CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 (Q28235526)

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27 October 2019

title

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

1 reference

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27 October 2019

main subject

Machado-Joseph disease

1 reference

7

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27 October 2019

author name string

Y Kawaguchi

1

1 reference

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27 October 2019

T Okamoto

2

1 reference

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27 October 2019

M Taniwaki

3

1 reference

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27 October 2019

M Aizawa

4

1 reference

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27 October 2019

M Inoue

5

1 reference

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27 October 2019

S Katayama

6

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27 October 2019

S Nakamura

8

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27 October 2019

M Nishimura

9

1 reference

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27 October 2019

I Akiguchi

10

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27 October 2019

language of work or name

English

0 references

publication date

1 November 1994

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27 October 2019

1 reference

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27 October 2019

volume

8

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27 October 2019

issue

3

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27 October 2019

page(s)

221-228

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Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

27 October 2019

cites work

1 reference

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

21 April 2017

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Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

21 April 2017

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The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

21 April 2017

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Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

21 April 2017

1 reference

The gene for Machado-Joseph disease maps to human chromosome 14q

21 April 2017

1 reference

Chromosomal translocation t(15;17) in human acute promyelocytic leukemia fuses RARα with a novel putative transcription factor, PML

21 April 2017

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Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

21 April 2017

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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.

21 January 2018

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Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

21 January 2018

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Cloning of the essential myotonic dystrophy region and mapping of the putative defect

21 January 2018

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

21 January 2018

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Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

21 January 2018

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Trinucleotide repeat length instability and age of onset in Huntington's disease

21 January 2018

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Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

21 January 2018

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Machado disease: A hereditary ataxia in Portuguese emigrants to Massachusetts

21 January 2018

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Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues

21 January 2018

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Characterization of two marker chromosomes in a patient with acute nonlymphocytic leukemia by two-color fluorescence in situ hybridization

21 January 2018

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Structure and physical map of 64 variable segments in the 3'0.8-megabase region of the human immunoglobulin heavy-chain locus

21 January 2018

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I kappa B gamma, a 70 kd protein identical to the C-terminal half of p110 NF-kappa B: a new member of the I kappa B family

21 January 2018

1 reference

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Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy

21 January 2018

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7 January 2021

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

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7 January 2021

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

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7 January 2021

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

1 reference

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7 January 2021

Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorena Portuguese family

1 reference

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7 January 2021

Presumably Azorean disease in a presumably non-Portuguese family

1 reference

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7 January 2021

Joseph disease in a non-Portuguese family

1 reference

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7 January 2021

Machado-Joseph-Azorean disease in India

1 reference

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7 January 2021

Machado-Joseph disease in a Sicilian-American family.

1 reference

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7 January 2021

The natural history of Machado-Joseph disease. An analysis of 138 personally examined cases.

1 reference

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7 January 2021

Machado-Joseph disease: an autosomal dominant motor system degeneration

1 reference

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7 January 2021

A mouse cdc25 homolog is differentially and developmentally expressed

1 reference

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7 January 2021

Identifiers

DOI

10.1038/NG1194-221

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7874163%20AND%20SRC:MED&resulttype=core&format=json

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27 October 2019

Fatcat ID

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Fatcat

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24 November 2022

mapped directly with Wikidata item

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Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017