGeorge syndrome (DGS) are developmental disorders characterized by craniofacial anomalies and conotruncal heart defects. Many of them have hemizygous deletions within chromosome 22q11.2, suggesting that haploinsufficiency in this region are responsible for their etiologies.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11982893"
-},
-{
- "id": "pmid:11840485",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/11840485",
- "title": "Association of tetralogy of Fallot with a distinct region of del22q11.2.",
- "type": "article-journal",
- "doi": "10.1002/ajmg.10166",
- "authors": [
- ["Gania", "Kessler-Icekson"],
- ["Einat", "Birk"],
- ["Ari Y", "Weintraub"],
- ["Yael", "Barhum"],
- ["Violetta", "Kotlyar"],
- ["Hadassa", "Schlesinger"],
- ["Rivka", "Rockah"],
- ["Bernardo A", "Vidne"],
- ["Amos", "Frisch"]
- ],
- "publisher": "American journal of medical genetics",
- "issn": "0148-7299",
- "date": "2002-02-01",
- "abstract": "Congenital heart defects (CHDs) appear in greater frequency among relatives of patients and in individuals with DiGeorge syndrome (DGS) or velo-cardio-facial syndrome (VCFS). A majority of these patients and part of the apparently nonsyndromic CHD patients with conotruncal defects manifest hemizygous deletions within chromosome 22q11.2 (del22q11). We tested myocardial tissues of 31 CHD patients, 21 with tetralogy of Fallot (TOF) and 10 with a double-chamber right ventricle (DCRV). DNA isolated from tissues removed at corrective surgery was analyzed for homo- or heterozygosity of nine polymorphic short tandem repeat (STR) markers along the 22q11.2 region. DNA from the blood of 45 healthy individuals represented the general population. Ten of the 21 TOF patients (48%) showed homozygosity for three or more consecutive markers, indicating deletions of various sizes. No such indication was found for DCRV patients. Heterozygosity for markers D22S1648, D22S941, and D22S944 was lower in the TOF group than in normal controls, defining a minimal critical region (MCR) for the deletion. Our findings support an association between TOF and hemizygosity in 22q11.2, suggesting a distinct region, between markers D22S1638 and COMT, that may harbor TOF susceptibility genes.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11840485"
-},
-{
- "id": "pmid:11350118",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/11350118",
- "title": "Isolation and characterization of a novel gene containing WD40 repeats from the region deleted in velo-cardio-facial/DiGeorge syndrome on chromosome 22q11.",
- "type": "article-journal",
- "doi": "10.1006/geno.2000.6506",
- "authors": [
- ["B", "Funke"],
- ["R K", "Pandita"],
- ["B E", "Morrow"]
- ],
- "publisher": "Genomics",
- "issn": "0888-7543",
- "date": "2001-05-01",
- "abstract": "Three congenital disorders, cat-eye syndrome (CES), der(22) syndrome, and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS), result from tetrasomy, trisomy, and monosomy, respectively, of part of 22q11. They share a 1.5-Mb region of overlap, which contains 24 known genes. Although the region has been sequenced and extensively analyzed, it is expected to contain additional genes, which have thus far escaped identification. To understand completely the molecular etiology of VCFS/DGS, der(22) syndrome, and CES, it is essential to isolate all genes in the interval. We have identified and characterized a novel human gene, located within the 1.5-Mb region deleted in VCFS/DGS, trisomic in der(22) syndrome and tetrasomic in CES. The deduced amino acid sequence of the human gene and its mouse homologue contain several WD40 repeats, but lack homology to known proteins. We termed this gene WDR14 (WD40 repeat-containing gene deleted in VCFS). It is expressed in a variety of human and mouse adult and fetal tissues with substantial expression levels in the adult thymus, an organ hypoplastic in VCFS/DGS.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11350118"
-},
-{
- "id": "pmid:10860663",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10860663",
- "title": "Mouse RNA helicase II/Gu: cDNA and genomic sequences, chromosomal localization, and regulation of expression.",
- "type": "article-journal",
- "doi": "10.1006/geno.2000.6209",
- "authors": [
- ["B C", "Valdez"],
- ["W", "Wang"]
- ],
- "publisher": "Genomics",
- "issn": "0888-7543",
- "date": "2000-06-01",
- "abstract": "RNA helicase II/Gu (RH II/Gu) is a mammalian nucleolar RNA helicase previously identified using an autoimmune serum from a patient with watermelon stomach disease. RH II/Gu can unwind double-stranded RNA and can fold or introduce a secondary structure to a single-stranded RNA. These two enzymatic activities reside in two separate domains of the RH II/Gu molecule. The present study reports the molecular analysis of the cDNA and genomic sequences of the mouse RH II/Gu, its chromosomal localization, and the regulation of expression. The cDNA-derived amino acid sequence shows three tandem repeats at the NH(2)-terminal end of the protein, which are not conserved in the human homologue. Each repeat has 37 amino acids that are rich in basic residues. The helicase and foldase domains are highly conserved between the mouse and the human RH II/Gu. The basic promoter region of the mouse RH II/Gu gene is within 300 nucleotides upstream of a putative ATG initiation codon. Upstream of this promoter region is a silencer that represses transcription of the mouse RH II/Gu gene. This inhibitory region contains three 38-nucleotide repeats in tandem. The mouse RH II/Gu consists of 14 exons and 13 introns. The 3' flanking sequence of the gene contains three putative polyadenylation sites but only two sites are probably functional as shown by Northern blot analysis and 3' end sequences of mouse RH II/Gu cDNA in the EST database. These two alternative polyadenylation sites are approximately 240 and 2100 nucleotides from the TGA stop codon. Both mouse and human RH II/Gu genes are localized on chromosome 10. The availability of the mouse RH II/Gu gene will facilitate its functional analysis including creation of a mouse deficient in RH II/Gu protein.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10860663"
-},
-{
- "id": "pmid:10699172",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10699172",
- "title": "Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.",
- "type": "article-journal",
- "doi": "10.1093/hmg/9.4.489",
- "authors": [
- ["T H", "Shaikh"],
- ["H", "Kurahashi"],
- ["S C", "Saitta"],
- ["A M", "O'Hare"],
- ["P", "Hu"],
- ["B A", "Roe"],
- ["D A", "Driscoll"],
- ["D M", "McDonald-McGinn"],
- ["E H", "Zackai"],
- ["M L", "Budarf"],
- ["B S", "Emanuel"]
- ],
- "publisher": "Human molecular genetics",
- "issn": "0964-6906",
- "date": "2000-03-01",
- "abstract": "The 22q11.2 deletion syndrome, which includes DiGeorge and velocardiofacial syndromes (DGS/VCFS), is the most common microdeletion syndrome. The majority of deleted patients share a common 3 Mb hemizygous deletion of 22q11.2. The remaining patients include those who have smaller deletions that are nested within the 3 Mb typically deleted region (TDR) and a few with rare deletions that have no overlap with the TDR. The identification of chromosome 22-specific duplicated sequences or low copy repeats (LCRs) near the end-points of the 3 Mb TDR has led to the hypothesis that they mediate deletions of 22q11.2. The entire 3 Mb TDR has been sequenced, permitting detailed investigation of the LCRs and their involvement in the 22q11.2 deletions. Sequence analysis has identified four LCRs within the 3 Mb TDR. Although the LCRs differ in content and organization of shared modules, those modules that are common between them share 97-98% sequence identity with one another. By fluorescence in situ hybridization (FISH) analysis, the end-points of four variant 22q11.2 deletions appear to localize to the LCRs. Pulsed-field gel electrophoresis and Southern hybridization have been used to identify rearranged junction fragments from three variant deletions. Analysis of junction fragments by PCR and sequencing of the PCR products implicate the LCRs directly in the formation of 22q11.2 deletions. The evolutionary origin of the duplications on chromosome 22 has been assessed by FISH analysis of non-human primates. Multiple signals in Old World monkeys suggest that the duplication events may have occurred at least 20-25 million years ago.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10699172"
-},
{
"id": "pmid:10440825",
"manubot_success": true,
@@ -145788,49 +137761,25 @@
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10440825"
},
{
- "id": "pmid:9714433",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/9714433",
- "title": "Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["A", "Rauch"],
- ["M", "Hofbeck"],
- ["G", "Leipold"],
- ["J", "Klinge"],
- ["U", "Trautmann"],
- ["M", "Kirsch"],
- ["H", "Singer"],
- ["R A", "Pfeiffer"]
- ],
- "publisher": "American journal of medical genetics",
- "issn": "0148-7299",
- "date": "1998-07-24",
- "abstract": "Interruption of the aortic arch (IAA) is a severe malformation of the heart with known association to DiGeorge syndrome (DGS) and 22q11.2 hemizygosity. The aim of this study was to establish incidence and significance of 22q11.2 hemizygosity in an unbiased sample of patients with IAA. All 15 children with IAA who were referred to our hospital in a 3-year period were tested by chromosome and fluorescence in situ hybridization (FISH) analysis with the probes D22S75, Tuplel, and cHKAD26 and by a set of 10 simple tandem repeat polymorphic (STRP) markers. In nine of 11 children with IAA type B, 22q11.2 hemizygosity was demonstrated by FISH and STRP analysis, but in none of the four children with type A. In all but one child, deletion size was approximately 3 Mb. The girl with the smaller deletion of approximately 1.5 Mb differed because of an Ullrich-Turner syndrome-like phenotype and severe T-cell defect. Additionally, in one patient with phenotypic signs of DGS, a small deletion distal to the known DGS region containing the marker D22S308 was suspected by STRP analysis. One deletion was shown to be inherited from a healthy father and one IAA type A recurred in a sib. T-cell anomalies were evident in eight of the nine children with classical deletion, five of whom suffered also from hypoparathyroidism. With respect to cause and clinical course, IAA type A and B were shown to represent different entities. This study showed that variable symptoms of 22q11.2 hemizygosity may cluster.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9714433"
-},
-{
- "id": "pmid:7626886",
+ "id": "pmid:39669694",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/7626886",
- "title": "The bovine interleukin-4 gene: genomic organization, localization, and evolution.",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39669694",
+ "title": "Prevalence of Transcription Factor 4 Gene Triplet Repeat Expansion Associated with Fuchs' Endothelial Corneal Dystrophy in the United States and Global Populations.",
"type": "article-journal",
- "doi": "10.1007/bf00364799",
+ "doi": "10.1016/j.xops.2024.100611",
"authors": [
- ["J", "Buitkamp"],
- ["F W", "Schwaiger"],
- ["S", "Solinas-Toldo"],
- ["R", "Fries"],
- ["J T", "Epplen"]
+ ["Xunzhi", "Zhang"],
+ ["Ashwani", "Kumar"],
+ ["Xin", "Gong"],
+ ["Chao", "Xing"],
+ ["V Vinod", "Mootha"]
],
- "publisher": "Mammalian genome : official journal of the International Mammalian Genome Society",
- "issn": "0938-8990",
- "date": "1995-05-01",
- "abstract": "Interleukin-4 (IL4) is involved in the immune response to certain parasites and possibly in the development of some atopic diseases since it triggers the T helper 2 lymphocyte response. Therefore, IL4 is a candidate gene, for example, for disease association studies and gene mapping. We isolated bovine IL4 cosmids and determined the genomic organization. Fragments carrying the exons as well as 725 base pairs (bp) from the 5' flanking and 190 bp from the 3' flanking region were cloned and sequenced. The first 481 base pairs of the 5' flanking region, including the putative promoter sequences, are surprisingly similar (92%) between cattle and human. In addition, we cloned and sequenced a mixed [(t/g)a]m(ca)n repeat located approximately 35 kilobases upstream from the IL4 gene. It showed seven repeat length alleles in a limited number of animals. The IL4 gene has been assigned to 7q15-q21 by fluorescence in situ hybridization in cattle. Evolutionary aspects are discussed on the basis of sequence data as well as interspecies chromosomal homologies.",
+ "publisher": "Ophthalmology science",
+ "issn": "2666-9145",
+ "date": "2024-08-30",
+ "abstract": "An intronic cytosine-thymine-guanine (CTG) triplet repeat expansion in the transcription factor 4 gene (",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7626886"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39669694"
},
{
"id": "pmid:39332053",
@@ -147056,61 +139005,9 @@
},
{
"id": "pmid:11526470",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/11526470",
- "title": "Association and linkage studies between bipolar affective disorder and the polymorphic CAG/CTG repeat loci ERDA1, SEF2-1B, MAB21L and KCNN3.",
- "type": "article-journal",
- "doi": "10.1038/sj.mp.4000898",
- "authors": [
- ["I V", "Meira-Lima"],
- ["J", "Zhao"],
- ["P", "Sham"],
- ["A C", "Pereira"],
- ["J E", "Krieger"],
- ["H", "Vallada"]
- ],
- "publisher": "Molecular psychiatry",
- "issn": "1359-4184",
- "date": "2001-09-01",
- "abstract": "Several reports have suggested the presence of anticipation in bipolar affective disorder (BPAD). In addition, independent studies using the RED (repeat expansion detection) have shown association between BPAD and longer CAG/CTG repeats. Therefore loci with large CAG/CTG repeats are plausible candidates in the inheritance of BPAD. The present study assesses the length of the repeats in four loci: the ERDA-1 locus which is known to account for most of the long CAG repeats detected by RED, the SEF2-1b locus which is placed in a region where positive linkage results have been reported and the loci MAB21L and KCNN3 as functional candidate genes. A Brazilian case-control sample with 115 unrelated BPAD patients and 196 healthy control subjects and 14 multiply affected bipolar families was investigated. With the case-control design the distribution of alleles between the two groups did not approach statistical significance. The extended transmission disequilibrium test (ETDT) performed in our families did not show evidence for linkage disequilibrium. Parametric and non-parametric linkage analysis also did not provide support for linkage between any of the four loci and BPAD. Our data do not support the hypothesis that variation at the polymorphic CAG/CTG repeat loci ERDA-1, SEF2-1b, MAB21L or KCNN3 influence susceptibility to BPAD in our sample.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11526470"
-},
-{
- "id": "pmid:10889556",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10889556",
- "title": "Allelic distribution of CTG18.1 in Caucasian populations: association studies in bipolar disorder, schizophrenia, and ataxia.",
- "type": "article-journal",
- "doi": "10.1038/sj.mp.4000747",
- "authors": [
- ["M G", "McInnis"],
- ["T", "Swift-Scanlanl"],
- ["A T", "Mahoney"],
- ["J", "Vincent"],
- ["G", "Verheyen"],
- ["T H", "Lan"],
- ["L", "Oruc"],
- ["O", "Riess"],
- ["C", "Van Broeckhoven"],
- ["H", "Chen"],
- ["J L", "Kennedy"],
- ["D F", "MacKinnon"],
- ["R L", "Margolis"],
- ["S G", "Simpson"],
- ["F J", "McMahon"],
- ["E", "Gershon"],
- ["J", "Nurnberger"],
- ["T", "Reich"],
- ["J R", "DePaulo"],
- ["C A", "Ross"]
- ],
- "publisher": "Molecular psychiatry",
- "issn": "1359-4184",
- "date": "2000-07-01",
- "abstract": "CTG18.1 is a highly polymorphic and unstable CTG repeat within an intron of the SEF2-1 gene. We tested the CTG18.1 repeat length in affective disorder, schizophrenia, and nonspecific ataxia; these diseases all have shown clinical evidence for anticipation. There was no difference in the allele frequencies comparing the controls and disease groups. The most common allele contains 11 CAGs (35%) followed by alleles with 14-17 CAGs (35%). There was no difference in the distribution of the alleles in the cases vs controls for ataxia (P = 0.11), affective disorders (P = 0.21), or schizophrenia (P = 0.26). The frequency of unstable CTG18.1 alleles was approximately 3% in a population of N. European descent and is not related to the phenotypes tested.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10889556"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/11526470",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:11526470']' timed out after 3 seconds"
},
{
"id": "pmid:10395212",
@@ -147283,18 +139180,8 @@
},
{
"id": "mondo:0010735",
- "manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0010735",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0010735"
+ "manubot_success": false,
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'mondo:0010735']' timed out after 3 seconds"
},
{
"id": "mondo:0010654",
@@ -147900,223 +139787,223 @@
"id": "omim:309548",
"manubot_success": false,
"link": "https://omim.org/entry/309548",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/309548']' timed out after 3 seconds"
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/309548. Skipping"
},
{
"id": "omim:309510",
"manubot_success": false,
"link": "https://omim.org/entry/309510",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/309510']' timed out after 3 seconds"
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/309510. Skipping"
},
{
"id": "omim:308350",
"manubot_success": false,
"link": "https://omim.org/entry/308350",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/308350']' timed out after 3 seconds"
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/308350. Skipping"
},
{
"id": "omim:300004",
"manubot_success": false,
"link": "https://omim.org/entry/300004",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/300004']' timed out after 3 seconds"
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/300004. Skipping"
},
{
"id": "omim:300215",
"manubot_success": false,
"link": "https://omim.org/entry/300215",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/300215']' timed out after 3 seconds"
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/300215. Skipping"
},
{
"id": "omim:183090",
"manubot_success": false,
"link": "https://omim.org/entry/183090",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/183090']' timed out after 3 seconds"
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/183090. Skipping"
},
{
"id": "omim:164500",
"manubot_success": false,
"link": "https://omim.org/entry/164500",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/164500']' timed out after 3 seconds"
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/164500. Skipping"
},
{
"id": "omim:608768",
"manubot_success": false,
"link": "https://omim.org/entry/608768",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/608768']' timed out after 3 seconds"
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/608768. Skipping"
},
{
"id": "omim:117210",
"manubot_success": false,
"link": "https://omim.org/entry/117210",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/117210']' timed out after 3 seconds"
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/117210. Skipping"
},
{
"id": "omim:105500",
"manubot_success": false,
"link": "https://omim.org/entry/105500",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/105500']' timed out after 3 seconds"
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/105500. Skipping"
},
{
"id": "omim:147791",
"manubot_success": false,
"link": "https://omim.org/entry/147791",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/147791']' timed out after 3 seconds"
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/147791. Skipping"
},
{
"id": "omim:615945",
"manubot_success": false,
"link": "https://omim.org/entry/615945",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/615945']' timed out after 3 seconds"
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/615945. Skipping"
},
{
"id": "omim:136630",
"manubot_success": false,
"link": "https://omim.org/entry/136630",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/136630']' timed out after 3 seconds"
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/136630. Skipping"
},
{
"id": "omim:229300",
"manubot_success": false,
"link": "https://omim.org/entry/229300",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/229300']' timed out after 3 seconds"
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/229300. Skipping"
},
{
"id": "omim:618940",
"manubot_success": false,
"link": "https://omim.org/entry/618940",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/618940']' timed out after 3 seconds"
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/618940. Skipping"
},
{
"id": "omim:618412",
"manubot_success": false,
"link": "https://omim.org/entry/618412",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/618412']' timed out after 3 seconds"
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/618412. Skipping"
},
{
"id": "omim:186000",
"manubot_success": false,
"link": "https://omim.org/entry/186000",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/186000']' timed out after 3 seconds"
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/186000. Skipping"
},
{
"id": "omim:164310",
"manubot_success": false,
"link": "https://omim.org/entry/164310",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/164310']' timed out after 3 seconds"
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/164310. Skipping"
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"id": "omim:613608",
"manubot_success": false,
"link": "https://omim.org/entry/613608",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/613608']' timed out after 3 seconds"
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"id": "omim:105400",
"manubot_success": false,
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- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/105400']' timed out after 3 seconds"
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"id": "omim:614153",
"manubot_success": false,
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- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/614153']' timed out after 3 seconds"
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"manubot_success": false,
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"manubot_success": false,
"link": "https://omim.org/entry/618637",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/618637']' timed out after 3 seconds"
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"manubot_success": false,
"link": "https://omim.org/entry/258450",
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"manubot_success": false,
"link": "https://omim.org/entry/157640",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/157640']' timed out after 3 seconds"
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"manubot_success": false,
"link": "https://omim.org/entry/604326",
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"manubot_success": false,
"link": "https://omim.org/entry/616488",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/616488']' timed out after 3 seconds"
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/616488. Skipping"
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"manubot_success": false,
"link": "https://omim.org/entry/601068",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/601068']' timed out after 3 seconds"
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"manubot_success": false,
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"manubot_success": false,
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- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/607136']' timed out after 3 seconds"
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"id": "omim:187500",
"manubot_success": false,
"link": "https://omim.org/entry/187500",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/187500']' timed out after 3 seconds"
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{
"id": "omim:613267",
"manubot_success": false,
"link": "https://omim.org/entry/613267",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/613267']' timed out after 3 seconds"
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{
"id": "omim:619216",
"manubot_success": false,
"link": "https://omim.org/entry/619216",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/619216']' timed out after 3 seconds"
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{
"id": "omim:600223",
"manubot_success": false,
"link": "https://omim.org/entry/600223",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/600223']' timed out after 3 seconds"
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{
"id": "omim:314390",
"manubot_success": false,
"link": "https://omim.org/entry/314390",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/314390']' timed out after 3 seconds"
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},
{
"id": "omim:616181",
"manubot_success": false,
"link": "https://omim.org/entry/616181",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/616181']' timed out after 3 seconds"
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/616181. Skipping"
},
{
"id": "omim:609893",
"manubot_success": false,
"link": "https://omim.org/entry/609893",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/609893']' timed out after 3 seconds"
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/609893. Skipping"
},
{
"id": "genereviews:NBK535148",
@@ -148248,9 +140135,21 @@
},
{
"id": "genereviews:NBK1196",
- "manubot_success": false,
- "link": "https://www.ncbi.nlm.nih.gov/books/NBK1196",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1196']' timed out after 3 seconds"
+ "manubot_success": true,
+ "link": "http://www.ncbi.nlm.nih.gov/books/NBK1196/",
+ "title": "Spinocerebellar Ataxia Type 3",
+ "type": "chapter",
+ "doi": "",
+ "authors": [
+ ["Henry", "Paulson"],
+ ["Vikram", "Shakkottai"]
+ ],
+ "publisher": "GeneReviews\u00ae",
+ "issn": "",
+ "date": "1993-01-01",
