메뉴 건너뛰기




Volumn 54, Issue 3, 2012, Pages 119-123

Recent topics in fibrodysplasia ossificans progressiva

Author keywords

Bone morphogenetic protein; Genetic disorder; Receptor; Treatment

Indexed keywords


EID: 84867572714     PISSN: 13490079     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.job.2012.03.004     Document Type: Review
Times cited : (10)

References (34)
  • 1
    • 25844523629 scopus 로고    scopus 로고
    • Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva
    • Kitterman JA, Kantanie S, Rocke DM, Kaplan FS. Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva. Pediatrics 2005;116: e654-61.
    • (2005) Pediatrics , vol.116
    • Kitterman, J.A.1    Kantanie, S.2    Rocke, D.M.3    Kaplan, F.S.4
  • 2
    • 49149127819 scopus 로고    scopus 로고
    • Insights from a rare genetic disorder of extra-skeletal bone formation, fibrodysplasia ossificans progressiva (FOP)
    • Shore EM, Kaplan FS. Insights from a rare genetic disorder of extra-skeletal bone formation, fibrodysplasia ossificans progressiva (FOP). Bone 2008;43: 427-33.
    • (2008) Bone , vol.43 , pp. 427-433
    • Shore, E.M.1    Kaplan, F.S.2
  • 3
    • 77954143494 scopus 로고    scopus 로고
    • Heterotopic bone formation induced by bone morphogenetic protein signaling: Fibrodysplasia ossificans progressiva
    • Katagiri T. Heterotopic bone formation induced by bone morphogenetic protein signaling: fibrodysplasia ossificans progressiva. J Oral Biosci 2010;52:33-41.
    • J Oral Biosci , vol.2010 , Issue.52 , pp. 33-41
    • Katagiri, T.1
  • 5
    • 54549116504 scopus 로고    scopus 로고
    • The bone morphogenetic proteins
    • Miyazono K, Derynck R, editors. New York: Cold Spring Harbor
    • Katagiri T, Suda T, Miyazono K. The bone morphogenetic proteins. In: Miyazono K, Derynck R, editors. The TGF-beta family. New York: Cold Spring Harbor; 2008. p. 121-49.
    • (2008) The TGF-beta Family , pp. 121-149
    • Katagiri, T.1    Suda, T.2    Miyazono, K.3
  • 8
    • 34247607292 scopus 로고    scopus 로고
    • The ACVR1 617 G4A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva
    • Nakajima M, Haga N, Takikawa K, Manabe N, Nishimura G, Ikegawa S. The ACVR1 617 G4A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva. J Hum Genet 2007;52:473-5.
    • (2007) J Hum Genet , vol.52 , pp. 473-475
    • Nakajima, M.1    Haga, N.2    Takikawa, K.3    Manabe, N.4    Nishimura, G.5    Ikegawa, S.6
  • 10
    • 0033428271 scopus 로고    scopus 로고
    • A de novo heterozygous deletion of 42 base-pairs in the noggin gene of a fibrodysplasia ossificans progressiva patient
    • Lucotte G, Semonin O, Lutz P. A de novo heterozygous deletion of 42 base-pairs in the noggin gene of a fibrodysplasia ossificans progressiva patient. Clin Genet 1999;56:469-70.
    • (1999) Clin Genet , vol.56 , pp. 469-470
    • Lucotte, G.1    Semonin, O.2    Lutz, P.3
  • 15
    • 4444280605 scopus 로고    scopus 로고
    • Interaction of the BMPR-IA tumor suppressor with a developmentally relevant splicing factor
    • Nishanian TG, Waldman T. Interaction of the BMPR-IA tumor suppressor with a developmentally relevant splicing factor. Biochem Biophys Res Commun 2004;323:91-7.
    • (2004) Biochem Biophys Res Commun , vol.323 , pp. 91-97
    • Nishanian, T.G.1    Waldman, T.2
  • 16
    • 80051799654 scopus 로고    scopus 로고
    • In vitro analyses of the dysregulated R206H ALK2 kinase-FKBP12 interaction associated with heterotopic ossification in FOP
    • Groppe JC, Wu J, Shore EM, Kaplan FS. In vitro analyses of the dysregulated R206H ALK2 kinase-FKBP12 interaction associated with heterotopic ossification in FOP. Cells Tissues Organs 2011;194:291-5.
    • (2011) Cells Tissues Organs , vol.194 , pp. 291-295
    • Groppe, J.C.1    Wu, J.2    Shore, E.M.3    Kaplan, F.S.4
  • 17
    • 79751537956 scopus 로고    scopus 로고
    • A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date
    • Gregson CL, Hollingworth P, Williams M, Petrie KA, Bullock AN, Brown MA, Tobias JH, Triffitt JT. A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date. Bone 2011;48:654-8.
    • Bone , vol.2011 , Issue.48 , pp. 654-658
    • Gregson, C.L.1    Hollingworth, P.2    Williams, M.3    Petrie, K.A.4    Bullock, A.N.5    Brown, M.A.6    Tobias, J.H.7    Triffitt, J.T.8
