Associated Papers
Characterization of Novel Variants in P2YRY12, GP6 and TBXAS1 in Patients with Lifelong History of Bleeding.
Zamora-Cánovas A et al.
Biomolecules, 2025
41463295 (PubMed )
Supplement: biomolecules-15-01639-s001.zip › biomolecules-3972089-supplementary.pdf
Molecular Pathogenesis of Inherited Platelet Dysfunction.
Rodríguez-Alén A et al.
Biomolecules, 2025
Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.
Nurden P et al.
Haematologica, 2021
Receptor homodimerization plays a critical role in a novel dominant negative P2RY12 variant identified in a family with severe bleeding.
Mundell SJ et al.
Journal of Thrombosis and Haemostasis : Jth, 2018
P2Y₁₂ receptor gene mutations associated with bleeding.
Scavone M et al.
Platelets, 2017
Inherited dysfunctional platelet P2Y12 receptor mutations associated with bleeding disorders.
Lecchi A et al.
Hamostaseologie, 2016
Identification of a new dysfunctional platelet P2Y12 receptor variant associated with bleeding diathesis.
Lecchi A et al.
Blood, 2015
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP
Molecular defects of the platelet P2 receptors.
Cattaneo M
Purinergic Signalling, 2011
Advances in our understanding of the molecular basis of disorders of platelet function.
Nurden A et al.
Journal of Thrombosis and Haemostasis : Jth, 2011
Architecture of P2Y nucleotide receptors: structural comparison based on sequence analysis, mutagenesis, and homology modeling.
Costanzi S et al.
Journal of Medicinal Chemistry, 2004
Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding.
Cattaneo M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2003
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