Article
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.
Journal of human genetics - 1 Oct 2011
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
Abstract excerpt
Costello syndrome (CS) is a congenital disease that is characterized by a distinctive facial appearance, failure to thrive, mental retardation and cardiomyopathy. In 2005, we discovered that heterozygous germline mutations in HRAS caused CS. Several studies have shown that CS-associated HRAS mutations are clustered in codons 12 and 13, and mutations in other codons have also been identified. However, a...
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