A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the αIIbβ 3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia

Blood

Volumn 111, Issue 7, 2008, Pages 3407-3414

  Ghevaert, Cedric ^a,b   Salsmann, Alexandre ^c   Watkins, Nicholas A ^a,b   Schaffner Reckinger, Elisabeth ^c   Rankin, Angela ^a   Garner, Stephen F ^a,b   Stephens, Jonathan ^a   Smith, Graham A ^b   Debili, Najet ^d   Vainchenker, William ^d   De Groot, Philip G ^e   Huntington, James A ^a   Laffan, Mike ^f   Kieffer, Nelly ^c   Ouwehand, Willem H ^a,b  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b NHS BLOOD AND TRANSPLANT   (United Kingdom)

^c CNRS   (France)

^d INSTITUT GUSTAVE ROUSSY   (France)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA2B BETA3 INTEGRIN; BETA3 INTEGRIN; DUAL SPECIFICITY PHOSPHATASE 2; FIBRINOGEN; GLYCOPROTEIN IB ALPHA; INTEGRIN; THROMBOPOIETIN; UNCLASSIFIED DRUG; VON WILLEBRAND FACTOR; FIBRINOGEN RECEPTOR; ITGB3 PROTEIN, HUMAN; THROMBIN RECEPTOR;

ADULT; ARTICLE; CASE REPORT; CD34 SELECTION; CHO CELL; COMPLEX FORMATION; CYTOPLASM; FEMALE; FLOW CYTOMETRY; GENE; GENE DISRUPTION; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; ITGB3 GENE; MEGAKARYOCYTE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA ANALYSIS; SHEAR STRESS; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTOPENIA; THROMBOCYTOPOIESIS; WILD TYPE; ANIMAL; CRICETULUS; GENE EXPRESSION; GENETICS; HAMSTER; MALE; METABOLISM; MISSENSE MUTATION; PATHOLOGY; PROTEIN BINDING; THROMBOCYTE;

ADULT; ANIMALS; BLOOD PLATELETS; CHO CELLS; CRICETINAE; CRICETULUS; FEMALE; FIBRINOGEN; GENE EXPRESSION; HUMANS; INTEGRIN BETA3; MALE; MEGAKARYOCYTES; MUTATION, MISSENSE; PEDIGREE; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN BINDING; THROMBOCYTOPENIA; TRANSFECTION; VON WILLEBRAND FACTOR;

EID: 43549096235     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2007-09-112615     Document Type: Article

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