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Article

The Functional Role of CONNEXIN 26 Mutation in Nonsyndromic Hearing Loss, Demonstrated by Zebrafish Connexin 30.3 Homologue Model.

Cells - 22 May 2020

Su Hsuan-An, Lai Ting-Wei, Li Shuan-Yow, Su Tzu-Rong, Yang Jiann-Jou, Su Ching-Chyuan

Abstract excerpt

Nonsyndromic hearing loss (NSHL) is of great clinical importance, and mutations in the GJB2 gene and the encoded human CONNEXIN 26 (CX26) protein play important roles in the genetic pathogenesis. The CX26 p.R184Q mutation was shown to be a dominant-negative effect in our previous study. Previously, we also demonstrated that zebrafish Cx30.3 is orthologous to human CX26. In the present study, we established...

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Identifiers

PMID: 32455934
DOI: 10.3390/cells9051291
PMCID: PMC7290585

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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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The Functional Role of CONNEXIN 26 Mutation in Nonsyndromic Hearing Loss, Demonstrated by Zebrafish Connexin 30.3 Homologue Model.PMID 32455934Read ↗

The connexin 30.3 of zebrafish homologue of human connexin 26 may play similar role in the inner ear.Semantic proximity Read ↗

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