Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva-Reference-Cited by-同舟云学术

Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva

Published:2015-01-21 Issue:10 Volume:23 Page:1431-1431
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Bravenboer Nathalie,Micha Dimitra,Triffit James T,Bullock Alex N,Ravazollo Roberto,Bocciardi Renata,di Rocco Maja,Netelenbos J Coen,Ten Dijke Peter,Sánchez-Duffhues Gonzalo,Kaplan Fred S,Shore Eileen M,Pignolo Robert J,Seemann Petra,Ventura Francesc^ORCID,Beaujat Genevieve,Eekhoff Elizabeth M W,Pals Gerard

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014274.pdf

Reference20 articles.

1. Kaplan FS, Xu M, Seemann P, Connor JM, Glaser DL, Carroll L et al: Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat 2009; 30: 379–390.

2. Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH et al: A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet 2006; 38: 525–527.

3. Kaplan FS, Pignolo RJ, Shore EM : The FOP metamorphogene encodes a novel type I receptor that dysregulates BMP signaling. Cytokine Growth Factor Rev 2009; 20: 399–407.

4. Haupt J, Deichsel A, Stange K, Ast C, Bocciardi R, Ravazzolo R et al: ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant. Hum Mol Genet 2014; 23:5364–5377.

5. Pignolo RJ, Shore EM, Kaplan FS : Fibrodysplasia ossificans progressiva: clinical and genetic aspects. Orphanet J Rare Dis 2011; 6: 80.

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