+ "abstract": "Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including pyramidal signs, a dystonic-rigid extrapyramidal syndrome, significant peripheral amyotrophy and generalized areflexia, progressive external ophthalmoplegia, action-induced facial and lingual fasciculations, and bulging eyes. Neurologic findings tend to evolve as the disorder progresses., The diagnosis of SCA3 is established in a proband with suggestive findings and a heterozygous abnormal CAG trinucleotide repeat expansion in ATXN3 identified by molecular genetic testing., Treatment of manifestations: Management is supportive as no medication slows the course of disease. The goals of treatment are to maximize function and reduce complications. It is recommended that each individual be managed by a multidisciplinary team of relevant specialists such as neurologists, occupational therapists, physical therapists, physiatrists, orthopedists, nutritionists, speech therapists, social workers, and psychologists. Various manifestations may respond to pharmacologic agents. Regular physical activity is recommended, including combined physical and occupational therapy focused on gait and coordination. Canes and walkers help prevent falling; motorized scooters, weighted eating utensils, and dressing hooks help to maintain independence. Speech therapy and communication devices may benefit those with dysarthria, and dietary modification those with dysphagia. Other recommendations include home adaptations to prevent falls and improve mobility, dietary supplements if caloric intake is reduced, weight control to facilitate ambulation and mobility, and caution with general anesthesia. Surveillance: Annual assessments (or more frequently as needed) of neurologic findings (e.g., dysarthria, dysphagia, bladder dysfunction, neuropathic pain, cognitive and psychiatric manifestations), weight and nutritional status, and social support., SCA3 is inherited in an autosomal dominant manner. Each child of an affected individual has a 50% chance of inheriting the ATXN3 CAG repeat expansion. Once the CAG repeat expansion has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible. Note: The prenatal finding of an ATXN3 CAG repeat expansion cannot be used to accurately predict onset, severity, type of symptoms, or rate of progression of SCA3.",
+ "language": "eng",
+ "note": "PMID: 20301375\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1196"
},
{
"id": "genereviews:NBK557816",
@@ -148496,34 +140395,49 @@
},
{
"id": "genereviews:NBK1384",
- "manubot_success": false,
- "link": "https://www.ncbi.nlm.nih.gov/books/NBK1384",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1384']' timed out after 3 seconds"
-},
-{
- "id": "genereviews:NBK1441",
"manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1441/",
- "title": "Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome",
+ "link": "http://www.ncbi.nlm.nih.gov/books/NBK1384/",
+ "title": "FMR1 Disorders",
"type": "chapter",
"doi": "",
"authors": [
- ["Hannah", "Verdin"],
- ["Charlotte", "Matton"],
- ["Elfride", "De Baere"]
+ ["Jessica Ezzell", "Hunter"],
+ ["Elizabeth", "Berry-Kravis"],
+ ["Heather", "Hipp"],
+ ["Peter K.", "Todd"]
],
"publisher": "GeneReviews\u00ae",
"issn": "",
"date": "1993-01-01",
- "abstract": "Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is defined by a complex eyelid malformation characterized by four major features, all present at birth: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. BPES type I includes the four major features and primary ovarian insufficiency; BPES type II includes only the four major features. Other ophthalmic manifestations that can be associated with BPES include dysplastic eyelids, lacrimal duct anomalies, strabismus, refractive errors, and amblyopia. Other craniofacial features may include a broad nasal bridge and low-set ears., The diagnosis of BPES is established in a proband with suggestive findings and a heterozygous pathogenic variant in FOXL2 or its regulatory domain identified by molecular genetic testing., Treatment of manifestations: Management requires the input of a multidisciplinary team of specialists. Eyelid surgery traditionally involves a medial canthoplasty for correction of the blepharophimosis, epicanthus inversus, and telecanthus at age three to five years, typically followed a year later by ptosis correction. Primary ovarian insufficiency is managed by hormone replacement therapy; fertility is addressed with reproductive technologies such as embryo donation, egg donation, and cryopreservation strategies. Surveillance: Ophthalmic follow up depends on age, procedures performed in the past, and results of visual acuity testing. Endocrinologic and gynecologic follow up are advised for affected females. Psychological follow up is recommended., BPES is almost always inherited in an autosomal dominant manner. More than half of individuals diagnosed with BPES have the disorder as the result of a pathogenic variant inherited from an affected parent. Each child of an individual with BPES has a 50% chance of inheriting the pathogenic variant. Once the BPES-causing pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing for BPES are possible.",
+ "abstract": "FMR1 disorders include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI). Fragile X syndrome occurs in individuals with an FMR1 full mutation or other loss-of-function variant and is nearly always characterized in affected males by developmental delay and intellectual disability along with a variety of behavioral issues. Autism spectrum disorder is present in 50%-70% of individuals with FXS. Affected males may have characteristic craniofacial features (which become more obvious with age) and medical problems including hypotonia, gastroesophageal reflux, strabismus, seizures, sleep disorders, joint laxity, pes planus, scoliosis, and recurrent otitis media. Adults may have mitral valve prolapse or aortic root dilatation. The physical and behavioral features seen in males with FXS have been reported in females heterozygous for the FMR1 full mutation, but with lower frequency and milder involvement. FXTAS occurs in individuals who have an FMR1 premutation and is characterized by late-onset, progressive cerebellar ataxia and intention tremor followed by cognitive impairment. Psychiatric disorders are common. Age of onset is typically between 60 and 65 years and is more common among males who are hemizygous for the premutation (40%) than among females who are heterozygous for the premutation (16%-20%). FXPOI, defined as hypergonadotropic hypogonadism before age 40 years, has been observed in 20% of women who carry a premutation allele compared to 1% in the general population., The diagnosis of an FMR1 disorder is established through the use of specialized molecular genetic testing to detect CGG trinucleotide repeat expansion in the 5' UTR of FMR1 with abnormal gene methylation for most alleles with >200 repeats. Typically, a definite diagnosis of FXS requires the presence of a full-mutation repeat size (>200 CGG repeats) while the diagnosis of FXTAS or FXPOI is associated with a premutation-sized repeat (55-200 CGG repeats). It should be noted that typical multigene panels and comprehensive genomic testing (exome or genome sequencing) are useful only when no CGG repeat expansion is detected but FXS is still suspected., Treatment of manifestations: Fragile X syndrome: supportive and symptom-based therapy for children and adults typically consisting of a dual approach of psychopharmacologic treatment of symptoms as needed in conjunction with therapeutic services, such as behavioral intervention, speech and language therapy, occupational therapy, and individualized educational support; routine treatment of medical problems. FXTAS: symptomatic and supportive and should be tailored to the individual. FXPOI: Gynecologic or reproductive endocrinologic evaluation can provide appropriate treatment and counseling for reproductive considerations and hormone replacement. Agents/circumstances to avoid: FXTAS: typical and atypical antipsychotics with significant anti-dopaminergic effects and metoclopramide, which can exacerbate parkinsonism; anticholinergic agents, which can exacerbate cognitive complaints; excessive alcohol, which can enhance cerebellar dysfunction and postural instability; agents with known cerebellar toxicity or side effects. FXPOI: tobacco use as this decreases ovarian reserve and the age of onset of FXPOI., FMR1 disorders are inherited in an X-linked manner. All mothers of individuals with an FMR1 full mutation (expansion >200 CGG trinucleotide repeats and abnormal methylation) are heterozygous for an FMR1 pathogenic variant. Mothers and their female relatives who are heterozygous for a premutation are at increased risk for FXTAS, FXPOI, and fragile X-associated neuropsychiatric disorders (FXAND); those with a full mutation may have findings of fragile X syndrome. All are at increased risk of having offspring with fragile X syndrome, FXTAS, FXPOI, or FXAND. Males with premutations are at increased risk for FXTAS. Males with FXTAS will transmit their FMR1 premutation expansion to all of their daughters, who will be heterozygous for a premutation and at increased risk for FXTAS, FXPOI, and FXAND. Males with FXTAS do not transmit their FMR1 premutation to sons. Prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible once an expanded (or altered) FMR1 allele has been identified in a family member.",
"language": "eng",
- "note": "PMID: 20301614\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1441"
+ "note": "PMID: 20301558\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1384"
},
{
- "id": "genereviews:NBK1281",
+ "id": "genereviews:NBK1441",
"manubot_success": false,
- "link": "https://www.ncbi.nlm.nih.gov/books/NBK1281",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1281']' timed out after 3 seconds"
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1441",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1441']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1281",
+ "manubot_success": true,
+ "link": "http://www.ncbi.nlm.nih.gov/books/NBK1281/",
+ "title": "Friedreich Ataxia",
+ "type": "chapter",
+ "doi": "",
+ "authors": [
+ ["Sanjay I.", "Bidichandani"],
+ ["Martin B.", "Delatycki"],
+ ["Marek", "Napierala"],
+ ["Antoine", "Duquette"]
+ ],
+ "publisher": "GeneReviews\u00ae",
+ "issn": "",
+ "date": "1993-01-01",
+ "abstract": "Typical Friedreich ataxia (FRDA) is characterized by progressive ataxia with onset from early childhood to early adulthood with mean age at onset from 10 to 15 years (range: age two years to the eighth decade). Ataxia, manifesting initially as poor balance when walking, is typically followed by upper-limb ataxia, dysarthria, dysphagia, peripheral motor and sensory neuropathy, spasticity, autonomic disturbance, and often abnormal eye movements and optic atrophy. Hypertrophic cardiomyopathy is present in about two thirds of individuals; occasionally it is diagnosed prior to the onset of ataxia. Diabetes mellitus and impaired glucose tolerance can also occur. Among individuals with FRDA, about 75% have \"typical Friedreich ataxia\" and about 25% of individuals with biallelic FXN full-penetrance GAA repeat expansions have \"atypical Friedreich ataxia\" that includes late-onset FRDA (LOFA) (i.e., onset after age 25 years), very late-onset FRDA (VLOFA) (i.e., onset after age 40 years), and FRDA with retained reflexes (FARR)., The diagnosis of Friedreich ataxia is established in a proband with suggestive findings and biallelic pathogenic variants in FXN identified by molecular genetic testing. The two classes of FXN pathogenic variants are (1) GAA repeat expansions and (2) FXN pathogenic sequence variants, including base substitutions and small indels or large deletions. Approximately 96% of individuals with FRDA have biallelic FXN GAA repeat expansions in intron 1; approximately 4% are compound heterozygotes for an FXN GAA repeat expansion and either an intragenic FXN pathogenic variant or a large deletion., Targeted therapy: Omaveloxolone, an Nrf2 activator, has been shown to slow the progression of FRDA; it is approved in the United States and Europe for individuals age 16 years and older. Supportive care: Multidisciplinary care by specialists in relevant fields, such as neurologists, ophthalmologists, orthoptists, physical therapists, occupational therapists, cardiologists, endocrinologists, speech and language therapists, and psychologists. Surveillance: Routinely scheduled evaluations by the treating multidisciplinary specialists. Agents/circumstances to avoid: Use and misuse of illegal and controlled drugs, as they may affect neuronal well-being and, thus, exacerbate disease manifestations; medications that are toxic or potentially toxic to people with neuropathy; circumstances that increase the risk of falling (e.g., rough surfaces). Evaluation of relatives at risk: If at-risk minor and adult sibs of an individual with FRDA have not had testing for the FXN pathogenic variant(s) in their family, they should be offered echocardiography surveillance to determine if treatable cardiac manifestations of presymptomatic disease are present. Pregnancy management: Worsening, improving, or unchanged manifestations during pregnancy were each reported with equal frequency by women with FRDA. Close cardiac monitoring and regular testing for diabetes mellitus during pregnancy is recommended in any woman with FRDA. If cesarean section is required, epidural or spinal anesthesia is recommended rather than general anesthesia if possible., FRDA is inherited in an autosomal recessive manner. If both parents are heterozygous for a pathogenic variant in FXN, each sib of an affected individual has at conception a 25% chance of inheriting biallelic FRDA-related genetic alterations, a 50% chance of inheriting one FRDA-related genetic alteration, and a 25% chance of inheriting neither of the familial FRDA-related genetic alterations. Sibs who inherit biallelic FXN pathogenic variants will be affected. Once the FRDA-related genetic alterations have been identified in an affected family member, carrier testing for at-risk relatives and prenatal/preimplantation genetic testing are possible.",
+ "language": "eng",
+ "note": "PMID: 20301458\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1281"
},
{
"id": "genereviews:NBK1423",
@@ -148667,9 +140581,22 @@
},
{
"id": "genereviews:NBK564656",
- "manubot_success": false,
- "link": "https://www.ncbi.nlm.nih.gov/books/NBK564656",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK564656']' timed out after 3 seconds"
+ "manubot_success": true,
+ "link": "http://www.ncbi.nlm.nih.gov/books/NBK564656/",
+ "title": "RFC1 CANVAS / Spectrum Disorder",
+ "type": "chapter",
+ "doi": "",
+ "authors": [
+ ["Andrea", "Cortese"],
+ ["Mary M.", "Reilly"],
+ ["Henry", "Houlden"]
+ ],
+ "publisher": "GeneReviews\u00ae",
+ "issn": "",
+ "date": "1993-01-01",
+ "abstract": "The phenotypic spectrum associated with biallelic RFC1 AAGGG repeat expansion encompasses a range including (1) typical cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS); (2) cerebellar, sensory, and vestibular impairment; (3) more limited phenotypes involving predominantly or exclusively one of the systems involved in balance control; (4) autonomic dysfunction; and (5) cough. Onset begins after age 35 years. In a retrospective study of 100 affected individuals after ten years of disease duration, two thirds had clinical features of CANVAS; 16 had a complex sensory ataxia with cerebellar or vestibular involvement; and 15 had a sensory neuropathy as the only clinically detectable manifestation., The diagnosis of RFC1 CANVAS / spectrum disorder is established in a proband with suggestive findings and biallelic intronic AAGGG pentanucleotide expansions in RFC1 identified by molecular genetic testing that is targeted to detect these expansions. Note that pathogenic RFC1 AAGGG repeat expansions cannot be detected by sequence-based multigene panels or exome sequencing. However, they can be suspected by genome sequencing., Treatment of manifestations: The goals of treatment are to maximize function and reduce complications. Depending on the clinical manifestations, each affected individual should be managed by a multidisciplinary team of relevant specialists such as neurologists, occupational therapists, physical therapists, physiatrists, and (depending on individual needs) speech therapists, respiratory therapists, nutritionists, and gastroenterologists. Surveillance: Routine follow up by multidisciplinary specialists to assess: progression of neurologic findings; mobility, self-help skills; need for alternative communication methods; and aspiration risk and feeding methods. Agents/circumstances to avoid: Medications of known toxicity for peripheral nerves (e.g., neurotoxic chemotherapy agents, pyridoxine), the cerebellum (e.g., phenytoin), or the vestibular system (e.g., aminoglycosides); chronic alcohol consumption., RFC1 CANVAS / spectrum disorder is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for an RFC1 AAGGG repeat expansion, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once biallelic RFC1 AAGGG repeat expansions have been identified in an affected family member, carrier testing for at-risk relatives, prenatal testing for a pregnancy at increased risk, and preimplantation genetic testing are possible.",
+ "language": "eng",
+ "note": "PMID: 33237689\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK564656"
},
{
"id": "genereviews:NBK1513",
@@ -148833,6 +140760,25 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.1101/2023.05.03.23289461"
},
+{
+ "id": "doi:10.17161/2tmg0f25",
+ "manubot_success": true,
+ "title": "A Case of Very Late Onset Spinobulbar Muscular Atrophy with Normal Creatine Kinase",
+ "type": "article-journal",
+ "doi": "10.17161/2tmg0f25",
+ "authors": [
+ ["Joseph", "Conway"],
+ ["Yuebing", "Li"],
+ ["Sakhi", "Bhansali"]
+ ],
+ "publisher": "RRNMF Neuromuscular Journal",
+ "issn": "",
+ "date": "2024-12-17",
+ "link": "https://doi.org/g8wt7z",
+ "abstract": "",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.17161/2tmg0f25"
+},
{
"id": "doi:10.1101/2022.09.12.22279739",
"manubot_success": true,
@@ -149126,3497 +141072,6 @@
},
{
"id": "isbn:978-3-031-66932-3",
- "manubot_success": true,
- "title": "Intellectual and developmental disabilities: a dynamic systems approach",
- "type": "book",
- "doi": "",
- "authors": [],
- "publisher": "Springer",
- "issn": "",
- "date": "2024-01-01",
- "link": "",
- "abstract": "This new reference provides a comprehensive overview of intellectual and developmental disabilities, incorporating multiple perspectives and disciplines (including developmental neuroscience, genetics, psychiatry, and psychology) with a multifaceted approach, offering readers appreciation for the richness of the population and field. It provides readers with an understanding of the developmental, biological, and behavioral aspects of developmental disabilities with the aim of understanding their causes, the differences between disabilities, and familiarity with the prognosis and developmental outcomes for children diagnosed with various developmental disabilities",
- "language": "eng",
- "note": "OCLC: 1456586805\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: isbn:9783031669323"
-},
-{
- "id": "omim:309548",
- "manubot_success": false,
- "link": "https://omim.org/entry/309548",
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-{
- "id": "omim:309510",
- "manubot_success": false,
- "link": "https://omim.org/entry/309510",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/309510']' timed out after 3 seconds"
-},
-{
- "id": "omim:308350",
- "manubot_success": false,
- "link": "https://omim.org/entry/308350",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/308350']' timed out after 3 seconds"
-},
-{
- "id": "omim:300004",
- "manubot_success": false,
- "link": "https://omim.org/entry/300004",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/300004']' timed out after 3 seconds"
-},
-{
- "id": "omim:300215",
- "manubot_success": false,
- "link": "https://omim.org/entry/300215",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/300215']' timed out after 3 seconds"
-},
-{
- "id": "omim:183090",
- "manubot_success": false,
- "link": "https://omim.org/entry/183090",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/183090']' timed out after 3 seconds"
-},
-{
- "id": "omim:164500",
- "manubot_success": false,
- "link": "https://omim.org/entry/164500",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/164500']' timed out after 3 seconds"
-},
-{
- "id": "omim:608768",
- "manubot_success": false,
- "link": "https://omim.org/entry/608768",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/608768']' timed out after 3 seconds"
-},
-{
- "id": "omim:117210",
- "manubot_success": false,
- "link": "https://omim.org/entry/117210",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/117210']' timed out after 3 seconds"
-},
-{
- "id": "omim:105500",
- "manubot_success": false,
- "link": "https://omim.org/entry/105500",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/105500']' timed out after 3 seconds"
-},
-{
- "id": "omim:147791",
- "manubot_success": false,
- "link": "https://omim.org/entry/147791",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/147791']' timed out after 3 seconds"
-},
-{
- "id": "omim:615945",
- "manubot_success": false,
- "link": "https://omim.org/entry/615945",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/615945']' timed out after 3 seconds"
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-{
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- "link": "https://omim.org/entry/136630",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/136630']' timed out after 3 seconds"
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-{
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- "manubot_success": false,
- "link": "https://omim.org/entry/229300",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/229300']' timed out after 3 seconds"
-},
-{
- "id": "omim:618940",
- "manubot_success": false,
- "link": "https://omim.org/entry/618940",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/618940']' timed out after 3 seconds"
-},
-{
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- "link": "https://omim.org/entry/618412",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/618412']' timed out after 3 seconds"
-},
-{
- "id": "omim:186000",
- "manubot_success": false,
- "link": "https://omim.org/entry/186000",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/186000']' timed out after 3 seconds"
-},
-{
- "id": "omim:164310",
- "manubot_success": false,
- "link": "https://omim.org/entry/164310",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/164310']' timed out after 3 seconds"
-},
-{
- "id": "omim:613608",
- "manubot_success": false,
- "link": "https://omim.org/entry/613608",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/613608']' timed out after 3 seconds"
-},
-{
- "id": "omim:105400",
- "manubot_success": false,
- "link": "https://omim.org/entry/105400",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/105400']' timed out after 3 seconds"
-},
-{
- "id": "omim:614153",
- "manubot_success": false,
- "link": "https://omim.org/entry/614153",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/614153']' timed out after 3 seconds"
-},
-{
- "id": "omim:603472",
- "manubot_success": false,
- "link": "https://omim.org/entry/603472",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/603472']' timed out after 3 seconds"
-},
-{
- "id": "omim:618637",
- "manubot_success": false,
- "link": "https://omim.org/entry/618637",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/618637']' timed out after 3 seconds"
-},
-{
- "id": "omim:258450",
- "manubot_success": false,
- "link": "https://omim.org/entry/258450",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/258450']' timed out after 3 seconds"
-},
-{
- "id": "omim:157640",
- "manubot_success": false,
- "link": "https://omim.org/entry/157640",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/157640']' timed out after 3 seconds"
-},
-{
- "id": "omim:604326",
- "manubot_success": false,
- "link": "https://omim.org/entry/604326",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/604326']' timed out after 3 seconds"
-},
-{
- "id": "omim:616488",
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- "link": "https://omim.org/entry/616488",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/616488']' timed out after 3 seconds"
-},
-{
- "id": "omim:601068",
- "manubot_success": false,
- "link": "https://omim.org/entry/601068",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/601068']' timed out after 3 seconds"
-},
-{
- "id": "omim:300123",
- "manubot_success": false,
- "link": "https://omim.org/entry/300123",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/300123']' timed out after 3 seconds"
-},
-{
- "id": "omim:607136",
- "manubot_success": false,
- "link": "https://omim.org/entry/607136",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/607136']' timed out after 3 seconds"
-},
-{
- "id": "omim:187500",
- "manubot_success": false,
- "link": "https://omim.org/entry/187500",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/187500']' timed out after 3 seconds"
-},
-{
- "id": "omim:613267",
- "manubot_success": false,
- "link": "https://omim.org/entry/613267",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/613267']' timed out after 3 seconds"
-},
-{
- "id": "omim:619216",
- "manubot_success": false,
- "link": "https://omim.org/entry/619216",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/619216']' timed out after 3 seconds"
-},
-{
- "id": "omim:600223",
- "manubot_success": false,
- "link": "https://omim.org/entry/600223",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/600223']' timed out after 3 seconds"
-},
-{
- "id": "omim:314390",
- "manubot_success": false,
- "link": "https://omim.org/entry/314390",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/314390']' timed out after 3 seconds"
-},
-{
- "id": "omim:616181",
- "manubot_success": false,
- "link": "https://omim.org/entry/616181",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/616181']' timed out after 3 seconds"
-},
-{
- "id": "omim:609893",
- "manubot_success": false,
- "link": "https://omim.org/entry/609893",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/609893']' timed out after 3 seconds"
-},
-{
- "id": "malacard:KNS007",
- "manubot_success": false,
