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

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Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.Disorders of Keratinization

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

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http://www.wikidata.org/entity/Q58859866

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im Juni 2005 veröffentlichter wissenschaftlicher Artikel

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scientific article published on 01 June 2005

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wetenschappelijk artikel

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наукова стаття, опублікована в червні 2005

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

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

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

@en

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

@nl

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

@en

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

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P1476

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

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P2093

Morley SM

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Ratajczak P

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Richard G

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Rogers M

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Wasserman D

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White MI

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P2860

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

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

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

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

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

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

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

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

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

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

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1143-1148

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scholarly article

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10.1111/J.1365-2133.2005.06610.X

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English

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152

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Irwin McLean

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2005-06-01T00:00:00Z

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15948974

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

about

P2860

P2860

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

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698