A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes
Author:
Funder
CHDI Foundation
Wellcome Trust
Rosetrees Trust
MRC
Publisher
Elsevier BV
Subject
General Biochemistry, Genetics and Molecular Biology,General Medicine
Reference41 articles.
1. Cis- and trans-modifiers of repeat expansions: blending model systems with human genetics;McGinty;Trends Genet,2018
2. Huntington disease;Caron,1998
3. Huntington disease reduced penetrance alleles occur at high frequency in the general population;Kay;Neurology,2016
4. Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis;Kennedy;Hum Mol Genet,2003
5. Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain;Shelbourne;Hum Mol Genet,2007
Cited by 94 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Cell-type-specific CAG repeat expansions and toxicity of mutant Huntingtin in human striatum and cerebellum;Nature Genetics;2024-01-30
2. Selective vulnerability of layer 5a corticostriatal neurons in Huntington’s disease;Neuron;2024-01
3. Huntington disease-like 2: insight into neurodegeneration from an African disease;Nature Reviews Neurology;2023-12-19
4. A programmable dual-targeting di-valent siRNA scaffold supports potent multi-gene modulation in the central nervous system;2023-12-19
5. Therapeutic validation of MMR-associated genetic modifiers in a humanex vivomodel of Huntington’s disease;2023-12-07
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3