Ontology highlight
ABSTRACT:
SUBMITTER: Song H
PROVIDER: S-EPMC3292007 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
International journal of molecular sciences 20120215 2
Fibrodysplasia ossificans progressiva (FOP) is a rare congenital disorder of skeletal malformations and progressive extraskeletal ossification. There is still no effective treatment for FOP. All FOP individuals harbor conserved point mutations in ACVR1 gene that are thought to cause ACVR1 constitutive activation and activate BMP signal pathway. The constitutively active ACVR1 is also found to be able to cause endothelial-to-mesenchymal transition (EndMT) in endothelial cells, which may cause the ...[more]