- "link": "https://www.malacards.org/card/KNS007",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.malacards.org/card/KNS007']' timed out after 3 seconds"
-},
-{
- "id": "genereviews:NBK1196",
- "manubot_success": false,
- "link": "https://www.ncbi.nlm.nih.gov/books/NBK1196",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1196']' timed out after 3 seconds"
-},
-{
- "id": "genereviews:NBK1384",
- "manubot_success": false,
- "link": "https://www.ncbi.nlm.nih.gov/books/NBK1384",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1384']' timed out after 3 seconds"
-},
-{
- "id": "genereviews:NBK1281",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1281/",
- "title": "Friedreich Ataxia",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Sanjay I.", "Bidichandani"],
- ["Martin B.", "Delatycki"],
- ["Marek", "Napierala"],
- ["Antoine", "Duquette"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Typical Friedreich ataxia (FRDA) is characterized by progressive ataxia with onset from early childhood to early adulthood with mean age at onset from 10 to 15 years (range: age two years to the eighth decade). Ataxia, manifesting initially as poor balance when walking, is typically followed by upper-limb ataxia, dysarthria, dysphagia, peripheral motor and sensory neuropathy, spasticity, autonomic disturbance, and often abnormal eye movements and optic atrophy. Hypertrophic cardiomyopathy is present in about two thirds of individuals; occasionally it is diagnosed prior to the onset of ataxia. Diabetes mellitus and impaired glucose tolerance can also occur. Among individuals with FRDA, about 75% have \"typical Friedreich ataxia\" and about 25% of individuals with biallelic FXN full-penetrance GAA repeat expansions have \"atypical Friedreich ataxia\" that includes late-onset FRDA (LOFA) (i.e., onset after age 25 years), very late-onset FRDA (VLOFA) (i.e., onset after age 40 years), and FRDA with retained reflexes (FARR)., The diagnosis of Friedreich ataxia is established in a proband with suggestive findings and biallelic pathogenic variants in FXN identified by molecular genetic testing. The two classes of FXN pathogenic variants are (1) GAA repeat expansions and (2) FXN pathogenic sequence variants, including base substitutions and small indels or large deletions. Approximately 96% of individuals with FRDA have biallelic FXN GAA repeat expansions in intron 1; approximately 4% are compound heterozygotes for an FXN GAA repeat expansion and either an intragenic FXN pathogenic variant or a large deletion., Targeted therapy: Omaveloxolone, an Nrf2 activator, has been shown to slow the progression of FRDA; it is approved in the United States and Europe for individuals age 16 years and older. Supportive care: Multidisciplinary care by specialists in relevant fields, such as neurologists, ophthalmologists, orthoptists, physical therapists, occupational therapists, cardiologists, endocrinologists, speech and language therapists, and psychologists. Surveillance: Routinely scheduled evaluations by the treating multidisciplinary specialists. Agents/circumstances to avoid: Use and misuse of illegal and controlled drugs, as they may affect neuronal well-being and, thus, exacerbate disease manifestations; medications that are toxic or potentially toxic to people with neuropathy; circumstances that increase the risk of falling (e.g., rough surfaces). Evaluation of relatives at risk: If at-risk minor and adult sibs of an individual with FRDA have not had testing for the FXN pathogenic variant(s) in their family, they should be offered echocardiography surveillance to determine if treatable cardiac manifestations of presymptomatic disease are present. Pregnancy management: Worsening, improving, or unchanged manifestations during pregnancy were each reported with equal frequency by women with FRDA. Close cardiac monitoring and regular testing for diabetes mellitus during pregnancy is recommended in any woman with FRDA. If cesarean section is required, epidural or spinal anesthesia is recommended rather than general anesthesia if possible., FRDA is inherited in an autosomal recessive manner. If both parents are heterozygous for a pathogenic variant in FXN, each sib of an affected individual has at conception a 25% chance of inheriting biallelic FRDA-related genetic alterations, a 50% chance of inheriting one FRDA-related genetic alteration, and a 25% chance of inheriting neither of the familial FRDA-related genetic alterations. Sibs who inherit biallelic FXN pathogenic variants will be affected. Once the FRDA-related genetic alterations have been identified in an affected family member, carrier testing for at-risk relatives and prenatal/preimplantation genetic testing are possible.",
- "language": "eng",
- "note": "PMID: 20301458\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1281"
-},
-{
- "id": "genereviews:NBK564656",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK564656/",
- "title": "RFC1 CANVAS / Spectrum Disorder",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Andrea", "Cortese"],
- ["Mary M.", "Reilly"],
- ["Henry", "Houlden"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "The phenotypic spectrum associated with biallelic RFC1 AAGGG repeat expansion encompasses a range including (1) typical cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS); (2) cerebellar, sensory, and vestibular impairment; (3) more limited phenotypes involving predominantly or exclusively one of the systems involved in balance control; (4) autonomic dysfunction; and (5) cough. Onset begins after age 35 years. In a retrospective study of 100 affected individuals after ten years of disease duration, two thirds had clinical features of CANVAS; 16 had a complex sensory ataxia with cerebellar or vestibular involvement; and 15 had a sensory neuropathy as the only clinically detectable manifestation., The diagnosis of RFC1 CANVAS / spectrum disorder is established in a proband with suggestive findings and biallelic intronic AAGGG pentanucleotide expansions in RFC1 identified by molecular genetic testing that is targeted to detect these expansions. Note that pathogenic RFC1 AAGGG repeat expansions cannot be detected by sequence-based multigene panels or exome sequencing. However, they can be suspected by genome sequencing., Treatment of manifestations: The goals of treatment are to maximize function and reduce complications. Depending on the clinical manifestations, each affected individual should be managed by a multidisciplinary team of relevant specialists such as neurologists, occupational therapists, physical therapists, physiatrists, and (depending on individual needs) speech therapists, respiratory therapists, nutritionists, and gastroenterologists. Surveillance: Routine follow up by multidisciplinary specialists to assess: progression of neurologic findings; mobility, self-help skills; need for alternative communication methods; and aspiration risk and feeding methods. Agents/circumstances to avoid: Medications of known toxicity for peripheral nerves (e.g., neurotoxic chemotherapy agents, pyridoxine), the cerebellum (e.g., phenytoin), or the vestibular system (e.g., aminoglycosides); chronic alcohol consumption., RFC1 CANVAS / spectrum disorder is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for an RFC1 AAGGG repeat expansion, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once biallelic RFC1 AAGGG repeat expansions have been identified in an affected family member, carrier testing for at-risk relatives, prenatal testing for a pregnancy at increased risk, and preimplantation genetic testing are possible.",
- "language": "eng",
- "note": "PMID: 33237689\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK564656"
-},
-{
- "id": "pmid:25101480",
- "manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/25101480",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
-{
- "id": "pmid:29939637",
- "manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/29939637",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
-{
- "id": "pmid:20065034",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/20065034",
- "title": "The DNA unwinding element binding protein DUE-B interacts with Cdc45 in preinitiation complex formation.",
- "type": "article-journal",
- "doi": "10.1128/mcb.00710-09",
- "authors": [
- ["A", "Chowdhury"],
- ["G", "Liu"],
- ["M", "Kemp"],
- ["X", "Chen"],
- ["N", "Katrangi"],
- ["S", "Myers"],
- ["M", "Ghosh"],
- ["J", "Yao"],
- ["Y", "Gao"],
- ["P", "Bubulya"],
- ["M", "Leffak"]
- ],
- "publisher": "Molecular and cellular biology",
- "issn": "1098-5549",
- "date": "2010-01-11",
- "abstract": "Template unwinding during DNA replication initiation requires the loading of the MCM helicase activator Cdc45 at replication origins. We show that Cdc45 interacts with the DNA unwinding element (DUE) binding protein DUE-B and that these proteins localize to the DUEs of active replication origins. DUE-B and Cdc45 are not bound at the inactive c-myc replicator in the absence of a functional DUE or at the recently identified ataxin 10 (ATX10) origin, which is silent before disease-related (ATTCT)(n) repeat length expansion of its DUE sequence, despite the presence of the origin recognition complex (ORC) and MCM proteins at these origins. Addition of a heterologous DUE to the ectopic c-myc origin, or expansion of the ATX10 DUE, leads to origin activation, DUE-B binding, and Cdc45 binding. DUE-B, Cdc45, and topoisomerase IIbeta binding protein 1 (TopBP1) form complexes in cell extracts and when expressed from baculovirus vectors. During replication in Xenopus egg extracts, DUE-B and Cdc45 bind to chromatin with similar kinetics, and DUE-B immunodepletion blocks replication and the loading of Cdc45 and a fraction of TopBP1. The coordinated binding of DUE-B and Cdc45 to origins and the physical interactions of DUE-B, Cdc45, and TopBP1 suggest that complexes of these proteins are necessary for replication initiation.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20065034"
-},
-{
- "id": "pmid:29367260",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29367260",
- "title": "Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset.",
- "type": "article-journal",
- "doi": "10.1136/jnnp-2017-317253",
- "authors": [
- ["Sarah", "Wiethoff"],
- ["Emer", "O'Connor"],
- ["Nourelhoda A", "Haridy"],
- ["Suran", "Nethisinghe"],
- ["Nicholas", "Wood"],
- ["Paola", "Giunti"],
- ["Concei\u00e7\u00e3o", "Bettencourt"],
- ["Henry", "Houlden"]
- ],
- "publisher": "Journal of neurology, neurosurgery, and psychiatry",
- "issn": "1468-330X",
- "date": "2018-01-24",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29367260"
-},
-{
- "id": "pmid:",
- "manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
-{
- "id": "omim:309548",
- "manubot_success": false,
- "link": "https://omim.org/entry/309548",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/309548']' timed out after 3 seconds"
-},
-{
- "id": "omim:309510",
- "manubot_success": false,
- "link": "https://omim.org/entry/309510",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/309510']' timed out after 3 seconds"
-},
-{
- "id": "omim:308350",
- "manubot_success": false,
- "link": "https://omim.org/entry/308350",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/308350']' timed out after 3 seconds"
-},
-{
- "id": "omim:300004",
- "manubot_success": false,
- "link": "https://omim.org/entry/300004",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/300004']' timed out after 3 seconds"
-},
-{
- "id": "omim:300215",
- "manubot_success": false,
- "link": "https://omim.org/entry/300215",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/300215']' timed out after 3 seconds"
-},
-{
- "id": "omim:183090",
- "manubot_success": false,
- "link": "https://omim.org/entry/183090",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/183090']' timed out after 3 seconds"
-},
-{
- "id": "omim:164500",
- "manubot_success": false,
- "link": "https://omim.org/entry/164500",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/164500']' timed out after 3 seconds"
-},
-{
- "id": "omim:608768",
- "manubot_success": false,
- "link": "https://omim.org/entry/608768",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/608768']' timed out after 3 seconds"
-},
-{
- "id": "omim:117210",
- "manubot_success": false,
- "link": "https://omim.org/entry/117210",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/117210']' timed out after 3 seconds"
-},
-{
- "id": "omim:105500",
- "manubot_success": false,
- "link": "https://omim.org/entry/105500",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/105500']' timed out after 3 seconds"
-},
-{
- "id": "omim:147791",
- "manubot_success": false,
- "link": "https://omim.org/entry/147791",
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-},
-{
- "id": "omim:615945",
- "manubot_success": false,
- "link": "https://omim.org/entry/615945",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/615945']' timed out after 3 seconds"
-},
-{
- "id": "omim:136630",
- "manubot_success": false,
- "link": "https://omim.org/entry/136630",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/136630']' timed out after 3 seconds"
-},
-{
- "id": "omim:229300",
- "manubot_success": false,
- "link": "https://omim.org/entry/229300",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/229300']' timed out after 3 seconds"
-},
-{
- "id": "omim:618940",
- "manubot_success": false,
- "link": "https://omim.org/entry/618940",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/618940']' timed out after 3 seconds"
-},
-{
- "id": "omim:618412",
- "manubot_success": false,
- "link": "https://omim.org/entry/618412",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/618412']' timed out after 3 seconds"
-},
-{
- "id": "omim:186000",
- "manubot_success": false,
- "link": "https://omim.org/entry/186000",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/186000']' timed out after 3 seconds"
-},
-{
- "id": "omim:164310",
- "manubot_success": false,
- "link": "https://omim.org/entry/164310",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/164310']' timed out after 3 seconds"
-},
-{
- "id": "omim:613608",
- "manubot_success": false,
- "link": "https://omim.org/entry/613608",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/613608']' timed out after 3 seconds"
-},
-{
- "id": "omim:105400",
- "manubot_success": false,
- "link": "https://omim.org/entry/105400",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/105400']' timed out after 3 seconds"
-},
-{
- "id": "omim:614153",
- "manubot_success": false,
- "link": "https://omim.org/entry/614153",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/614153']' timed out after 3 seconds"
-},
-{
- "id": "omim:603472",
- "manubot_success": false,
- "link": "https://omim.org/entry/603472",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/603472']' timed out after 3 seconds"
-},
-{
- "id": "omim:618637",
- "manubot_success": false,
- "link": "https://omim.org/entry/618637",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/618637']' timed out after 3 seconds"
-},
-{
- "id": "omim:258450",
- "manubot_success": false,
- "link": "https://omim.org/entry/258450",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/258450']' timed out after 3 seconds"
-},
-{
- "id": "omim:157640",
- "manubot_success": false,
- "link": "https://omim.org/entry/157640",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/157640']' timed out after 3 seconds"
-},
-{
- "id": "omim:604326",
- "manubot_success": false,
- "link": "https://omim.org/entry/604326",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/604326']' timed out after 3 seconds"
-},
-{
- "id": "omim:616488",
- "manubot_success": false,
- "link": "https://omim.org/entry/616488",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/616488']' timed out after 3 seconds"
-},
-{
- "id": "omim:601068",
- "manubot_success": false,
- "link": "https://omim.org/entry/601068",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/601068']' timed out after 3 seconds"
-},
-{
- "id": "omim:300123",
- "manubot_success": false,
- "link": "https://omim.org/entry/300123",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/300123']' timed out after 3 seconds"
-},
-{
- "id": "omim:607136",
- "manubot_success": false,
- "link": "https://omim.org/entry/607136",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/607136']' timed out after 3 seconds"
-},
-{
- "id": "omim:187500",
- "manubot_success": false,
- "link": "https://omim.org/entry/187500",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/187500']' timed out after 3 seconds"
-},
-{
- "id": "omim:613267",
- "manubot_success": false,
- "link": "https://omim.org/entry/613267",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/613267']' timed out after 3 seconds"
-},
-{
- "id": "omim:619216",
- "manubot_success": false,
- "link": "https://omim.org/entry/619216",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/619216']' timed out after 3 seconds"
-},
-{
- "id": "omim:600223",
- "manubot_success": false,
- "link": "https://omim.org/entry/600223",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/600223']' timed out after 3 seconds"
-},
-{
- "id": "omim:314390",
- "manubot_success": false,
- "link": "https://omim.org/entry/314390",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/314390']' timed out after 3 seconds"
-},
-{
- "id": "omim:616181",
- "manubot_success": false,
- "link": "https://omim.org/entry/616181",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/616181']' timed out after 3 seconds"
-},
-{
- "id": "omim:609893",
- "manubot_success": false,
- "link": "https://omim.org/entry/609893",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/609893']' timed out after 3 seconds"
-},
-{
- "id": "malacard:KNS007",
- "manubot_success": false,
- "link": "https://www.malacards.org/card/KNS007",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.malacards.org/card/KNS007']' timed out after 3 seconds"
-},
-{
- "id": "genereviews:NBK1196",
- "manubot_success": false,
- "link": "https://www.ncbi.nlm.nih.gov/books/NBK1196",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1196']' timed out after 3 seconds"
-},
-{
- "id": "genereviews:NBK1384",
- "manubot_success": false,
- "link": "https://www.ncbi.nlm.nih.gov/books/NBK1384",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1384']' timed out after 3 seconds"
-},
-{
- "id": "pmid:25101480",
- "manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/25101480",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
-{
- "id": "pmid:29939637",
- "manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/29939637",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
-{
- "id": "pmid:39649105",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39649105",
- "title": "Increased nuclear import characterizes aberrant nucleocytoplasmic transport in neurons from patients with spinocerebellar ataxia type 7.",
- "type": "article-journal",
- "doi": "10.3389/fnmol.2024.1478110",
- "authors": [
- ["Joshua G", "Macopson-Jones"],
- ["Maile", "Adams"],
- ["Julien", "Philippe"],
- ["Albert R", "La Spada"]
- ],
- "publisher": "Frontiers in molecular neuroscience",
- "issn": "1662-5099",
- "date": "2024-11-22",
- "abstract": "Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disorder characterized by cerebellar and retinal degeneration. SCA7 is caused by a CAG-polyglutamine repeat expansion in the ataxin-7 gene, which encodes a transcription factor protein that is a core component of the STAGA co-activator complex. As ataxin-7 protein regularly shuttles between the nucleus and the cytosol, we sought to test if polyglutamine-expanded ataxin-7 protein results in nuclear membrane abnormalities or defects in nucleocytoplasmic (N/C) transport.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39649105"
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-{
- "id": "pmid:39638345",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39638345",
- "title": "RuvBL1/2 reduce toxic dipeptide repeat protein burden in multiple models of C9orf72-ALS/FTD.",
- "type": "article-journal",
- "doi": "10.26508/lsa.202402757",
- "authors": [
- ["Christopher P", "Webster"],
- ["Bradley", "Hall"],
- ["Olivia M", "Crossley"],
- ["Dana", "Dauletalina"],
- ["Marianne", "King"],
- ["Ya-Hui", "Lin"],
- ["Lydia M", "Castelli"],
- ["Zih-Liang", "Yang"],
- ["Ian", "Coldicott"],
- ["Ergita", "Kyrgiou-Balli"],
- ["Adrian", "Higginbottom"],
- ["Laura", "Ferraiuolo"],
- ["Kurt J", "De Vos"],
- ["Guillaume M", "Hautbergue"],
- ["Pamela J", "Shaw"],
- ["Ryan Jh", "West"],
- ["Mimoun", "Azzouz"]
- ],
- "publisher": "Life science alliance",
- "issn": "2575-1077",
- "date": "2024-12-05",
- "abstract": "A G4C2 hexanucleotide repeat expansion in",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39638345"
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-{
- "id": "pmid:",
- "manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
-{
- "id": "pmid:39635987",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39635987",
- "title": "The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder.",
- "type": "article-journal",
- "doi": "10.1002/mds.30077",
- "authors": [
- ["Zhongbo", "Chen"],
- ["Pilar", "Alvarez Jerez"],
- ["Claire", "Anderson"],
- ["Martin", "Paucar"],
- ["Jasmaine", "Lee"],
- ["Daniel", "Nilsson"],
- ["Hannah", "Macpherson"],
- ["Annarita", "Scardamaglia"],
- ["Kylie", "Montgomery"],
- ["John", "Hardy"],
- ["Andrew B", "Singleton"],
- ["Arianna", "Tucci"],
- ["Katherine D", "Mathews"],
- ["Ying-Hui", "Fu"],
- ["Martin", "Engvall"],
- ["Jos\u00e9", "Laffita-Mesa"],
- ["Inger", "Nennesmo"],
- ["Anna", "Wedell"],
- ["Louis J", "Pt\u00e1\u010dek"],
- ["Cornelis", "Blauwendraat"],
- ["Emil K", "Gustavsson"],
- ["Per", "Svenningsson"],
- ["Mina", "Ryten"],
- ["Henry", "Houlden"]
- ],
- "publisher": "Movement disorders : official journal of the Movement Disorder Society",
- "issn": "1531-8257",
- "date": "2024-12-05",
- "abstract": "The identification of a heterozygous exonic GGC repeat expansion in ZFHX3 underlying spinocerebellar ataxia type 4 (SCA4) has solved a 25-year diagnostic conundrum. We used adaptive long-read sequencing to decipher the pathogenic expansion in the index Utah family and an unrelated family from Iowa of Swedish ancestry. Contemporaneous to our discovery, other groups identified the same repeat expansion in affected individuals from Utah, Sweden, and Germany, highlighting the current pivotal time for detection of novel repeat expansion disorders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39635987"
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-{
- "id": "omim:309548",
- "manubot_success": false,
- "link": "https://omim.org/entry/309548",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/309548']' timed out after 3 seconds"
-},
-{
- "id": "omim:309510",
- "manubot_success": false,
- "link": "https://omim.org/entry/309510",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/309510']' timed out after 3 seconds"
-},
-{
- "id": "omim:308350",
- "manubot_success": false,
- "link": "https://omim.org/entry/308350",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/308350']' timed out after 3 seconds"
-},
-{
- "id": "omim:300004",
- "manubot_success": false,
- "link": "https://omim.org/entry/300004",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/300004']' timed out after 3 seconds"
-},
-{
- "id": "omim:300215",
- "manubot_success": false,
- "link": "https://omim.org/entry/300215",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/300215']' timed out after 3 seconds"
-},
-{
- "id": "omim:183090",
- "manubot_success": false,
- "link": "https://omim.org/entry/183090",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/183090']' timed out after 3 seconds"
-},
-{
- "id": "omim:164500",
- "manubot_success": false,
- "link": "https://omim.org/entry/164500",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/164500']' timed out after 3 seconds"
-},
-{
- "id": "omim:608768",
- "manubot_success": false,
- "link": "https://omim.org/entry/608768",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/608768']' timed out after 3 seconds"
-},
-{
- "id": "omim:117210",
- "manubot_success": false,
- "link": "https://omim.org/entry/117210",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/117210']' timed out after 3 seconds"
-},
-{
- "id": "omim:105500",
- "manubot_success": false,
- "link": "https://omim.org/entry/105500",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/105500']' timed out after 3 seconds"
-},
-{
- "id": "omim:147791",
- "manubot_success": false,
- "link": "https://omim.org/entry/147791",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/147791']' timed out after 3 seconds"
-},
-{
- "id": "omim:615945",
- "manubot_success": false,
- "link": "https://omim.org/entry/615945",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/615945']' timed out after 3 seconds"
-},
-{
- "id": "omim:136630",
- "manubot_success": false,
- "link": "https://omim.org/entry/136630",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/136630']' timed out after 3 seconds"
-},
-{
- "id": "omim:229300",
- "manubot_success": false,
- "link": "https://omim.org/entry/229300",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/229300']' timed out after 3 seconds"
-},
-{
- "id": "omim:618940",
- "manubot_success": false,
- "link": "https://omim.org/entry/618940",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/618940']' timed out after 3 seconds"
-},
-{
- "id": "omim:618412",
- "manubot_success": false,
- "link": "https://omim.org/entry/618412",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/618412']' timed out after 3 seconds"
-},
-{
- "id": "omim:186000",
- "manubot_success": false,
- "link": "https://omim.org/entry/186000",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/186000']' timed out after 3 seconds"
-},
-{
- "id": "omim:164310",
- "manubot_success": false,
- "link": "https://omim.org/entry/164310",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/164310']' timed out after 3 seconds"
-},
-{
- "id": "omim:613608",
- "manubot_success": false,
- "link": "https://omim.org/entry/613608",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/613608']' timed out after 3 seconds"
-},
-{
- "id": "omim:105400",
- "manubot_success": false,
- "link": "https://omim.org/entry/105400",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/105400']' timed out after 3 seconds"
-},
-{
- "id": "omim:614153",
- "manubot_success": false,
