Ontology highlight
ABSTRACT:
SUBMITTER: Kaplan FS
PROVIDER: S-EPMC3627400 | biostudies-literature | 2008
REPOSITORIES: biostudies-literature
Kaplan Frederick S FS Groppe Jay J Shore Eileen M EM
Drug discovery today. Therapeutic strategies 20080101 4
A heterozygous missense mutation in activin receptor IA/activin-like kinase-2 (ACVR1/ALK2), a bone morphogenetic protein (BMP) type I receptor, is responsible for fibrodysplasia ossificans progressiva (FOP), the most catastrophic disorder of skeletal metamorphosis in humans. The discovery of the FOP gene establishes a crucial milestone in understanding FOP, reveals a highly conserved target in the BMP signaling pathway for drug development and specifically stimulates therapeutic approaches for t ...[more]