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TBXA2R gene variants associated with bleeding

Research output: Contribution to journalArticle

Original languageEnglish
Pages (from-to)739-742
Number of pages4
JournalPlatelets
Volume29
Issue number7
Early online date8 Aug 2018
DOIs
DateAccepted/In press - 1 Jun 2018
DateE-pub ahead of print - 8 Aug 2018
DatePublished (current) - 3 Oct 2018

Abstract

Platelet activity is regulated by a number of surface expressed G protein-coupled receptors (GPCRs) including the α isoform of the thromboxane receptor (TPα receptor). With the advance of genomic technologies, there has been a substantial increase in the identification of naturally occurring rare GPCR variants including in the TBXA2R gene, which encodes the TPα receptor. The study of patients with naturally occurring variants within TBXA2R associated with bleeding and abnormal TPα receptor function has provided a powerful insight in defining the critical role of TPα in thrombus formation. This review will highlight how the identification of these function-disrupting variants of the platelet TPα has contributed important structure-function information about these GPCRs. Further we discuss the potential implications these findings have for understanding the molecular basis of mild platelet based bleeding disorders.

    Research areas

  • Bleeding, GPCR, structure–function, platelets, rare variants, thromboxane receptor TPα

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  • TP thromboxane variants review accepted

    Accepted author manuscript, 327 KB, PDF document

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    Rights statement: This is the final published version of the article (version of record). It first appeared online via Taylor and Francis at https://doi.org/10.1080/09537104.2018.1499888 . Please refer to any applicable terms of use of the publisher.

    Final published version, 710 KB, PDF document

    Licence: CC BY

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