Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43.

The Journal of biological chemistry - 25 Mar 2005

Roscoe Wendi, Veitch Gregory I L, Gong Xiang-Qun, Pellegrino Emily, Bai Donglin, McLachlan Elizabeth, Shao Qing, Kidder Gerald M, Laird Dale W

Abstract excerpt

Oculodentodigital dysplasia, a rare condition displaying congenital craniofacial deformities and limb abnormalities, has been associated with over 20 known human connexin43 (Cx43) mutations. The localization of two of these mutants, G21R and G138R, was examined in Cx43-positive normal rat kidney cells (NRK) and Cx43-negative gap junctional intercellular communication-deficient HeLa cells. Green fluorescent...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Cell Communication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexin 43

Share to Craniofacial Abnormalities

Share to Gap Junctions

Share to NRK gene

Share to Limb Deformities, Congenital

Share to Mutation

Source

Identifiers

PMID: 15644317
DOI: 10.1074/jbc.M409564200

Genes

NRK

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43.PMID 15644317Read ↗

Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.Semantic proximity Read ↗

Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia.Semantic proximity Read ↗

Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia.Semantic proximity Read ↗

Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.Semantic proximity Read ↗

Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cellsSemantic proximity Read ↗

Syndromic and non-syndromic disease-linked Cx43 mutations.Semantic proximity Read ↗

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.Semantic proximity Read ↗

Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia.Semantic proximity Read ↗

Connexins and Disease.Semantic proximity Read ↗

Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease.Semantic proximity Read ↗

The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans.Semantic proximity Read ↗

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.