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Article

From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome.

The Journal of investigative dermatology - 1 Mar 2016

García Isaac E, Bosen Felicitas, Mujica Paula, Pupo Amaury, Flores-Muñoz Carolina, Jara Oscar, González Carlos, Willecke Klaus, Martínez Agustín D

Abstract excerpt

The keratitis-ichthyosis-deafness (KID) syndrome is characterized by corneal, skin, and hearing abnormalities. KID has been linked to heterozygous dominant missense mutations in the GJB2 and GJB6 genes, encoding connexin26 and 30, respectively. In vitro evidence indicates that KID mutations lead to hyperactive (open) hemichannels, which in some cases is accompanied by abnormal function of gap junction channels....

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Share to Calcium Channels
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexin 26

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Source

Identifiers

PMID: 26777423
DOI: 10.1016/j.jid.2015.11.017

Genes

GJB2
GJB6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome.PMID 26777423Read ↗

Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome.Semantic proximity Read ↗

The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndromeSemantic proximity Read ↗

The role of connexins in ear and skin physiology - functional insights from disease-associated mutations.Semantic proximity Read ↗

Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation.Semantic proximity Read ↗

Keratitis-ichthyosis-deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia.Semantic proximity Read ↗

The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity.Semantic proximity Read ↗

Roles of aberrant hemichannel activities due to mutant connexin26 in the pathogenesis of KID syndrome.Semantic proximity Read ↗

Connexin channels in congenital skin disorders.Semantic proximity Read ↗

Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings.Semantic proximity Read ↗

A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness SyndromeSemantic proximity Read ↗

The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome.Semantic proximity Read ↗

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.Semantic proximity Read ↗

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