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A unique mutation of ALK2, G356D, found in a patient with fibrodysplasia ossificans progressiva is a moderately activated BMP type I receptor.
Fukuda T, Kanomata K, Nojima J, Kokabu S, Akita M, Ikebuchi K, Jimi E, Komori T, Maruki Y, Matsuoka M, Miyazono K, Nakayama K, Nanba A, Tomoda H, Okazaki Y, Ohtake A, Oda H, Owan I, Yoda T, Haga N, Furuya H, Katagiri T. Fukuda T, et al. Among authors: haga n. Biochem Biophys Res Commun. 2008 Dec 19;377(3):905-9. doi: 10.1016/j.bbrc.2008.10.093. Epub 2008 Oct 24. Biochem Biophys Res Commun. 2008. PMID: 18952055
Deformity of the great toe in fibrodysplasia ossificans progressiva.
Nakashima Y, Haga N, Kitoh H, Kamizono J, Tozawa K, Katagiri T, Susami T, Fukushi J, Iwamoto Y. Nakashima Y, et al. Among authors: haga n. J Orthop Sci. 2010 Nov;15(6):804-9. doi: 10.1007/s00776-010-1542-5. Epub 2010 Nov 30. J Orthop Sci. 2010. PMID: 21116899
A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206H.
Ohte S, Shin M, Sasanuma H, Yoneyama K, Akita M, Ikebuchi K, Jimi E, Maruki Y, Matsuoka M, Namba A, Tomoda H, Okazaki Y, Ohtake A, Oda H, Owan I, Yoda T, Furuya H, Kamizono J, Kitoh H, Nakashima Y, Susami T, Haga N, Komori T, Katagiri T. Ohte S, et al. Among authors: haga n. Biochem Biophys Res Commun. 2011 Apr 1;407(1):213-8. doi: 10.1016/j.bbrc.2011.03.001. Epub 2011 Mar 4. Biochem Biophys Res Commun. 2011. PMID: 21377447
The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva.
Mantick N, Bachman E, Baujat G, Brown M, Collins O, De Cunto C, Delai P, Eekhoff M, Zum Felde R, Grogan DR, Haga N, Hsiao E, Kantanie S, Kaplan F, Keen R, Milosevic J, Morhart R, Pignolo R, Qian X, di Rocco M, Scott C, Sherman A, Wallace M, Williams N, Zhang K, Bogard B. Mantick N, et al. Among authors: haga n. Bone. 2018 Apr;109:285-290. doi: 10.1016/j.bone.2017.08.032. Epub 2017 Sep 1. Bone. 2018. PMID: 28866367
475 results