ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A

Science Translational Medicine

Volumn 7, Issue 303, 2015, Pages

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

^a REGENERON PHARMACEUTICALS INC   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c AB)   (United States)

^d THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN A; CYTOKINE RECEPTOR; PROTEIN ACVR1R; UNCLASSIFIED DRUG; ACTIVIN; ACTIVIN RECEPTOR 1; ACVR1 PROTEIN, MOUSE; FK 506 BINDING PROTEIN; PROTEIN BINDING;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANTIBODY SPECIFICITY; ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENE TARGETING; GENETIC ASSOCIATION; HETEROTOPIC OSSIFICATION; HUMAN; HUMAN CELL; IN VIVO STUDY; LIGAND BINDING; MALE; MOLECULAR PATHOLOGY; MOUSE; MOUSE MODEL; NONHUMAN; OSSIFYING MYOSITIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FAMILY; SIGNAL TRANSDUCTION; WILD TYPE; ANIMAL; GENETICS; METABOLISM; MUTATION; TRANSGENIC MOUSE;

ACTIVIN RECEPTORS, TYPE I; ACTIVINS; ANIMALS; MICE; MICE, TRANSGENIC; MUTATION; MYOSITIS OSSIFICANS; PROTEIN BINDING; TACROLIMUS BINDING PROTEIN 1A;

EID: 84940829963     PISSN: 19466234     EISSN: 19466242     Source Type: Journal    
DOI: 10.1126/scitranslmed.aac4358     Document Type: Article

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