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Qualitative disorders of platelets and megakaryocytes Nurden ATJ Thromb Haemost 2005[Aug]; 3 (8): 1773-82Qualitative disorders of platelet function and production form a large group of rare diseases which cover a multitude of genetic defects that by and large have as a common symptom, excessive mucocutaneous bleeding. Glanzmann thrombasthenia, is enabling us to learn much about the pathophysiology of integrins and of how alphaIIb beta3 functions. Bernard-Soulier syndrome, an example of macrothrombocytopenia, combines the production of large platelets with a deficit or non-functioning of the major adhesion receptor of platelets, the GPIb-IX-V complex. Amino acid substitutions in GPIb alpha, may lead to up-regulation and spontaneous binding of von Willebrand factor as in Platelet-type von Willebrand disease. In disorders with defects in the MYH9 gene, macrothrombocytopenias are linked to modifications in kidney, eye or ear, whereas other inherited thrombocytopenias variously link a low platelet count with a propensity to leukemia, skeletal defects, learning impairment, and abnormal red cells. Defects of secretion from platelets include an abnormal alpha-granule formation as in the gray platelet syndrome (with marrow myelofibrosis), and of organelle biogenesis in the Hermansky-Pudlak and Chediak-Higashi syndromes where platelet dense body defects are linked to abnormalities of other lysosomal-like organelles including melanosomes. Finally, defects involving surface receptors (P2Y(12), TPalpha) for activating stimuli, of proteins essential for signaling pathways (including Wiskott-Aldrich syndrome), and of platelet-derived procoagulant activity (Scott syndrome) show how studies on platelet disorders are helping unravel the pathways of primary hemostasis.|Bernard-Soulier Syndrome/blood[MESH]|Blood Platelet Disorders/*blood/*diagnosis[MESH]|Blood Platelets/metabolism[MESH]|Coagulants[MESH]|Genetic Therapy/methods[MESH]|Humans[MESH]|Integrins/metabolism[MESH]|Megakaryocytes/cytology/metabolism/*physiology[MESH]|Models, Biological[MESH]|Platelet Aggregation[MESH]|Protein Binding[MESH]|Signal Transduction[MESH]|Thrombasthenia/blood[MESH]|Thrombocytopenia/blood[MESH]|Up-Regulation[MESH]|von Willebrand Factor/metabolism[MESH] |
