Associated Papers
The Co-Occurrence of Low-Frequency Pathogenic Variants in TBXA2R Exacerbating the Hemorrhagic Symptoms in Siblings with Hemophilia B.
Shimomura M et al.
Seminars in Thrombosis and Hemostasis, 2026
Molecular Pathogenesis of Inherited Platelet Dysfunction.
Rodríguez-Alén A et al.
Biomolecules, 2025
Population based frequency of naturally occurring loss-of-function variants in genes associated with platelet disorders.
Oved JH et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Platelet dysfunction caused by a novel thromboxane A2 receptor mutation and congenital thrombocytopenia in a case of mild bleeding.
Bugert P et al.
Platelets, 2020
New single-nucleotide polymorphisms associated with differences in platelet reactivity and their influence on survival in patients with type 2 diabetes treated with acetylsalicylic acid: an observational study.
Milanowski L et al.
Acta Diabetologica, 2017
Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders.
Leo VC et al.
Journal of Thrombosis and Haemostasis : Jth, 2015
Thromboxane A2 receptor polymorphism in association with cerebral infarction and its regulation on platelet function.
Shao J et al.
Current Neurovascular Research, 2015
Identification and Characterization of Novel Variations in Platelet G-Protein Coupled Receptor (GPCR) Genes in Patients Historically Diagnosed with Type 1 von Willebrand Disease.
Stockley J et al.
Plos One, 2015
A novel thromboxane A2 receptor N42S variant results in reduced surface expression and platelet dysfunction.
Nisar SP et al.
Thrombosis and Haemostasis, 2014
Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?
Nowaczyk MJ et al.
Clinical Genetics, 2014
Platelet dysfunction associated with the novel Trp29Cys thromboxane A₂ receptor variant.
Mumford AD et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
Human thromboxane A2 receptor genetic variants: in silico, in vitro and "in platelet" analysis.
Gleim S et al.
Plos One, 2013
Site-directed mutations and the polymorphic variant Ala160Thr in the human thromboxane receptor uncover a structural role for transmembrane helix 4.
Chakraborty R et al.
Plos One, 2012
Inherited platelet disorders: a clinical approach to diagnosis and management.
Cox K et al.
Expert Review of Hematology, 2011
Bleeding tendency and impaired platelet function in a patient carrying a heterozygous mutation in the thromboxane A2 receptor.
Kamae T et al.
Journal of Thrombosis and Haemostasis : Jth, 2011
A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis.
Mumford AD et al.
Blood, 2010
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