ArticleThe Journal of clinical investigation1994
Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder.
Article in The Journal of clinical investigation, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 196 citations in OpenAlex.
- Trial
- New insights into flavonoid binding to the thromboxane ABlood vessels, thrombosis & hemostasis · 2026Article
- Insights into the Expression, Structure, and Function of the Thromboxane AACS pharmacology & translational science · 2025Review
- A Review of Prostanoid Receptors: Expression, Characterization, Regulation, and Mechanism of Action.Journal of cell communication and signaling · 2021Review
- Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.Haematologica · 2021Review
- The Role of ICL1 and H8 in Class B1 GPCRs; Implications for Receptor Activation.Frontiers in endocrinology · 2021Article
- Effect of Prostanoids on Human Platelet Function: An Overview.International journal of molecular sciences · 2020Review
- Strengths and Weaknesses of Light Transmission Aggregometry in Diagnosing Hereditary Platelet Function Disorders.Journal of clinical medicine · 2020Review
- Genetic classification and confirmation of inherited platelet disorders: current status in Korea.Clinical and experimental pediatrics · 2020Article
- TBXA2R gene variants associated with bleeding.Platelets · 2018Article
- Predicting G protein-coupled receptor downstream signaling by tissue expression.Bioinformatics (Oxford, England) · 2016Article
- Review
- Review
- Understanding the role of prostaglandin E2 in regulating human platelet activity in health and disease.Thrombosis research · 2015Review
- Rare platelet GPCR variants: what can we learn?British journal of pharmacology · 2015Review
- Chaperoning G protein-coupled receptors: from cell biology to therapeutics.Endocrine reviews · 2014Review
- Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?Clinical genetics · 2014Article
- Article
- Microfluidic assay of platelet deposition on collagen by perfusion of whole blood from healthy individuals taking aspirin.Clinical chemistry · 2013Article
- New insights into structural determinants for prostanoid thromboxane A2 receptor- and prostacyclin receptor-G protein coupling.Molecular and cellular biology · 2013Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent advances in molecular genetics have revealed the mechanisms underlying a variety of inherited human disorders. Among them, mutations in G protein-coupled receptors have clearly demonstrated two types of abnormalities, namely loss of function and constitutive activation of the receptors. Thromboxane A2 (TXA2) receptor is a member of the family of G protein-coupled receptors and performs an essential role in hemostasis by interacting with TXA2 to induce platelet aggregation. Here we identify a single amino acid substitution (Arg60-->Leu) in the first cytoplasmic loop of the TXA2 receptor in a dominantly inherited bleeding disorder characterized by defective platelet response to TXA2. This mutation was found exclusively in affected members of two unrelated families with the disorder. The mutant receptor expressed in Chinese hamster ovary cells showed decreased agonist-induced second messenger formation despite its normal ligand binding affinities. These results suggest that the Arg60 to Leu mutation is responsible for the disorder. Moreover, dominant inheritance of the disorder suggests the possibility that the mutation produces a dominant negative TXA2 receptor.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.