Associated Papers
Platelet-Type von Willebrand Disease: Complex Pathophysiology and Insights on Novel Therapeutic and Diagnostic Strategies.
Fu A et al.
Seminars in Thrombosis and Hemostasis, 2025
A new case of platelet-type von Willebrand disease supports the recent findings of gain-of-function GP1BA variants outside the C-terminal disulphide loop enhances affinity for von Willebrand factor.
Monteiro C et al.
British Journal of Haematology, 2023
A p.Arg127Gln variant in GPIbα LRR5 allosterically enhances affinity for VWF: a novel form of platelet-type VWD.
Bury L et al.
Blood Advances, 2022
Regulation of platelet numbers and sizes by signaling pathways.
Pawinwongchai J et al.
Platelets, 2021
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL
Evolutionary coupling analysis identifies the impact of disease-associated variants at less-conserved sites.
Kim D et al.
Nucleic Acids Research, 2019
Platelet function assays in diagnosis: an update.
Gresele P et al.
Expert Review of Hematology, 2019
A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome.
Trizuljak J et al.
Platelets, 2018
A novel platelet-type von Willebrand disease mutation (GP1BA p.Met255Ile) associated with type 2B "Malmö/New York" von Willebrand disease.
Lavenu-Bombled C et al.
Thrombosis and Haemostasis, 2016
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