Ontology highlight
ABSTRACT:
SUBMITTER: Matsumoto Y
PROVIDER: S-EPMC3892046 | biostudies-literature | 2013 Dec
REPOSITORIES: biostudies-literature
Matsumoto Yoshihisa Y Hayashi Yohei Y Schlieve Christopher R CR Ikeya Makoto M Kim Hannah H Nguyen Trieu D TD Sami Salma S Baba Shiro S Barruet Emilie E Nasu Akira A Asaka Isao I Otsuka Takanobu T Yamanaka Shinya S Conklin Bruce R BR Toguchida Junya J Hsiao Edward C EC
Orphanet journal of rare diseases 20131209
<h4>Background</h4>Abnormal activation of endochondral bone formation in soft tissues causes significant medical diseases associated with disability and pain. Hyperactive mutations in the bone morphogenetic protein (BMP) type 1 receptor ACVR1 lead to fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterized by progressive ossification in soft tissues. However, the specific cellular mechanisms are unclear. In addition, the difficulty obtaining tissue samples from FOP pati ...[more]