- "link": "https://omim.org/entry/614153",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/614153']' timed out after 3 seconds"
-},
-{
- "id": "omim:603472",
- "manubot_success": false,
- "link": "https://omim.org/entry/603472",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/603472']' timed out after 3 seconds"
-},
-{
- "id": "omim:618637",
- "manubot_success": false,
- "link": "https://omim.org/entry/618637",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/618637']' timed out after 3 seconds"
-},
-{
- "id": "omim:258450",
- "manubot_success": false,
- "link": "https://omim.org/entry/258450",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/258450']' timed out after 3 seconds"
-},
-{
- "id": "omim:157640",
"manubot_success": false,
- "link": "https://omim.org/entry/157640",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/157640']' timed out after 3 seconds"
-},
-{
- "id": "omim:604326",
- "manubot_success": false,
- "link": "https://omim.org/entry/604326",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/604326']' timed out after 3 seconds"
-},
-{
- "id": "omim:616488",
- "manubot_success": false,
- "link": "https://omim.org/entry/616488",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/616488']' timed out after 3 seconds"
-},
-{
- "id": "omim:601068",
- "manubot_success": false,
- "link": "https://omim.org/entry/601068",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/601068']' timed out after 3 seconds"
-},
-{
- "id": "omim:300123",
- "manubot_success": false,
- "link": "https://omim.org/entry/300123",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/300123']' timed out after 3 seconds"
-},
-{
- "id": "omim:607136",
- "manubot_success": false,
- "link": "https://omim.org/entry/607136",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/607136']' timed out after 3 seconds"
-},
-{
- "id": "omim:187500",
- "manubot_success": false,
- "link": "https://omim.org/entry/187500",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/187500']' timed out after 3 seconds"
-},
-{
- "id": "omim:613267",
- "manubot_success": false,
- "link": "https://omim.org/entry/613267",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/613267']' timed out after 3 seconds"
-},
-{
- "id": "omim:619216",
- "manubot_success": false,
- "link": "https://omim.org/entry/619216",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/619216']' timed out after 3 seconds"
-},
-{
- "id": "omim:600223",
- "manubot_success": false,
- "link": "https://omim.org/entry/600223",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://omim.org/entry/600223']' timed out after 3 seconds"
-},
-{
- "id": "omim:314390",
- "manubot_success": false,
- "link": "https://omim.org/entry/314390",
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-{
- "id": "pmid:39654947",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39654947",
- "title": "Genetics architecture of spontaneous coronary artery dissection in an Italian cohort.",
- "type": "article-journal",
- "doi": "10.3389/fcvm.2024.1486273",
- "authors": [
- ["Marta", "Casula"],
- ["Daniela", "Marchetti"],
- ["Lucia", "Trevisan"],
- ["Laura", "Pezzoli"],
- ["Matteo", "Bellini"],
- ["Serena", "Patrone"],
- ["Antonio", "Zingarelli"],
- ["Fabio", "Gotta"],
- ["Maria", "Iascone"],
- ["Paola", "Mandich"]
- ],
- "publisher": "Frontiers in cardiovascular medicine",
- "issn": "2297-055X",
- "date": "2024-11-25",
- "abstract": "Spontaneous coronary artery dissection (SCAD) is a relevant non-atherosclerotic cause of acute coronary syndrome with a complex genetic architecture. Recent discoveries have highlighted the potential role of miRNAs and protein-coding genes involved in the processing of small RNAs in the pathogenesis of SCAD. Furthermore, there may be a connection between SCAD and the increased cardiovascular risk observed in fragile X premutation carriers as well as a correlation with pathogenetic variants in genes encoding for collagen and extracellular matrix, which are related to connective tissue disorders (CTDs). In our cohort of 15 Italian SCAD patients, a total of 37 rare variants were identified in 34 genes using whole exome sequencing (WES) and TRIO-WES analysis when both parents were available. Three likely pathogenic/pathogenetic variants were found in genes previously associated with SCAD and CTDs (",
- "language": "en",
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-{
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- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39651202",
- "title": "Insights into the causes and consequences of DNA repeat expansions from 700,000 biobank participants.",
- "type": "article-journal",
- "doi": "10.1101/2024.11.25.625248",
- "authors": [
- ["Margaux L A", "Hujoel"],
- ["Robert E", "Handsaker"],
- ["Nolan", "Kamitaki"],
- ["Ronen E", "Mukamel"],
- ["Simone", "Rubinacci"],
- ["Pier F", "Palamara"],
- ["Steven A", "McCarroll"],
- ["Po-Ru", "Loh"]
- ],
- "publisher": "bioRxiv : the preprint server for biology",
- "issn": "2692-8205",
- "date": "2024-11-26",
- "abstract": "Expansions and contractions of tandem DNA repeats are a source of genetic variation in human populations and in human tissues: some expanded repeats cause inherited disorders, and some are also somatically unstable. We analyzed DNA sequence data, derived from the blood cells of >700,000 participants in UK Biobank and the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39651202"
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-{
- "id": "pmid:39651830",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39651830",
- "title": "A Population-Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank.",
- "type": "article-journal",
- "doi": "10.1002/mds.30073",
- "authors": [
- ["Chris", "Clarkson"],
- ["Zhongbo", "Chen"],
- ["Clarissa", "Rocca"],
- ["Bharati", "Jadhav"],
- ["Kristina", "Iba\u00f1ez"],
- ["Mina", "Ryten"],
- ["Andrew J", "Sharp"],
- ["Henry", "Houlden"],
- ["Arianna", "Tucci"]
- ],
- "publisher": "Movement disorders : official journal of the Movement Disorder Society",
- "issn": "1531-8257",
- "date": "2024-12-09",
- "abstract": "A CAG repeat expansion in THAP11 was recently found to be associated with spinocerebellar ataxia in two Chinese families. Expanded repeats ranged from 45 to 100\u2009units, with CAA sequence interruptions in the 5' region and an uninterrupted CAG tract in the 3' tail.",
- "language": "en",
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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- "link": "https://omim.org/entry/616181",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/616181. Skipping"
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-{
- "id": "omim:609893",
- "manubot_success": false,
- "link": "https://omim.org/entry/609893",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/609893. Skipping"
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-{
- "id": "malacard:KNS007",
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-{
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- "link": "https://www.ncbi.nlm.nih.gov/books/NBK1196",
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-{
- "id": "genereviews:NBK1384",
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- "link": "https://www.ncbi.nlm.nih.gov/books/NBK1384",
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-{
- "id": "pmid:39643839",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39643839",
- "title": "Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy.",
- "type": "article-journal",
- "doi": "10.1007/s10072-024-07826-9",
- "authors": [
- ["Martina", "Rimoldi"],
- ["Sabrina", "Lucchiari"],
- ["Serena", "Pagliarani"],
- ["Giovanni", "Meola"],
- ["Giacomo Pietro", "Comi"],
- ["Elena", "Abati"]
- ],
- "publisher": "Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology",
- "issn": "1590-3478",
- "date": "2024-12-07",
- "abstract": "Myotonic dystrophies (DM) encompass a group of complex genetic disorders characterized by progressive muscle weakness with myotonia and multisystemic involvement. The aim of our paper is to synthesize key findings and advancements in the understanding of DM, and to underline the multidisciplinary approach to DM, emphasizing the importance of genetic counseling, comprehensive clinical care, and symptom management. We discuss the genetic basis of DM, emphasizing the role of repeat expansions in disease pathogenesis, as well as cellular and animal models utilized for studying DM mechanisms and testing potential therapies. Diagnostic challenges, such as determining the size of disease expansions and assessing mosaicism, are elucidated alongside emerging genetic testing methods. Therapeutic strategies, mainly for DM1, are also explored, encompassing small molecules, nucleic acid-based therapies (NATs), and genome/transcriptome engineering. The challenges of such a therapeutic delivery and immunogenic response and the importance of innovative strategies, including viral vectors and AAV serotypes, are highlighted within the text. While no curative treatments have been approved, supportive and palliative care remains essential, with a focus on addressing multisystemic complications and maintaining functional independence. Continued exploration of these therapeutic advancements offers hope for comprehensive disease management and potentially curative therapies for DM1 and related disorders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39643839"
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-{
- "id": "pmid:39572770",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39572770",
- "title": "Huntingtin CAG repeat size variations below the Huntington's disease threshold: associations with depression, anxiety and basal ganglia structure.",
- "type": "article-journal",
- "doi": "10.1038/s41431-024-01737-1",
- "authors": [
- ["Magdalena", "Vater"],
- ["Nicolas", "Rost"],
- ["Gertrud", "Eckstein"],
- ["Susann", "Sauer"],
- ["Alina", "Tontsch"],
- ["Angelika", "Erhardt"],
- ["Susanne", "Lucae"],
- ["Tanja", "Br\u00fcckl"],
- ["Thomas", "Klopstock"],
- ["Philipp G", "S\u00e4mann"],
- ["Elisabeth B", "Binder"]
- ],
- "publisher": "European journal of human genetics : EJHG",
- "issn": "1476-5438",
- "date": "2024-11-21",
- "abstract": "Huntington's disease (HD) is strongly associated with psychiatric symptoms, yet, associations between huntingtin gene (HTT) CAG repeat size variations and psychiatric phenotypes outside the HD complex are still under-investigated. In this genetic case-control study we compared the distribution of HTT CAG repeat sizes in predefined ranges between patients with major depressive disorder (MDD) (n\u2009=\u20092136) and anxiety disorders (ANX) (n\u2009=\u2009493), and healthy controls (CON) (n\u2009=\u20091566). We used regression models to study interactions between the alleles and associations with fine-granular clinical phenotypes and basal ganglia structure. HD mutations in the range of incomplete penetrance (36-39 repeats) were not overrepresented in patients. In participants older than 48 years, 13-20 repeats on both HTT alleles were associated with a reduced ANX risk whereas a 13-20\u00a0|\u00a021-26 combination was associated with an increased ANX risk. Post-hoc analyses confirmed a turning point around 21 repeats and trends in the same direction were detected for MDD. The joint patient\u00a0|\u00a0CON analysis of the full spectrum of allele combinations confirmed interaction effects and age-dependent allele\u00a0|\u00a0risk profiles. A short-by-long interaction effect and an age-dependent negative correlation of the short allele on the nucleus accumbens volume was detected, independently of the diagnostic group. In conclusion, we revealed that HTT CAG repeat sizes of both alleles in the non-HD range are associated with a risk modulation for common psychiatric disorders as well as basal ganglia structure differences in an age-dependent way, possibly implying that normal variation of the functionally diverse wildtype huntingtin protein may impact brain function.",
- "language": "en",
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-{
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-{
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-{
- "id": "pmid:39569876",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39569876",
- "title": "(TTTCA)exp Drives the Genotype-Phenotype Correlation and Genetic Anticipation in FCMTE1.",
- "type": "article-journal",
- "doi": "10.1002/mds.30057",
- "authors": [
- ["Xinhui", "Chen"],
- ["Bo", "Wang"],
- ["Haibin", "Xia"],
- ["Haotian", "Wang"],
- ["Dehao", "Yang"],
- ["Miao", "Chen"],
- ["Huijun", "Yu"],
- ["Fan", "Zhang"],
- ["Yixin", "Kang"],
- ["Yiling", "Chen"],
- ["Nan", "Jin"],
- ["Lebo", "Wang"],
- ["Peng", "Liu"],
- ["Fei", "Xie"],
- ["Aisi", "Fu"],
- ["Ben", "Hu"],
- ["Zhiyuan", "Ouyang"],
- ["Sheng", "Wu"],
- ["Yao", "Ding"],
- ["Junfeng", "Ji"],
- ["Shuang", "Wang"],
- ["Wei", "Luo"],
- ["Zhidong", "Cen"]
- ],
- "publisher": "Movement disorders : official journal of the Movement Disorder Society",
- "issn": "1531-8257",
- "date": "2024-11-21",
- "abstract": "The pentanucleotide (TTTCA) repeat expansion (exp) insertion, along with the accompanying (TTTTA)exp, causes familial cortical myoclonic tremor with epilepsy (FCMTE). The genotype-phenotype correlations and intergenerational instabilities related to (TTTCA)exp and (TTTTA)exp are still unclear.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39569876"
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-{
- "id": "pmid:39694906",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39694906",
- "title": "Enhancing Aesthetics in Bilateral DIEP Flap Breast Reconstruction: the Role of Tissue Pre-Expansion.",
- "type": "article-journal",
- "doi": "10.1007/s00266-024-04610-0",
- "authors": [
- ["Robert Jonathan", "Musmann"],
- ["Christoph", "Andree"],
- ["Andreas", "Wolter"],
- ["Mazen", "Hagouan"],
- ["Beatrix", "Munder"],
- ["Dirk", "Janku"],
- ["Marc", "Daniels"],
- ["Kristin", "Becker"],
- ["Alan", "Oramary"],
- ["Julia", "Bukowiecki"],
- ["Annabelle", "Bromba"],
- ["Nora", "Stockhausen"],
- ["Katrin", "Seidenst\u00fccker"],
- ["Sonia", "Fertsch"]
- ],
- "publisher": "Aesthetic plastic surgery",
- "issn": "1432-5241",
- "date": "2024-12-18",
- "abstract": "Achieving symmetrical outcomes in bilateral autologous breast reconstruction is challenging, particularly in cases of asymmetrical recipient sites. Tissue pre-expansion is proposed to improve aesthetics by enlarging the skin envelope for refined breast shaping. This study examines its efficacy in bilateral DIEP flap reconstructions.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39694906"
-},
-{
- "id": "pmid:39699045",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39699045",
- "title": "Genetic Analysis of GCA Repeats in the GLS Gene: Implications for Undiagnosed Ataxia and Spinocerebellar Ataxia 3 in Mainland China.",
- "type": "article-journal",
- "doi": "10.1002/mds.30083",
- "authors": [
- ["Lijing", "Lei"],
- ["Linliu", "Peng"],
- ["Linlin", "Wan"],
- ["Zhao", "Chen"],
- ["Chunrong", "Wang"],
- ["Huirong", "Peng"],
- ["Rong", "Qiu"],
- ["Beisha", "Tang"],
- ["Hong", "Jiang"]
- ],
- "publisher": "Movement disorders : official journal of the Movement Disorder Society",
- "issn": "1531-8257",
- "date": "2024-12-19",
- "abstract": "Recent studies have reported that expanded GCA repeats in the GLS gene can cause glutaminase deficiency with ataxia phenotype. However, to data, no studies have investigated the distribution and role of GCA repeats in the GLS gene of Chinese individuals.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39699045"
-},
-{
- "id": "pmid:39711523",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39711523",
- "title": "A robust evaluation of TDP-43, poly GP, cellular pathology and behavior in a AAV- C9ORF72 (G 4 C 2 ) 66 mouse model.",
- "type": "article-journal",
- "doi": "10.21203/rs.3.rs-5221595/v1",
- "authors": [
- ["Emily G", "Thompson"],
- ["Olivia", "Spead"],
- ["S Can", "Akerman"],
- ["Carrie", "Curcio"],
- ["Benjamin L", "Zaepfel"],
- ["Erica R", "Kent"],
- ["Thomas", "Philips"],
- ["Balaji G", "Vijayakumar"],
- ["Anna", "Zacco"],
- ["Weibo", "Zhou"],
- ["Guhan", "Nagappan"],
- ["Jeffrey D", "Rothstein"]
- ],
- "publisher": "Research square",
- "issn": "2693-5015",
- "date": "2024-12-10",
- "abstract": "The G",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39711523"
-},
-{
- "id": "pmid:39709476",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39709476",
- "title": "Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion.",
- "type": "article-journal",
- "doi": "10.1186/s13024-024-00790-0",
- "authors": [
- ["Evan", "Udine"],
- ["NiCole A", "Finch"],
- ["Mariely", "DeJesus-Hernandez"],
- ["Jazmyne L", "Jackson"],
- ["Matthew C", "Baker"],
- ["Siva Arumugam", "Saravanaperumal"],
- ["Eric", "Wieben"],
- ["Mark T W", "Ebbert"],
- ["Jaimin", "Shah"],
- ["Leonard", "Petrucelli"],
- ["Rosa", "Rademakers"],
- ["Bj\u00f6rn", "Oskarsson"],
- ["Marka", "van Blitterswijk"]
- ],
- "publisher": "Molecular neurodegeneration",
- "issn": "1750-1326",
- "date": "2024-12-21",
- "abstract": "The gene C9orf72 harbors a non-coding hexanucleotide repeat expansion known to cause amyotrophic lateral sclerosis and frontotemporal dementia. While previous studies have estimated the length of this repeat expansion in multiple tissues, technological limitations have impeded researchers from exploring additional features, such as methylation levels.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39709476"
-},
-{
- "id": "pmid:39703094",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39703094",
- "title": "C21ORF2 mutations point towards primary cilia dysfunction in amyotrophic lateral sclerosis.",
- "type": "article-journal",
- "doi": "10.1093/brain/awae331",
- "authors": [
- ["Mathias", "De Decker"],
- ["Pavol", "Zelina"],
- ["Thomas G", "Moens"],
- ["Jimmy", "Beckers"],
- ["Matilde", "Contardo"],
- ["Katarina Stoklund", "Dittlau"],
- ["Evelien", "Van Schoor"],
- ["Alicja", "Ronisz"],
- ["Kristel", "Eggermont"],
- ["Matthieu", "Moisse"],
- ["Siddharthan", "Chandran"],
- ["Jan H", "Veldink"],
- ["Dietmar Rudolf", "Thal"],
- ["Ludo", "Van Den Bosch"],
- ["R Jeroen", "Pasterkamp"],
- ["Philip", "Van Damme"]
- ],
- "publisher": "Brain : a journal of neurology",
- "issn": "1460-2156",
- "date": "2024-12-20",
- "abstract": "Progressive loss of motor neurons is the hallmark of the neurodegenerative disease amyotrophic lateral sclerosis (ALS), but the underlying disease mechanisms remain incompletely understood. In this study, we investigate the effects of C21ORF2 mutations, a gene recently linked to ALS, and find that primary cilia are dysfunctional. Human patient-derived mutant C21ORF2 motor neurons have a reduced ciliary frequency and length. We report that C21ORF2 is located at the basal body of the primary cilium, and mutations associated with ALS alter this localization. Furthermore, we show that a reduction of C21ORF2 levels in cell lines and motor neurons is sufficient to cause fewer primary cilia and reduced cilial length. This ciliary dysfunction leads to defective downstream sonic hedgehog signalling and reduces the expression of cellular retinoic acid binding protein 1 (CRABP1), a protein involved in motor neuron maintenance and survival. In a compartmentalized co-culture system of motor neurons and muscle cells, these ciliary defects were associated with a reduced ability of neuromuscular junction formation. Interestingly, these cilia defects are seemingly not restricted to C21ORF2 ALS, as we also observed perturbed primary cilia in cultured motor neurons and post-mortem motor cortex from patients with the most common genetic subtype of ALS caused by repeat expansions in the C9ORF72 gene. Finally, overexpression of C21ORF2 in mutant C21ORF2 motor neurons rescued the ciliary frequency and length, CRAPBP1 expression and neuromuscular junction formation, confirming the importance of primary cilia for motor neuron function. These results point towards primary cilia dysfunction contributing to motor neuron degeneration in ALS and open new avenues for further research and interventions for this as yet untreatable disease.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39703094"
-},
-{
- "id": "pmid:39670345",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39670345",
- "title": "Unraveling the molecular basis for G-quadruplex-binders to ALS/FTD-associated G4C2 repeats of the C9orf72 gene.",
- "type": "article-journal",
- "doi": "10.1002/cbic.202400974",
- "authors": [
- ["Luisa", "D'Anna"],
- ["Darren", "Wragg"],
- ["Daniela", "Mauro"],
- ["Simona", "Rubino"],
- ["Alessio", "Terenzi"],
- ["Giampaolo", "Barone"],
- ["Sophie", "Thomas"],
- ["Angela", "Casini"],
- ["Riccardo", "Bonsignore"],
- ["Angelo", "Spinello"]
- ],
- "publisher": "Chembiochem : a European journal of chemical biology",
- "issn": "1439-7633",
- "date": "2024-12-13",
- "abstract": "The most recurrent familial cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is the presence of an abnormal number of intronic GGGGCC (G4C2) repetitions in the C9orf72 gene, which has been proposed to drive ALS/FTD pathogenesis. Recently, it has been shown that such G4C2 repetitions can fold into G-quadruplex (G4) secondary structures. These G4s have been selectively stabilized by small-molecule binders, furnishing proof of principle that targeting these non-canonical nucleic acid sequences represents a novel and effective therapeutic strategy to tackle neurodegenerative disorders. However, precise information on the mechanism of action of these compounds is still lacking. Here, by performing in silico investigations, we unraveled the molecular basis for the selectivity of a series of known structurally related C9orf72 G4-binders. Moreover, we investigated the binding properties of a strong and selective metal-based G4 stabilizer, the AuI bis-N-heterocyclic carbene (NHC) complex - Au(TMX)2 - showing that it moderately stabilizes G4C2 G4 RNA by F\u00f6rster resonance energy transfer (FRET) DNA melting assays. Using metadynamics (metaD) simulations, the Au(TMX)2 binding mode and the associated free-energy landscape were also evaluated. This information paves the way for developing improved compounds to tackle ALS/FTD neurodegenerative disorders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39670345"
-},
-{
- "id": "pmid:39669124",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39669124",
- "title": "",
- "type": "article-journal",
- "doi": "10.1093/narmme/ugae019",
- "authors": [
- ["Mila", "Mirceta"],
- ["Monika H M", "Schmidt"],
- ["Natalie", "Shum"],
- ["Tanya K", "Prasolava"],
- ["Bryanna", "Meikle"],
- ["Stella", "Lanni"],
- ["Mohiuddin", "Mohiuddin"],
- ["Paul M", "McKeever"],
- ["Ming", "Zhang"],
- ["Minggao", "Liang"],
- ["Ilse", "van der Werf"],
- ["Stefaan", "Scheers"],
- ["Patrick A", "Dion"],
- ["Peixiang", "Wang"],
- ["Michael D", "Wilson"],
- ["Theresa", "Abell"],
- ["Elliot A", "Philips"],
- ["\u0141ukasz J", "Sznajder"],
- ["Maurice S", "Swanson"],
- ["Mustafa", "Mehkary"],
- ["Mahreen", "Khan"],
- ["Katsuyuki", "Yokoi"],
- ["Christine", "Jung"],
- ["Pieter J", "de Jong"],
- ["Catherine H", "Freudenreich"],
- ["Philip", "McGoldrick"],
- ["Ryan K C", "Yuen"],
- ["Agessandro", "Abrah\u00e3o"],
- ["Julia", "Keith"],
- ["Lorne", "Zinman"],
- ["Janice", "Robertson"],
- ["Ekaterina", "Rogaeva"],
- ["Guy A", "Rouleau"],
- ["R Frank", "Kooy"],
- ["Christopher E", "Pearson"]
- ],
- "publisher": "NAR molecular medicine",
- "issn": "2976-856X",
- "date": "2024-11-12",
- "abstract": "The hyper-unstable Chr9p21 locus, harbouring the interferon gene cluster, oncogenes and",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39669124"
-},
-{
- "id": "pmid:39703464",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39703464",
- "title": "Updated Structure of",
- "type": "article-journal",
- "doi": "10.1212/nxg.0000000000200220",
- "authors": [
- ["Martin", "Wendlandt"],
- ["Hannes", "Erdmann"],
- ["Simone", "Rost"],
- ["Morghan C", "Lucas"],
- ["Kerstin", "Becker"],
- ["Stephanie", "Kleinle"],
- ["Manuela", "Timmer"],
- ["Andrea", "Bier"],
- ["Gilbert", "Wunderlich"],
- ["Stephan", "Wenninger"],
- ["Maggie C", "Walter"],
- ["Teresa", "Neuhann"],
- ["Benedikt", "Schoser"],
- ["Elke", "Holinski-Feder"],
- ["Angela", "Abicht"]
- ],
- "publisher": "Neurology. Genetics",
- "issn": "2376-7839",
- "date": "2024-12-18",
- "abstract": "Myotonic dystrophy type 2 (DM2) is a multisystemic repeat disorder caused by the expansion of an unstable CCTG tetranucleotide repeat in the noncoding region of the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39703464"
-},
-{
- "id": "pmid:39713478",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39713478",
- "title": "Modulation of the JAK2-STAT3 pathway promotes expansion and maturation of human iPSCs-derived myogenic progenitor cells.",
- "type": "article-journal",
- "doi": "10.1101/2024.12.09.624203",
- "authors": [
- ["Luca", "Caputo"],
- ["Cedomir", "Stamenkovic"],
- ["Matthew T", "Tierney"],
- ["Maria Sofia", "Falzarano"],
- ["Rhonda", "Bassel-Duby"],
- ["Alessandra", "Ferlini"],
- ["Eric N", "Olson"],
- ["Pier Lorenzo", "Puri"],
- ["Alessandra", "Sacco"]
- ],
- "publisher": "bioRxiv : the preprint server for biology",
- "issn": "2692-8205",
- "date": "2024-12-10",
- "abstract": "Generation of",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39713478"
-},
-{
- "id": "pmid:39710066",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39710066",
- "title": "High-resolution repeat structure analysis in molecular diagnostics of myotonic dystrophy type 1 using short-read whole genome sequencing.",
- "type": "article-journal",
- "doi": "10.1016/j.mcp.2024.102005",
- "authors": [
- ["Ingrid", "Lojova"],
- ["Marcel", "Kucharik"],
- ["Zuzana", "P\u00f6s"],
- ["Andrej", "Balaz"],
- ["Andrea", "Zatkova"],
- ["Eva Tothova", "Tarova"],
- ["Jaroslav", "Budis"],
- ["Ludevit", "Kadasi"],
- ["Tomas", "Szemes"],
- ["Jan", "Radvanszky"]
- ],
- "publisher": "Molecular and cellular probes",
- "issn": "1096-1194",
- "date": "2024-12-20",
