L. Протеиновая модель мутаций при ПОФ

Chen Y-G, Liu F, Massagué J. Mechanism of TGF-β receptor inhibition by FKBP12. The EMBO J 16: 3866-3876. 1997

Groppe JC, Shore EM, Kaplan FS. Functional modeling of the ACVR1(R206H) mutation in FOP. Clin Orthop Relat Res 462: 87-92, 2007

Kaplan FS, Groppe J, Pignolo RJ, Shore EM. Morphogen receptor genes and metamorphogenes: skeleton keys to metamorphosis. Ann NY Acad Sci 1116: 113-133, 2007

Shen Q, Xu M, Little SC, Kaplan FS, Mullins MC, Shore EM. Activation of КМГП signaling by the FOP ACVR1 R206H mutation. J Bone Miner Res 22 (suppl. 1); S43, 2007

Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho T-J, Choi IH, Connor JM, Delai P, Glaser DL, Le Merrer M, Morhart R, Rogers JG, Smith R, Triffitt JT, Urtizberea JA, Zasloff M, Brown MA, Kaplan FS. A recurrent mutation in the КМГП type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nature Genetics 38: 525-527, 2006

Wang T, Li B-Y, Danielson PD, Shah PC, Rockwell, S, Lechleider RJ, Martin J, Manganaro T, Donahoe PK. The immunophilin FKBP12 functions as a common inhibitor of the TGF-β family type I receptors. Cell 86: 435-444, 1996

Yamaguchi T, Kurisaki A, Yamakawa N, Minakuchi K, Sugino H. FKBP12 functions as an adaptor of the Smad7-Smurf1 complex on activin type I receptor. J Mol Endocrinol 36: 569-579, 2006

M. Генетическое тестирование и ПОФ

Kaplan FS, Xu M, Glaser DL, Collins F, Connor M, Kitterman J, Sillence D, Zackai E, Ravitsky V, Zasloff M, Ganguly A, Shore EM. Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics 121: e1295-e1300, 2008.

N. Модель ПОФ на лабораторных животных

Fukada T, Scott G, Komatsu Y, Araya R, Kawano M, Ray, MK, Yamada M, Mishina Y. Generation of a mouse with conditionally activated signaling through the КМГП receptor, ALK2. Genesis 44: 159-167, 2006

Glaser DL, Economides AN, Wang L, Liu X, Kimble RD, Fandl JP, Wilson JM, Stahl, N, Kaplan FS, Shore EM. In vivo somatic cell gene transfer of an engineered noggin mutein prevents BMP4-induced heterotopic ossification. J Bone Joint Surg Am 12: 2332-2342, 2003

Kan L, Hu M, Gomes WA, Kessler JA. Transgenic mice overexpressing BMP4 develop a fibrodysplasia ossificans progressiva (ПОФ)-like phenotype. Am J Pathol 165: 1107-1115, 2004

Kaplan FS, Shore EM, Pignolo RJ Glaser DL. Animal models of fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab 3: 229-234, 2005

Olmsted EA, Gannon FH, Wang Z-Q, Grigoriadis AE, Wagner EF, Zasloff MA, Shore EM, Kaplan FS: Embryonic overexpression of the c-fos proto-oncogene: a murine stem cell chimera applicable to the study of fibrodysplasia ossificans progressiva in humans. Clin Orthop 346: 81-94, 1998