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Article

Functional domain mapping and selective trans-dominant effects exhibited by Cx26 disease-causing mutations.

The Journal of biological chemistry - 30 Apr 2004

Thomas Tamsin, Telford Debra, Laird Dale W

Abstract excerpt

Mutations in Cx26 are a major cause of autosomal dominant and recessive forms of sensorineural deafness. Some mutations in Cx26 are associated not only with deafness but also with skin disease. We examined the subcellular localization and function of two green fluorescent protein (GFP)-tagged Cx26 point mutants that exhibit both phenotypes, G59A-GFP and D66H-GFP. D66H-GFP was retained within the brefeldin...

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Identifiers

PMID: 14978038
DOI: 10.1074/jbc.M314117200

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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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