title: Genetic basis of congenital platelet disorders.
abstract: Over the past 4 decades, a better understanding of the genetic origins of inherited platelet disorders has illuminated avenues of investigation in megakaryopoiesis and has identified targets of pharmacologic intervention. Many of these discoveries have been translated into clinical medicine. The success of inherited platelet disorder research is underpinned by broader advances in methodology through the biochemical and molecular revolution of the 20(th) and 21(st) centuries, respectively. Recently, modern genomics techniques have affected platelet and platelet disorders research, allowing for the discovery of several genes involved in platelet production and function and for a deeper understanding of the RNA and miRNA networks that govern platelet function. In this short review, we focus on recent developments in the genetic elucidation of several disorders of platelet number and in the molecular architecture that determines the "genetic makeup" of a platelet in health and disease.
authors.affiliation: Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO.
authors.forename: Jesse
authors.initials: J
authors.lastname: Hinckley
authors.affiliation: Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO.
authors.forename: Jorge
authors.initials: J
authors.lastname: Di Paola
mesh_terms: D001791:Blood Platelet Disorders / Q000145:classification / Q000151:congenital* / Q000235:genetics* / Q000266:history; D020022:Genetic Predisposition to Disease; D036281:Genetic Research; D049673:History, 20th Century; D006801:Humans