  • 20
    • 60749137428 scopus 로고    scopus 로고
    • Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: Confirmations and advancements
    • Bocciardi R, Bordo D, Di Duca M, Di Rocco M, Ravazzolo R. Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements. Eur J Hum Genet 2009;17:311-8.
    • (2009) Eur J Hum Genet , vol.17 , pp. 311-318
    • Bocciardi, R.1    Bordo, D.2    Di Duca, M.3    Di Rocco, M.4    Ravazzolo, R.5
  • 21
    • 72949121253 scopus 로고    scopus 로고
    • Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva
    • Ratbi I, Borcciadi R, Regragui A, Ravazzolo R, Sefiani A. Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva. Clin Rheumatol 2012;29:119-121.
    • Clin Rheumatol , vol.2012 , Issue.29 , pp. 119-121
    • Ratbi, I.1    Borcciadi, R.2    Regragui, A.3    Ravazzolo, R.4    Sefiani, A.5
  • 23
    • 38849093307 scopus 로고    scopus 로고
    • A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H)
    • Furuya H, Ikezoe K, Wang L, Ohyagi Y, Motomura K, Fujii N, Kira J, Fukumaki Y. A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H). Am J Med Genet A 2008;146A:459-63.
    • (2008) Am J Med Genet A , vol.146 A , pp. 459-463
    • Furuya, H.1    Ikezoe, K.2    Wang, L.3    Ohyagi, Y.4    Motomura, K.5    Fujii, N.6    Kira, J.7    Fukumaki, Y.8
  • 24
    • 78651330854 scopus 로고    scopus 로고
    • BMP signalling permits population expansion by preventing premature myogenic differentiation in muscle satellite cells
    • Ono Y, Calhabeu F, Morgan JE, Katagiri T, Amthor H, Zammit PS. BMP signalling permits population expansion by preventing premature myogenic differentiation in muscle satellite cells. Cell Death Differ 2011;18:222-34.
    • (2011) Cell Death Differ , Issue.18 , pp. 222-234
    • Ono, Y.1    Calhabeu, F.2    Morgan, J.E.3    Katagiri, T.4    Amthor, H.5    Zammit, P.S.6
  • 27
    • 84857283030 scopus 로고    scopus 로고
    • Fibrodysplasia ossificans progressiva: Middle-age onset of heterotopic ossification from a unique missense mutation (c.974G4C, p.G325A) in ACVR1
    • Whyte MP, Wenkert D, Demertzis JL, Dicarlo EF, Westenberg E, Mumm S. Fibrodysplasia ossificans progressiva: Middle-age onset of heterotopic ossification from a unique missense mutation (c.974G4C, p.G325A) in ACVR1. J Bone Miner Res. 2012;27:729-37.
    • J Bone Miner Res. , vol.2012 , Issue.27 , pp. 729-737
    • Whyte, M.P.1    Wenkert, D.2    Demertzis, J.L.3    Dicarlo, E.F.4    Westenberg, E.5    Mumm, S.6
  • 29
    • 84867580619 scopus 로고    scopus 로고
    • Fungal pyrrolidine-containing metabolites inhibit alkaline phos-phatase activity in bone morphogenetic protein-stimulated myoblastoma cells
    • Fukuda T, Uchida R, Inoue H, Ohte S, Yamazaki H, Matsuda D, Katagiri T, Tomoda H. Fungal pyrrolidine-containing metabolites inhibit alkaline phos-phatase activity in bone morphogenetic protein-stimulated myoblastoma cells. Acta Pharm Sin B. 2012;2:23-7.
    • Acta Pharm Sin B. , vol.2012 , Issue.2 , pp. 23-27
    • Fukuda, T.1    Uchida, R.2    Inoue, H.3    Ohte, S.4    Yamazaki, H.5    Matsuda, D.6    Katagiri, T.7    Tomoda, H.8
  • 31
    • 84863716164 scopus 로고    scopus 로고
    • Disease-causing allele-specific silencing against the ALK2 mutants, R206H and G356D, in fibrodysplasia ossificans progressiva
    • Takahashi M, Katagiri T, Furuya H, Hohjoh H. Disease-causing allele-specific silencing against the ALK2 mutants, R206H and G356D, in fibrodysplasia ossificans progressiva. Gene Ther. 2012;19:781-5.
    • Gene Ther. , vol.2012 , Issue.19 , pp. 781-785
    • Takahashi, M.1    Katagiri, T.2    Furuya, H.3    Hohjoh, H.4
  • 33
    • 77953495378 scopus 로고    scopus 로고
    • Rosiglitazone therapy is associated with major clinical improvements in a patient with fibrodysplasia ossificans progressiva
    • Gatti D, Viapiana O, Rossini M, Silvano A. Rosiglitazone therapy is associated with major clinical improvements in a patient with fibrodysplasia ossificans progressiva. J Bone Miner Res 2011;25:1460-2.
    • (2011) J Bone Miner Res , Issue.25 , pp. 1460-1462
    • Gatti, D.1    Viapiana, O.2    Rossini, M.3    Silvano, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.