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1
Inherited neurodegenerative disorders caused by CAG/polyglutamine tract expansions: symposium introduction.由 CAG/聚谷氨酰胺序列扩增引起的遗传性神经退行性疾病:研讨会介绍
Brain Pathol. 1997 Jul;7(3):877-80. doi: 10.1111/j.1750-3639.1997.tb00891.x.
2
Trinucleotide repeat disorders in humans: discussions of mechanisms and medical issues.人类三核苷酸重复序列疾病:机制与医学问题探讨
FASEB J. 1996 Dec;10(14):1589-97. doi: 10.1096/fasebj.10.14.9002550.
3
Trinucleotide repeats in neurogenetic disorders.神经遗传性疾病中的三核苷酸重复序列。
Annu Rev Neurosci. 1996;19:79-107. doi: 10.1146/annurev.ne.19.030196.000455.
4
Analysis of triplet-repeat DNA by capillary electrophoresis.通过毛细管电泳分析三核苷酸重复DNA。
Methods Mol Biol. 2001;163:221-9. doi: 10.1385/1-59259-116-7:221.
5
Clinical aspects of CAG repeat diseases.CAG重复序列疾病的临床方面。
Brain Pathol. 1997 Jul;7(3):881-900. doi: 10.1111/j.1750-3639.1997.tb00892.x.
6
Mouse models of human CAG repeat disorders.人类CAG重复序列疾病的小鼠模型。
Brain Pathol. 1997 Jul;7(3):965-77. doi: 10.1111/j.1750-3639.1997.tb00896.x.
7
Trinucleotide repeat expansions in neurological disease.神经疾病中的三核苷酸重复序列扩增
Curr Opin Neurobiol. 1993 Oct;3(5):752-9. doi: 10.1016/0959-4388(93)90149-s.
8
The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis.CAG/聚谷氨酰胺重复序列疾病:基因产物与分子发病机制
Brain Pathol. 1997 Jul;7(3):927-42. doi: 10.1111/j.1750-3639.1997.tb00894.x.
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[Triplet repeat expansions in hereditary neurodegenerative diseases].[遗传性神经退行性疾病中的三联体重复序列扩增]
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[Genetic diseases and unstable expansions of trinucleotide repeats].[遗传性疾病与三核苷酸重复序列的不稳定扩增]
Rev Prat. 1997 Jan 15;47(2):155-61.

引用本文的文献

1
From neuronal inclusions to neurodegeneration: neuropathological investigation of a transgenic mouse model of Huntington's disease.从神经元内含物到神经退行性变:亨廷顿舞蹈病转基因小鼠模型的神经病理学研究
Philos Trans R Soc Lond B Biol Sci. 1999 Jun 29;354(1386):971-9. doi: 10.1098/rstb.1999.0448.

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Expansion of 50 CAG/CTG repeats excluded in schizophrenia by application of a highly efficient approach using repeat expansion detection and a PCR screening set.通过应用一种使用重复序列扩增检测和PCR筛选试剂盒的高效方法,排除了精神分裂症患者中50个CAG/CTG重复序列的扩增情况。
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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.一个含有三核苷酸重复序列的新基因,该序列在亨廷顿病染色体上呈扩增且不稳定状态。亨廷顿病协作研究组。
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Trinucleotide repeat expansion in neurological disease.神经疾病中的三核苷酸重复序列扩增
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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.鉴定出一个含有CGG重复序列的基因(FMR-1),该基因与脆性X综合征中表现出长度变异的断点簇区域一致。
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Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.强直性肌营养不良的分子基础:编码蛋白激酶家族成员的转录本3'端三核苷酸(CTG)重复序列的扩增。
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由 CAG/聚谷氨酰胺序列扩增引起的遗传性神经退行性疾病:研讨会介绍

Inherited neurodegenerative disorders caused by CAG/polyglutamine tract expansions: symposium introduction.

作者信息

La Spada A R, Clark A W

机构信息

Department of Laboratory Medicine, University of Washington Medical Center, Seattle 98195, USA.

出版信息

Brain Pathol. 1997 Jul;7(3):877-80. doi: 10.1111/j.1750-3639.1997.tb00891.x.

DOI:10.1111/j.1750-3639.1997.tb00891.x
PMID:9217973
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8098368/
Abstract

At the beginning of this decade, the American Association of Neurology decided that the 1990's should be labelled “the decade of the brain” for expected advances in our understanding of neurological disorders and neuroscience. By the end of this decade, clinicians and researchers who work in the field of inherited neurological disorders might well remember the 1990's as “the decade of the trinucleotide repeat”. At the time of writing this introduction, eleven inherited neurological disorders have been found to be caused by expansions of trinucleotide repeats, and a twelfth trinucleotide repeat expansion mutation has been identified (6), although the gene containing this mutant triplet repeat has not been cloned to our knowledge (Table 1).

摘要

在本十年之初,美国神经病学协会决定,鉴于我们有望在神经疾病和神经科学认知方面取得进展,20世纪90年代应被称为“大脑的十年”。到本十年末,从事遗传性神经疾病领域工作的临床医生和研究人员很可能会将20世纪90年代铭记为“三核苷酸重复的十年”。在撰写本引言时,已发现11种遗传性神经疾病是由三核苷酸重复扩增引起的,并且已鉴定出第12种三核苷酸重复扩增突变(6),尽管据我们所知,包含此突变三联体重复的基因尚未被克隆(表1)。