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

Mutant connexin 50 (S276F) inhibits channel and hemichannel functions inducing cataract.

Journal of genetics - 1 Jun 2015

Liu Yuanyuan, Qiao Chen, Wei Tanwei, Zheng Fang, Guo Shuren, Chen Qiang, Yan Ming, Zhou Xin

Abstract excerpt

This study was designed to detect the expression, detergent resistance, subcellular localization, and channel and hemichannel functions of mutant Cx50 to understand the forming mechanism for inducing congenital cataract by a novel mutation p.S276F in connexin 50 (Cx50) reported previously by us. HeLa and human lens epithelial (HLE) cells were transfected with wild-type Cx50 and mutant Cx50 (S276F). We examined...

Read the complete abstract on PubMed

Topics

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

Share to Cataract
Share to Coloring Agents
Share to Connexins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Detergents

Share to Gap Junctions

Share to Lens, Crystalline

Share to Mutant Proteins

Share to Subcellular Fractions

Source

Identifiers

PMID: 26174669
DOI: 10.1007/s12041-015-0506-0

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

Mutant connexin 50 (S276F) inhibits channel and hemichannel functions inducing cataract.PMID 26174669Read ↗

Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.Semantic proximity Read ↗

A novel GJA8 mutation (p.V44A) causing autosomal dominant congenital cataract.Semantic proximity Read ↗

Cataract-linked serine mutations in the gap junction protein connexin50 expose a sorting signal that promotes its lysosomal degradation.Semantic proximity Read ↗

The cataract-inducing S50P mutation in Cx50 dominantly alters the channel gating of wild-type lens connexins.Semantic proximity Read ↗

Molecular mechanisms underlying enhanced hemichannel function of a cataract-associated Cx50 mutantSemantic proximity Read ↗

Identification of GJA3 p.S50P Mutation in a Chinese Family with Autosomal Dominant Congenital Cataract and Its Underlying Pathogenesis.Semantic proximity Read ↗

The cataract causing Cx50-S50P mutant inhibits Cx43 and intercellular communication in the lens epithelium.Semantic proximity Read ↗

A Missense Mutation in GJA8 Encoding Connexin 50 in a Chinese Pedigree with Autosomal Dominant Congenital Cataract.Semantic proximity Read ↗

Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50.Semantic proximity Read ↗

Focus on lens connexins.Semantic proximity Read ↗

Development of a potent embryonic chick lens model for studying congenital cataracts in vivo.Semantic proximity Read ↗

Connexin mutation that causes dominant congenital cataracts inhibits gap junctions, but not hemichannels, in a dominant negative manner.Semantic proximity Read ↗

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