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
Systematic phenotype and genotype characterization of Moebius syndrome.
Webb BD et al.
Genetics in Medicine Open, 2025
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
In silico analysis of single nucleotide polymorphism (rs34377097) of TBXA2R gene and pollen induced bronchial asthma susceptibility in West Bengal population, India.
Ganai I et al.
Frontiers in Immunology, 2023
Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.
Nurden P et al.
Haematologica, 2021
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
Platelet dysfunction associated with the novel Trp29Cys thromboxane A₂ receptor variant.
Mumford AD et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 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
Advances in our understanding of the molecular basis of disorders of platelet function.
Nurden A et al.
Journal of Thrombosis and Haemostasis : Jth, 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
Human platelet pathology related to defects in the G-protein signaling cascade.
Van Geet C et al.
Journal of Thrombosis and Haemostasis : Jth, 2009
Clinical and laboratory phenotypes associated with the aspirin-like defect: a study in 17 unrelated families.
Rolf N et al.
British Journal of Haematology, 2009
G protein-coupled receptor pharmacogenetics.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
Japanese single nucleotide polymorphism database for 267 possible drug-related genes.
Iida A et al.
Cancer Science, 2006
Oligomerization of the alpha and beta isoforms of the thromboxane A2 receptor: relevance to receptor signaling and endocytosis.
Laroche G et al.
Cellular Signalling, 2005
Structural and functional characterization of the first intracellular loop of human thromboxane A2 receptor.
Geng L et al.
Archives of Biochemistry and Biophysics, 2004
[SNP collection, pharmacogenomics, and the future of drug therapy].
Iida A et al.
Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2002
The influence of platelet glycoprotein polymorphisms on receptor function and risk for thrombosis.
Kunicki TJ et al.
Vox Sanguinis, 2002
Association studies of 33 single nucleotide polymorphisms (SNPs) in 29 candidate genes for bronchial asthma: positive association a T924C polymorphism in the thromboxane A2 receptor gene.
Unoki M et al.
Human Genetics, 2000
Two thromboxane A2 receptor isoforms in human platelets. Opposite coupling to adenylyl cyclase with different sensitivity to Arg60 to Leu mutation.
Hirata T et al.
The Journal of Clinical Investigation, 1996