Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back

American Journal of Medical Genetics, Part A

Volumn 152, Issue 1, 2010, Pages 4-24

  Rauen, Katherine A ^a   Schoyer, Lisa ^b   McCormick, Frank ^a   Lin, Angela E ^c   Allanson, Judith E ^d   Stevenson, David A ^e   Gripp, Karen W ^f   Neri, Giovanni ^g   Carey, John C ^e   Legius, Eric ^h   Tartaglia, Marco ⁱ   Schubbert, Suzanne ^j   Roberts, Amy E ^k   Gelb, Bruce D ^l   Shannon, Kevin ^a   Gutmann, David H ^m   McMahon, Martin ^a   Guerra, Carmen ⁿ   Fagin, James A ^o   Yu, Benjamin ^p   Aoki, Yoko ^q   Neel, Benjamin G ^r   Balmain, Allan ^a   Drake, Richard R ^s   Nolan, Garry P ^t   Zenker, Martin ^u   Bollag, Gideon ^v   Sebolt Leopold, Judith ^w   Gibbs, Jackson B ^x   Silva, Alcino J ^j   Patton, E Elizabeth ^y   Viskochil, David H ^e   Kieran, Mark W ^z   Korf, Bruce R ^aa   Hagerman, Randi J ^ab   Packer, Roger J ^ac   Melese, Teri ^a   more..

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Costello Syndrome Family Network ^*  (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^e UNIVERSITY OF UTAH   (United States)

^f NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^g CATHOLIC UNIVERSITY   (Italy)

^h UNIVERSITY OF LEUVEN   (Belgium)

ⁱ ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^j UNIVERSITY OF CALIFORNIA   (United States)

^k BOSTON CHILDREN S HOSPITAL   (United States)

^l MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^m WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁿ Centro Nacional de Investigaciones Oncológicas   (Spain)

^o MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^p UNIVERSITY OF CALIFORNIA   (United States)

^q TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^r PRINCESS MARGARET HOSPITAL   (Canada)

^s EASTERN VIRGINIA MEDICAL SCHOOL   (United States)

^t STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^u UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^v PLEXXIKON INC   (United States)

^w Oncovera Therapeutics   (United States)

^x ASTRAZENECA   (United Kingdom)

^y Edinburgh Cancer Research Centre   (United Kingdom)

^z DANA FARBER CANCER INSTITUTE   (United States)

^aa UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^ab UNIVERSITY OF CALIFORNIA   (United States)

^ac CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

more..

Author keywords

Cardio facio cutaneous syndrome; Clinical trial; Costello syndrome; Legius syndrome; Neurofibromatosis type 1; Noonan syndrome; Ras MAPK; RASopathy; Signal transduction pathway; Therapy

Indexed keywords

MINOCYCLINE; MITOGEN ACTIVATED PROTEIN KINASE; NEUROFIBROMIN; RAS PROTEIN; SORAFENIB; B RAF KINASE; GUANINE NUCLEOTIDE EXCHANGE FACTOR; GUANOSINE DIPHOSPHATE; GUANOSINE TRIPHOSPHATASE; MITOGEN ACTIVATED PROTEIN KINASE KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE KINASE 2; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAF PROTEIN; SOS PROTEIN; SPROUTY PROTEIN;

ARTICLE; ATTENTION DEFICIT DISORDER; BLOOD CLOTTING DISORDER; CAFE AU LAIT SPOT; CANCER SUSCEPTIBILITY; CARDIO FACIO CUTANEOUS SYNDROME; COSTELLO SYNDROME; CRANIOFACIAL MALFORMATION; CRYPTORCHISM; FRAGILE X SYNDROME; FUNNEL CHEST; GASTROINTESTINAL DISEASE; GENE ACTIVATION; GENE INACTIVATION; GENE MUTATION; GENETIC DISORDER; HEART DISEASE; HEMANGIOMA; HUMAN; HYDRAMNIOS; HYPERKERATOSIS; HYPERTROPHIC CARDIOMYOPATHY; LANGUAGE DISABILITY; LEOPARD SYNDROME; LIVER CELL CARCINOMA; LUNG DYSPLASIA; MACROCEPHALY; MEDICAL RESEARCH; MORPHOLOGICAL TRAIT; MUSCLE HYPOTONIA; MUSCULOSKELETAL SYSTEM MALFORMATION; NEUROFIBROMATOSIS; NOONAN SYNDROME; PATHOGENESIS; PHENOTYPE; PIGEON THORAX; PREMATURE LABOR; PRIORITY JOURNAL; PTOSIS; RASOPATHY; RHABDOMYOSARCOMA; SHORT STATURE; SIGNAL TRANSDUCTION; SKIN DEFECT; SUPRAVENTRICULAR TACHYCARDIA; THORAX DEFORMITY; WEBBED NECK; ACHILLES TENDON; AUTOSOMAL DOMINANT DISORDER; CARDIOFACIOCUTANEOUS SYNDROME; CONFERENCE PAPER; COPY NUMBER VARIATION; DISEASE PREDISPOSITION; EXON; GENE LOCUS; GENETIC ENGINEERING; HETEROZYGOSITY; MISSENSE MUTATION; NONHUMAN; OPTIC NERVE GLIOMA; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEOMICS; QUANTITATIVE TRAIT LOCUS;

HUMANS; MAP KINASE SIGNALING SYSTEM; RAS PROTEINS; SYNDROME;

EID: 75149112680     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33183     Document Type: Article

References (3)

1. Hennekam RC. 2007. What to call a syndrome. Am J Med Genet Part A 143A:1021-1024.
2. Robin NH, Biesecker LG. 2001. Considerations for a multiaxis nomenclature system for medical genetics. Genet Med 3:290-293.
3. Tidyman WE, Rauen KA. 2009. The RASopathies: Developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev 19:230-236.