A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis (Q58859866)

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12 January 2020

title

A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis (English)

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erythrokeratodermia variabilis

12 January 2020

main subject

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12 January 2020

Morley SM

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12 January 2020

White MI

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12 January 2020

Rogers M

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12 January 2020

Wasserman D

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12 January 2020

Ratajczak P

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12 January 2020

Richard G

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language of work or name

English

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publication date

1 June 2005

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British Journal of Dermatology

12 January 2020

published in

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12 January 2020

volume

152

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issue

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12 January 2020

page(s)

1143-1148

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Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations

12 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06610.X

A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06610.X

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06610.X

Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06610.X

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06610.X

Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06610.X

A case of erythrokeratoderma variabilis without mutations in connexin 31.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06610.X

The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06610.X

Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06610.X

Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06610.X

Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06610.X

Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06610.X

Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06610.X

Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06610.X

10.1111/J.1365-2133.2005.06610.X

21 January 2018

Identifiers

DOI

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12 January 2020

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