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

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

  By Sarah J. Hatsell, Vincent Idone, Dana M. Alessi Wolken, Lily Huang, Hyon J. Kim, Lili Wang, Xialing Wen, Kalyan C. Nannuru, Johanna Jimenez, Liqin Xie, Nanditha Das, Genevieve Makhoul, Rostislav Chernomorsky, David D’Ambrosio, Richard A. Corpina, Christopher J. Schoenherr, Kieran Feeley, Paul B. Yu, George D. Yancopoulos, Andrew J. Murphy, Aris N. Economides

  Science Translational Medicine02 Sep 2015 : 303ra137

  In patients with fibrodysplasia ossificans progressiva, the disease-causing mutation changes the ligand response profile of the ACVR1 receptor so that it is activated by the normally antagonistic ligand activin A.

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

  By Sarah J. Hatsell, Vincent Idone, Dana M. Alessi Wolken, Lily Huang, Hyon J. Kim, Lili Wang, Xialing Wen, Kalyan C. Nannuru, Johanna Jimenez, Liqin Xie, Nanditha Das, Genevieve Makhoul, Rostislav Chernomorsky, David D’Ambrosio, Richard A. Corpina, Christopher J. Schoenherr, Kieran Feeley, Paul B. Yu, George D. Yancopoulos, Andrew J. Murphy, Aris N. Economides

  Science Translational Medicine02 Sep 2015 : 303ra137

  In patients with fibrodysplasia ossificans progressiva, the disease-causing mutation changes the ligand response profile of the ACVR1 receptor so that it is activated by the normally antagonistic ligand activin A.

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