Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p121 | (1) | ICCBH2019

An Acvr1[R258G] ‘conditional on' mouse model of atypical fibrodysplasia ossificans progressiva (FOP) is Activin A dependent

Huang Lily , Schoenherr Chris , Wang Lili , Wen Xialing , McClain Joyce , Zhang Qian , Nannuru Kalyan , Idone Vincent , Murphy Andrew , Economides Aris , Hatsell Sarah

FOP is an autosomal dominant disorder characterized by early onset, episodic and progressive ossification of skeletal muscle and associated connective tissue. FOP is driven by mutations in the intracellular domain of ACVR1 (ALK2), the most common of which is R206H. However, rare FOP causing mutations exist throughout the GS and the kinase domain of Acvr1. Several of these mutations result what appears to be a more severe FOP phenotype that includes significant developmental ab...