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Different origins of mutations at the Machado-Joseph locus (MJD1).

作者信息

Iughetti P, Zatz M, Bueno M R, Marie S K

出版信息

J Med Genet. 1996 May;33(5):439. doi: 10.1136/jmg.33.5.439.

DOI:10.1136/jmg.33.5.439
PMID:8733063
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050622/
Abstract
摘要

相似文献

1
Different origins of mutations at the Machado-Joseph locus (MJD1).马查多-约瑟夫病基因座（MJD1）突变的不同起源
J Med Genet. 1996 May;33(5):439. doi: 10.1136/jmg.33.5.439.
2
Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease.对四个患有马查多-约瑟夫病的葡萄牙裔巴西家庭中MJD1基因不稳定的扩展CAG重复序列的特征分析。
J Med Genet. 1995 Oct;32(10):827-30. doi: 10.1136/jmg.32.10.827.
3
Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins.
Hum Genet. 1996 Nov;98(5):620-4. doi: 10.1007/s004390050270.
4
[Recent advances in molecular genetics of spinocerebellar ataxia type 3/Machado-Joseph disease].[3型脊髓小脑共济失调/马查多-约瑟夫病的分子遗传学最新进展]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Dec;25(6):660-2.
5
Gender equality in Machado-Joseph disease.马查多-约瑟夫病中的性别平等。
Nat Genet. 1995 Oct;11(2):118-9. doi: 10.1038/ng1095-118a.
6
A small 55-repeat MJD1 CAG allele in a patient with Machado-Joseph disease and abnormal eye movements.
Eur Neurol. 2000;44(3):189-90. doi: 10.1159/000008218.
7
Molecular analyses of Machado-Joseph disease.马查多-约瑟夫病的分子分析
Cytogenet Genome Res. 2003;100(1-4):261-75. doi: 10.1159/000072862.
8
Overexpression of the autophagic beclin-1 protein clears mutant ataxin-3 and alleviates Machado-Joseph disease.自噬相关蛋白 beclin-1 的过表达可以清除突变型 ataxin-3，从而缓解 Machado-Joseph 病。
Brain. 2011 May;134(Pt 5):1400-15. doi: 10.1093/brain/awr047. Epub 2011 Apr 7.
9
Machado-Joseph disease gene products carrying different carboxyl termini.携带不同羧基末端的马查多-约瑟夫病基因产物。
Neurosci Res. 1997 Aug;28(4):373-7. doi: 10.1016/s0168-0102(97)00056-4.
10
Regional and cellular expression of the Machado-Joseph disease gene in brains of normal and affected individuals.Machado-Joseph病基因在正常个体和患病个体大脑中的区域及细胞表达。
Ann Neurol. 1996 Nov;40(5):776-81. doi: 10.1002/ana.410400514.

引用本文的文献

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SCA3: neurological features, pathogenesis and animal models.脊髓小脑共济失调3型：神经学特征、发病机制及动物模型
Cerebellum. 2008;7(2):125-37. doi: 10.1007/s12311-008-0013-4.
2
Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.导致家族性克雅氏病的PRNP 200K突变的祖先起源及全球分布
Am J Hum Genet. 1999 Apr;64(4):1063-70. doi: 10.1086/302340.
3
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.
4
Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon.脊髓小脑性共济失调3型/马查多-约瑟夫病突变与两个基因内多态性之间的连锁不平衡，其中一个多态性X359Y影响终止密码子。
Am J Hum Genet. 1997 Jun;60(6):1548-52. doi: 10.1016/S0002-9297(07)64251-7.

本文引用的文献

1
Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease.Machado-Joseph病日本和白种人受试者中，MJD1基因CAG重复序列的代际不稳定性及侧翼标记保守单倍型的证据。
Hum Mol Genet. 1995 Jul;4(7):1137-46. doi: 10.1093/hmg/4.7.1137.
2
The gene for Machado-Joseph disease maps to human chromosome 14q.马查多-约瑟夫病基因定位于人类14号染色体长臂。
Nat Genet. 1993 Jul;4(3):300-4. doi: 10.1038/ng0793-300.
3
A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.常染色体显性遗传性I型小脑共济失调的第三个基因座定位于14号染色体q24.3 - qter：存在第四个基因座的证据。
Am J Hum Genet. 1994 Jan;54(1):11-20.
4
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.14号染色体长臂32.1区马查多-约瑟夫病新基因中的CAG重复序列扩增。
Nat Genet. 1994 Nov;8(3):221-8. doi: 10.1038/ng1194-221.
5
The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2.脊髓小脑共济失调3型（SCA3）基因位于14号染色体q24.3 - q32.2上大约3厘摩的区域。
Am J Hum Genet. 1995 Jan;56(1):193-201.
6
Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients.MJD1基因内的三核苷酸重复在临床上表现为脊髓小脑共济失调，在德国脊髓小脑共济失调患者中最为常见。
Hum Mol Genet. 1995 Jun;4(6):1001-5. doi: 10.1093/hmg/4.6.1001.
7
Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease.马查多-约瑟夫病的CAG重复序列的分子特征及临床表现
Hum Mol Genet. 1995 May;4(5):807-12. doi: 10.1093/hmg/4.5.807.
8
Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease.3型脊髓小脑共济失调与马查多-约瑟夫病的分子与临床关联
Ann Neurol. 1995 Jul;38(1):68-72. doi: 10.1002/ana.410380113.
9
Correlation between CAG repeat length and clinical features in Machado-Joseph disease.马查多-约瑟夫病中CAG重复序列长度与临床特征的相关性
Am J Hum Genet. 1995 Jul;57(1):54-61.
10
Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus.与脊髓小脑共济失调3型/马查多-约瑟夫病基因座处CAG重复序列扩增相关的显著表型异质性。
Am J Hum Genet. 1995 Oct;57(4):809-16.