Article
ALK2 R206H mutation linked to fibrodysplasia ossificans progressiva confers constitutive activity to the BMP type I receptor and sensitizes mesenchymal cells to BMP-induced osteoblast differentiation and bone formation.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jun 2010
van Dinther Maarten, Visser Nils, de Gorter David J J, Doorn Joyce, Goumans Marie-José, de Boer Jan, ten Dijke Peter
Abstract excerpt
Fibrodysplasia ossificans progressiva (FOP) is a rare disabling disease characterized by heterotopic ossification for which there is currently no treatment available. FOP has been linked recently to a heterozygous R206H mutation in the bone morphogenetic protein (BMP) type I receptor activin rece...
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