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Article

Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia.

The Journal of biological chemistry - 29 Jun 2007

Gong Xiang-Qun, Shao Qing, Langlois Stéphanie, Bai Donglin, Laird Dale W

Abstract excerpt

Oculodentodigital dysplasia (ODDD) is a congenital autosomal dominant disorder with phenotypic variability, which has been associated with mutations in the GJA1 gene encoding connexin43 (Cx43). Given that Cx43 mutants are thought to be equally co-expressed with wild-type Cx43 in ODDD patients, it is imperative to examine the consequence of these mutants in model systems that reflect this molar ratio. To that end,...

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Identifiers

PMID: 17420259
DOI: 10.1074/jbc.M609653200

Genes

GJA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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