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Article

Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia.

Molecular biology of the cell - 1 Sept 2012

Shao Qing, Liu Qin, Lorentz Robert, Gong Xiang-Qun, Bai Donglin, Shaw Gary S, Laird Dale W

Abstract excerpt

Mutations in the gene encoding connexin-43 (Cx43) cause the human development disorder known as oculodentodigital dysplasia (ODDD). In this study, ODDD-linked Cx43 N-terminal mutants formed nonfunctional gap junction-like plaques and exhibited dominant-negative effects on the coupling conductance of coexpressed endogenous Cx43 in reference cell models. Nuclear magnetic resonance (NMR) protein structure...

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Identifiers

PMID: 22809623
DOI: 10.1091/mbc.E12-02-0128
PMCID: PMC3431933

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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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