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

Journal of Human Genetics

Volumn 56, Issue 10, 2011, Pages 707-715

  Niihori, Tetsuya ^a   Aoki, Yoko ^a   Okamoto, Nobuhiko ^b   Kurosawa, Kenji ^c   Ohashi, Hirofumi ^d   Mizuno, Seiji ^e   Kawame, Hiroshi ^f   Inazawa, Johji ^g   Ohura, Toshihiro ^h   Arai, Hiroshi ⁱ   Nabatame, Shin ^j   Kikuchi, Kiyoshi ^k   Kuroki, Yoshikazu ^l   Miura, Masaru ^m   Tanaka, Toju ⁿ   Ohtake, Akira ^o   Omori, Isaku ^p   Ihara, Kenji ^q   Mabe, Hiroyo ^r   Watanabe, Kyoko ^s   Niijima, Shinichi ^t   Okano, Erika ^u   Numabe, Hironao ^v   Matsubara, Yoichi ^a   more..

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^c KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^d SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^e INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^f OCHANOMIZU UNIVERSITY   (Japan)

^g TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^h SENDAI CITY HOSPITAL   (Japan)

ⁱ OSAKA UNIVERSITY   (Japan)

^j NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^k SHIMANE PREFECTURAL CENTRAL HOSPITAL   (Japan)

^l KURASHIKI CENTRAL HOSPITAL   (Japan)

^m TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

ⁿ NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^o SAITAMA MEDICAL UNIVERSITY   (Japan)

^p TOKYO METROPOLITAN BOKUTOH HOSPITAL   (Japan)

^q KYUSHU UNIVERSITY   (Japan)

^r KUMAMOTO UNIVERSITY   (Japan)

^s Kokura Medical Center   (Japan)

^t JUNTENDO UNIVERSITY   (Japan)

^u JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^v KYOTO UNIVERSITY HOSPITAL   (Japan)

more..

Author keywords

Costello syndrome; HRAS; phenotype genotype; RAS MAPK; senescence

Indexed keywords

BETA ACTIN; MITOGEN ACTIVATED PROTEIN KINASE; MUTANT PROTEIN; PROTEIN P16; PROTEIN P53; RAF PROTEIN; STRESS ACTIVATED PROTEIN KINASE;

ADOLESCENT; ARTICLE; CELL PROLIFERATION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; CONTROLLED STUDY; COSTELLO SYNDROME; FEMALE; FIBROBLAST; GENE CLUSTER; GERM LINE; HETEROZYGOSITY; HUMAN; HUMAN CELL; INFANT; MALE; MUTANT; NUCLEOTIDE SEQUENCE; ONCOGENE; ONCOGENE H RAS; PATHOGENESIS; PROTEIN EXPRESSION; SENESCENCE; SIGNAL TRANSDUCTION;

ADOLESCENT; ADULT; ANIMALS; CELL AGING; CELL LINE; CHILD; CHILD, PRESCHOOL; CODON; COSTELLO SYNDROME; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLASTS; GENOTYPE; HUMANS; INFANT; MALE; MICE; MUTATION; NIH 3T3 CELLS; PHENOTYPE; PROTO-ONCOGENE PROTEINS P21(RAS); SIGNAL TRANSDUCTION; UP-REGULATION;

EID: 80155195969     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.85     Document Type: Article

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