Article
Recapitulation of pro-inflammatory signature of monocytes with ACVR1A mutation using FOP patient-derived iPSCs.
Orphanet journal of rare diseases - 21 Sept 2022
Maekawa Hirotsugu, Jin Yonghui, Nishio Megumi, Kawai Shunsuke, Nagata Sanae, Kamakura Takeshi, Yoshitomi Hiroyuki, Niwa Akira, Saito Megumu K, Matsuda Shuichi, Toguchida Junya
Abstract excerpt
BACKGROUND: Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by progressive heterotopic ossification (HO) in soft tissues due to a heterozygous mutation of the ACVR1A gene (FOP-ACVR1A), which erroneously transduces the BMP signal by Activin-A. Although inflammation is known to trigger HO in FOP, the role of FOP-ACVR1A on inflammatory cells remains to be elucidated. RESULTS: We...
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