亨廷顿舞蹈症中的基因修饰因子：虚构还是事实？ - Suppr

Suppr

超能文献

Genetic modifiers in Huntington's disease: fiction or fact?

作者信息

Arning Larissa, Epplen Jörg T

机构信息

Human Genetics, Ruhr University, 44780, Bochum, Germany,

出版信息

Neurogenetics. 2013 Nov;14(3-4):171-2. doi: 10.1007/s10048-013-0365-x.

DOI:10.1007/s10048-013-0365-x

PMID:23754186

Abstract

摘要

相似文献

Genetic modifiers in Huntington's disease: fiction or fact?亨廷顿舞蹈症中的基因修饰因子：虚构还是事实？

Neurogenetics. 2013 Nov;14(3-4):171-2. doi: 10.1007/s10048-013-0365-x.

Interrupting sequence variants and age of onset in Huntington's disease: clinical implications and emerging therapies.亨廷顿病中断序列变异和发病年龄：临床意义和新兴疗法。

Lancet Neurol. 2020 Nov;19(11):930-939. doi: 10.1016/S1474-4422(20)30343-4.

Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis.青少年亨廷顿病的生物学和临床表现：回顾性分析。

Lancet Neurol. 2018 Nov;17(11):986-993. doi: 10.1016/S1474-4422(18)30294-1. Epub 2018 Sep 19.

Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number.对亨廷顿基因的分析揭示，在该基因区域存在一种三核苷酸长度多态性，该区域包含两个富含CCG的片段，且亨廷顿病发病年龄的降低与CAG重复数之间存在相关性。

Hum Mol Genet. 1993 Oct;2(10):1713-5. doi: 10.1093/hmg/2.10.1713.

The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease.UCHL1基因中的S18Y多态性是亨廷顿舞蹈病的一种基因修饰因子。

Neurogenetics. 2006 Mar;7(1):27-30. doi: 10.1007/s10048-005-0023-z. Epub 2005 Dec 21.

Mutation size and age at onset in Huntington's disease.亨廷顿舞蹈症的突变大小与发病年龄

J Med Genet. 1993 Dec;30(12):1008-11. doi: 10.1136/jmg.30.12.1008.

Age at onset in Huntington's disease: replication study on the association of HAP1.亨廷顿病发病年龄：HAP1 与发病年龄关联的复制研究。

Parkinsonism Relat Disord. 2012 Nov;18(9):1027-8. doi: 10.1016/j.parkreldis.2012.05.020. Epub 2012 Jun 12.

Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds.针对委内瑞拉大型家系中亨廷顿舞蹈病发病剩余年龄的十二项关联研究的重复验证。

J Med Genet. 2007 Jan;44(1):44-50. doi: 10.1136/jmg.2006.045153. Epub 2006 Oct 3.

Diabetes Mellitus Is Associated With an Earlier Age of Onset of Huntington's Disease.糖尿病与亨廷顿舞蹈症的发病年龄提前有关。

Mov Disord. 2021 Apr;36(4):1033-1034. doi: 10.1002/mds.28460. Epub 2020 Dec 24.

Genetics of Huntington disease.亨廷顿舞蹈症的遗传学

Handb Clin Neurol. 2017;144:3-14. doi: 10.1016/B978-0-12-801893-4.00001-8.

引用本文的文献

Mechanisms underlying phenotypic variation in neurogenetic disorders.神经遗传疾病表型变异的潜在机制。

Nat Rev Neurol. 2023 Jun;19(6):363-370. doi: 10.1038/s41582-023-00811-4. Epub 2023 May 18.

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression.儿茶酚-O-甲基转移酶（COMT）缬氨酸158位甲硫氨酸多态性调节亨廷顿舞蹈病的进展。

PLoS One. 2016 Sep 22;11(9):e0161106. doi: 10.1371/journal.pone.0161106. eCollection 2016.

本文引用的文献

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.候选的谷氨酸能和多巴胺能通路基因变异不会影响亨廷顿舞蹈病的运动发病。

Neurogenetics. 2013 Nov;14(3-4):173-9. doi: 10.1007/s10048-013-0364-y. Epub 2013 May 4.

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset.人群分层可能会影响 PGC-1α 作为亨廷顿病运动起始年龄修饰因子的分析结果。

Hum Genet. 2012 Dec;131(12):1833-40. doi: 10.1007/s00439-012-1205-z. Epub 2012 Jul 25.

Mechanisms underlying NMDA receptor synaptic/extrasynaptic distribution and function.NMDA 受体突触/ extrasynaptic 分布和功能的基础机制。

Mol Cell Neurosci. 2011 Dec;48(4):308-20. doi: 10.1016/j.mcn.2011.05.001. Epub 2011 May 7.

Localization of sequence variations in PGC-1α influence their modifying effect in Huntington disease.PGC-1α 序列变异的定位影响其在亨廷顿病中的修饰作用。

Mol Neurodegener. 2011 Jan 6;6(1):1. doi: 10.1186/1750-1326-6-1.

PGC-1alpha as modifier of onset age in Huntington disease.PGC-1α 作为亨廷顿病发病年龄的修饰因子。

Mol Neurodegener. 2009 Feb 6;4:10. doi: 10.1186/1750-1326-4-10.

The gene coding for PGC-1alpha modifies age at onset in Huntington's Disease.PGC-1alpha 基因的编码可改变亨廷顿病的发病年龄。

Mol Neurodegener. 2009 Jan 8;4:3. doi: 10.1186/1750-1326-4-3.

Non-replication of association studies: "pseudo-failures" to replicate?关联研究的不可重复性：是“伪失败”导致无法重复吗？

Genet Med. 2007 Jun;9(6):325-31. doi: 10.1097/gim.0b013e3180676d79.

N-methyl-D-aspartate (NMDA) receptor function and excitotoxicity in Huntington's disease.N-甲基-D-天冬氨酸（NMDA）受体功能与亨廷顿舞蹈病中的兴奋毒性作用

Prog Neurobiol. 2007 Apr;81(5-6):272-93. doi: 10.1016/j.pneurobio.2006.11.003. Epub 2006 Dec 22.

Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset.委内瑞拉家族研究表明，遗传和环境因素会调节亨廷顿舞蹈症的发病年龄。

Proc Natl Acad Sci U S A. 2004 Mar 9;101(10):3498-503. doi: 10.1073/pnas.0308679101. Epub 2004 Mar 1.

The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD.正常的亨廷顿舞蹈症（HD）等位基因，或一个紧密连锁的基因，会影响亨廷顿舞蹈症的发病年龄。

Am J Hum Genet. 1993 Jul;53(1):125-30.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验