Associated Papers
Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.
Seidizadeh O et al.
Scientific Reports, 2026
Natural variants of von Willebrand factor R1205 causing von Willebrand disease with accelerated von Willebrand factor clearance: In silico docking models and energetics of the interaction with both LRP1 and GpIb A1 domain.
Sacco M et al.
Plos Computational Biology, 2025
R1205H (Vicenza) causes conformational changes in the von Willebrand factor D'D3 domains and enhances von Willebrand factor binding to clearance receptors LRP1 and SR-AI.
Atiq F et al.
Journal of Thrombosis and Haemostasis : Jth, 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
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.
Seidizadeh O et al.
Npj Genomic Medicine, 2023
37845247 (PubMed )
Supplement: 41525_2023_375_MOESM1_ESM.pdf
Sialylation on O-linked glycans protects von Willebrand factor from macrophage galactose lectin-mediated clearance.
Ward SE et al.
Haematologica, 2022
Investigating the clearance of VWF A-domains using site-directed PEGylation and novel N-linked glycosylation.
Fazavana J et al.
Journal of Thrombosis and Haemostasis : Jth, 2020
The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3.
Yadegari H et al.
Hamostaseologie, 2020
A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.
Veyradier A et al.
Medicine, 2016
von Willebrand factor arginine 1205 substitution results in accelerated macrophage-dependent clearance in vivo.
Rawley O et al.
Journal of Thrombosis and Haemostasis : Jth, 2015
Vicenza deciphered: modeling the von Willebrand disease enigma: commentary on accelerated clearance alone explains ultralarge multimers in VWD Vicenza.
Goodeve AC
Journal of Thrombosis and Haemostasis : Jth, 2010
Reduced von Willebrand factor survival in von Willebrand disease: pathophysiologic and clinical relevance.
Castaman G et al.
Journal of Thrombosis and Haemostasis : Jth, 2009
Inherited and de novo von Willebrand disease 'Vicenza' in UK families with the R1205H mutation: diagnostic pitfalls and new insights.
Lester WA et al.
British Journal of Haematology, 2006
Genetic mutations in von Willebrand disease identified by DHPLC and DNA sequence analysis.
Kakela JK et al.
Molecular Genetics and Metabolism, 2006
Select a paper to view details