Associated Papers
Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.
Seidizadeh O et al.
Scientific Reports, 2026
Genetic variants, thrombocytopenia, and clinical phenotype of type 2B von Willebrand disease: a median 16-year follow-up study.
van Kwawegen CB et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Conformation-specific RNA aptamers for phenotypic distinction between normal von Willebrand factor and type 2B von Willebrand disease.
Machha VR et al.
Nar Molecular Medicine, 2024
Stoichiometry and architecture of the platelet membrane complex glycoprotein Ib-IX-V.
Lu J et al.
Biological Chemistry, 2024
Thermodynamic stabilization of von Willebrand factor A1 domain induces protein loss of function.
Sandoval-Pérez A et al.
Proteins, 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
Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Seidizadeh O et al.
Blood Advances, 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
The N-terminal autoinhibitory module of the A1 domain in von Willebrand factor stabilizes the mechanosensor catch bond.
Zhao YC et al.
Rsc Chemical Biology, 2022
Osteoprotegerin modulates platelet adhesion to von Willebrand factor during release from endothelial cells.
Wohner N et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Relevance of platelet desialylation and thrombocytopenia in type 2B von Willebrand disease: preclinical and clinical evidence.
Dupont A et al.
Haematologica, 2019
Analytical characterization and reference interval of an enzyme-linked immunosorbent assay for active von Willebrand factor.
van der Vorm LN et al.
Plos One, 2019
von Willebrand factor clearance - biological mechanisms and clinical significance.
O'Sullivan JM et al.
British Journal of Haematology, 2018
Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.
Pérez-Rodríguez A et al.
Plos One, 2018
Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test.
Michiels JJ et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2017
Type 2B von Willebrand Disease: An Unusual Cause of Severe Neonatal Thrombocytopenia.
Rotz SJ et al.
Journal of Pediatric Hematology/oncology, 2017
Enhanced Local Disorder in a Clinically Elusive von Willebrand Factor Provokes High-Affinity Platelet Clumping.
Tischer A et al.
Journal of Molecular Biology, 2017
The Von Willebrand Factor A1-Collagen III Interaction Is Independent of Conformation and Type 2 Von Willebrand Disease Phenotype.
Machha VR et al.
Journal of Molecular Biology, 2017
Biophysical approaches promote advances in the understanding of von Willebrand factor processing and function.
Löf A et al.
Advances in Biological Regulation, 2017
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
Data on the purification and crystallization of the loss-of-function von Willebrand disease variant (p.Gly1324Ser) of the von Willebrand factor A1 domain.
Campbell JC et al.
Data in Brief, 2016
A genetically-engineered von Willebrand disease type 2B mouse model displays defects in hemostasis and inflammation.
Adam F et al.
Scientific Reports, 2016
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
Mutational Constraints on Local Unfolding Inhibit the Rheological Adaptation of von Willebrand Factor.
Tischer A et al.
The Journal of Biological Chemistry, 2016
The spectrum of mutations in Southern Spanish patients with von Willebrand disease.
Álvarez-Laderas I et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015
Shear stress-independent binding of von Willebrand factor-type 2B mutants p.R1306Q & p.V1316M to LRP1 explains their increased clearance.
Wohner N et al.
Journal of Thrombosis and Haemostasis : Jth, 2015
Exploiting the kinetic interplay between GPIbα-VWF binding interfaces to regulate hemostasis and thrombosis.
Chen J et al.
Blood, 2014
Misfolding of vWF to pathologically disordered conformations impacts the severity of von Willebrand disease.
Tischer A et al.
Biophysical Journal, 2014
Expression of a structurally constrained von Willebrand factor variant triggers acute thrombotic thrombocytopenic purpura in mice.
Morioka Y et al.
Blood, 2014
An update on type 2B von Willebrand disease.
Mikhail S et al.
Expert Review of Hematology, 2014
Structural basis of regulation of von Willebrand factor binding to glycoprotein Ib.
Blenner MA et al.
The Journal of Biological Chemistry, 2014
Factor VIII concentrate infusion in patients with haemophilia results in decreased von Willebrand factor and ADAMTS-13 activity.
van Bladel ER et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014
Accelerated uptake of VWF/platelet complexes in macrophages contributes to VWD type 2B-associated thrombocytopenia.
Casari C et al.
Blood, 2013
Clearance of von Willebrand factor.
Casari C et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
Von Willebrand Factor Abnormalities Studied in the Mouse Model: What We Learned about VWF Functions.
Casari C et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2013
Indications for a protective function of beta2-glycoprotein I in thrombotic thrombocytopenic purpura.
Du VX et al.
British Journal of Haematology, 2012
Factor VIII and platelets synergistically accelerate cleavage of von Willebrand factor by ADAMTS13 under fluid shear stress.
Skipwith CG et al.
The Journal of Biological Chemistry, 2010
The mechanism of VWF-mediated platelet GPIbalpha binding.
Auton M et al.
Biophysical Journal, 2010
Mutation and ADAMTS13-dependent modulation of disease severity in a mouse model for von Willebrand disease type 2B.
Rayes J et al.
Blood, 2010
Changes in thermodynamic stability of von Willebrand factor differentially affect the force-dependent binding to platelet GPIbalpha.
Auton M et al.
Biophysical Journal, 2009
Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients.
Federici AB et al.
Blood, 2009
Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.
Gadisseur A et al.
Acta Haematologica, 2009
Platelet adhesion: a game of catch and release.
Andrews RK et al.
The Journal of Clinical Investigation, 2008
Platelet glycoprotein Ibalpha forms catch bonds with human WT vWF but not with type 2B von Willebrand disease vWF.
Yago T et al.
The Journal of Clinical Investigation, 2008
Management of inherited von Willebrand disease in 2007.
Federici AB et al.
Annals of Medicine, 2007