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- Title
ACVR1<sup>R206H</sup> receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A.
- Authors
Hatsell, Sarah J.; Idone, Vincent; Alessi Wolken, Dana M.; Huang, Lily; Kim, Hyon J.; Lili Wang; Xialing Wen; Nannuru, Kalyan C.; Jimenez, Johanna; Liqin Xie; Das, Nanditha; Makhoul, Genevieve; Chernomorsky, Rostislav; D’Ambrosio, David; Corpina, Richard A.; Schoenherr, Christopher J.; Feeley, Kieran; Yu, Paul B.; Yancopoulos, George D.; Murphy, Andrew J.
- Abstract
The article presents research conducted by Sarah J. Hatsell on the development of fibrodysplasia ossificans progressiva (FOP) due to ACVR1R206H receptor mutation. Topics discussed include mice models with mutated genes exhibited perinatal death; development of heterotropic ossification by mouse models that express Acvr1[R206H]; and therapeutic use of human antibody to activin A for FOP.
- Subjects
FIBRODYSPLASIA ossificans progressiva; GENETIC mutation; PERINATAL death; HETEROTOPIC ossification; THERAPEUTIC use of immunoglobulins
- Publication
Science Translational Medicine, 2015, Vol 7, Issue 303, p1
- ISSN
1946-6234
- Publication type
Article
- DOI
10.1126/scitranslmed.aac4358