Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy (Q24308826)

GOA release 2020-03-11

muscle contraction

1 reference

oculopharyngeal muscular dystrophy

GOA release 2020-03-11

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2

J P Bouchard

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Bernard Brais

1

B Brais

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Jean Mathieu

14

J Mathieu

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Amos D. Korczyn

12

A D Korczyn

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Guy A. Rouleau

18

G A Rouleau

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author name string

Y G Xie

3

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D L Rochefort

4

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N Chrétien

5

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F M Tomé

6

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R G Lafrenière

7

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J M Rommens

8

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E Uyama

9

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O Nohira

10

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S Blumen

11

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P Heutink

13

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A Duranceau

15

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F Codère

16

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M Fardeau

17

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A D Korcyn

Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families

19

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language of work or name

English

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publication date

February 1998

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published in

Nature Genetics

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volume

18

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issue

2

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page(s)

164-7

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cites work

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Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

20 April 2017

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Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13

20 April 2017

1 reference

Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation

20 April 2017

1 reference

Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures

20 April 2017

1 reference

Immunodetection of poly(A) binding protein II in the cell nucleus

20 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-164

A novel poly(A)-binding protein acts as a specificity factor in the second phase of messenger RNA polyadenylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-164

Dynamic mutations: a new class of mutations causing human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-164

Molecular basis of genetic instability of triplet repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-164

Formation of an extremely stable polyalanine beta-sheet macromolecule

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-164

Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-164

Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-164

High efficiency vectors for cosmid microcloning and genomic analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-164

Clinical features of oculopharyngeal muscular dystrophy among Bukhara Jews

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-164

Nuclear inclusions in oculopharyngeal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-164

7 January 2021

Isolation of genomic and cDNA clones encoding bovine poly(A) binding protein II.

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-164

7 January 2021

Assembly of a processive messenger RNA polyadenylation complex

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-164

7 January 2021

The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-164

7 January 2021

DNA triplet repeats and neurologic disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-164

7 January 2021

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-164

7 January 2021

Human genetic diseases due to codon reiteration: relationship to an evolutionary mechanism

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-164

7 January 2021

Human genes containing polymorphic trinucleotide repeats

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-164

7 January 2021

Molecular orientation and two-component nature of the crystalline fraction of spider dragline silk.

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-164

7 January 2021

Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3.

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-164

7 January 2021

Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-164

7 January 2021

Identifiers

DOI

10.1038/NG0298-164

1 reference

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

1029399242

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Fatcat ID

release_migitzr435br5jhjwkuyjmgnty

0 references

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

9462747

1 reference

Consolidated OpenCitations Corpus – April 2017