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

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dc.contributor.authorNiihori, T.
dc.contributor.authorAoki, Y.
dc.contributor.authorNarumi, Y.
dc.contributor.authorNeri, G.
dc.contributor.authorCave, H.
dc.contributor.authorVerloes, A.
dc.contributor.authorOkamoto, N.
dc.contributor.authorHennekam, RCM
dc.contributor.authorGillessen-Kaesbach, G.
dc.contributor.authorWieczorek, D.
dc.contributor.authorKavamura, M. I.
dc.contributor.authorKurosawa, K.
dc.contributor.authorOhashi, H.
dc.contributor.authorWilson, L.
dc.contributor.authorHeron, D.
dc.contributor.authorBonneau, D.
dc.contributor.authorCorona, G.
dc.contributor.authorKaname, T.
dc.contributor.authorNaritomi, K.
dc.contributor.authorBaumann, C.
dc.contributor.authorMatsumoto, N.
dc.contributor.authorKato, K.
dc.contributor.authorKure, S.
dc.contributor.authorMatsubara, Y.
dc.contributor.institutionTohoku Univ
dc.contributor.institutionCatholic Univ
dc.contributor.institutionHop Robert Debre
dc.contributor.institutionOsaka Med Ctr
dc.contributor.institutionRes Inst Maternal & Child Hlth
dc.contributor.institutionInst Child Hlth
dc.contributor.institutionAcad Med Ctr
dc.contributor.institutionUniv Essen Gesamthsch
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionKanagawa Childrens Med Ctr
dc.contributor.institutionSaitama Childrens Med Ctr
dc.contributor.institutionGreat Ormond St Hosp Sick Children
dc.contributor.institutionPitie Salpetriere Univ Hosp
dc.contributor.institutionUniv Hosp
dc.contributor.institutionAzienda Osped Univ G Martino
dc.contributor.institutionUniv Ryukyus
dc.contributor.institutionYokohama City Univ
dc.date.accessioned2016-01-24T12:41:02Z
dc.date.available2016-01-24T12:41:02Z
dc.date.issued2006-03-01
dc.description.abstractCardio-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.en
dc.description.affiliationTohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi, Japan
dc.description.affiliationCatholic Univ, Ist Genet Med, Rome, Italy
dc.description.affiliationHop Robert Debre, APHP, Dept Genet, Paris, France
dc.description.affiliationOsaka Med Ctr, Dept Planning & Res, Osaka, Japan
dc.description.affiliationRes Inst Maternal & Child Hlth, Osaka, Japan
dc.description.affiliationInst Child Hlth, Clin & Mol Genet Unit, London, England
dc.description.affiliationAcad Med Ctr, Dept Pediat, Amsterdam, Netherlands
dc.description.affiliationUniv Essen Gesamthsch, Inst Human Genet, Essen, Germany
dc.description.affiliationUNIFESP, Ctr Med Genet, São Paulo, Brazil
dc.description.affiliationKanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan
dc.description.affiliationSaitama Childrens Med Ctr, Div Med Genet, Saitama, Japan
dc.description.affiliationGreat Ormond St Hosp Sick Children, London, England
dc.description.affiliationPitie Salpetriere Univ Hosp, Dept Genet, Paris, France
dc.description.affiliationUniv Hosp, Dept Genet, Angers, France
dc.description.affiliationAzienda Osped Univ G Martino, Dipartimento Sci Pediat Med & Chirurg, Unita Operat Complessa Patol Neonatale & Terapia, Messina, Italy
dc.description.affiliationUniv Ryukyus, Sch Med, Dept Med Genet, Okinawa, Japan
dc.description.affiliationYokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan
dc.description.affiliationTohoku Univ, Comprehens Res & Educ Ctr Planning Drug Dev & Cli, Cent COE Program 21, Sendai, Miyagi, Japan
dc.description.affiliationUnifespUNIFESP, Ctr Med Genet, São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent294-296
dc.identifierhttp://dx.doi.org/10.1038/ng1749
dc.identifier.citationNature Genetics. New York: Nature Publishing Group, v. 38, n. 3, p. 294-296, 2006.
dc.identifier.doi10.1038/ng1749
dc.identifier.issn1061-4036
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/28781
dc.identifier.wosWOS:000235589600008
dc.language.isoeng
dc.publisherNature Publishing Group
dc.relation.ispartofNature Genetics
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.titleGermline KRAS and BRAF mutations in cardio-facio-cutaneous syndromeen
dc.typeinfo:eu-repo/semantics/article
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