Genetic Conditions > fibrodysplasia ossificans progressiva >

References

These sources were used to develop the Genetics Home Reference condition summary on fibrodysplasia ossificans progressiva.

Ahn J, Serrano de la Pena L, Shore EM, Kaplan FS. Paresis of a bone morphogenetic protein-antagonist response in a genetic disorder of heterotopic skeletogenesis. J Bone Joint Surg Am. 2003 Apr;85-A(4):667-74. PubMed citation
Blaszczyk M, Majewski S, Brzezinska-Wcislo L, Jablonska S. Fibrodysplasia ossificans progressiva. Eur J Dermatol. 2003 May-Jun;13(3):234-7. PubMed citation
OMIM: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Fiori JL, Billings PC, de la Peña LS, Kaplan FS, Shore EM. Dysregulation of the BMP-p38 MAPK signaling pathway in cells from patients with fibrodysplasia ossificans progressiva (FOP). J Bone Miner Res. 2006 Jun;21(6):902-9. PubMed citation
Gannon FH, Glaser D, Caron R, Thompson LD, Shore EM, Kaplan FS. Mast cell involvement in fibrodysplasia ossificans progressiva. Hum Pathol. 2001 Aug;32(8):842-8. PubMed citation
Groppe JC, Shore EM, Kaplan FS. Functional modeling of the ACVR1 (R206H) mutation in FOP. Clin Orthop Relat Res. 2007 Sep;462:87-92. PubMed citation
Kaplan FS, Glaser DL, Pignolo RJ, Shore EM. A new era for fibrodysplasia ossificans progressiva: a druggable target for the second skeleton. Expert Opin Biol Ther. 2007 May;7(5):705-12. Review. PubMed citation
Nakajima M, Haga N, Takikawa K, Manabe N, Nishimura G, Ikegawa S. The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva. J Hum Genet. 2007;52(5):473-5. Epub 2007 Mar 10. PubMed citation
O'Connell MP, Billings PC, Fiori JL, Deirmengian G, Roach HI, Shore EM, Kaplan FS. HSPG modulation of BMP signaling in fibrodysplasia ossificans progressiva cells. J Cell Biochem. 2007 Dec 15;102(6):1493-503. PubMed citation
Olmsted EA, Kaplan FS, Shore EM. Bone morphogenetic protein-4 regulation in fibrodysplasia ossificans progressiva. Clin Orthop Relat Res. 2003 Mar;(408):331-43. PubMed citation
Scarlett RF, Rocke DM, Kantanie S, Patel JB, Shore EM, Kaplan FS. Influenza-like viral illnesses and flare-ups of fibrodysplasia ossificans progressiva. Clin Orthop Relat Res. 2004 Jun;(423):275-9. PubMed citation
Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH, Connor JM, Delai P, Glaser DL, LeMerrer M, Morhart R, Rogers JG, Smith R, Triffitt JT, Urtizberea JA, Zasloff M, Brown MA, Kaplan FS. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet. 2006 May;38(5):525-7. Epub 2006 Apr 23. Erratum in: Nat Genet. 2007 Feb;39(2):276. FOP International Research Consortium [removed]; Cho, Tae-Joon [added]; Choi, In Ho [added]; Connor, J Michael [added]; Delai, Patricia [added]; Glaser, David L [added]; LeMerrer, Martine [added]; Morhart, Rolf [added]; Rogers, John G [added]; Smith, Roger [added]; Triffitt, James T [added]; Urtizberea, J Andoni [added]; Zasloff, Michael [added]. PubMed citation