Ontology highlight
ABSTRACT:
SUBMITTER: Le VQ
PROVIDER: S-EPMC3454517 | biostudies-literature | 2012 Jan
REPOSITORIES: biostudies-literature
Le Viet Q VQ Wharton Kristi A KA
Developmental dynamics : an official publication of the American Association of Anatomists 20120101 1
<h4>Background</h4>Fibrodysplasia Ossificans Progressiva (FOP) is an autosomal dominant disorder characterized by episodic deposition of heterotopic bone in place of soft connective tissue. All FOP-associated mutations map to the BMP type I receptor, ALK2, with the ALK2(R206H) mutant form found in the vast majority of patients. The mechanism(s) regulating the expressivity of hyperactive ALK2(R206H) signaling throughout a patient's life is not well understood.<h4>Results</h4>In Drosophila, human ...[more]