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What we have learned from inherited platelet disorders
Author(s) -
Israels Sara J.,
Rand Margaret L.
Publication year - 2012
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.24345
Subject(s) - platelet , phenotype , biogenesis , medicine , blood platelet disorders , platelet disorder , platelet activation , genome wide association study , gene , bioinformatics , function (biology) , genetic association , thrombosis , genotype , genetics , immunology , platelet aggregation , biology , single nucleotide polymorphism
Identifying the molecular basis of inherited platelet disorders has contributed to our understanding of normal platelet physiology. Many of these conditions are rare, but close observation of clinical and laboratory phenotype, and subsequent identification of the abnormal protein and mutated gene, have provided us with unique opportunities to examine specific aspects of platelet biogenesis and function. Phenotype–genotype association studies are providing a detailed understanding of the structure and function of platelet membrane receptors, the biogenesis and release of platelet granules, and the assembly of the cytoskeleton. Genetic polymorphisms contributing to decreased or increased platelet adhesion and activation may translate into increased clinical risks for bleeding or thrombosis. More recently, genome wide association studies have identified new genes contributing to the variation in normal platelet function. Pediatr Blood Cancer 2012; 60: S2–S7. © 2012 Wiley Periodicals, Inc.