HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome-Reference-Cited by-同舟云学术

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome

Published:2011-08-18 Issue:10 Volume:56 Page:707-715
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Niihori Tetsuya,Aoki Yoko,Okamoto Nobuhiko,Kurosawa Kenji,Ohashi Hirofumi,Mizuno Seiji,Kawame Hiroshi,Inazawa Johji,Ohura Toshihiro,Arai Hiroshi,Nabatame Shin,Kikuchi Kiyoshi,Kuroki Yoshikazu,Miura Masaru,Tanaka Toju,Ohtake Akira,Omori Isaku,Ihara Kenji,Mabe Hiroyo,Watanabe Kyoko,Niijima Shinichi,Okano Erika,Numabe Hironao,Matsubara Yoichi

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg201185.pdf

Reference53 articles.

1. Hennekam, R. C. Costello syndrome: an overview. Am. J. Med. Genet. C. Semin. Med. Genet. 117C, 42–48 (2003).

2. Aoki, Y., Niihori, T., Narumi, Y., Kure, S. & Matsubara, Y. The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. Hum. Mutat. 29, 992–1006 (2008).

3. Aoki, Y., Niihori, T., Kawame, H., Kurosawa, K., Ohashi, H., Tanakam, Y. et al. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat. Genet. 37, 1038–1040 (2005).

4. Kerr, B., Allanson, J., Delrue, M. A., Gripp, K. W., Lacombe, D., Lin, A. E. et al. The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. Am. J. Med. Genet. A 146A, 1218–1220 (2008).

5. Estep, A. L., Tidyman, W. E., Teitell, M. A., Cotter, P. D. & Rauen, K. A. HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. Am. J. Med. Genet. A. 140, 8–16 (2006).

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