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Skeletal metamorphosis in fibrodysplasia ossificans progressiva (FOP).
Kaplan FS, Shen Q, Lounev V, Seemann P, Groppe J, Katagiri T, Pignolo RJ, Shore EM. Kaplan FS, et al. Among authors: groppe j. J Bone Miner Metab. 2008;26(6):521-30. doi: 10.1007/s00774-008-0879-8. Epub 2008 Nov 1. J Bone Miner Metab. 2008. PMID: 18979151 Free PMC article. Review.
Fibrodysplasia ossificans progressiva.
Kaplan FS, Le Merrer M, Glaser DL, Pignolo RJ, Goldsby RE, Kitterman JA, Groppe J, Shore EM. Kaplan FS, et al. Among authors: groppe j. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):191-205. doi: 10.1016/j.berh.2007.11.007. Best Pract Res Clin Rheumatol. 2008. PMID: 18328989 Free PMC article. Review.
Response to "Mutations of the NOGGIN and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP)" by Lucotte et al.
Kaplan FS, Xu M, Feldman G, Brown M, Cho TJ, Choi IH, Connor JM, Delai PL, Economides AN, Glaser DL, Groppe J, Katagiri T, Le Merrer M, Morhart R, Ravazzolo R, Rogers JG, Smith R, Triffitt JT, Urtizberea JA, Zasloff M, Shore EM. Kaplan FS, et al. Among authors: groppe j. Genet Couns. 2008;19(3):357-9; author reply 361-3. Genet Couns. 2008. PMID: 18990993 No abstract available.
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. Among authors: groppe j. Hum Mutat. 2009 Mar;30(3):379-90. doi: 10.1002/humu.20868. Hum Mutat. 2009. PMID: 19085907 Free PMC article.
Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.
Seemann P, Brehm A, König J, Reissner C, Stricker S, Kuss P, Haupt J, Renninger S, Nickel J, Sebald W, Groppe JC, Plöger F, Pohl J, Schmidt-von Kegler M, Walther M, Gassner I, Rusu C, Janecke AR, Dathe K, Mundlos S. Seemann P, et al. Among authors: groppe jc. PLoS Genet. 2009 Nov;5(11):e1000747. doi: 10.1371/journal.pgen.1000747. Epub 2009 Nov 26. PLoS Genet. 2009. PMID: 19956691 Free PMC article.
45 results