K. ACVR1/ALK2: выбор объектов-мишеней для проведения терапии

Cuny GD, Yu PB, Laha JK, Xing X, Liu J-F, Lai CS, Deng DY, Sachidanandan C, Bloch KD, Peterson RT. Structure-activity relationship study of bone morphogenetic protein (КМГП) signaling inhibitors. Bioorganic & Medicinal Chemistry Letters, 18: 4388-4392, 2008

Fukada T, Kohda M, Kanomata K, Nojima J, Kamizono J, Oda H, Nakayama K, Ohtake A, Miyazono K, Jimi E, Owan I, Okazaki Y, Katagiri T. A constitutively activated КМГП receptor, ALK2, induces heterotopic bone formation in patients with fibrodysplasia ossificans progressiva. J Bone Miner Res 22 (suppl. 1); S10, 2007

Kaplan FS. The key to the closet is the key to the kingdom: a common lesson of rare diseases. Orphan Disease Update 24(3): 1-9, 2006

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 7: 705-712, 2007

Kaplan FS, Le Merrer M, Glaser DL, Pignolo RJ, Goldsby R, Kitterman JA, Groppe J, Shore EM. Fibrodysplasia ossificans progressiva (ПОФ). Best Practice & Research – Clinical Rheumatology 22: 191-205, 2008

Kaplan FS, Pignolo R, Glaser DL, Shore EM. The Seventeenth Annual ПОФ Collaborative Research Report. www.iFOPa.org

Roush W. Protein builds second skeleton. Science 273: 1170, 1996

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

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

Yu PB, Hong CC, Sachidanandan C, Babitt JL. Dong DY, Hoyng SA, Lin HY, Bloch KD, Peterson RT. Dorsomorphin inhibits КМГП signals required for embryogenesis and iron metabolism. Nat Chem Biol 4: 33-41, 2008

III. ЧАСТНЫЕ СЛУЧАИ МЕДИЦИНСКОЙ ПРАКТИКИ

A. Ведение