- "abstract": "Myotonic dystrophy type 1 (DM1) is a serious multisystem disorder caused by GCA repeat expansions in the DMPK gene. Early and accurate diagnosis, often requiring reliable DNA-diagnostic techniques, is critical for preventing life-threatening cardiac complications. Clinically, two main diagnostic challenges exist. Firstly, because of overlapping symptomatology with other conditions, conventional DNA-testing methods focusing on DM1 expansion detection ensure diagnostic results only in a small subset of patients, and frequently, further DNA-testing in remaining cases is necessary. Secondly, because of variable symptomatology and age of onset, not all DM1 patients are referred for DM1 genetic testing, leading to unrecognized but at-risk cases. When using conventional methods, the main technical problems are expanded-allele sizing and sensitivity to the presence of sequence interruptions. On a set of 50 individual genomes, including ten DM1 patients, we tested the performance of short-read whole-genome sequencing (WGS), one of the most up-to-date molecular testing methods. We identified all expansion-range DM1 alleles and characterized sequence interruptions in seven expansion-range/premutation-range alleles. Although neither the tested conventional methods, nor WGS allowed expanded-allele sizing, conventional methods provided higher sizing limits for normal-range alleles. Genotyping concordance rate was found to be 95-99%. WGS was found to be superior in elucidating the sequence structure of the motifs, even if they fall outside the sizing limit (from partial reads). In addition, WGS enables the identification of genetic modifiers in other genes and the detection of alternative diagnoses in DM1-negative patients by extension of the bioinformatic evaluation of the generated data.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39710066"
-},
-{
- "id": "pmid:39679849",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39679849",
- "title": "Identification of ZNF850 as a novel CTG repeat expansion-related gene in myotonic dystrophy type 1 patient-derived iPSCs.",
- "type": "article-journal",
- "doi": "10.1093/hmg/ddae186",
- "authors": [
- ["Masayoshi", "Kamon"],
- ["Shuji", "Wakatsuki"],
- ["Masayuki", "Nakamori"],
- ["Masanori P", "Takahashi"],
- ["Madoka", "Mori-Yoshimura"],
- ["Hirofumi", "Komaki"],
- ["Toshiyuki", "Araki"]
- ],
- "publisher": "Human molecular genetics",
- "issn": "1460-2083",
- "date": "2024-12-16",
- "abstract": "Myotonic dystrophy type 1 (DM1) is a dominantly inherited multi-system disease caused by expanded CTG repeats in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene. Similar to other repeat disorders, the expanded trinucleotide repeat is unstable and demonstrates a tendency to increase repeat size with age in affected tissues. DNA mismatch repair system is implicated in somatic instability. It has been demonstrated that DM1 patient-derived induced pluripotent stem cells (DM1-iPSCs) show repeat instability, in which involvement of mismatch repair proteins has been suggested. Here we identified ZNF850 as a novel CTG repeat expansion-related molecule in DM1-iPSCs. ZNF850 was downregulated in a DM1-iPSC clone whose CTG repeat is exceptionally stable. We found that RNAi-mediated ZNF850 downregulation in DM1-iPSCs significantly reduced the repeat expansion and resulting instability. In adult skeletal muscle tissue of DM1 patients, ZNF850 expression levels were positively correlated with the repeat size. Furthermore, we found that ZNF850 protein can bind to the expanded CTG repeat sequence, and is located in proximity to MutS\u03b2 components. These results suggest that ZNF850 might play a role in repeat instability in DM1 by recruiting MutS\u03b2 to the repeat sequence.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39679849"
-},
-{
- "id": "pmid:39666057",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39666057",
- "title": "No evidence for association between GAA-FGF14 expansion and early onset cerebellar ataxia: a study on 85 undiagnosed patients.",
- "type": "article-journal",
- "doi": "10.1007/s00415-024-12765-8",
- "authors": [
- ["Clarisse", "Delvallee"],
- ["Nad\u00e8ge", "Calmels"],
- ["Thomas", "Bogdan"],
- ["Christine", "Tranchant"],
- ["Mathieu", "Anheim"],
- ["Thomas", "Wirth"]
- ],
- "publisher": "Journal of neurology",
- "issn": "1432-1459",
- "date": "2024-12-12",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39666057"
-},
-{
- "id": "pmid:39666053",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39666053",
- "title": "How to distinguish spinocerebellar ataxia 27B from late onset cerebellar ataxia: insights from a case-control study.",
- "type": "article-journal",
- "doi": "10.1007/s00415-024-12738-x",
- "authors": [
- ["Raquel", "Pinheiro-Barbosa"],
- ["Cheick", "Ciss\u00e9"],
- ["Paulo", "Bastos"],
- ["Cl\u00e9mence", "Leung"],
- ["Anne Pavy-le", "Traon"],
- ["Marc", "Kermorgant"],
- ["Fabrice", "Bonneville"],
- ["Mathilde", "Renaud"],
- ["Cecile", "Bonnet"],
- ["Marion", "Wandzel"],
- ["Virginie", "Roth"],
- ["Olivier", "Rascol"],
- ["Fabienne", "Ory-Magne"],
- ["Margherita", "Fabbri"]
- ],
- "publisher": "Journal of neurology",
- "issn": "1432-1459",
- "date": "2024-12-12",
- "abstract": "Spinocerebellar ataxia 27B is the most common genetic late onset cerebellar ataxia (LOCA). However, it commonly overlaps with other genetic LOCA as with the cerebellar form of multiple system atrophy (MSA-C).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39666053"
-},
-{
- "id": "pmid:39684429",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39684429",
- "title": "Ascorbic Acid Ameliorates Molecular and Developmental Defects in Human-Induced Pluripotent Stem Cell and Cerebral Organoid Models of Fragile X Syndrome.",
- "type": "article-journal",
- "doi": "10.3390/ijms252312718",
- "authors": [
- ["Keith M", "Gunapala"],
- ["Aseel", "Gadban"],
- ["Faiza", "Noreen"],
- ["Primo", "Sch\u00e4r"],
- ["Nissim", "Benvenisty"],
- ["Verdon", "Taylor"]
- ],
- "publisher": "International journal of molecular sciences",
- "issn": "1422-0067",
- "date": "2024-11-26",
- "abstract": "Fragile X Syndrome (FX) is the most common form of inherited cognitive impairment and falls under the broader category of Autism Spectrum Disorders (ASD). FX is caused by a CGG trinucleotide repeat expansion in the non-coding region of the X-linked",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39684429"
-},
-{
- "id": "pmid:39713241",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39713241",
- "title": "Mutant huntingtin protein decreases with CAG repeat expansion: implications for therapeutics and bioassays.",
- "type": "article-journal",
- "doi": "10.1093/braincomms/fcae410",
- "authors": [
- ["Christian", "Landles"],
- ["Georgina F", "Osborne"],
- ["Jemima", "Phillips"],
- ["Maria", "Canibano-Pico"],
- ["Iulia M", "Nita"],
- ["Nadira", "Ali"],
- ["Konstantin", "Bobkov"],
- ["Jonathan R", "Greene"],
- ["Kirupa", "Sathasivam"],
- ["Gillian P", "Bates"]
- ],
- "publisher": "Brain communications",
- "issn": "2632-1297",
- "date": "2024-11-15",
- "abstract": "Huntington's disease is an inherited neurodegenerative disorder caused by a CAG repeat expansion that encodes a polyglutamine tract in the huntingtin (HTT) protein. The mutant CAG repeat is unstable and expands in specific brain cells and peripheral tissues throughout life. Genes involved in the DNA mismatch repair pathways, known to act on expansion, have been identified as genetic modifiers; therefore, it is the rate of somatic CAG repeat expansion that drives the age of onset and rate of disease progression. In the context of an expanded CAG repeat, the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39713241"
-},
-{
- "id": "pmid:39676657",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39676657",
- "title": "Navigating triplet repeats sequencing: concepts, methodological challenges and perspective for Huntington's disease.",
- "type": "article-journal",
- "doi": "10.1093/nar/gkae1155",
- "authors": [
- ["Simone", "Maestri"],
- ["Davide", "Scalzo"],
- ["Gianluca", "Damaggio"],
- ["Martina", "Zobel"],
- ["Dario", "Besusso"],
- ["Elena", "Cattaneo"]
- ],
- "publisher": "Nucleic acids research",
- "issn": "1362-4962",
- "date": "2024-12-16",
- "abstract": "The accurate characterization of triplet repeats, especially the overrepresented CAG repeats, is increasingly relevant for several reasons. First, germline expansion of CAG repeats above a gene-specific threshold causes multiple neurodegenerative disorders; for instance, Huntington's disease (HD) is triggered by >36 CAG repeats in the huntingtin (HTT) gene. Second, extreme expansions up to 800 CAG repeats have been found in specific cell types affected by the disease. Third, synonymous single nucleotide variants within the CAG repeat stretch influence the age of disease onset. Thus, new sequencing-based protocols that profile both the length and the exact nucleotide sequence of triplet repeats are crucial. Various strategies to enrich the target gene over the background, along with sequencing platforms and bioinformatic pipelines, are under development. This review discusses the concepts, challenges, and methodological opportunities for analyzing triplet repeats, using HD as a case study. Starting with traditional approaches, we will explore how sequencing-based methods have evolved to meet increasing scientific demands. We will also highlight experimental and bioinformatic challenges, aiming to provide a guide for accurate triplet repeat characterization for diagnostic and therapeutic purposes.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39676657"
-},
-{
- "id": "pmid:39669608",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39669608",
- "title": "Ascertainment of uninterrupted CAG repeat length and disease-modifying variants in fragment-based genetic testing for Huntington Disease.",
- "type": "article-journal",
- "doi": "10.1016/j.gimo.2024.101882",
- "authors": [
- ["Hailey", "Findlay Black"],
- ["Chris", "Kay"],
- ["Jessica", "Dawson"],
- ["Stephanie", "Bortnick"],
- ["Kyla", "Javier"],
- ["Qingwen", "Xia"],
- ["Cheuk Hin", "Chau"],
- ["Tess", "Leavitt"],
- ["Larissa", "Arning"],
- ["Huu Phuc", "Nguyen"],
- ["Michael R", "Hayden"]
- ],
- "publisher": "Genetics in medicine open",
- "issn": "2949-7744",
- "date": "2024-08-02",
- "abstract": "In Huntington disease (HD), synonymous variants causing loss or duplication of the interrupting CAA codon in the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39669608"
-},
-{
- "id": "pmid:39666103",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39666103",
- "title": "Frequency and neuropathology of HTT repeat expansions in FTD/ALS: co-existence rather than causation.",
- "type": "article-journal",
- "doi": "10.1007/s00415-024-12822-2",
- "authors": [
- ["Milan", "Zimmermann"],
- ["David", "Mengel"],
- ["Katrin", "Raupach"],
- ["Tobias", "Haack"],
- ["Manuela", "Neumann"],
- ["Matthis", "Synofzik"]
- ],
- "publisher": "Journal of neurology",
- "issn": "1432-1459",
- "date": "2024-12-12",
- "abstract": "While\u2009\u2265\u200940 CAG repeat expansions in HTT present a well-established cause of Huntington's disease (HD), an enrichment of HTT repeat expansions was recently reported also in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), including FTD/ALS patients with additional HD neuropathology. This raises the question whether the phenotypic spectrum of HTT expansions can be extended to ALS and FTD, and whether HTT should be considered as a new causative gene of FTD/ALS. If HTT repeat expansions were indeed systematically related to FTD/ALS, one would expect an increased frequency\u00a0of HTT carriers in FTD/ALS, who can clinically/neuropathologically not be explained better than by the presence of the HTT repeat expansions.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39666103"
-},
-{
- "id": "pmid:39662690",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39662690",
- "title": "Distinct roles of ascorbic acid in extracellular vesicles and free form: Implications for metabolism and oxidative stress in presymptomatic Huntington's disease.",
- "type": "article-journal",
- "doi": "10.1016/j.freeradbiomed.2024.12.001",
- "authors": [
- ["Felipe A", "Beltr\u00e1n"],
- ["Leandro", "Torres-D\u00edaz L"],
- ["Paulina", "Troncoso-Escudero"],
- ["Juan", "Villalobos-Gonz\u00e1lez"],
- ["Gonzalo", "Mayorga-Weber"],
- ["Marcelo", "Lara"],
- ["Adriana", "Covarrubias-Pinto"],
- ["Sharin", "Valdivia"],
- ["Isidora", "Vicencio"],
- ["Eduardo", "Papic"],
- ["Carolina", "Paredes-Mart\u00ednez"],
- ["Mara E", "Silva-Janu\u00e0rio"],
- ["Alejandro", "Rojas"],
- ["Luis L P", "daSilva"],
- ["Felipe", "Court"],
- ["Abraham", "Rosas-Arellano"],
- ["Luis Federico", "B\u00e1tiz"],
- ["Patricio", "Rojas"],
- ["Francisco J", "Rivera"],
- ["Maite A", "Castro"]
- ],
- "publisher": "Free radical biology & medicine",
- "issn": "1873-4596",
- "date": "2024-12-09",
- "abstract": "Huntington's disease (HD) is a neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the first exon of the huntingtin gene. The huntingtin protein (Htt) is ubiquitously expressed and localized in several organelles, including endosomes, where it plays an essential role in intracellular trafficking. Presymptomatic HD is associated with a failure in energy metabolism and oxidative stress. Ascorbic acid is a potent antioxidant that plays a key role in modulating neuronal metabolism and is highly concentrated in the brain. During synaptic activity, neurons take up ascorbic acid released by glial cells; however, this process is disrupted in HD. In this study, we aim to elucidate the molecular and cellular mechanisms underlying this dysfunction. Using an electrophysiological approach in presymptomatic YAC128 HD slices, we observed decreased ascorbic acid flux from astrocytes to neurons, which altered neuronal metabolic substrate preferences. Ascorbic acid efflux and recycling were also decreased in cultured astrocytes from YAC128 HD mice. We confirmed our findings using GFAP-HD160Q, an HD mice model expressing mutant N-terminal Htt mainly in astrocytes. For the first time, we demonstrated that ascorbic acid is released from astrocytes via extracellular vesicles (EVs). Decreased number of particles and exosomal markers were observed in EV fractions from cultured YAC128 HD astrocytes and Htt-KD cells. We observed reduced number of multivesicular bodies (MVBs) in YAC128 HD striatum via electron microscopy, suggesting mutant Htt alters MVB biogenesis. EVs containing ascorbic acid effectively reduced reactive oxygen species, whereas \"free\" ascorbic acid played a role in modulating neuronal metabolic substrate preferences. These findings suggest that the early redox imbalance observed in HD arises from a reduced release of ascorbic acid-containing EVs by astrocytes. Meanwhile, a decrease in \"free\" ascorbic acid likely contributes to presymptomatic metabolic impairment.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39662690"
-},
-{
- "id": "pmid:",
- "manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
-{
- "id": "pmid:39680235",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39680235",
- "title": "Case Series of Cerebellar Ataxia with Tremor Due to Heterozygous STUB1 Variants (SCA48) without TBP Expansions: Further Evidence for SCA48 as a Monogenic Disease.",
- "type": "article-journal",
- "doi": "10.1007/s12311-024-01762-2",
- "authors": [
- ["Yan", "Zochowski"],
- ["Kishore R", "Kumar"],
- ["Matthew", "Katz"],
- ["Paul", "Darveniza"],
- ["Michel", "Tchan"],
- ["Renee", "Smyth"],
- ["Susan", "Tomlinson"],
- ["Kathy H C", "Wu"],
- ["Stephen", "Tisch"]
- ],
- "publisher": "Cerebellum (London, England)",
- "issn": "1473-4230",
- "date": "2024-12-16",
- "abstract": "Clinically-relevant variants in the STUB1 gene have been associated with an autosomal dominant spinocerebellar ataxia 48 (SCA48), a recently described inherited neurodegenerative condition that is characterised by cognitive and psychiatric changes. To describe the clinical phenotype and genetic findings of three new Australian probands with STUB1 to expand the current understanding of the spectrum of clinical presentation and natural history of SCA48. Clinical and genetic review of patients diagnosed with SCA48 ataxia drawn from our centres. The third case was derived from a collaborating centre (Royal Brisbane Hospital). We identified three unrelated SCA48 patients with heterozygous pathogenic STUB1 variants. All presented with slowly progressive cerebellar ataxia with tremor and additional findings of dysarthria, parkinsonism, hypertonia, cognitive and psychiatric symptoms. Age of onset varied from 34 to 65 years of age. Brain MRI showed significant diffuse cerebellar atrophy, affecting the vermis and cerebellar hemispheres. We identified two novel pathogenic variants of STUB1 gene, and one previously reported pathogenic variant. Genetic testing for intermediate expansions of TBP (SCA17) identified TBP repeats within the normal range of 25-40 in all 3 probands. Our case series expands the clinical spectrum of SCA48. We highlight the importance of tremor as part of the clinical phenotype including upper limb rest tremor and Parkinsonian signs. Our cases lacked pathological TBP expansions and provide additional evidence that STUB1 (SCA48) can manifest as a monogenic disease.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39680235"
-},
-{
- "id": "pmid:39669694",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39669694",
- "title": "Prevalence of Transcription Factor 4 Gene Triplet Repeat Expansion Associated with Fuchs' Endothelial Corneal Dystrophy in the United States and Global Populations.",
- "type": "article-journal",
- "doi": "10.1016/j.xops.2024.100611",
- "authors": [
- ["Xunzhi", "Zhang"],
- ["Ashwani", "Kumar"],
- ["Xin", "Gong"],
- ["Chao", "Xing"],
- ["V Vinod", "Mootha"]
- ],
- "publisher": "Ophthalmology science",
- "issn": "2666-9145",
- "date": "2024-08-30",
- "abstract": "An intronic cytosine-thymine-guanine (CTG) triplet repeat expansion in the transcription factor 4 gene (",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39669694"
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-{
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-{
- "id": "omim:601068",
- "manubot_success": false,
- "link": "https://omim.org/entry/601068",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/601068. Skipping"
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-{
- "id": "omim:309510",
- "manubot_success": false,
- "link": "https://omim.org/entry/309510",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/309510. Skipping"
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-{
- "id": "omim:308350",
- "manubot_success": false,
- "link": "https://omim.org/entry/308350",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/308350. Skipping"
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-{
- "id": "omim:300004",
- "manubot_success": false,
- "link": "https://omim.org/entry/300004",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/300004. Skipping"
-},
-{
- "id": "omim:300215",
- "manubot_success": false,
- "link": "https://omim.org/entry/300215",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/300215. Skipping"
-},
-{
- "id": "omim:183090",
- "manubot_success": false,
- "link": "https://omim.org/entry/183090",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/183090. Skipping"
-},
-{
- "id": "omim:164500",
- "manubot_success": false,
- "link": "https://omim.org/entry/164500",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/164500. Skipping"
-},
-{
- "id": "omim:608768",
- "manubot_success": false,
- "link": "https://omim.org/entry/608768",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/608768. Skipping"
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-{
- "id": "omim:117210",
- "manubot_success": false,
- "link": "https://omim.org/entry/117210",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/117210. Skipping"
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-{
- "id": "omim:105500",
- "manubot_success": false,
- "link": "https://omim.org/entry/105500",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/105500. Skipping"
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-{
- "id": "omim:147791",
- "manubot_success": false,
- "link": "https://omim.org/entry/147791",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/147791. Skipping"
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-{
- "id": "omim:615945",
- "manubot_success": false,
- "link": "https://omim.org/entry/615945",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/615945. Skipping"
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-{
- "id": "omim:136630",
- "manubot_success": false,
- "link": "https://omim.org/entry/136630",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/136630. Skipping"
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-{
- "id": "omim:229300",
- "manubot_success": false,
- "link": "https://omim.org/entry/229300",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/229300. Skipping"
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-{
- "id": "omim:618940",
- "manubot_success": false,
- "link": "https://omim.org/entry/618940",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/618940. Skipping"
-},
-{
- "id": "omim:618412",
- "manubot_success": false,
- "link": "https://omim.org/entry/618412",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/618412. Skipping"
-},
-{
- "id": "omim:186000",
- "manubot_success": false,
- "link": "https://omim.org/entry/186000",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/186000. Skipping"
-},
-{
- "id": "omim:164310",
- "manubot_success": false,
- "link": "https://omim.org/entry/164310",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/164310. Skipping"
-},
-{
- "id": "omim:613608",
- "manubot_success": false,
- "link": "https://omim.org/entry/613608",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/613608. Skipping"
-},
-{
- "id": "omim:105400",
- "manubot_success": false,
- "link": "https://omim.org/entry/105400",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/105400. Skipping"
-},
-{
- "id": "omim:614153",
- "manubot_success": false,
- "link": "https://omim.org/entry/614153",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/614153. Skipping"
-},
-{
- "id": "omim:603472",
- "manubot_success": false,
- "link": "https://omim.org/entry/603472",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/603472. Skipping"
-},
-{
- "id": "omim:618637",
- "manubot_success": false,
- "link": "https://omim.org/entry/618637",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/618637. Skipping"
-},
-{
- "id": "omim:258450",
- "manubot_success": false,
- "link": "https://omim.org/entry/258450",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/258450. Skipping"
-},
-{
- "id": "omim:157640",
- "manubot_success": false,
- "link": "https://omim.org/entry/157640",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/157640. Skipping"
-},
-{
- "id": "omim:604326",
- "manubot_success": false,
- "link": "https://omim.org/entry/604326",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/604326. Skipping"
-},
-{
- "id": "omim:616488",
- "manubot_success": false,
- "link": "https://omim.org/entry/616488",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/616488. Skipping"
-},
-{
- "id": "omim:300123",
- "manubot_success": false,
- "link": "https://omim.org/entry/300123",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/300123. Skipping"
-},
-{
- "id": "omim:607136",
- "manubot_success": false,
- "link": "https://omim.org/entry/607136",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/607136. Skipping"
-},
-{
- "id": "omim:187500",
- "manubot_success": false,
- "link": "https://omim.org/entry/187500",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/187500. Skipping"
-},
-{
- "id": "omim:613267",
- "manubot_success": false,
- "link": "https://omim.org/entry/613267",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/613267. Skipping"
-},
-{
- "id": "omim:619216",
- "manubot_success": false,
- "link": "https://omim.org/entry/619216",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/619216. Skipping"
-},
-{
- "id": "omim:600223",
- "manubot_success": false,
- "link": "https://omim.org/entry/600223",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/600223. Skipping"
-},
-{
- "id": "omim:314390",
- "manubot_success": false,
- "link": "https://omim.org/entry/314390",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/314390. Skipping"
-},
-{
- "id": "omim:616181",
- "manubot_success": false,
- "link": "https://omim.org/entry/616181",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/616181. Skipping"
-},
-{
- "id": "omim:609893",
- "manubot_success": false,
- "link": "https://omim.org/entry/609893",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/609893. Skipping"
-},
-{
- "id": "malacard:KNS007",
- "manubot_success": false,
- "link": "https://www.malacards.org/card/KNS007",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.malacards.org/card/KNS007']' timed out after 3 seconds"
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-{
- "id": "doi:10.17161/2tmg0f25",
- "manubot_success": false,
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'doi:10.17161/2tmg0f25']' timed out after 3 seconds"
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-{
- "id": "genereviews:NBK1196",
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- "link": "https://www.ncbi.nlm.nih.gov/books/NBK1196",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1196']' timed out after 3 seconds"
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-{
- "id": "genereviews:NBK1384",
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- "link": "https://www.ncbi.nlm.nih.gov/books/NBK1384",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1384']' timed out after 3 seconds"
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-{
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- "manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/25101480",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
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-{
- "id": "pmid:29939637",
- "manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/29939637",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
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-{
- "id": "pmid:",
- "manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
-{
- "id": "omim:309548",
- "manubot_success": false,
- "link": "https://omim.org/entry/309548",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/309548. Skipping"
-},
-{
- "id": "omim:309510",
- "manubot_success": false,
- "link": "https://omim.org/entry/309510",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/309510. Skipping"
