Gain-of-function mutations in RIT1 cause noonan syndrome, a RAS/MAPK pathway syndrome

American Journal of Human Genetics

Volumn 93, Issue 1, 2013, Pages 173-180

  Aoki, Yoko ^a   Niihori, Tetsuya ^a   Banjo, Toshihiro ^b   Okamoto, Nobuhiko ^c   Mizuno, Seiji ^d   Kurosawa, Kenji ^e   Ogata, Tsutomu ^f   Takada, Fumio ^g   Yano, Michihiro ^h   Ando, Toru ⁱ   Hoshika, Tadataka ^j   Barnett, Christopher ^k,l   Ohashi, Hirofumi ^m   Kawame, Hiroshi ⁿ   Hasegawa, Tomonobu ^o   Okutani, Takahiro ^p   Nagashima, Tatsuo ^q   Hasegawa, Satoshi ^r   Funayama, Ryo ^s   Nagashima, Takeshi ^s   Nakayama, Keiko ^s   Inoue, Shin Ichi ^a   Watanabe, Yusuke ^b   Ogura, Toshihiko ^b   Matsubara, Yoichi ^a,t   more..

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b TOHOKU UNIVERSITY   (Japan)

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

^d INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^e KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^f HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g KITASATO UNIVERSITY   (Japan)

^h AKITA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

ⁱ Tsuruga City Hospital   (Japan)

^j TOTTORI PREFECTURAL CENTRAL HOSPITAL   (Japan)

^k WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^l UNIVERSITY OF ADELAIDE   (Australia)

^m SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

ⁿ OCHANOMIZU UNIVERSITY   (Japan)

^o KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^p WAKAYAMA MEDICAL UNIVERSITY   (Japan)

^q JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^r NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

^s TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^t NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; CBL PROTEIN; COMPLEMENTARY DNA; LUCIFERASE; MESSENGER RNA; MITOGEN ACTIVATED PROTEIN KINASE; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAS PROTEIN; RIT1 PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CARCINOGENESIS; CELL MOTION; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; EXOME; FACIES; GAIN OF FUNCTION MUTATION; GENE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INCIDENCE; JUVENILE MYELOMONOCYTIC LEUKEMIA; MISSENSE MUTATION; MORPHOLOGY; NONHUMAN; NOONAN SYNDROME; PRIORITY JOURNAL; SHORT STATURE; TELENCEPHALON; TRANSACTIVATION; ZEBRA FISH;

ANIMALS; CARDIOMYOPATHY, HYPERTROPHIC; CHILD, PRESCHOOL; EMBRYO, NONMAMMALIAN; ETS-DOMAIN PROTEIN ELK-1; FEMALE; GERM-LINE MUTATION; HETEROZYGOTE DETECTION; HUMANS; INCIDENCE; INFANT; MALE; MAP KINASE SIGNALING SYSTEM; MICE; MUSCLE SPINDLES; MUTATION RATE; MUTATION, MISSENSE; NIH 3T3 CELLS; NOONAN SYNDROME; RAS PROTEINS; RNA, MESSENGER; TRANSCRIPTIONAL ACTIVATION; ZEBRAFISH;

DANIO RERIO;

EID: 84880311756     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.05.021     Document Type: Article

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