دورية أكاديمية
أعرض في EDS

Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis.

التفاصيل البيبلوغرافية
العنوان: Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis.
المؤلفون: Abramzon Y; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London WC1N 1PJ, UK. Electronic address: yevgeniya.abramzon@nih.gov., Dewan R; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA., Cortese A; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Resnick S; Laboratory of Behavioral Neuroscience, National Institute on Aging, NIH, Baltimore, MD 21224, USA., Ferrucci L; Translational Gerontology Branch, National Institute on Aging, NIH, Baltimore, MD 21224, USA., Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK., Traynor BJ; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London WC1N 1PJ, UK; Neurology Department, Johns Hopkins University, Baltimore, MD 21205, USA.
المصدر: Journal of the neurological sciences [J Neurol Sci] 2021 Nov 15; Vol. 430, pp. 118061. Date of Electronic Publication: 2021 Aug 31.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5883 (Electronic) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Amsterdam : Elsevier, <19 ->
مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis*/genetics, C9orf72 Protein ; Cohort Studies ; DNA Repeat Expansion ; Humans ; Replication Protein C/genetics
مستخلص: A homozygous AAGGG repeat expansion within the RFC1 gene was recently described as a common cause of CANVAS syndrome. We examined 1069 sporadic ALS patients for the presence of this repeat expansion. We did not discover any carriers of the homozygous AAGGG expansion in our ALS cohort, indicating that this form of RFC1 repeat expansions is not a common cause of sporadic ALS. However, our study did identify a novel repeat conformation and further expanded on the highly polymorphic nature of the RFC1 locus.
(Copyright © 2021 Elsevier B.V. All rights reserved.)
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معلومات مُعتمدة: MR/T001712/1 United Kingdom MRC_ Medical Research Council; Z01 AG000949 United States ImNIH Intramural NIH HHS; Z99 AG999999 United States ImNIH Intramural NIH HHS; ZIA AG000933 United States ImNIH Intramural NIH HHS
فهرسة مساهمة: Keywords: ALS; Motor neuron disorders; RFC1
المشرفين على المادة: 0 (C9orf72 Protein)
EC 3.6.4.- (Replication Protein C)
تواريخ الأحداث: Date Created: 20210919 Date Completed: 20211116 Latest Revision: 20221116
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC9014296
DOI: 10.1016/j.jns.2021.118061
PMID: 34537679
قاعدة البيانات: MEDLINE
الوصف
تدمد:1878-5883
DOI:10.1016/j.jns.2021.118061