ACVR1(R206H) receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by episodically exuberant heterotopic ossification (HO), whereby skeletal muscle is abnormally converted into misplaced, but histologically normal bone. This HO leads to progressive immobility with catastrophic cons...

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Bibliografiska uppgifter
I publikationen:Sci Transl Med
Huvudupphovsmän: Hatsell, Sarah J., Idone, Vincent, Wolken, Dana M. Alessi, Huang, Lily, Kim, Hyon J., Wang, Lili, Wen, Xialing, Nannuru, Kalyan C., Jimenez, Johanna, Xie, Liqin, Das, Nanditha, Makhoul, Genevieve, Chernomorsky, Rostislav, D‘Ambrosio, David, Corpina, Richard A., Schoenherr, Christopher, Feeley, Kieran, Yu, Paul B., Yancopoulos, George D., Murphy, Andrew J., Economides, Aris N.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2015
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6164166/
https://ncbi.nlm.nih.gov/pubmed/26333933
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.aac4358
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