Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Roles of aberrant hemichannel activities due to mutant connexin26 in the pathogenesis of KID syndrome.

Scientific reports - 27 Aug 2018

Taki T, Takeichi T, Sugiura K, Akiyama M

Abstract excerpt

Germline missense mutations in GJB2 encoding connexin (Cx) 26 have been found in keratitis, ichthyosis and deafness (KID) syndrome. We explored the effects of three mouse Cx26 mutants (Cx26-G12R, -G45E and -D50N) corresponding to KID syndrome-causative human mutants on hemichannel activities leading to cell death and the expression of immune response-associated genes. We analyzed the 3D images of cells expressing...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Connexin 26
Share to Deafness
Share to Fluorescent Antibody Technique

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HeLa Cells

Share to Ichthyosis

Share to Intracellular Space

Share to Keratinocytes

Share to Keratitis

Source

Open in PubMed Open full text

Identifiers

PMID: 30150638
DOI: 10.1038/s41598-018-30757-3
PMCID: PMC6110719

Genes

CCL5
GJB2
TLR5

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Roles of aberrant hemichannel activities due to mutant connexin26 in the pathogenesis of KID syndrome.PMID 30150638Read ↗

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

Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness.Semantic proximity Read ↗

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

Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus oocytes.Semantic proximity Read ↗

Pathological hemichannels associated with human Cx26 mutations causing 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 ↗

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

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

Aberrant connexin26 hemichannels underlying keratitis-ichthyosis-deafness syndrome are potently inhibited by mefloquine.Semantic proximity Read ↗

Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43.Semantic proximity Read ↗

Connexin channels in congenital skin disorders.Semantic proximity Read ↗

Allele-Specific Small Interfering RNA Corrects Aberrant Cellular Phenotype in Keratitis-Ichthyosis-Deafness Syndrome Keratinocytes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.