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ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant.
Haupt J, Deichsel A, Stange K, Ast C, Bocciardi R, Ravazzolo R, Di Rocco M, Ferrari P, Landi A, Kaplan FS, Shore EM, Reissner C, Seemann P. Haupt J, et al. Among authors: ravazzolo r. Hum Mol Genet. 2014 Oct 15;23(20):5364-77. doi: 10.1093/hmg/ddu255. Epub 2014 May 22. Hum Mol Genet. 2014. PMID: 24852373 Free PMC article.
Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop.
de Ruiter RD, Smilde BJ, Pals G, Bravenboer N, Knaus P, Schoenmaker T, Botman E, Sánchez-Duffhues G, Pacifici M, Pignolo RJ, Shore EM, van Egmond M, Van Oosterwyck H, Kaplan FS, Hsiao EC, Yu PB, Bocciardi R, De Cunto CL, Longo Ribeiro Delai P, de Vries TJ, Hilderbrandt S, Jaspers RT, Keen R, Koolwijk P, Morhart R, Netelenbos JC, Rustemeyer T, Scott C, Stockklausner C, Ten Dijke P, Triffit J, Ventura F, Ravazzolo R, Micha D, Eekhoff EMW. de Ruiter RD, et al. Among authors: ravazzolo r. Front Endocrinol (Lausanne). 2021 Nov 10;12:732728. doi: 10.3389/fendo.2021.732728. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34858325 Free PMC article. Review.
232 results