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A unique mutation of ALK2, G356D, found in a patient with fibrodysplasia ossificans progressiva is a moderately activated BMP type I receptor.
Fukuda T, Kanomata K, Nojima J, Kokabu S, Akita M, Ikebuchi K, Jimi E, Komori T, Maruki Y, Matsuoka M, Miyazono K, Nakayama K, Nanba A, Tomoda H, Okazaki Y, Ohtake A, Oda H, Owan I, Yoda T, Haga N, Furuya H, Katagiri T. Fukuda T, et al. Biochem Biophys Res Commun. 2008 Dec 19;377(3):905-9. doi: 10.1016/j.bbrc.2008.10.093. Epub 2008 Oct 24. Biochem Biophys Res Commun. 2008. PMID: 18952055
The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma.
Wu G, Diaz AK, Paugh BS, Rankin SL, Ju B, Li Y, Zhu X, Qu C, Chen X, Zhang J, Easton J, Edmonson M, Ma X, Lu C, Nagahawatte P, Hedlund E, Rusch M, Pounds S, Lin T, Onar-Thomas A, Huether R, Kriwacki R, Parker M, Gupta P, Becksfort J, Wei L, Mulder HL, Boggs K, Vadodaria B, Yergeau D, Russell JC, Ochoa K, Fulton RS, Fulton LL, Jones C, Boop FA, Broniscer A, Wetmore C, Gajjar A, Ding L, Mardis ER, Wilson RK, Taylor MR, Downing JR, Ellison DW, Zhang J, Baker SJ. Wu G, et al. Nat Genet. 2014 May;46(5):444-450. doi: 10.1038/ng.2938. Epub 2014 Apr 6. Nat Genet. 2014. PMID: 24705251 Free PMC article.
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.
Kaplan FS, Xu M, Seemann P, Connor JM, Glaser DL, Carroll L, Delai P, Fastnacht-Urban E, Forman SJ, Gillessen-Kaesbach G, Hoover-Fong J, Köster B, Pauli RM, Reardon W, Zaidi SA, Zasloff M, Morhart R, Mundlos S, Groppe J, Shore EM. Kaplan FS, et al. Hum Mutat. 2009 Mar;30(3):379-90. doi: 10.1002/humu.20868. Hum Mutat. 2009. PMID: 19085907 Free PMC article.