-},
-{
- "id": "omim:308350",
- "manubot_success": false,
- "link": "https://omim.org/entry/308350",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/308350. Skipping"
-},
-{
- "id": "omim:300004",
- "manubot_success": false,
- "link": "https://omim.org/entry/300004",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/300004. Skipping"
-},
-{
- "id": "omim:300215",
- "manubot_success": false,
- "link": "https://omim.org/entry/300215",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/300215. Skipping"
-},
-{
- "id": "omim:183090",
- "manubot_success": false,
- "link": "https://omim.org/entry/183090",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/183090. Skipping"
-},
-{
- "id": "omim:164500",
- "manubot_success": false,
- "link": "https://omim.org/entry/164500",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/164500. Skipping"
-},
-{
- "id": "omim:608768",
- "manubot_success": false,
- "link": "https://omim.org/entry/608768",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/608768. Skipping"
-},
-{
- "id": "omim:117210",
- "manubot_success": false,
- "link": "https://omim.org/entry/117210",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/117210. Skipping"
-},
-{
- "id": "omim:105500",
- "manubot_success": false,
- "link": "https://omim.org/entry/105500",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/105500. Skipping"
-},
-{
- "id": "omim:147791",
- "manubot_success": false,
- "link": "https://omim.org/entry/147791",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/147791. Skipping"
-},
-{
- "id": "omim:615945",
- "manubot_success": false,
- "link": "https://omim.org/entry/615945",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/615945. Skipping"
-},
-{
- "id": "omim:136630",
- "manubot_success": false,
- "link": "https://omim.org/entry/136630",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/136630. Skipping"
-},
-{
- "id": "omim:229300",
- "manubot_success": false,
- "link": "https://omim.org/entry/229300",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/229300. Skipping"
-},
-{
- "id": "omim:618940",
- "manubot_success": false,
- "link": "https://omim.org/entry/618940",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/618940. Skipping"
-},
-{
- "id": "omim:618412",
- "manubot_success": false,
- "link": "https://omim.org/entry/618412",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/618412. Skipping"
-},
-{
- "id": "omim:186000",
- "manubot_success": false,
- "link": "https://omim.org/entry/186000",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/186000. Skipping"
-},
-{
- "id": "omim:164310",
- "manubot_success": false,
- "link": "https://omim.org/entry/164310",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/164310. Skipping"
-},
-{
- "id": "omim:613608",
- "manubot_success": false,
- "link": "https://omim.org/entry/613608",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/613608. Skipping"
-},
-{
- "id": "omim:105400",
- "manubot_success": false,
- "link": "https://omim.org/entry/105400",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/105400. Skipping"
-},
-{
- "id": "omim:614153",
- "manubot_success": false,
- "link": "https://omim.org/entry/614153",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/614153. Skipping"
-},
-{
- "id": "omim:603472",
- "manubot_success": false,
- "link": "https://omim.org/entry/603472",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/603472. Skipping"
-},
-{
- "id": "omim:618637",
- "manubot_success": false,
- "link": "https://omim.org/entry/618637",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/618637. Skipping"
-},
-{
- "id": "omim:258450",
- "manubot_success": false,
- "link": "https://omim.org/entry/258450",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/258450. Skipping"
-},
-{
- "id": "omim:157640",
- "manubot_success": false,
- "link": "https://omim.org/entry/157640",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/157640. Skipping"
-},
-{
- "id": "omim:604326",
- "manubot_success": false,
- "link": "https://omim.org/entry/604326",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/604326. Skipping"
-},
-{
- "id": "omim:616488",
- "manubot_success": false,
- "link": "https://omim.org/entry/616488",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/616488. Skipping"
-},
-{
- "id": "omim:601068",
- "manubot_success": false,
- "link": "https://omim.org/entry/601068",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/601068. Skipping"
-},
-{
- "id": "omim:300123",
- "manubot_success": false,
- "link": "https://omim.org/entry/300123",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/300123. Skipping"
-},
-{
- "id": "omim:607136",
- "manubot_success": false,
- "link": "https://omim.org/entry/607136",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/607136. Skipping"
-},
-{
- "id": "omim:187500",
- "manubot_success": false,
- "link": "https://omim.org/entry/187500",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/187500. Skipping"
-},
-{
- "id": "omim:613267",
- "manubot_success": false,
- "link": "https://omim.org/entry/613267",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/613267. Skipping"
-},
-{
- "id": "omim:619216",
- "manubot_success": false,
- "link": "https://omim.org/entry/619216",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/619216. Skipping"
-},
-{
- "id": "omim:600223",
- "manubot_success": false,
- "link": "https://omim.org/entry/600223",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/600223. Skipping"
-},
-{
- "id": "omim:314390",
- "manubot_success": false,
- "link": "https://omim.org/entry/314390",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/314390. Skipping"
-},
-{
- "id": "omim:616181",
- "manubot_success": false,
- "link": "https://omim.org/entry/616181",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/616181. Skipping"
-},
-{
- "id": "omim:609893",
- "manubot_success": false,
- "link": "https://omim.org/entry/609893",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/609893. Skipping"
-},
-{
- "id": "malacard:KNS007",
- "manubot_success": false,
- "link": "https://www.malacards.org/card/KNS007",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.malacards.org/card/KNS007']' timed out after 3 seconds"
-},
-{
- "id": "doi:10.17161/2tmg0f25",
- "manubot_success": false,
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'doi:10.17161/2tmg0f25']' timed out after 3 seconds"
-},
-{
- "id": "genereviews:NBK1196",
- "manubot_success": false,
- "link": "https://www.ncbi.nlm.nih.gov/books/NBK1196",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1196']' timed out after 3 seconds"
-},
-{
- "id": "genereviews:NBK1384",
- "manubot_success": false,
- "link": "https://www.ncbi.nlm.nih.gov/books/NBK1384",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1384']' timed out after 3 seconds"
-},
-{
- "id": "pmid:25101480",
- "manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/25101480",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
-{
- "id": "pmid:29939637",
- "manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/29939637",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
-{
- "id": "pmid:39729861",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39729861",
- "title": "Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi007-A) from a patient with Kennedy disease.",
- "type": "article-journal",
- "doi": "10.1016/j.scr.2024.103638",
- "authors": [
- ["Bo", "Li"],
- ["Yitong", "Yang"],
- ["Yingxin", "Wang"],
- ["Didi", "Shan"],
- ["Jianing", "Li"],
- ["Hongxu", "Wang"],
- ["Xiaohan", "Sun"],
- ["Yao", "Tang"],
- ["Yichang", "Jiao"],
- ["Xinbo", "Ji"],
- ["Zexin", "Zhan"],
- ["Bo", "Kong"],
- ["Bo", "Gao"],
- ["Yu", "Wang"],
- ["Ping", "Sun"],
- ["Fuchen", "Liu"]
- ],
- "publisher": "Stem cell research",
- "issn": "1876-7753",
- "date": "2024-12-25",
- "abstract": "Abnormal trinucleotide CAG repeat expansions in exon 1 of the Androgen Receptor (AR) gene has been identified as the cause of Kennedy disease (KD). We generated and characterized a human induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMC) of a patient with genetically confirmed KD. The pluripotency of these iPSCs was verified by the expression of several pluripotency markers at both RNA and protein levels, as well as their capability to differentiate into all three germ layers.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39729861"
-},
-{
- "id": "pmid:39731318",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39731318",
- "title": "Apolipoprotein E epsilon4 allele is associated with better performance language and visual memory in spinocerebellar ataxia type 3.",
- "type": "article-journal",
- "doi": "10.1111/ene.70017",
- "authors": [
- ["Xuanyu", "Chen"],
- ["Kunxin", "Lin"],
- ["Zhixian", "Ye"],
- ["Liangliang", "Qiu"],
- ["Yusen", "Qiu"],
- ["Ruying", "Yuan"],
- ["Xintong", "Yu"],
- ["Chunyu", "Huang"],
- ["Bi", "Cheng"],
- ["Wei", "Lin"],
- ["Tianmin", "Lai"],
- ["Wanjin", "Chen"],
- ["Ning", "Wang"],
- ["Shirui", "Gan"],
- ["Qiuni", "Su"],
- ["Ying", "Fu"]
- ],
- "publisher": "European journal of neurology",
- "issn": "1468-1331",
- "date": "2025-01-01",
- "abstract": "The regulatory role of the apolipoprotein E (APOE) \u03b54 allele in the clinical manifestations of spinocerebellar ataxia type 3 (SCA3) remains unclear. This study aimed to evaluate the impact of the APOE \u03b54 allele on cognitive and motor functions in SCA3 patients.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39731318"
-},
-{
- "id": "pmid:39730482",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39730482",
- "title": "Genetic epidemiology of amyotrophic lateral sclerosis in Cyprus: a population-based study.",
- "type": "article-journal",
- "doi": "10.1038/s41598-024-80851-y",
- "authors": [
- ["Ellie", "Mitsi"],
- ["Christina", "Votsi"],
- ["Pantelitsa", "Koutsou"],
- ["Anthi", "Georghiou"],
- ["Christiana C", "Christodoulou"],
- ["Kleopas", "Kleopa"],
- ["Eleni", "Zamba-Papanicolaou"],
- ["Kyproula", "Christodoulou"],
- ["Paschalis", "Nicolaou"]
- ],
- "publisher": "Scientific reports",
- "issn": "2045-2322",
- "date": "2024-12-28",
- "abstract": "Amyotrophic lateral sclerosis (ALS) is a devastating, uniformly lethal degenerative disease of motor neurons, presenting with relentlessly progressive muscle atrophy and weakness. More than fifty genes carrying causative or disease-modifying variants have been identified since the 1990s, when the first ALS-associated variant in the gene SOD1 was discovered. The most commonly mutated ALS genes in the European populations include the C9orf72, SOD1, TARDBP and FUS. Understanding the genetic causes of ALS within a population is becoming more significant, especially in light of the possible development of personalized medicine. Here, we provide clinical and genetic data on familial and sporadic ALS patients in a Greek-Cypriot population-based cohort. Eighty-nine ALS patients, including 21 familial ALS (fALS) (23.6%) and 68 sporadic ALS (sALS) (76.4%), provided the cohort for variant screening of the most common ALS-associated genes. Moreover, next-generation sequencing (NGS) was also performed to identify rare ALS variants, and in silico prediction tools were applied to predict the downstream effect of the variants detected in our study. The pathogenic hexanucleotide G",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39730482"
-},
-{
- "id": "pmid:39722074",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39722074",
- "title": "A robust evaluation of TDP-43, poly GP, cellular pathology and behavior in an AAV-C9ORF72 (G",
- "type": "article-journal",
- "doi": "10.1186/s40478-024-01911-y",
- "authors": [
- ["Emily G", "Thompson"],
- ["Olivia", "Spead"],
- ["Suleyman C", "Akerman"],
- ["Carrie", "Curcio"],
- ["Benjamin L", "Zaepfel"],
- ["Erica R", "Kent"],
- ["Thomas", "Philips"],
- ["Balaji G", "Vijayakumar"],
- ["Anna", "Zacco"],
- ["Weibo", "Zhou"],
- ["Guhan", "Nagappan"],
- ["Jeffrey D", "Rothstein"]
- ],
- "publisher": "Acta neuropathologica communications",
- "issn": "2051-5960",
- "date": "2024-12-26",
- "abstract": "The G",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39722074"
-},
-{
- "id": "pmid:39723156",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39723156",
- "title": "Triplex H-DNA structure: the long and winding road from the discovery to its role in human disease.",
- "type": "article-journal",
- "doi": "10.1093/narmme/ugae024",
- "authors": [
- ["Julia A", "Hisey"],
- ["Chiara", "Masnovo"],
- ["Sergei M", "Mirkin"]
- ],
- "publisher": "NAR molecular medicine",
- "issn": "2976-856X",
- "date": "2024-12-05",
- "abstract": "H-DNA is an intramolecular DNA triplex formed by homopurine/homopyrimidine mirror repeats. Since its discovery, the field has advanced from characterizing the structure",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39723156"
-},
-{
- "id": "pmid:39725461",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39725461",
- "title": "Trinucleotide Repeat Expansion and RNA Dysregulation in Fragile X Syndrome: Emerging Therapeutic Approaches.",
- "type": "article-journal",
- "doi": "10.1261/rna.080270.124",
- "authors": [
- ["Suna", "Jung"],
- ["Joel D", "Richter"]
- ],
- "publisher": "RNA (New York, N.Y.)",
- "issn": "1469-9001",
- "date": "2024-12-26",
- "abstract": "Fragile X Syndrome (FXS) is characterized by intellectual impairment caused by CGG repeat expansion in the FMR1 gene. When repeats exceed 200, they induce DNA methylation of the promoter and the repeat region, resulting in transcriptional silencing of the FMR1 gene and the subsequent loss of FMRP protein. In the past decade or so, research has focused on the role of FMRP as an RNA-binding protein involved in translation inhibition in the brain in FXS model mice, particularly by slowing or stalling ribosome translocation on mRNA. More recent advances have shown that FMRP has a profound role in RNA splicing, at least in some cases by modulating the translation of splicing factor mRNAs. In a surprise, the human FMR1 gene is transcribed in most cases even with a full CGG expansion. However, much of the FMR1 that is produced is mis-spliced, which can be corrected by splice-switching antisense oligonucleotide (ASO) administration. Other recent findings suggest that inhibition of multiple kinases can demethylate the FMR1 gene and induce the formation of an R-loop in the CGG repeat region, leading to contraction of the repeat and FMRP restoration. These insights are paving the way for possible future therapeutic approaches for this disorder. We highlight the importance of FMRP restoration by ASO-mediated splice switching or CGG repeat modulation as key advances that may lead to successful treatments for FXS.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39725461"
-},
-{
- "id": "pmid:",
- "manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
-{
- "id": "pmid:39721397",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39721397",
- "title": "Spectrum disorder of RFC1 expansions/CANVAS: Clinical and electrophysiological characterization of a group of 31 patients.",
- "type": "article-journal",
- "doi": "10.1016/j.clinph.2024.12.007",
- "authors": [
- ["Elena", "Lainez"],
- ["Daniel", "S\u00e1nchez-Tejerina"],
- ["Paula", "Fern\u00e1ndez Alvarez"],
- ["Margarida", "Gratac\u00f2s-Vi\u00f1ola"],
- ["Jos\u00e9 Luis", "Seoane"],
- ["Daniela Isabel", "Santa-Cruz"],
- ["Lena", "Verdaguer"],
- ["Ra\u00fal", "Juntas"],
- ["Arnau", "Llaurad\u00f3"],
- ["Javier", "Sotoca"],
- ["Maria", "Salvado"],
- ["Elena", "Garc\u00eda Arumi"],
- ["N\u00faria", "Raguer"]
- ],
- "publisher": "Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology",
- "issn": "1872-8952",
- "date": "2024-12-19",
- "abstract": "Biallelic expansion of the pentanucleotide AAGGG in the RFC1- gene is associated with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). This study aimed to comprehensively characterise this condition by conducting an in-depth neurophysiological examination of afflicted patients.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39721397"
-},
-{
- "id": "omim:309548",
- "manubot_success": false,
- "link": "https://omim.org/entry/309548",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/309548. Skipping"
-},
-{
- "id": "omim:309510",
- "manubot_success": false,
- "link": "https://omim.org/entry/309510",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/309510. Skipping"
-},
-{
- "id": "omim:308350",
- "manubot_success": false,
- "link": "https://omim.org/entry/308350",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/308350. Skipping"
-},
-{
- "id": "omim:300004",
- "manubot_success": false,
- "link": "https://omim.org/entry/300004",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/300004. Skipping"
-},
-{
- "id": "omim:300215",
- "manubot_success": false,
- "link": "https://omim.org/entry/300215",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/300215. Skipping"
-},
-{
- "id": "omim:183090",
- "manubot_success": false,
- "link": "https://omim.org/entry/183090",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/183090. Skipping"
-},
-{
- "id": "omim:164500",
- "manubot_success": false,
- "link": "https://omim.org/entry/164500",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/164500. Skipping"
-},
-{
- "id": "omim:608768",
- "manubot_success": false,
- "link": "https://omim.org/entry/608768",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/608768. Skipping"
-},
-{
- "id": "omim:117210",
- "manubot_success": false,
- "link": "https://omim.org/entry/117210",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/117210. Skipping"
-},
-{
- "id": "omim:105500",
- "manubot_success": false,
- "link": "https://omim.org/entry/105500",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/105500. Skipping"
-},
-{
- "id": "omim:147791",
- "manubot_success": false,
- "link": "https://omim.org/entry/147791",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/147791. Skipping"
-},
-{
- "id": "omim:615945",
- "manubot_success": false,
- "link": "https://omim.org/entry/615945",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/615945. Skipping"
-},
-{
- "id": "omim:136630",
- "manubot_success": false,
- "link": "https://omim.org/entry/136630",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/136630. Skipping"
-},
-{
- "id": "omim:229300",
- "manubot_success": false,
- "link": "https://omim.org/entry/229300",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/229300. Skipping"
-},
-{
- "id": "omim:618940",
- "manubot_success": false,
- "link": "https://omim.org/entry/618940",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/618940. Skipping"
-},
-{
- "id": "omim:618412",
- "manubot_success": false,
- "link": "https://omim.org/entry/618412",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/618412. Skipping"
-},
-{
- "id": "omim:186000",
- "manubot_success": false,
- "link": "https://omim.org/entry/186000",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/186000. Skipping"
-},
-{
- "id": "omim:164310",
- "manubot_success": false,
- "link": "https://omim.org/entry/164310",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/164310. Skipping"
-},
-{
- "id": "omim:613608",
- "manubot_success": false,
- "link": "https://omim.org/entry/613608",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/613608. Skipping"
-},
-{
- "id": "omim:105400",
- "manubot_success": false,
- "link": "https://omim.org/entry/105400",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/105400. Skipping"
-},
-{
- "id": "omim:614153",
- "manubot_success": false,
- "link": "https://omim.org/entry/614153",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/614153. Skipping"
-},
-{
- "id": "omim:603472",
- "manubot_success": false,
- "link": "https://omim.org/entry/603472",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/603472. Skipping"
-},
-{
- "id": "omim:618637",
- "manubot_success": false,
- "link": "https://omim.org/entry/618637",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/618637. Skipping"
-},
-{
- "id": "omim:258450",
- "manubot_success": false,
- "link": "https://omim.org/entry/258450",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/258450. Skipping"
-},
-{
- "id": "omim:157640",
- "manubot_success": false,
- "link": "https://omim.org/entry/157640",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/157640. Skipping"
-},
-{
- "id": "omim:604326",
- "manubot_success": false,
- "link": "https://omim.org/entry/604326",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/604326. Skipping"
-},
-{
- "id": "omim:616488",
- "manubot_success": false,
- "link": "https://omim.org/entry/616488",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/616488. Skipping"
-},
-{
- "id": "omim:601068",
- "manubot_success": false,
- "link": "https://omim.org/entry/601068",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/601068. Skipping"
-},
-{
- "id": "omim:300123",
- "manubot_success": false,
- "link": "https://omim.org/entry/300123",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/300123. Skipping"
-},
-{
- "id": "omim:607136",
- "manubot_success": false,
- "link": "https://omim.org/entry/607136",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/607136. Skipping"
-},
-{
- "id": "omim:187500",
- "manubot_success": false,
- "link": "https://omim.org/entry/187500",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/187500. Skipping"
-},
-{
- "id": "omim:613267",
- "manubot_success": false,
- "link": "https://omim.org/entry/613267",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/613267. Skipping"
-},
-{
- "id": "omim:619216",
- "manubot_success": false,
- "link": "https://omim.org/entry/619216",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/619216. Skipping"
-},
-{
- "id": "omim:600223",
- "manubot_success": false,
- "link": "https://omim.org/entry/600223",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/600223. Skipping"
-},
-{
- "id": "omim:314390",
- "manubot_success": false,
- "link": "https://omim.org/entry/314390",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/314390. Skipping"
-},
-{
- "id": "omim:616181",
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
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-{
- "id": "genereviews:NBK1384",
- "manubot_success": false,
- "link": "https://www.ncbi.nlm.nih.gov/books/NBK1384",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1384']' timed out after 3 seconds"
-},
-{
- "id": "pmid:25101480",
- "manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/25101480",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
-{
- "id": "pmid:29939637",
- "manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/29939637",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
-{
- "id": "pmid:",
- "manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'isbn:978-3-031-66932-3']' timed out after 3 seconds"
}]
\ No newline at end of file
diff --git a/data/literature/AR01.txt b/data/literature/AR01.txt
index 40efde2b..b59bbea0 100644
--- a/data/literature/AR01.txt
+++ b/data/literature/AR01.txt
@@ -10083,7 +10083,7 @@ PMID- 30247609
OWN - NLM
STAT- MEDLINE
DCOM- 20191212
-LR - 20241218
+LR - 20241227
IS - 1945-7197 (Electronic)
IS - 0021-972X (Linking)
VI - 104
@@ -39173,7 +39173,7 @@ PMID- 10732754
OWN - NLM
STAT- MEDLINE
DCOM- 20000405
-LR - 20241218
+LR - 20241227
IS - 0007-0920 (Print)
IS - 1532-1827 (Electronic)
IS - 0007-0920 (Linking)
diff --git a/data/literature/ARX01.txt b/data/literature/ARX01.txt
index 4ad84301..97903512 100644
--- a/data/literature/ARX01.txt
+++ b/data/literature/ARX01.txt
@@ -1396,7 +1396,7 @@ PMID- 23246292
OWN - NLM
STAT- MEDLINE
DCOM- 20130312
-LR - 20241218
+LR - 20241227
IS - 1537-6605 (Electronic)
IS - 0002-9297 (Print)
IS - 0002-9297 (Linking)
@@ -2252,7 +2252,7 @@ PMID- 18462864
OWN - NLM
STAT- MEDLINE
DCOM- 20080829
-LR - 20241218
+LR - 20241227
IS - 0303-8467 (Print)
IS - 0303-8467 (Linking)
VI - 110
@@ -2547,7 +2547,7 @@ PMID- 17480217
OWN - NLM
STAT- MEDLINE
DCOM- 20070517
-LR - 20241218
+LR - 20241227
IS - 1471-2350 (Electronic)
IS - 1471-2350 (Linking)
VI - 8
diff --git a/data/literature/C9orf7201.txt b/data/literature/C9orf7201.txt
index b0fb60a9..31b9d742 100644
--- a/data/literature/C9orf7201.txt
+++ b/data/literature/C9orf7201.txt
@@ -3,7 +3,7 @@ PMID- 39730482
OWN - NLM
STAT- MEDLINE
DCOM- 20241227
-LR - 20241227
+LR - 20241231
IS - 2045-2322 (Electronic)
IS - 2045-2322 (Linking)
VI - 14
diff --git a/data/literature/DMPK01.txt b/data/literature/DMPK01.txt
index d24e59c7..9cb966ba 100644
--- a/data/literature/DMPK01.txt
+++ b/data/literature/DMPK01.txt
@@ -2,12 +2,13 @@
PMID- 39710066
OWN - NLM
STAT- Publisher
-LR - 20241222
+LR - 20241230
IS - 1096-1194 (Electronic)
IS - 0890-8508 (Linking)
-DP - 2024 Dec 20
-TI - High-resolution repeat structure analysis in molecular diagnostics of myotonic
- dystrophy type 1 using short-read whole genome sequencing.
+VI - 79
+DP - 2024 Dec 29
+TI - Advancing molecular diagnostics of myotonic dystrophy type 1 using short-read
+ whole genome sequencing.
PG - 102005
LID - S0890-8508(24)00057-4 [pii]
LID - 10.1016/j.mcp.2024.102005 [doi]
@@ -29,7 +30,7 @@ AB - Myotonic dystrophy type 1 (DM1) is a serious multisystem disorder caused b
expansion-range/premutation-range alleles. Although neither the tested
conventional methods, nor WGS allowed expanded-allele sizing, conventional
methods provided higher sizing limits for normal-range alleles. Genotyping
- concordance rate was found to be 95-99%. WGS was found to be superior in
+ concordance rate was found to be 95-99 %. WGS was found to be superior in
elucidating the sequence structure of the motifs, even if they fall outside the
sizing limit (from partial reads). In addition, WGS enables the identification of
genetic modifiers in other genes and the detection of alternative diagnoses in
@@ -62,8 +63,8 @@ FAU - Zatkova, Andrea
AU - Zatkova A
AD - Institute of Clinical and Translational Research, Biomedical Research Center of
the Slovak Academy of Sciences, Bratislava, Slovakia.
-FAU - Tarova, Eva Tothova
-AU - Tarova ET
+FAU - Tothova Tarova, Eva
+AU - Tothova Tarova E
AD - Institute of Clinical and Translational Research, Biomedical Research Center of
the Slovak Academy of Sciences, Bratislava, Slovakia; Department of Biology,
Faculty of Education, J. Selye University, Komarno, Slovakia.
@@ -90,19 +91,19 @@ AD - Institute of Clinical and Translational Research, Biomedical Research Cent
Slovakia. Electronic address: jradvanszky@gmail.com.
