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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...

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Source

Identifiers

PMID: 17420259
DOI: 10.1074/jbc.M609653200

Genes

GJA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17420259-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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