Genetic abnormalities in Fibrodysplasia Ossificans Progressiva
Author:
Affiliation:
1. Department of Orthopedics, The Third Xiangya Hospital of Central South University
2. Department of Biochemistry, School of Biological Science and Technology, Central South University
Publisher
Genetics Society of Japan
Subject
Genetics,Molecular Biology,General Medicine
Link
https://www.jstage.jst.go.jp/article/ggs/87/4/87_213/_pdf
Reference49 articles.
1. Ahn, J., Feldman, G., Terry, L., Shore, E. M., and Kaplan, F. S. (2003) Exoneration of NF-kappaB dysregulation in fibrodysplasia ossificans progressiva. Clin. Orthop. Relat. Res. 406, 205–213.
2. Bocciardi, R., Bordo, D., Di Duca, M., Di Rocco, M., and Ravazzolo, R. (2009) Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements. Eur. J. Hum. Genet. 17, 311–318.
3. Carvalho, D. R., Navarro, M. M., Martins, B. J., Coelho, K. E., Mello, W. D., Takata, R. I., and Speck-Martins, C. E. (2010) Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients. Clin. Genet. 77, 171–176.
4. Chakkalakal, S. A., Zhang, D., Culbert, A. L., Convente, M. R., Caron, R. J., Wright, A. C., Maidment, A. D., Kaplan, F. S., and Shore, E. M. (2012) An ACVR1 R206H knock-in mouse has fibrodysplasia ossificans progressiva. J. Bone Miner. Res. 27, 1746–1756.
5. Connor, J. M., and Evans, D. A. (1982) Genetic aspects of fibrodysplasia ossificans progressiva. J. Med. Genet. 19, 35–39.
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