Associated Papers
Von Willebrand disease: classification and epidemiology.
Castaman G et al.
Haematologica, 2026
Molecular genetic testing in von Willebrand disease: past, present, and beyond.
Seidizadeh O et al.
Haematologica, 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
Von Willebrand factor and von Willebrand disease in ageing: mechanisms, evolving phenotypes, and clinical implications.
Seidizadeh O et al.
The Lancet. Haematology, 2025
A Review of Desmopressin Use in Bleeding Disorders: An Unsung Hero?
Reardon B et al.
Biomolecules, 2025
Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Von Willebrand disease (VWD) and pregnancy: a comprehensive overview.
Soleimani Samarkhazan H et al.
Thrombosis Journal, 2025
A fully humanized von Willebrand disease type 1 mouse model as unique platform to investigate novel therapeutic options.
McCluskey G et al.
Haematologica, 2025
Challenges and considerations of genetic testing in von Willebrand disease.
Seidizadeh O et al.
Research and Practice in Thrombosis and Haemostasis, 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
Keep it positive: loss of positive charge induced by R1205H von Willebrand factor change accelerates von Willebrand factor clearance through enhanced binding to macrophage clearance receptors LRP1 and SR-A1.
Castaman G
Journal of Thrombosis and Haemostasis : Jth, 2024
Application of genetic testing for the diagnosis of von Willebrand disease.
Seidizadeh O et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Variant mapping using mass spectrometry-based proteotyping as a diagnostic tool in von Willebrand disease.
Kreft IC et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
The common VWF variant p.Y1584C: detailed pathogenic examination of an enigmatic sequence change.
Christopherson PA 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
The landscape of tolerated genetic variation in humans and primates.
Gao H et al.
Biorxiv : the Preprint Server for Biology, 2023
A nanobody against the VWF A3 domain detects ADAMTS13-induced proteolysis in congenital and acquired VWD.
Kizlik-Masson C et al.
Blood, 2023
Enhanced VWF clearance in low VWF pathogenesis: limitations of the VWFpp/VWF:Ag ratio and clinical significance.
Doherty D et al.
Blood Advances, 2023
Low von Willebrand Disease: A Bleeding Disorder of Unknown Cause?
O'Donnell JS et al.
Hamostaseologie, 2023
Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease.
Atiq F et al.
Blood Advances, 2022
The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: Clinical phenotype and pathogenic mechanisms.
Sacco M et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
Laboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis.
Kalot MA et al.
Blood Advances, 2022
Von Willebrand factor and disease: a review for laboratory professionals.
Harris NS et al.
Critical Reviews in Clinical Laboratory Sciences, 2022
Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in Phenotype.
Atiq F et al.
Hemasphere, 2022
Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease.
Lapić I et al.
Croatian Medical Journal, 2022
Single-cell transcriptional analysis of human endothelial colony-forming cells from patients with low VWF levels.
Ng CJ et al.
Blood, 2022
Sialylation on O-linked glycans protects von Willebrand factor from macrophage galactose lectin-mediated clearance.
Ward SE et al.
Haematologica, 2022
Von Willebrand disease type Vicenza: In search of a classification for the archetype of reduced von Willebrand factor survival.
Casonato A et al.
Ejhaem, 2021
Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.
Gindele R et al.
Life (basel, Switzerland), 2021
Von Willebrand Factor Multimer Densitometric Analysis: Validation of the Clinical Accuracy and Clinical Implications in Von Willebrand Disease.
Boender J et al.
Hemasphere, 2021
Toward Personalized Treatment for Patients with Low von Willebrand Factor and Quantitative von Willebrand Disease.
O'Donnell JS
Seminars in Thrombosis and Hemostasis, 2021
Functional Roles of the von Willebrand Factor Propeptide.
Rawley O et al.
Hamostaseologie, 2021
Comparison of von Willebrand factor platelet-binding activity assays: ELISA overreads type 2B with loss of HMW multimers.
Szederjesi A et al.
Journal of Thrombosis and Haemostasis : Jth, 2020
Improving diagnosis of von Willebrand disease: Reference ranges for von Willebrand factor multimer distribution.
Vangenechten I et al.
Research and Practice in Thrombosis and Haemostasis, 2020
Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms.
Cartwright A et al.
Blood Advances, 2020
Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives.
Zolkova J et al.
Seminars in Thrombosis and Hemostasis, 2020
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
Molecular and clinical profile of type 2 von Willebrand disease in Iran: a thirteen-year experience.
Rassoulzadegan M et al.
International Journal of Hematology, 2020
The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3.
Yadegari H et al.
Hamostaseologie, 2020
The Von Willebrand Factor Antigen Plasma Concentration: a Monitoring Marker in the Treatment of Aortic and Mitral Valve Diseases.
Perrone MA et al.
Folia Biologica, 2020
Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses.
Kim HJ et al.
Annals of Laboratory Medicine, 2019
Pregnancy and delivery in women with von Willebrand disease.
Castaman G et al.
European Journal of Haematology, 2019
Analysis of von Willebrand Disease in the South Moravian Population (Czech Republic): Results from the BRNO-VWD Study.
Vangenechten I et al.
Thrombosis and Haemostasis, 2019
Evaluation of the Utility of von Willebrand Factor Propeptide in the Differential Diagnosis of von Willebrand Disease and Acquired von Willebrand Syndrome.
Stufano F et al.
Seminars in Thrombosis and Hemostasis, 2019