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• W2742133020 abstract "Seven mouse pigment mutants. which have alterations at distinct genes, are known to have a defect in kidney lysosomal enzyme secretion.Twoof these, beige1 and pale ear.2 have a bleeding abnormality associated with a deficiency in the number of platelet dense granules. In the present study. five other mutants with defective lysosomal enzyme secretion-pearl. pallid. light ear. maroon. and ruby-eye-were likewise found to have abnormally prolonged bleeding times after experimental injury. Platelet counts were similar to those of normal mice. but the platelet dense granule components serotonin. adenosine triphosphate (ATP). and adenosine diphosphate (ADP) and morphologically identifiable dense granules were markedly S EVERAL AUTOSOMAL recessive bleeding disorders in humans that affect platelet dense granule function are known.3� Among these are storage pool disease (SPD),7 including Chediak-Higashi syndrome (CHS)8 ‘#{176} and Hermansky-Pudlak syndrome (H PS),” Wiskott-Aldrich � and thrombocytopenia absent Radii syndrome.’3 In two diseases (CHS and HPS) the bleeding disorder is accompanied by a dilution in pigmentation. SPD is characterized by a prolonged bleeding time accompanied by normal platelet counts, decreased platelet dense granule contents and function, and a reduced number of platelet dense granules.7 Patients with storage pool deficiency often have abnormal structure and/or function of other subcellular organelles, including melanosomes in CHS’4 and HPS,” in which patients are tyrosinase-positive albinos, lysosomes in CHS’#{176} and HPS,” and platelet a granules.’5 Weiss and coworkers have recently subclassified SPD based on the relative contents of dense granules and alpha granules.’5 The subclassifications include patients defective in only one, both, or varying degrees of both organdIes. These subclassifications are inter" @default.
• W2742133020 created "2017-08-08" @default.
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• W2742133020 date "2017-01-01" @default.
• W2742133020 modified "2023-09-27" @default.
• W2742133020 title "in Mouse Pigment Mutations Associated With Seven Distinct Genetic Loci" @default.
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