Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome (Q35764888)

10 August 2017

0 references

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome (English)

1 reference

10 August 2017

1 reference

1 reference

Colin E Willoughby

0 references

Ethylin Wang Jabs

0 references

Jouni Uitto

1 reference

10 August 2017

Gabriele Richard

1 reference

10 August 2017

Fatima Rouan

1 reference

10 August 2017

Nkecha Brown

1 reference

10 August 2017

Pil Chung

1 reference

10 August 2017

Markku Ryynänen

1 reference

10 August 2017

Sherri J Bale

1 reference

10 August 2017

John J DiGiovanna

1 reference

10 August 2017

Laura Russell

1 reference

10 August 2017

language of work or name

English

0 references

publication date

22 March 2002

1 reference

American Journal of Human Genetics

10 August 2017

published in

1 reference

10 August 2017

1 reference

10 August 2017

1 reference

10 August 2017

page(s)

1341-1348

1 reference

Connexin disorders of the skin.

10 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

Regeneration of rabbit cornea following excimer laser photorefractive keratectomy: a study on gap junctions, epithelial junctions and epidermal growth factor receptor expression in correlation with cell proliferation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

Connexin mutations in skin disease and hearing loss

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

Mutations in GJB6 cause hidrotic ectodermal dysplasia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

Gap junctions in cells of the immune system: structure, regulation and possible functional roles

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

Cell-free synthesis and assembly of connexins into functional gap junction membrane channels

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

Differential regulation of gap junctions by proinflammatory mediators in vitro

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

Multiple connexin proteins in single intercellular channels: connexin compatibility and functional consequences

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

Negative growth control of HeLa cells by connexin genes: connexin species specificity.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

Molecular analysis of voltage dependence of heterotypic gap junctions formed by connexins 26 and 32

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

Structure of the amino terminus of a gap junction protein

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

Keratitis, ichthyosis, and deafness (KID) syndrome in half sibs

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

Stem cells of the corneal epithelium lack connexins and metabolite transfer capacity

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

Opposite voltage gating polarities of two closely related connexins

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

Familial occurrence of KID (keratitis, ichthyosis, deafness) syndrome. Case reports of a mother and daughter

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

Auditory manifestations of Keratitis-Ichthyosis-Deafness (KID) syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447609

Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness

25 September 2018

1 reference

12 December 2020

[A rare oculo-auriculo-cutaneous syndrome (Burns' syndrome)]

1 reference

12 December 2020

Keratitis, ichthyosis, and deafness (KID) syndrome. Vertical transmission and death from multiple squamous cell carcinomas

1 reference

12 December 2020

The KID-syndrome in Finland. A report of four cases

1 reference

12 December 2020

Aberrant expression of gap junction proteins (connexins) is associated with tumor progression during multistage mouse skin carcinogenesis in vivo

1 reference

12 December 2020

Perturbation in connexin 43 and connexin 26 gap-junction expression in mouse skin hyperplasia and neoplasia

1 reference

12 December 2020

Isoform composition of connexin channels determines selectivity among second messengers and uncharged molecules

1 reference

12 December 2020

Identifiers

DOI

10.1086/339986

1 reference

release_q65yiz4upzeghlc6qkkk2icefa

10 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/q65yiz4upzeghlc6qkkk2icefa

24 November 2022

mapped directly with Wikidata item

PMC publication ID

447609

1 reference

10 August 2017

1 reference