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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. Among authors: hsiao ec. 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.
Self-reported baseline phenotypes from the International Fibrodysplasia Ossificans Progressiva (FOP) Association Global Registry.
Pignolo RJ, Cheung K, Kile S, Fitzpatrick MA, De Cunto C, Al Mukaddam M, Hsiao EC, Baujat G, Delai P, Eekhoff EMW, Di Rocco M, Grunwald Z, Haga N, Keen R, Levi B, Morhart R, Scott C, Sherman A, Zhang K, Kaplan FS. Pignolo RJ, et al. Among authors: hsiao ec. Bone. 2020 May;134:115274. doi: 10.1016/j.bone.2020.115274. Epub 2020 Feb 13. Bone. 2020. PMID: 32062004
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