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Article

Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and mice.

PloS one - 1 Jan 2014

Lu Ying-Chang, Wu Chen-Chi, Yang Ting-Hua, Lin Yin-Hung, Yu I-Shing, Lin Shu-Wha, Chang Qing, Lin Xi, Wong Jau-Min, Hsu Chuan-Jen

Abstract excerpt

Mutations in the SLC26A4 gene are a common cause of human hereditary hearing impairment worldwide. Previous studies have demonstrated that different SLC26A4 mutations have different pathogenetic mechanisms. By using a genotype-driven approach, we established a knock-in mouse model (i.e., Slc26a4(tm2Dontuh/tm2Dontuh) mice) homozygous for the common p.H723R mutation in the East Asian population. To verify the...

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Identifiers

PMID: 23755160
DOI: 10.1371/journal.pone.0064906
PMCID: PMC3670936

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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.

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