UNASSIGNED: Genetic variations in @entity42659 ( @entity42659 ) genes can disrupt receptor function in a wide variety of @entity1 @entity74 , including platelet @entity3459 . Platelets are critical for haemostasis with inappropriate platelet activation leading to the development of @entity715 , which can result in @entity299 and @entity64 whilst decreased platelet activity is associated with an increased risk of @entity548 . GPCRs expressed on the surface of platelets play key roles in regulating platelet activity and therefore function. Receptors include purinergic receptors ( @entity15094 and @entity3075 ), proteinase-activated receptor ( @entity8781 and @entity21648 ) and @entity2871 receptors (TPa), among others. Pharmacological blockade of these receptors forms a powerful therapeutic tool in the treatment and prevention of @entity715 . With the advance of genomic technologies, there has been a substantial increase in the identification of naturally occurring rare and common @entity42659 variants. These variants include single-nucleotide polymorphisms (SNPs) and insertion or deletions that have the potential to alter @entity42659 expression or function. A number of defects in platelet GPCRs that disrupt receptor function have now been characterized in @entity1 with mild @entity3459 . This review will focus on rare, function-disrupting variants of platelet GPCRs with particular emphasis upon mutations in the @entity3075 receptor gene that affect receptor traffic to modulate platelet function. Further this review will outline how the identification and characterization of function-disrupting @entity42659 mutations provides an essential link in translating our detailed understanding of receptor traffic and function in cell line studies into relevant @entity1 biological systems.

Pathophysiological consequences of receptor mistraffic: Tales from the platelet XXXX receptor.

@entity1 :: ('9606', 'Species') :: ['human', 'patients'] @entity2871 :: ('CHEBI:26995', 'Chemical') :: ['thromboxane'] @entity64 :: ('MESH:D020521', 'Disease') :: ['stroke'] @entity548 :: ('MESH:D006470', 'Disease') :: ['bleeding'] @entity15094 :: ('5028', 'Gene') :: ['P2Y1'] @entity3459 :: ('MESH:D025861', 'Disease') :: ['bleeding disorders'] @entity21648 :: ('9002', 'Gene') :: ['PAR4'] @entity74 :: ('MESH:D030342', 'Disease') :: ['genetic diseases'] @entity299 :: ('MESH:D006331', 'Disease') :: ['heart attack'] @entity715 :: ('MESH:D013927', 'Disease') :: ['arterial thrombosis'] @entity3075 :: ('64805', 'Gene') :: ['P2Y12'] @entity42659 :: ('9170', 'Gene') :: ['G protein-coupled receptor', 'GPCR'] @entity8781 :: ('2149', 'Gene') :: ['PAR1']
@entity3075 :: (64805,Gene) :: ['P2Y12']
