Article
ODDD-linked Cx43 mutants reduce endogenous Cx43 expression and function in osteoblasts and inhibit late stage differentiation.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jun 2008
McLachlan Elizabeth, Plante Isabelle, Shao Qing, Tong Dan, Kidder Gerald M, Bernier Suzanne M, Laird Dale W
Abstract excerpt
INTRODUCTION: Bone development and modeling requires precise gap junctional intercellular communication (GJIC). Oculodentodigital dysplasia (ODDD) is an autosomal dominant human disease caused by mutations in the gene (GJA1) encoding the gap junction protein, connexin43 (Cx43). The disease is characterized by craniofacial bone deformities and limb abnormalities. It is our hypothesis that Cx43 mutation causes...
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