Literature DB >> 9106546

Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado-Joseph disease patients.

P Maciel, I Lopes-Cendes, S Kish, J Sequeiros, G A Rouleau.   

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Year:  1997        PMID： 9106546      PMCID： PMC1712490     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  22 in total

1.  CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.

Authors:  Y Kawaguchi; T Okamoto; M Taniwaki; M Aizawa; M Inoue; S Katayama; H Kawakami; S Nakamura; M Nishimura; I Akiguchi
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330

2.  Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias.

Authors:  Y Trottier; Y Lutz; G Stevanin; G Imbert; D Devys; G Cancel; F Saudou; C Weber; G David; L Tora
Journal:  Nature       Date:  1995-11-23       Impact factor: 49.962

3.  Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals.

Authors:  A Servadio; B Koshy; D Armstrong; B Antalffy; H T Orr; H Y Zoghbi
Journal:  Nat Genet       Date:  1995-05       Impact factor: 38.330

4.  Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

Authors:  M Y Chung; L P Ranum; L A Duvick; A Servadio; H Y Zoghbi; H T Orr
Journal:  Nat Genet       Date:  1993-11       Impact factor: 38.330

5.  Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

Authors:  H T Orr; M Y Chung; S Banfi; T J Kwiatkowski; A Servadio; A L Beaudet; A E McCall; L A Duvick; L P Ranum; H Y Zoghbi
Journal:  Nat Genet       Date:  1993-07       Impact factor: 38.330

6.  Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

Authors:  H Telenius; B Kremer; Y P Goldberg; J Theilmann; S E Andrew; J Zeisler; S Adam; C Greenberg; E J Ives; L A Clarke
Journal:  Nat Genet       Date:  1994-04       Impact factor: 38.330

7.  Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1.

Authors:  S S Chong; A E McCall; J Cota; S H Subramony; H T Orr; M R Hughes; H Y Zoghbi
Journal:  Nat Genet       Date:  1995-07       Impact factor: 38.330

8.  Identification and characterization of the gene causing type 1 spinocerebellar ataxia.

Authors:  S Banfi; A Servadio; M Y Chung; T J Kwiatkowski; A E McCall; L A Duvick; Y Shen; E J Roth; H T Orr; H Y Zoghbi
Journal:  Nat Genet       Date:  1994-08       Impact factor: 38.330

9.  Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA).

Authors:  S Ueno; K Kondoh; Y Kotani; O Komure; S Kuno; J Kawai; F Hazama; A Sano
Journal:  Hum Mol Genet       Date:  1995-04       Impact factor: 6.150

10.  Structural and immunocytochemical features of olivopontocerebellar atrophy caused by the spinocerebellar ataxia type 1 (SCA-1) mutation define a unique phenotype.

Authors:  Y Robitaille; L Schut; S J Kish
Journal:  Acta Neuropathol       Date:  1995       Impact factor: 17.088
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  8 in total

1.  Chemically induced increases and decreases in the rate of expansion of a CAG*CTG triplet repeat.

Authors:  Mário Gomes-Pereira; Darren G Monckton
Journal:  Nucleic Acids Res       Date:  2004-05-20       Impact factor: 16.971

Review 2.  Toward understanding Machado-Joseph disease.

Authors:  Maria do Carmo Costa; Henry L Paulson
Journal:  Prog Neurobiol       Date:  2011-11-23       Impact factor: 11.685

Review 3.  Machado-Joseph disease/spinocerebellar ataxia type 3.

Authors:  Henry Paulson
Journal:  Handb Clin Neurol       Date:  2012

4.  Tissue-specific somatic mosaicism in spinal and bulbar muscular atrophy is dependent on CAG-repeat length and androgen receptor--gene expression level.

Authors:  F Tanaka; M F Reeves; Y Ito; M Matsumoto; M Li; S Miwa; A Inukai; M Yamamoto; M Doyu; M Yoshida; Y Hashizume; S Terao; T Mitsuma; G Sobue
Journal:  Am J Hum Genet       Date:  1999-10       Impact factor: 11.025

5.  Correlation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC content.

Authors:  Colm E Nestor; Darren G Monckton
Journal:  PLoS One       Date:  2011-12-06       Impact factor: 3.240

6.  CAG*CTG repeat instability in cultured human astrocytes.

Authors:  Brian T Farrell; Robert S Lahue
Journal:  Nucleic Acids Res       Date:  2006-08-31       Impact factor: 16.971

Review 7.  What is the Pathogenic CAG Expansion Length in Huntington's Disease?

Authors:  Jasmine Donaldson; Sophie Powell; Nadia Rickards; Peter Holmans; Lesley Jones
Journal:  J Huntingtons Dis       Date:  2021

Review 8.  The Contribution of Somatic Expansion of the CAG Repeat to Symptomatic Development in Huntington's Disease: A Historical Perspective.

Authors:  Darren G Monckton
Journal:  J Huntingtons Dis       Date:  2021
  8 in total

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