Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: Makoto Ikeya
PROVIDER: E-GEOD-62783 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Hino Kyosuke K Ikeya Makoto M Horigome Kazuhiko K Matsumoto Yoshihisa Y Ebise Hayao H Nishio Megumi M Sekiguchi Kazuya K Shibata Mitsuaki M Nagata Sanae S Matsuda Shuichi S Toguchida Junya J
Proceedings of the National Academy of Sciences of the United States of America 20151130 50
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by extraskeletal bone formation through endochondral ossification. FOP patients harbor point mutations in ACVR1 (also known as ALK2), a type I receptor for bone morphogenetic protein (BMP). Two mechanisms of mutated ACVR1 (FOP-ACVR1) have been proposed: ligand-independent constitutive activity and ligand-dependent hyperactivity in BMP signaling. Here, by using FOP patient-derived induced pluripotent stem cells (F ...[more]