Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis (Q22008478)

GOA release 2020-03-11

epidermis development

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erythrokeratodermia variabilis

GOA release 2020-03-11

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G Richard

1

Gabriele

Richard

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6 February 2023

L E Smith

2

Lisa E.

Smith

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6 February 2023

R A Bailey

3

Regina A.

Bailey

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6 February 2023

P Itin

4

Peter

Itin

1 reference

6 February 2023

D Hohl

5

Daniel

Hohl

1 reference

6 February 2023

E H Epstein

6

Ervin H.

Epstein

1 reference

6 February 2023

J J DiGiovanna

7

John J.

DiGiovanna

1 reference

6 February 2023

J G Compton

8

John G.

Compton

1 reference

6 February 2023

S J Bale

9

Sherri J.

Bale.

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Further evidence for localization of the gene of erythrokeratodermia variabilis

6 February 2023

language of work or name

English

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publication date

December 1998

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published in

Nature Genetics

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volume

20

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issue

4

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page(s)

366-9

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cites work

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

21 January 2018

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Connections with connexins: the molecular basis of direct intercellular signaling

21 January 2018

1 reference

Connexins, connexons, and intercellular communication

21 January 2018

1 reference

Expression of gap junction proteins Cx26, Cx31.1, Cx37, and Cx43 in developing and mature rat epidermis

21 January 2018

1 reference

Switch in gap junction protein expression is associated with selective changes in junctional permeability during keratinocyte differentiation

21 January 2018

1 reference

In vivo modulation of connexins 43 and 26 of human epidermis by topical retinoic acid treatment

21 January 2018

1 reference

Molecular cloning and functional expression of human connexin37, an endothelial cell gap junction protein

21 January 2018

1 reference

Structure of gap junction intercellular channels

21 January 2018

1 reference

Connexin mutations in X-linked Charcot-Marie-Tooth disease

21 January 2018

1 reference

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

1 reference

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q

21 January 2018

1 reference

Opposite voltage gating polarities of two closely related connexins

21 January 2018

1 reference

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene

21 January 2018

1 reference

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

21 January 2018

1 reference

Identification of a proline residue as a transduction element involved in voltage gating of gap junctions

21 January 2018

1 reference

The human gene mutation database

21 January 2018

1 reference

Genetic linkage between erythrokeratodermia variabilis and Rh locus

21 January 2018

1 reference

7 January 2021

Gap-junctional protein connexin 43 is expressed in dermis and epidermis of human skin: differential modulation by retinoids

1 reference

7 January 2021

Differential regulation of connexin43 and connexin37 in endothelial cells by cell density, growth, and TGF-beta1

1 reference

7 January 2021

Altered trafficking of mutant connexin32

1 reference

7 January 2021

Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs

1 reference

7 January 2021