LA - eng
PT - Journal Article
-DEP - 20241220
+DEP - 20241229
PL - England
TA - Mol Cell Probes
JT - Molecular and cellular probes
JID - 8709751
SB - IM
OTO - NOTNLM
-OT - massively parallel sequencing
-OT - myotonic dystrophy type 1
-OT - repeat expansion disorders
-OT - tandem repeats
-OT - whole genome sequencing
-COIS- Declaration of Competing Interest ... The authors declare the following financial
+OT - Massively parallel sequencing
+OT - Myotonic dystrophy type 1
+OT - Repeat expansion disorders
+OT - Tandem repeats
+OT - Whole genome sequencing
+COIS- Declaration of competing interest The authors declare the following financial
interests/personal relationships which may be considered as potential competing
interests:Tomas Szemes reports a relationship with Genovisio Ltd. that includes:
equity or stocks. If there are other authors, they declare that they have no
@@ -114,13 +115,13 @@ CRDT- 2024/12/22 19:14
PHST- 2024/12/05 00:00 [received]
PHST- 2024/12/20 00:00 [revised]
PHST- 2024/12/20 00:00 [accepted]
-PHST- 2024/12/23 00:19 [medline]
PHST- 2024/12/23 00:19 [pubmed]
+PHST- 2024/12/23 00:19 [medline]
PHST- 2024/12/22 19:14 [entrez]
AID - S0890-8508(24)00057-4 [pii]
AID - 10.1016/j.mcp.2024.102005 [doi]
PST - aheadofprint
-SO - Mol Cell Probes. 2024 Dec 20:102005. doi: 10.1016/j.mcp.2024.102005.
+SO - Mol Cell Probes. 2024 Dec 29;79:102005. doi: 10.1016/j.mcp.2024.102005.
PMID- 39679849
OWN - NLM
@@ -7928,7 +7929,7 @@ PMID- 33235377
OWN - NLM
STAT- MEDLINE
DCOM- 20220114
-LR - 20241218
+LR - 20241227
IS - 1476-5438 (Electronic)
IS - 1018-4813 (Print)
IS - 1018-4813 (Linking)
diff --git a/data/literature/FMR101.txt b/data/literature/FMR101.txt
index ece03f84..9d667296 100644
--- a/data/literature/FMR101.txt
+++ b/data/literature/FMR101.txt
@@ -51683,7 +51683,7 @@ PMID- 14560307
OWN - NLM
STAT- MEDLINE
DCOM- 20040506
-LR - 20241218
+LR - 20241227
IS - 1018-4813 (Print)
IS - 1018-4813 (Linking)
VI - 12
@@ -53415,7 +53415,7 @@ PMID- 11410685
OWN - NLM
STAT- MEDLINE
DCOM- 20011018
-LR - 20241218
+LR - 20241227
IS - 1011-8934 (Print)
IS - 1598-6357 (Electronic)
IS - 1011-8934 (Linking)
diff --git a/data/literature/HTT01.txt b/data/literature/HTT01.txt
index df5e1332..c7f7a0b5 100644
--- a/data/literature/HTT01.txt
+++ b/data/literature/HTT01.txt
@@ -38408,7 +38408,7 @@ PMID- 32102602
OWN - NLM
STAT- MEDLINE
DCOM- 20210517
-LR - 20241218
+LR - 20241227
IS - 1545-7222 (Electronic)
IS - 0895-0172 (Linking)
VI - 32
diff --git a/data/literature/LRP1201.txt b/data/literature/LRP1201.txt
index 1c31cec1..4f27b5cd 100644
--- a/data/literature/LRP1201.txt
+++ b/data/literature/LRP1201.txt
@@ -151,7 +151,7 @@ PMID- 38726482
OWN - NLM
STAT- MEDLINE
DCOM- 20240724
-LR - 20240724
+LR - 20241231
IS - 2167-9223 (Electronic)
IS - 2167-8421 (Linking)
VI - 25
@@ -235,19 +235,20 @@ PL - England
TA - Amyotroph Lateral Scler Frontotemporal Degener
JT - Amyotrophic lateral sclerosis & frontotemporal degeneration
JID - 101587185
-RN - 0 (LDL-Receptor Related Proteins)
+RN - 0 (LRP12 protein, human)
+RN - 0 (Low Density Lipoprotein Receptor-Related Protein-1)
SB - IM
+MH - Adult
+MH - Aged
+MH - Female
MH - Humans
-MH - *Amyotrophic Lateral Sclerosis/genetics
MH - Male
-MH - Female
-MH - *White People/genetics
MH - Middle Aged
-MH - Aged
-MH - Adult
-MH - LDL-Receptor Related Proteins/genetics
+MH - *Amyotrophic Lateral Sclerosis/genetics
MH - Cohort Studies
-MH - Trinucleotide Repeat Expansion/genetics
+MH - Trinucleotide Repeat Expansion
+MH - *White People/genetics
+MH - *Low Density Lipoprotein Receptor-Related Protein-1/genetics
OTO - NOTNLM
OT - Amyotrophic lateral sclerosis
OT - LRP12
diff --git a/data/literature/RAI101.txt b/data/literature/RAI101.txt
index 733b528f..29a6efa2 100644
--- a/data/literature/RAI101.txt
+++ b/data/literature/RAI101.txt
@@ -537,7 +537,7 @@ PMID- 33186760
OWN - NLM
STAT- MEDLINE
DCOM- 20210608
-LR - 20241218
+LR - 20241227
IS - 1878-0849 (Electronic)
IS - 1769-7212 (Linking)
VI - 64
@@ -1232,7 +1232,7 @@ PMID- 23897707
OWN - NLM
STAT- MEDLINE
DCOM- 20140326
-LR - 20241218
+LR - 20241227
IS - 1552-4833 (Electronic)
IS - 1552-4825 (Linking)
VI - 161A
diff --git a/data/literature/RFC101.txt b/data/literature/RFC101.txt
index 67197c87..32c085d0 100644
--- a/data/literature/RFC101.txt
+++ b/data/literature/RFC101.txt
@@ -2850,7 +2850,7 @@ PMID- 38324175
OWN - NLM
STAT- MEDLINE
DCOM- 20240724
-LR - 20240727
+LR - 20241231
IS - 1473-4230 (Electronic)
IS - 1473-4222 (Print)
IS - 1473-4222 (Linking)
diff --git a/data/literature/new_loci01.txt b/data/literature/new_loci01.txt
index 621e4a78..bc7d689d 100644
--- a/data/literature/new_loci01.txt
+++ b/data/literature/new_loci01.txt
@@ -1,9 +1,157 @@
+PMID- 39741260
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20250101
+LR - 20241231
+IS - 1471-2164 (Electronic)
+IS - 1471-2164 (Linking)
+VI - 25
+IP - 1
+DP - 2024 Dec 31
+TI - Nanopore sequencing as a novel method of characterising anorexia nervosa risk
+ loci.
+PG - 1262
+LID - 10.1186/s12864-024-11172-7 [doi]
+AB - BACKGROUND: Anorexia nervosa (AN) is a polygenic, severe metabopsychiatric
+ disorder with poorly understood aetiology. Eight significant loci have been
+ identified by genome-wide association studies (GWAS) and single nucleotide
+ polymorphism (SNP)-based heritability was estimated to be ~ 11-17, yet causal
+ variants remain elusive. It is therefore important to define the full spectrum of
+ genetic variants in the wider regions surrounding these significantly associated
+ loci. The hypothesis we evaluate here is that unrecognised or relatively
+ unexplored variants in these regions exist and are promising targets for future
+ functional analyses. To test this hypothesis, we implemented a novel approach
+ with targeted nanopore sequencing (Oxford Nanopore Technologies) for 200 kb
+ regions centred on each of the eight AN-associated loci in 10 AN case samples.
+ Our bioinformatics pipeline entailed base-calling and alignment with Dorado and
+ minimap2 software, followed by variant calling with four separate tools,
+ Sniffles2, Clair3, Straglr, and NanoVar. We then leveraged publicly available
+ databases to characterise these loci in putative functional context and
+ prioritise a subset of potentially relevant variants. RESULTS: Targeted nanopore
+ sequencing effectively enriched the target regions (average coverage 14.64x). To
+ test our hypothesis, we curated a list of 20 prioritised variants in non-coding
+ regions, poorly represented in the current human reference genome but that may
+ have functional consequences in AN pathology. Notably, we identified a
+ polymorphic SINE-VNTR-Alu like sub-family D element (SVA-D), intergenic with
+ IP6K2 and PRKAR2A, and a poly-T short tandem repeat (STR) in the 3'UTR of FOXP1.
+ CONCLUSIONS: Our results highlight the potential of targeted nanopore sequencing
+ for characterising poorly resolved or complex variation, which may be initially
+ obscured in risk-associated regions detected by GWAS. Some of the variants
+ identified in this way, such as the polymorphic SVA-D and poly-T STR, could
+ contribute to mechanisms of phenotypic risk, through regulation of several
+ neighbouring genes implicated in AN biology, and affect post-transcriptional
+ processing of FOXP1, respectively. This exploratory investigation was not powered
+ to detect functional effects, however, the variants we observed using this method
+ are poorly represented in the current human reference genome and accompanying
+ databases, and further examination of these may provide new opportunities for
+ improved understanding of genetic risk mechanisms of AN.
+CI - (c) 2024. The Author(s).
+FAU - Berthold, Natasha
+AU - Berthold N
+AD - University of Western Australia, Crawley, WA, Australia.
+ natasha.berthold@research.uwa.edu.au.
+AD - Perron Research Institute, Nedlands, WA, Australia.
+ natasha.berthold@research.uwa.edu.au.
+AD - Pathology and Biomedical Science Department, University of Otago Christchurch,
+ Christchurch, New Zealand. natasha.berthold@research.uwa.edu.au.
+FAU - Gaudieri, Silvana
+AU - Gaudieri S
+AD - University of Western Australia, Crawley, WA, Australia.
+AD - Murdoch University, Murdoch, WA, Australia.
+AD - Vanderbilt University Medical Centre, Nashville, TN, USA.
+FAU - Hood, Sean
+AU - Hood S
+AD - University of Western Australia, Crawley, WA, Australia.
+FAU - Tschochner, Monika
+AU - Tschochner M
+AD - University of Notre Dame Australia, Fremantle, WA, Australia.
+FAU - Miller, Allison L
+AU - Miller AL
+AD - Pathology and Biomedical Science Department, University of Otago Christchurch,
+ Christchurch, New Zealand.
+FAU - Jordan, Jennifer
+AU - Jordan J
+AD - Department of Psychological Medicine, University of Otago Christchurch,
+ Christchurch, New Zealand.
+FAU - Thornton, Laura M
+AU - Thornton LM
+AD - Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel
+ Hill, USA.
+FAU - Bulik, Cynthia M
+AU - Bulik CM
+AD - Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel
+ Hill, USA.
+AD - Department of Medical Epidemiology and Biostatistics, Karolinska Institutet,
+ Stockholm, Sweden.
+AD - Department of Nutrition, University of North Carolina at Chapel Hill, Chapel
+ Hill, USA.
+FAU - Akkari, Patrick Anthony
+AU - Akkari PA
+AD - University of Western Australia, Crawley, WA, Australia.
+AD - Perron Research Institute, Nedlands, WA, Australia.
+AD - Murdoch University, Murdoch, WA, Australia.
+AD - Duke University, Durham, NC, USA.
+FAU - Kennedy, Martin A
+AU - Kennedy MA
+AD - Pathology and Biomedical Science Department, University of Otago Christchurch,
+ Christchurch, New Zealand.
+LA - eng
+PT - Journal Article
+DEP - 20241231
+PL - England
+TA - BMC Genomics
+JT - BMC genomics
+JID - 100965258
+SB - IM
+MH - Humans
+MH - *Anorexia Nervosa/genetics
+MH - *Nanopore Sequencing/methods
+MH - *Genetic Predisposition to Disease
+MH - *Polymorphism, Single Nucleotide
+MH - Genome-Wide Association Study
+MH - Genetic Loci
+MH - Female
+MH - Computational Biology/methods
+OTO - NOTNLM
+OT - Adaptive sampling
+OT - Anorexia nervosa risk loci
+OT - Eating disorders
+OT - Long-read sequencing
+OT - Nanopore sequencing
+OT - Psychiatric genetics
+OT - Structural variants
+OT - Targeted sequencing
+OT - Transposable elements
+COIS- Declarations. Ethics approval and consent to participate: All publicly available
+ data used had documented permission from local ethical committees, all
+ participants provided informed consent for studies done in settings and countries
+ where this was required. The pilot cohort was a subsample of previously
+ de-identified samples from New Zealand participants in the Anorexia Nervosa
+ Genetics Initiative (ANGI) with informed consent and approval from the Southern
+ Health and Disability Ethics Committee (New Zealand) reference 14/STH/115.The use
+ of human samples and data in this study adhered to the ethical principles of the
+ Helsinki Declaration, World Medical Association Declaration of Helsinki. Consent
+ for publication: Not applicable. Competing interests: CMB is an author and
+ royalty recipient from Pearson Education, Inc.
+EDAT- 2025/01/01 21:24
+MHDA- 2025/01/01 21:25
+CRDT- 2024/12/31 23:41
+PHST- 2025/01/01 21:25 [medline]
+PHST- 2025/01/01 21:24 [pubmed]
+PHST- 2024/08/21 00:00 [received]
+PHST- 2024/12/19 00:00 [accepted]
+PHST- 2024/12/31 23:41 [entrez]
+AID - 10.1186/s12864-024-11172-7 [pii]
+AID - 10.1186/s12864-024-11172-7 [doi]
+PST - epublish
+SO - BMC Genomics. 2024 Dec 31;25(1):1262. doi: 10.1186/s12864-024-11172-7.
+
PMID- 39730482
OWN - NLM
STAT- MEDLINE
DCOM- 20241227
-LR - 20241227
+LR - 20241231
IS - 2045-2322 (Electronic)
IS - 2045-2322 (Linking)
VI - 14
@@ -345,12 +493,13 @@ SO - Brain Commun. 2024 Nov 15;6(6):fcae410. doi: 10.1093/braincomms/fcae410.
PMID- 39710066
OWN - NLM
STAT- Publisher
-LR - 20241222
+LR - 20241230
IS - 1096-1194 (Electronic)
IS - 0890-8508 (Linking)
-DP - 2024 Dec 20
-TI - High-resolution repeat structure analysis in molecular diagnostics of myotonic
- dystrophy type 1 using short-read whole genome sequencing.
+VI - 79
+DP - 2024 Dec 29
+TI - Advancing molecular diagnostics of myotonic dystrophy type 1 using short-read
+ whole genome sequencing.
PG - 102005
LID - S0890-8508(24)00057-4 [pii]
LID - 10.1016/j.mcp.2024.102005 [doi]
@@ -372,7 +521,7 @@ AB - Myotonic dystrophy type 1 (DM1) is a serious multisystem disorder caused b
expansion-range/premutation-range alleles. Although neither the tested
conventional methods, nor WGS allowed expanded-allele sizing, conventional
methods provided higher sizing limits for normal-range alleles. Genotyping
- concordance rate was found to be 95-99%. WGS was found to be superior in
+ concordance rate was found to be 95-99 %. WGS was found to be superior in
elucidating the sequence structure of the motifs, even if they fall outside the
sizing limit (from partial reads). In addition, WGS enables the identification of
genetic modifiers in other genes and the detection of alternative diagnoses in
@@ -405,8 +554,8 @@ FAU - Zatkova, Andrea
AU - Zatkova A
AD - Institute of Clinical and Translational Research, Biomedical Research Center of
the Slovak Academy of Sciences, Bratislava, Slovakia.
-FAU - Tarova, Eva Tothova
-AU - Tarova ET
+FAU - Tothova Tarova, Eva
+AU - Tothova Tarova E
AD - Institute of Clinical and Translational Research, Biomedical Research Center of
the Slovak Academy of Sciences, Bratislava, Slovakia; Department of Biology,
Faculty of Education, J. Selye University, Komarno, Slovakia.
@@ -433,19 +582,19 @@ AD - Institute of Clinical and Translational Research, Biomedical Research Cent
Slovakia. Electronic address: jradvanszky@gmail.com.
LA - eng
PT - Journal Article
-DEP - 20241220
+DEP - 20241229
PL - England
TA - Mol Cell Probes
JT - Molecular and cellular probes
JID - 8709751
SB - IM
OTO - NOTNLM
-OT - massively parallel sequencing
-OT - myotonic dystrophy type 1
-OT - repeat expansion disorders
-OT - tandem repeats
-OT - whole genome sequencing
-COIS- Declaration of Competing Interest ... The authors declare the following financial
+OT - Massively parallel sequencing
+OT - Myotonic dystrophy type 1
+OT - Repeat expansion disorders
+OT - Tandem repeats
+OT - Whole genome sequencing
+COIS- Declaration of competing interest The authors declare the following financial
interests/personal relationships which may be considered as potential competing
interests:Tomas Szemes reports a relationship with Genovisio Ltd. that includes:
equity or stocks. If there are other authors, they declare that they have no
@@ -457,13 +606,13 @@ CRDT- 2024/12/22 19:14
PHST- 2024/12/05 00:00 [received]
PHST- 2024/12/20 00:00 [revised]
PHST- 2024/12/20 00:00 [accepted]
-PHST- 2024/12/23 00:19 [medline]
PHST- 2024/12/23 00:19 [pubmed]
+PHST- 2024/12/23 00:19 [medline]
PHST- 2024/12/22 19:14 [entrez]
AID - S0890-8508(24)00057-4 [pii]
AID - 10.1016/j.mcp.2024.102005 [doi]
PST - aheadofprint
-SO - Mol Cell Probes. 2024 Dec 20:102005. doi: 10.1016/j.mcp.2024.102005.
+SO - Mol Cell Probes. 2024 Dec 29;79:102005. doi: 10.1016/j.mcp.2024.102005.
