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Article

Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.

Cell communication & adhesion - 1 Jan 2000

McLachlan Elizabeth, Manias Janet L, Gong Xiang-Qun, Lounsbury Crystal S, Shao Qing, Bernier Suzanne M, Bai Donglin, Laird Dale W

Abstract excerpt

Oculodentodigital dysplasia (ODDD) is associated with at least 28 connexin43 (Cx43) mutations. We characterized four of these mutants; Q49K, L90V, R202H, and V216L. Populations of these GFP-tagged mutants were transported to the cell surface in Cx43-negative HeLa cells and Cx43-positive NRK cells. Dual patch-clamp functional analysis in N2A cells demonstrated that channels formed by each mutant have dramatically...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 16531323
DOI: 10.1080/15419060500514143

Genes

NRK

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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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