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Article

The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.

Human genetics - 1 Mar 2016

Kim Hui Ram, Oh Se-Kyung, Lee Eun-Shil, Choi Soo-Young, Roh Seung-Eon, Kim Sang Jeong, Tsukihara Tomitake, Lee Kyu-Yup, Jeon Chang-Jin, Kim Un-Kyung

Abstract excerpt

Gap junctions (GJs) are intercellular channels associated with cell-cell communication. Connexin 26 (Cx26) encoded by the GJB2 gene forms GJs of the inner ear, and mutations of GJB2 cause congenital hearing loss that can be syndromic or non-syndromic. It is difficult to predict pathogenic effects using only genetic analysis. Using ionic and biochemical coupling tests, we evaluated the pathogenic effects of Cx26...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26749107
DOI: 10.1007/s00439-015-1625-7

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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