PMID- 39693790
OWN - NLM
@@ -18730,7 +18879,7 @@ PMID- 38070873
OWN - NLM
STAT- MEDLINE
DCOM- 20240219
-LR - 20241218
+LR - 20241227
IS - 1995-820X (Electronic)
IS - 1674-0769 (Print)
IS - 1995-820X (Linking)
From 3977204430f7f2ec31a0866f54304fa03a9de97c Mon Sep 17 00:00:00 2001
From: "Laurel (they/he)"
Date: Thu, 9 Jan 2025 16:28:46 -0700
Subject: [PATCH 2/6] add with lit check
---
data/STRchive-loci.json | 18 +++++++++---------
1 file changed, 9 insertions(+), 9 deletions(-)
diff --git a/data/STRchive-loci.json b/data/STRchive-loci.json
index 8354917b..0fb4a329 100644
--- a/data/STRchive-loci.json
+++ b/data/STRchive-loci.json
@@ -681,7 +681,7 @@
"mechanism": "GoF",
"mechanism_detail": "Polyglutamine expansion leading to gain of function; aggregated and mislocalized proteins in neurons [@pmid:36169768; @genereviews:NBK1196].",
"source": [],
- "details": "Benign alleles range from 11-44 repeats [@pmid:37906407], with intermediate alleles (45-59) associated with incomplete penetrance and non-classic phenotypes [@genereviews:NBK1196]. The threshold between incomplete and full penetrance is unclear, but presumed to occur at ~60 repeats [@genereviews:NBK1196; @pmid:37906407]. The interruption CAA has been observed [@pmid:35245110]; AAG is present in hg38 reference sequence.",
+ "details": "Benign alleles range from 11-44 repeats [@pmid:37906407], with intermediate alleles (45-59) associated with incomplete penetrance and non-classic phenotypes [@genereviews:NBK1196]. The threshold between incomplete and full penetrance is unclear, but presumed to occur at ~60 repeats [@genereviews:NBK1196; @pmid:37906407]. The interruption CAA has been observed [@pmid:35245110]; AAG is present in hg38 reference sequence. The APOE ε4 allele appears to act as a disease modifier [@pmid:39731318]; GLS expansions may also function as disease modifiers [@pmid: 39699045].",
"omim": ["109150"],
"prevalence": "2.1/100000",
"prevalence_details": "1-5/100,000 [@pmid:29100084]. Most prevalent SCA subtype [@genereviews:NBK557816]. Found worldwide across ancestries/ethnicities [@genereviews:NBK1196].",
@@ -925,7 +925,7 @@
"intermediate_min": 24.0,
"intermediate_max": 60.0,
"pathogenic_min": 251.0,
- "pathogenic_max": 4000.0,
+ "pathogenic_max": 4088.0,
"ref_copies": 10.8,
"motif_len": 6,
"age_onset": "Typical: 50-64; Range: 20-91 [@genereviews:NBK268647].",
@@ -937,7 +937,7 @@
"mechanism": "Ambiguous",
"mechanism_detail": "The HRE forms DNA and RNA G-quadruplexes with distinct structures and promotes RNA/DNA hybrids (R-loops). The structural polymorphism causes a repeat length-dependent accumulation of transcripts aborted in the HRE region [@omim:105500]. Addiitonal mechanisms theorized include protein loss of function and RNA gain of function [@pmid:37847372].",
"source": [],
- "details": "FTD and ALS form a clinical spectrum [@pmid:37388914; @pmid:22406228]. The clinical ranges of the C9orf72 locus remain ambiguous [@stripy:C9ORF72]: most healthy controls have alleles up to 24 repeats [@pmid:28319737] yet 24-30 repeats are associated with ALS [@pmid:31315673] and while 60 repeats is frequently used as a threshold for uncertain alleles, the exact threshold of pathogenicity remains unclear [@genereviews:NBK268647; @pmid:38099605]. Repeat of 80 motifs and lower appear to have delayed onset for any phenotype [@pmid:28319737]. >250 repeats are associated with a full FTD/ALS disease state [@pmid:31048495], but pathogenic alleles can range from 30 to more than 4000 repeats [@pmid:38099605]. Penetrance appears to also be age-dependent, with environmental factors and specific phenotypes associated with sex and age at onset [@pmid:28522837].",
+ "details": "FTD and ALS form a clinical spectrum [@pmid:37388914; @pmid:22406228]. The clinical ranges of the C9orf72 locus remain ambiguous [@stripy:C9ORF72]: most healthy controls have alleles up to 24 repeats [@pmid:28319737] yet 24-30 repeats are associated with ALS [@pmid:31315673] and while 60 repeats is frequently used as a threshold for uncertain alleles, the exact threshold of pathogenicity remains unclear [@genereviews:NBK268647; @pmid:38099605]. Repeat of 80 motifs and lower appear to have delayed onset for any phenotype [@pmid:28319737]. >250 repeats are associated with a full FTD/ALS disease state [@pmid:31048495], but pathogenic alleles can range from 30 to more than 4000 repeats [@pmid:38099605; @pmid:39709476]. Penetrance appears to also be age-dependent, with environmental factors and specific phenotypes associated with sex and age at onset [@pmid:28522837]. Methylation appears to increase with expansion length and age [@pmid:39709476].",
"omim": ["105500"],
"prevalence": null,
"prevalence_details": "The expansion of a hexanucleotide repeat GGGGCC in C9orf72 is the most common known cause of ALS accounting for ~ 40% familial cases and ~ 7% sporadic cases in the European population; overall ALS incidence is 1-2/100,000 person-years, point prevalence is 3-5/100,000 (Europe/US); lifetime risk is 1 in 300 [@pmid:31315673]. Related individuals to patients with C9orf72-ALS appear at an increased risk of disease regardless of carrier status [@pmid:38149039; @pmid:39315390]. C9orf72-FTD is estimated to be 0.04-134:100,000 [@genereviews:NBK268647], and by our estimates 0.65-1.56/100,000 for C9orf72-ALS. The expansion has been found across ethnicities/ancestries, with population-dependent prevalence, highest in those with northern European ancestry [@genereviews:NBK268647].",
@@ -1099,8 +1099,8 @@
"disease_id": "DM2",
"gene_strand": "-",
"reference_motif_reference_orientation": ["CAGG"],
- "pathogenic_motif_reference_orientation": ["CAGG"],
- "pathogenic_motif_gene_orientation": ["CCTG"],
+ "pathogenic_motif_reference_orientation": ["CAGG", "CAGA"],
+ "pathogenic_motif_gene_orientation": ["CCTG", "TCTG"],
"benign_motif_reference_orientation": [],
"benign_motif_gene_orientation": [],
"unknown_motif_reference_orientation": [],
@@ -1129,7 +1129,7 @@
"mechanism": "GoF",
"mechanism_detail": "Aberrant splicing, RAN translation [@pmid:22140091; @pmid:38467784].",
"source": [],
- "details": "Detailed overview of disease locus through 2024 by Rimoldi et al [@pmid:39643839]. ≤30 uninterrupted CCTG repeats or 11-26 CCTG repeats with GCTC/TCTG interruptions are considered benign; 27-29 repeats with interruptions have currently unknown significance, ~30-~54 repeats are considered premutations, ~55-74 repeats are premutations with possible reduced penetrance, and >74 repeat alleles are considered pathogenic [@genereviews:NBK1466]. Penetrance is age-dependent and approaches 100%. Locus structure is (TG)n(TCTG)n(CCTG)n. CCTG expansion causes DM2 but the other repeat units are also variable. Interruptions include GCTG/TCTG/GGCT [@pmid:35245110].",
+ "details": "Detailed overview of disease locus through 2024 by Rimoldi et al [@pmid:39643839]. ≤30 uninterrupted CCTG repeats or 11-26 CCTG repeats with GCTC/TCTG interruptions are considered benign; 27-29 repeats with interruptions have currently unknown significance, ~30-~54 repeats are considered premutations, ~55-74 repeats are premutations with possible reduced penetrance, and >74 repeat alleles are considered pathogenic [@genereviews:NBK1466]. Penetrance is age-dependent and approaches 100%. Locus structure is (TG)n(TCTG)n(CCTG)n. CCTG expansion causes DM2 but the other repeat units are also variable. Interruptions include GCTG/TCTG/GGCT [@pmid:35245110; @pmid:39703464].",
"omim": ["602668"],
"prevalence": "2.29/100000",
"prevalence_details": "2.29/100,000 [@pmid:35483324]; population specific prevalence [@genereviews:NBK1466]. Most cases have European ancestry, but disease has been reported worldwide [@genereviews:NBK1466].",
@@ -1513,7 +1513,7 @@
"mechanism": "GoF",
"mechanism_detail": "RNA gain-of-function: RNA gelation leading to misregulation of alternative splicing [@pmid:36169768].",
"source": [],
- "details": "Overview of disease locus through 2024, including largest pathogenic allele of 4,000, described in Rimoldi et al review [@pmid:39643839]. Intermediate alleles (35-49) associated with premutation [@genereviews:NBK1165]. 3%-8% of DM1 expansions contain variant repeats such as CCG and CGG, associated with later onset and milder phenotype [@pmid:32851192]. In another study, interruptions of the CTG repeat with CCG, GGC, CTC or CAG motifs are estimated to occur in 3-11% of DM1 patients [@pmid:35741732].",
+ "details": "Overview of disease locus through 2024, including largest pathogenic allele of 4,000, described in Rimoldi et al review [@pmid:39643839]. Intermediate alleles (35-49) associated with premutation [@genereviews:NBK1165]. 3%-8% of DM1 expansions contain interrupting variant repeats such as CCG and CGG, associated with later onset and milder phenotype; the variant repeat GCGGCA has also been reported [@pmid:32851192; @doi:10.1016/j.mcp.2024.102005]. In another study, interruptions of the CTG repeat with CCG, GGC, CTC or CAG motifs are estimated to occur in 3-11% of DM1 patients [@pmid:35741732]. Expansions within gene ZNF850 may function as DM1 modifiers [@doi:10.1093/hmg/ddae186].",
"omim": ["160900"],
"prevalence": "9.27/100000",
"prevalence_details": "5-20/100,000 [@genereviews:NBK1165]. 0.5-18.1/100,000 [@pmid:29100084]; 6.5/100,000 [@pmid:31159885]. 9.27 cases (95% CI: 4.73-15.21) per 100,000, ranging from 0.37 to 36.29 cases per 100,000 [@pmid:35483324]. Found across ethnicities/ancestries, with population-dependent prevalence [@genereviews:NBK1165].",
@@ -4012,7 +4012,7 @@
"details": "Most controls have <40 repeats while majority of patients have >50 repeats; penetrance is <100%, as unaffected individuals have been documented with >80 repeats and alleles of affected individuals range from 12-2600 [@genereviews:NBK535148; @pmid:25168903]. Expansions are causative in approximately 70% of disease cases [@genereviews:NBK535148].",
"omim": ["613267"],
"prevalence": "4.5/100",
- "prevalence_details": "~4/100 (over 40) [@omim:613267]; 5/100 [@pmid:20825314]. Predominantly in women (~75%) [@pmid:16769829]. Although studies on the prevalence of FECD worldwide are limited, the disorder is thought to be more common in Eurasian populations [@pmid:26401622], with its corneal manifestations documented in 11% of females and 7% of males in Reykjavik, Iceland, 8.5 % of Singapore Chinese, and 5.5% of Japanese [@pmid:25722209]. Uncommon/rare in Saudi Arabia, Singaporean Chinese, and Japan [@orphanet:98974].",
+ "prevalence_details": "~4/100 (over 40) [@omim:613267]; 5/100 [@pmid:20825314]. Predominantly in women (~75%) [@pmid:16769829]. In one study of two cohorts (Dallas Heart Study and 1000 Genomes Project), expanded allele carrier rates were 3.1% (African American), 8.1% (European American), and 3.3% (Latinos)in DHS, and 2.7% (AFR), 9.5% (EUR), 5.2% (East Asians), 7.2% (South Asians), and 5.2% (admixed Americans) in 1KGP [@pmid:39669694]. The highest carrier prevalence (12.1%–12.5%) occurred in EUR and admixed American subpopulations, while rates were 0%–1.9% in West Africans vs 6.2% in a Kenyan subpopulation.",
"stripy": ["TCF4"],
"gnomad": ["TCF4"],
"genereviews": ["NBK535148"],
@@ -4670,4 +4670,4 @@
"disease_tags": [],
"references": ["pmid:38714868", "pmid:38714869", "omim:609893"],
"additional_literature": []
-}]
\ No newline at end of file
+}]
From 21c1d44d9f52394584deb79a36f0a8a741665054 Mon Sep 17 00:00:00 2001
From: laurelhiatt
Date: Thu, 9 Jan 2025 23:31:38 +0000
Subject: [PATCH 3/6] Update data
---
data/STRchive-disease-loci.T2T-chm13.bed | 2 +-
data/STRchive-disease-loci.hg19.bed | 2 +-
data/STRchive-disease-loci.hg38.bed | 2 +-
data/STRchive-loci.json | 4 ++--
data/plots/path-size.json | 2 +-
5 files changed, 6 insertions(+), 6 deletions(-)
diff --git a/data/STRchive-disease-loci.T2T-chm13.bed b/data/STRchive-disease-loci.T2T-chm13.bed
index b0a321b3..36863e9a 100644
--- a/data/STRchive-disease-loci.T2T-chm13.bed
+++ b/data/STRchive-disease-loci.T2T-chm13.bed
@@ -9,7 +9,7 @@ chr2 100563686 100563738 FRA2A_AFF3 AFF3 GCC 300 AD Intellectual disability asso
chr2 176581179 176581220 SD5_HOXD13 HOXD13 GCN 22 AD Syndactyly
chr2 191369983 191370024 GDPAG_GLS GLS GCA 680 AR Glutaminase deficiency
chr3 63956303 63956334 SCA7_ATXN7 ATXN7 CAG 37 AD Spinocerebellar Ataxia Type 7
-chr3 131917483 131917557 DM2_CNBP CNBP CAGG 75 AD Myotonic Dystrophy Type 2
+chr3 131917483 131917557 DM2_CNBP CNBP CAGG,CAGA 75 AD Myotonic Dystrophy Type 2
chr3 141687014 141687051 BPES_FOXL2 FOXL2 NGC 15 AD,AR Blepharophimosis, epicanthus inversus, and ptosis
chr3 186521657 186521706 FAME4_YEATS2 YEATS2 TTTCA 1000 AD Familial adult myoclonic epilepsy 4
chr4 3073604 3073694 HD_HTT HTT CAG 40 AD Huntington disease
diff --git a/data/STRchive-disease-loci.hg19.bed b/data/STRchive-disease-loci.hg19.bed
index 64dbae54..adbc846c 100644
--- a/data/STRchive-disease-loci.hg19.bed
+++ b/data/STRchive-disease-loci.hg19.bed
@@ -9,7 +9,7 @@ chr2 100721261 100721286 FRA2A_AFF3 AFF3 GCC 300 AD Intellectual disability asso
chr2 176957786 176957831 SD5_HOXD13 HOXD13 GCN 22 AD Syndactyly
chr2 191745599 191745646 GDPAG_GLS GLS GCA 680 AR Glutaminase deficiency
chr3 63898361 63898392 SCA7_ATXN7 ATXN7 CAG 37 AD Spinocerebellar Ataxia Type 7
-chr3 128891420 128891502 DM2_CNBP CNBP CAGG 75 AD Myotonic Dystrophy Type 2
+chr3 128891420 128891502 DM2_CNBP CNBP CAGG,CAGA 75 AD Myotonic Dystrophy Type 2
chr3 138664862 138664904 BPES_FOXL2 FOXL2 NGC 15 AD,AR Blepharophimosis, epicanthus inversus, and ptosis
chr3 183429976 183430010 FAME4_YEATS2 YEATS2 TTTCA 1000 AD Familial adult myoclonic epilepsy 4
chr4 3076604 3076667 HD_HTT HTT CAG 40 AD Huntington disease
diff --git a/data/STRchive-disease-loci.hg38.bed b/data/STRchive-disease-loci.hg38.bed
index de4dc678..4f19aeab 100644
--- a/data/STRchive-disease-loci.hg38.bed
+++ b/data/STRchive-disease-loci.hg38.bed
@@ -9,7 +9,7 @@ chr2 100104799 100104824 FRA2A_AFF3 AFF3 GCC 300 AD Intellectual disability asso
chr2 176093058 176093103 SD5_HOXD13 HOXD13 GCN 22 AD Syndactyly
chr2 190880873 190880920 GDPAG_GLS GLS GCA 680 AR Glutaminase deficiency
chr3 63912685 63912716 SCA7_ATXN7 ATXN7 CAG 37 AD Spinocerebellar Ataxia Type 7
-chr3 129172577 129172659 DM2_CNBP CNBP CAGG 75 AD Myotonic Dystrophy Type 2
+chr3 129172577 129172659 DM2_CNBP CNBP CAGG,CAGA 75 AD Myotonic Dystrophy Type 2
chr3 138946020 138946062 BPES_FOXL2 FOXL2 NGC 15 AD,AR Blepharophimosis, epicanthus inversus, and ptosis
chr3 183712188 183712222 FAME4_YEATS2 YEATS2 TTTCA 1000 AD Familial adult myoclonic epilepsy 4
chr4 3074877 3074940 HD_HTT HTT CAG 40 AD Huntington disease
diff --git a/data/STRchive-loci.json b/data/STRchive-loci.json
index 0fb4a329..1b3399b4 100644
--- a/data/STRchive-loci.json
+++ b/data/STRchive-loci.json
@@ -1100,7 +1100,7 @@
"gene_strand": "-",
"reference_motif_reference_orientation": ["CAGG"],
"pathogenic_motif_reference_orientation": ["CAGG", "CAGA"],
- "pathogenic_motif_gene_orientation": ["CCTG", "TCTG"],
+ "pathogenic_motif_gene_orientation": ["CCTG", "CTGT"],
"benign_motif_reference_orientation": [],
"benign_motif_gene_orientation": [],
"unknown_motif_reference_orientation": [],
@@ -4670,4 +4670,4 @@
"disease_tags": [],
"references": ["pmid:38714868", "pmid:38714869", "omim:609893"],
"additional_literature": []
-}]
+}]
\ No newline at end of file
diff --git a/data/plots/path-size.json b/data/plots/path-size.json
index 53774b75..57107204 100644
--- a/data/plots/path-size.json
+++ b/data/plots/path-size.json
@@ -44,7 +44,7 @@
"offset": -0.3,
"orientation": "h",
"width": 0.6,
- "x": [0, 18500, 1220, 11100, 0, 2460, 11750, 22494, 1420, 0, 0, 1851, 0, 99, 5397, 5397, 3250, 17875, 1617, 612, 231, 1728, 597, 43700, 10700, 40, 612, 273, 114, 3687, 102, 1353, 81, 4932, 220, 81, 7647, 11850, 51, 135, 84, 165, 630, 60, 264, 156, 90, 1269, 1395, 21, 0, 0, 0, 30, 3, 12, 0, 39, 21, 0, 3, 30, 27, 1625, 18, 0, 3, 0, 20, 0],
+ "x": [0, 18500, 1220, 11100, 0, 2460, 11750, 23022, 1420, 0, 0, 1851, 0, 99, 5397, 5397, 3250, 17875, 1617, 612, 231, 1728, 597, 43700, 10700, 40, 612, 273, 114, 3687, 102, 1353, 81, 4932, 220, 81, 7647, 11850, 51, 135, 84, 165, 630, 60, 264, 156, 90, 1269, 1395, 21, 0, 0, 0, 30, 3, 12, 0, 39, 21, 0, 3, 30, 27, 1625, 18, 0, 3, 0, 20, 0],
"y": ["FAME4", "SCA10", "FAME3", "SCA36", "FAME6", "GDPAG", "CANVAS", "FTDALS1", "FAME2", "FRA7A", "NME", "SCA27B", "FRA2A", "FRA12A", "FRAXE", "FXS, FXTAS, POF1", "SCA31", "FAME1", "OPML1", "EPM1", "OPDM4", "OPDM", "JBS", "DM2", "FAME7", "RCPS", "OPDM1", "OPDM2", "DBQD2, BSS", "SCA8", "XDP", "NIID", "SCA3, MJD", "FRDA", "SCA37", "SCA12", "FECD3", "DM1", "SCA17", "DRPLA", "SCA4", "SCA", "HD", "HDL2", "CJD", "SCA1", "SBMA", "SCA7", "SCA2", "CCHS", "TOF", "HPE5", "HFG-I", "HFG-III", "SD5", "XLMR", "PRTS", "SCA6", "CCD", "HFG-II", "HSAN VIII", "EIEE1", "BPES", "FAME8", "OPMD", "VACTERLX", "EDM1, PSACH", "CHNG3", "HMNR7", "ADTKD"],
"type": "bar"
},
From a2458474ebf97cd84ca2ae3976c98e14c6d4679a Mon Sep 17 00:00:00 2001
From: "Laurel (they/he)" <85411760+laurelhiatt@users.noreply.github.com>
Date: Mon, 13 Jan 2025 09:53:23 -0700
Subject: [PATCH 4/6] DM2 from pathogenic -> unknown motif
resolving comment
---
data/STRchive-loci.json | 12 ++++++------
1 file changed, 6 insertions(+), 6 deletions(-)
diff --git a/data/STRchive-loci.json b/data/STRchive-loci.json
index 1b3399b4..05253113 100644
--- a/data/STRchive-loci.json
+++ b/data/STRchive-loci.json
@@ -1099,12 +1099,12 @@
"disease_id": "DM2",
"gene_strand": "-",
"reference_motif_reference_orientation": ["CAGG"],
- "pathogenic_motif_reference_orientation": ["CAGG", "CAGA"],
- "pathogenic_motif_gene_orientation": ["CCTG", "CTGT"],
+ "pathogenic_motif_reference_orientation": ["CAGG"],
+ "pathogenic_motif_gene_orientation": ["CCTG"],
"benign_motif_reference_orientation": [],
"benign_motif_gene_orientation": [],
- "unknown_motif_reference_orientation": [],
- "unknown_motif_gene_orientation": [],
+ "unknown_motif_reference_orientation": ["CAGA"],
+ "unknown_motif_gene_orientation": ["CTGT"],
"disease": "Myotonic Dystrophy Type 2",
"gene": "CNBP",
"flank_motif": "(CAGG)n(CAGA)10(CA)19",
@@ -1129,7 +1129,7 @@
"mechanism": "GoF",
"mechanism_detail": "Aberrant splicing, RAN translation [@pmid:22140091; @pmid:38467784].",
"source": [],
- "details": "Detailed overview of disease locus through 2024 by Rimoldi et al [@pmid:39643839]. ≤30 uninterrupted CCTG repeats or 11-26 CCTG repeats with GCTC/TCTG interruptions are considered benign; 27-29 repeats with interruptions have currently unknown significance, ~30-~54 repeats are considered premutations, ~55-74 repeats are premutations with possible reduced penetrance, and >74 repeat alleles are considered pathogenic [@genereviews:NBK1466]. Penetrance is age-dependent and approaches 100%. Locus structure is (TG)n(TCTG)n(CCTG)n. CCTG expansion causes DM2 but the other repeat units are also variable. Interruptions include GCTG/TCTG/GGCT [@pmid:35245110; @pmid:39703464].",
+ "details": "Detailed overview of disease locus through 2024 by Rimoldi et al [@pmid:39643839]. ≤30 uninterrupted CCTG repeats or 11-26 CCTG repeats with GCTC/TCTG interruptions are considered benign; 27-29 repeats with interruptions have currently unknown significance, ~30-~54 repeats are considered premutations, ~55-74 repeats are premutations with possible reduced penetrance, and >74 repeat alleles are considered pathogenic [@genereviews:NBK1466]. Penetrance is age-dependent and approaches 100%. Locus structure is (TG)n(TCTG)n(CCTG)n. CCTG expansion causes DM2 but the other repeat units are also variable. Interruptions include GCTG/TCTG/GGCT [@pmid:35245110]. The effect of the (TCTG)n repeat remains to be determined, but it is potentially common in the repeat structure of this locus [@pmid:39703464].",
"omim": ["602668"],
"prevalence": "2.29/100000",
"prevalence_details": "2.29/100,000 [@pmid:35483324]; population specific prevalence [@genereviews:NBK1466]. Most cases have European ancestry, but disease has been reported worldwide [@genereviews:NBK1466].",
@@ -4670,4 +4670,4 @@
"disease_tags": [],
"references": ["pmid:38714868", "pmid:38714869", "omim:609893"],
"additional_literature": []
-}]
\ No newline at end of file
+}]
From a9897be0a32caccc4855b345328f9d846fffb545 Mon Sep 17 00:00:00 2001
From: laurelhiatt <85411760+laurelhiatt@users.noreply.github.com>
Date: Mon, 13 Jan 2025 16:56:09 +0000
Subject: [PATCH 5/6] Update data
---
data/STRchive-disease-loci.T2T-chm13.bed | 2 +-
data/STRchive-disease-loci.hg19.bed | 2 +-
data/STRchive-disease-loci.hg38.bed | 2 +-
data/STRchive-loci.json | 2 +-
4 files changed, 4 insertions(+), 4 deletions(-)
diff --git a/data/STRchive-disease-loci.T2T-chm13.bed b/data/STRchive-disease-loci.T2T-chm13.bed
index 36863e9a..b0a321b3 100644
--- a/data/STRchive-disease-loci.T2T-chm13.bed
+++ b/data/STRchive-disease-loci.T2T-chm13.bed
@@ -9,7 +9,7 @@ chr2 100563686 100563738 FRA2A_AFF3 AFF3 GCC 300 AD Intellectual disability asso
chr2 176581179 176581220 SD5_HOXD13 HOXD13 GCN 22 AD Syndactyly
chr2 191369983 191370024 GDPAG_GLS GLS GCA 680 AR Glutaminase deficiency
chr3 63956303 63956334 SCA7_ATXN7 ATXN7 CAG 37 AD Spinocerebellar Ataxia Type 7
-chr3 131917483 131917557 DM2_CNBP CNBP CAGG,CAGA 75 AD Myotonic Dystrophy Type 2
+chr3 131917483 131917557 DM2_CNBP CNBP CAGG 75 AD Myotonic Dystrophy Type 2
chr3 141687014 141687051 BPES_FOXL2 FOXL2 NGC 15 AD,AR Blepharophimosis, epicanthus inversus, and ptosis
chr3 186521657 186521706 FAME4_YEATS2 YEATS2 TTTCA 1000 AD Familial adult myoclonic epilepsy 4
chr4 3073604 3073694 HD_HTT HTT CAG 40 AD Huntington disease
diff --git a/data/STRchive-disease-loci.hg19.bed b/data/STRchive-disease-loci.hg19.bed
index adbc846c..64dbae54 100644
--- a/data/STRchive-disease-loci.hg19.bed
+++ b/data/STRchive-disease-loci.hg19.bed
@@ -9,7 +9,7 @@ chr2 100721261 100721286 FRA2A_AFF3 AFF3 GCC 300 AD Intellectual disability asso
chr2 176957786 176957831 SD5_HOXD13 HOXD13 GCN 22 AD Syndactyly
chr2 191745599 191745646 GDPAG_GLS GLS GCA 680 AR Glutaminase deficiency
chr3 63898361 63898392 SCA7_ATXN7 ATXN7 CAG 37 AD Spinocerebellar Ataxia Type 7
-chr3 128891420 128891502 DM2_CNBP CNBP CAGG,CAGA 75 AD Myotonic Dystrophy Type 2
+chr3 128891420 128891502 DM2_CNBP CNBP CAGG 75 AD Myotonic Dystrophy Type 2
chr3 138664862 138664904 BPES_FOXL2 FOXL2 NGC 15 AD,AR Blepharophimosis, epicanthus inversus, and ptosis
chr3 183429976 183430010 FAME4_YEATS2 YEATS2 TTTCA 1000 AD Familial adult myoclonic epilepsy 4
chr4 3076604 3076667 HD_HTT HTT CAG 40 AD Huntington disease
diff --git a/data/STRchive-disease-loci.hg38.bed b/data/STRchive-disease-loci.hg38.bed
index 4f19aeab..de4dc678 100644
--- a/data/STRchive-disease-loci.hg38.bed
+++ b/data/STRchive-disease-loci.hg38.bed
@@ -9,7 +9,7 @@ chr2 100104799 100104824 FRA2A_AFF3 AFF3 GCC 300 AD Intellectual disability asso
chr2 176093058 176093103 SD5_HOXD13 HOXD13 GCN 22 AD Syndactyly
chr2 190880873 190880920 GDPAG_GLS GLS GCA 680 AR Glutaminase deficiency
chr3 63912685 63912716 SCA7_ATXN7 ATXN7 CAG 37 AD Spinocerebellar Ataxia Type 7
-chr3 129172577 129172659 DM2_CNBP CNBP CAGG,CAGA 75 AD Myotonic Dystrophy Type 2
+chr3 129172577 129172659 DM2_CNBP CNBP CAGG 75 AD Myotonic Dystrophy Type 2
chr3 138946020 138946062 BPES_FOXL2 FOXL2 NGC 15 AD,AR Blepharophimosis, epicanthus inversus, and ptosis
chr3 183712188 183712222 FAME4_YEATS2 YEATS2 TTTCA 1000 AD Familial adult myoclonic epilepsy 4
chr4 3074877 3074940 HD_HTT HTT CAG 40 AD Huntington disease
diff --git a/data/STRchive-loci.json b/data/STRchive-loci.json
index 05253113..2cc11de4 100644
--- a/data/STRchive-loci.json
+++ b/data/STRchive-loci.json
@@ -4670,4 +4670,4 @@
"disease_tags": [],
"references": ["pmid:38714868", "pmid:38714869", "omim:609893"],
"additional_literature": []
-}]
+}]
\ No newline at end of file
From 58a3ab04e6c6c34f79894e999a88f6aa282bad85 Mon Sep 17 00:00:00 2001
From: Harriet Dashnow
Date: Mon, 13 Jan 2025 10:24:00 -0700
Subject: [PATCH 6/6] Update version in CITATION.cff
---
CITATION.cff | 2 +-
1 file changed, 1 insertion(+), 1 deletion(-)
diff --git a/CITATION.cff b/CITATION.cff
index f0578b80..7faf5f5b 100644
--- a/CITATION.cff
+++ b/CITATION.cff
@@ -1,5 +1,5 @@
title: STRchive
-version: 2.0.1
+version: 2.1.0
date-released: "2024-12-12"
url: https://github.com/dashnowlab/STRchive
authors: