How do Shp2 mutations that oppositely influence its biochemical activity result in syndromes with overlapping symptoms?

Cellular and Molecular Life Sciences

Volumn 64, Issue 13, 2007, Pages 1585-1590

  Edouard, T ^a   Montagner, A ^a   Dance, M ^a   Conte, F ^a   Yart, A ^a   Parfait, B ^a   Tauber, M ^a   Salles, J P ^a   Raynal, P ^a  

^a INSERM   (France)

Author keywords

Gab1; LEOPARD syndrome; Noonan syndrome; PTPN11; Ras; SHP 2

Indexed keywords

CYTOKINE; MITOGEN ACTIVATED PROTEIN KINASE; NEUROFIBROMIN; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAS PROTEIN;

COSTELLO SYNDROME; DEVELOPMENTAL DISORDER; ENZYME ACTIVATION; ENZYME ACTIVITY; GENE MUTATION; HUMAN; JUVENILE MYELOMONOCYTIC LEUKEMIA; LEOPARD SYNDROME; MOLECULAR INTERACTION; NEUROFIBROMATOSIS; NOONAN SYNDROME; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; REGULATORY MECHANISM; SHORT SURVEY; SIGNAL TRANSDUCTION;

ABNORMALITIES, MULTIPLE; ANIMALS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MUTATION; PROTEIN-TYROSINE-PHOSPHATASE; SYNDROME;

EID: 34447120824     PISSN: 1420682X     EISSN: 15691632     Source Type: Journal    
DOI: 10.1007/s00018-007-6509-0     Document Type: Short Survey

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