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

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

The Journal of investigative dermatology - 1 Apr 2009

Lee Jack R, Derosa Adam M, White Thomas W

Abstract excerpt

Mutations in the GJB2 gene-encoding connexin 26 (Cx26) have been linked to skin disorders and genetic deafness. However, the severity and type of the skin disorders caused by Cx26 mutations are heterogeneous. Here we explored the effect of Cx26 KID syndrome-associated mutations, G12R, S17F, and D...

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 Connexins
Share to Deafness

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gap Junctions

Share to Ichthyosis

Share to Keratitis

Share to Oocytes

Share to Xenopus

Source

Open in PubMed Open full text

Identifiers

PMID: 18987669
DOI: 10.1038/jid.2008.335
PMCID: PMC6463483

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18987669-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus oocytes.PMID 18987669Read ↗

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 ↗

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 ↗

Connexin-26 mutations in deafness and skin disease.Semantic proximity Read ↗

Connexin26 Mutations Causing Palmoplantar Keratoderma and Deafness Interact with Connexin43, Modifying Gap Junction and Hemichannel Properties.Semantic proximity Read ↗

Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation.Semantic proximity Read ↗

Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness.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 ↗

Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix.Semantic proximity Read ↗

Connexin 26 in Hearing Health and Disease: StructuralFoundations, Mutation Mechanisms, and Therapeutic Perspectives.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 ↗

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