Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Autor Niihori, T. Google Scholar
Aoki, Y. Google Scholar
Narumi, Y. Google Scholar
Neri, G. Google Scholar
Cave, H. Google Scholar
Verloes, A. Google Scholar
Okamoto, N. Google Scholar
Hennekam, RCM Google Scholar
Gillessen-Kaesbach, G. Google Scholar
Wieczorek, D. Google Scholar
Kavamura, M. I. Google Scholar
Kurosawa, K. Google Scholar
Ohashi, H. Google Scholar
Wilson, L. Google Scholar
Heron, D. Google Scholar
Bonneau, D. Google Scholar
Corona, G. Google Scholar
Kaname, T. Google Scholar
Naritomi, K. Google Scholar
Baumann, C. Google Scholar
Matsumoto, N. Google Scholar
Kato, K. Google Scholar
Kure, S. Google Scholar
Matsubara, Y. Google Scholar
Instituição Tohoku Univ
Catholic Univ
Hop Robert Debre
Osaka Med Ctr
Res Inst Maternal & Child Hlth
Inst Child Hlth
Acad Med Ctr
Univ Essen Gesamthsch
Universidade Federal de São Paulo (UNIFESP)
Kanagawa Childrens Med Ctr
Saitama Childrens Med Ctr
Great Ormond St Hosp Sick Children
Pitie Salpetriere Univ Hosp
Univ Hosp
Azienda Osped Univ G Martino
Univ Ryukyus
Yokohama City Univ
Resumo Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinctive facial appearance, heart defects and mental retardation. It phenotypically overlaps with Noonan and Costello syndrome, which are caused by mutations in PTPN11 and HRAS, respectively. in 43 individuals with CFC, we identified two heterozygous KRAS mutations in three individuals and eight BRAF mutations in 16 individuals, suggesting that dysregulation of the RAS-RAF-ERK pathway is a common molecular basis for the three related disorders.
Idioma Inglês
Data de publicação 2006-03-01
Publicado em Nature Genetics. New York: Nature Publishing Group, v. 38, n. 3, p. 294-296, 2006.
ISSN 1061-4036 (Sherpa/Romeo, fator de impacto)
Publicador Nature Publishing Group
Extensão 294-296
Fonte http://dx.doi.org/10.1038/ng1749
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000235589600008
Endereço permanente http://repositorio.unifesp.br/handle/11600/28781

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