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The ACVR1 R206H mutation found in fibrodysplasia ossificans progressiva increases human induced pluripotent stem cell-derived endothelial cell formation and collagen production through BMP-mediated SMAD1/5/8 signaling.
Barruet E, Morales BM, Lwin W, White MP, Theodoris CV, Kim H, Urrutia A, Wong SA, Srivastava D, Hsiao EC. Barruet E, et al. Stem Cell Res Ther. 2016 Aug 17;7(1):115. doi: 10.1186/s13287-016-0372-6. Stem Cell Res Ther. 2016. PMID: 27530160 Free PMC article.