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Recent Topics in Fibrodysplasia Ossificans Progressiva
Takenobu Katagiri,Sho Tsukamoto,Yutaka Nakachi,Mai Kuratani 대한내분비학회 2018 Endocrinology and metabolism Vol.33 No.3
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease that is characterized by the formation of heterotopic bone tissuesin soft tissues, such as skeletal muscle, ligament, and tendon. It is difficult to remove such heterotopic bones via internal medicineor invasive procedures. The identification of activin A receptor, type I (ACVR1)/ALK2 gene mutations associated with FOP hasallowed the genetic diagnosis of FOP. The ACVR1/ALK2 gene encodes the ALK2 protein, which is a transmembrane kinase receptorin the transforming growth factor-β family. The relevant mutations activate intracellular signaling in vitro and induce heterotopicbone formation in vivo. Activin A is a potential ligand that activates mutant ALK2 but not wild-type ALK2. Various types of smallchemical and biological inhibitors of ALK2 signaling have been developed to establish treatments for FOP. Some of these are inclinical trials in patients with FOP.