PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects

Journal of Biological Chemistry

Volumn 281, Issue 10, 2006, Pages 6785-6792

  Kontaridis, Maria I ^a   Swanson, Kenneth D ^a   David, Frank S ^a,b   Barford, David ^c   Neel, Benjamin G ^a  

^a BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c INSTITUTE OF CANCER RESEARCH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CELLS; ELECTROCARDIOGRAPHY; ENZYMES; GENETIC ENGINEERING; MOLECULAR BIOLOGY;

MITOGEN; MUTATIONS; NOONAN SYNDROME (NS); PHOSPHATASE;

MUTAGENESIS;

MITOGEN ACTIVATED PROTEIN KINASE; PROTEIN TYROSINE PHOSPHATASE; PROTEIN TYROSINE PHOSPHATASE SHP 2; GAB1 PROTEIN, HUMAN; PHOSPHOPROTEIN; SIGNAL PEPTIDE; SIGNAL TRANSDUCING ADAPTOR PROTEIN; SRC HOMOLOGY 2 (SH2) DOMAIN CONTAINING PHOSPHATASES; SRC HOMOLOGY-2 (SH2) DOMAIN-CONTAINING PHOSPHATASES;

ALLELE; ARTICLE; CATALYSIS; CELL DIFFERENTIATION; CELL MIGRATION; CLINICAL FEATURE; DISEASE COURSE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; LEOPARD SYNDROME; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NOONAN SYNDROME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN STRUCTURE; SIGNAL TRANSDUCTION; CELL LINE; DRUG ANTAGONISM; ENZYME ACTIVE SITE; ENZYMOLOGY; GENE SILENCING; GENETICS; METABOLISM; PROTEIN TERTIARY STRUCTURE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CATALYTIC DOMAIN; CELL LINE; GENE SILENCING; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LEOPARD SYNDROME; MUTATION, MISSENSE; NOONAN SYNDROME; PHOSPHOPROTEINS; PROTEIN STRUCTURE, TERTIARY; PROTEIN-TYROSINE-PHOSPHATASE;

EID: 33646096207     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M513068200     Document Type: Article

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