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Article

Connexin43 Mutant Patient-Derived Induced Pluripotent Stem Cells Exhibit Altered Differentiation Potential.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jun 2017

Esseltine Jessica L, Shao Qing, Brooks Courtney, Sampson Jacinda, Betts Dean H, Séguin Cheryle A, Laird Dale W

Abstract excerpt

We present for the first time the generation of induced pluripotent stem cells (iPSCs) from a patient with a connexin-linked disease. The importance of gap junctional intercellular communication in bone homeostasis is exemplified by the autosomal dominant developmental disorder oculodentodigital dysplasia (ODDD), which is linked to mutations in the GJA1 (Cx43) gene. ODDD is characterized by craniofacial...

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Source

Identifiers

PMID: 28177159
DOI: 10.1002/jbmr.3098

Genes

GJA1

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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.

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