Associated Papers
Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.
Seidizadeh O et al.
Scientific Reports, 2026
Correction of VWF multimerization in type 2A/IIC von Willebrand disease by exogenous VWF propeptide supplementation.
Zhang Z et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
A noncanonical splicing variant c.875-5 T > G in von Willebrand factor causes in-frame exon skipping and type 2A von Willebrand disease.
Liang Q et al.
Thrombosis Research, 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
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.
Seidizadeh O et al.
Npj Genomic Medicine, 2023
Structures of VWF tubules before and after concatemerization reveal a mechanism of disulfide bond exchange.
Anderson JR et al.
Blood, 2022
von Willebrand factor propeptide variants lead to impaired storage and ER retention in patient-derived endothelial colony-forming cells.
Bowman M et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
Structural basis of von Willebrand factor multimerization and tubular storage.
Zeng J et al.
Blood, 2022
The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients.
Pagliari MT et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2022
Variants p.Pro2063Ser and p.Arg324* co-segregate in type 3 von Willebrand disease patients from Southern Brazil.
Ornaghi AP et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
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 propeptide: biology and clinical utility.
Haberichter SL
Blood, 2015
[The function and clinical value of Von Willebrand factor propeptide].
Yin J et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Evaluation of an automated method for measuring von Willebrand factor activity in clinical samples without ristocetin.
Graf L et al.
International Journal of Laboratory Hematology, 2014
Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.
Hampshire DJ et al.
Thrombosis and Haemostasis, 2013
Weibel-Palade bodies: a window to von Willebrand disease.
Valentijn KM et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.
Bowman M et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.
Wang QY et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
[The phenotypic and genotypic diagnosis of three Chinese patients with von Willebrand disease].
Jiang LL et al.
Zhonghua Nei Ke Za Zhi, 2012
Reduced von Willebrand factor secretion is associated with loss of Weibel-Palade body formation.
Castaman G et al.
Journal of Thrombosis and Haemostasis : Jth, 2012
Structure and function of von Willebrand factor.
Hassan MI et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2012
von Willebrand factor: more than a regulator of hemostasis and thrombosis.
Luo GP et al.
Acta Haematologica, 2012
Intracellular storage and regulated secretion of von Willebrand factor in quantitative von Willebrand disease.
Wang JW et al.
The Journal of Biological Chemistry, 2011
Genetic testing for von Willebrand disease: the case against.
Favaloro EJ
Journal of Thrombosis and Haemostasis : Jth, 2010
Genetic alteration of the D2 domain abolishes von Willebrand factor multimerization and trafficking into storage.
Haberichter SL et al.
Journal of Thrombosis and Haemostasis : Jth, 2009
Laboratory diagnosis and molecular classification of von Willebrand disease.
Gadisseur A et al.
Acta Haematologica, 2009
Laboratory and molecular characteristics of recessive von Willebrand disease type 2C (2A subtype IIC) of variable severity due to homozygous or double heterozygous mutations in the D1 and D2 domains.
Michiels JJ et al.
Acta Haematologica, 2009
Expression studies of missense mutations p.D141Y, p.C275S located in the propeptide of von Willebrand factor in patients with type 3 von Willebrand disease.
Baronciani L et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008
Biochemical characterization of a recombinant von Willebrand factor (VWF) with combined type 2B and type 1 defects in the VWF gene in two patients with a type 2A phenotype of von Willebrand disease.
Baronciani L et al.
Journal of Thrombosis and Haemostasis : Jth, 2007
On the cutting edge: von Willebrand factor propeptide and thrombosis.
Ragni MV
Journal of Thrombosis and Haemostasis : Jth, 2006
Genetics of von Willebrand disease type 1.
Riddel JP et al.
Biological Research for Nursing, 2006
Characterization of recessive severe type 1 and 3 von Willebrand Disease (VWD), asymptomatic heterozygous carriers versus bloodgroup O-related von Willebrand factor deficiency, and dominant type 1 VWD.
Michiels JJ et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2006
Mutations C1157F and C1234W of von Willebrand factor cause intracellular retention with defective multimerization and secretion.
Hommais A et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
Inherited bleeding disorders: disorders of platelet adhesion and aggregation.
Ramasamy I
Critical Reviews in Oncology/hematology, 2004
Analysis of intracellular storage and regulated secretion of 3 von Willebrand disease-causing variants of von Willebrand factor.
Michaux G et al.
Blood, 2003
The role of the D1 domain of the von Willebrand factor propeptide in multimerization of VWF.
Rosenberg JB et al.
Blood, 2002
Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins.
Toyofuku K et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2001
The molecular biology of von Willebrand disease.
Keeney S et al.
Clinical and Laboratory Haematology, 2001
Endoplasmic reticulum retention and prolonged association of a von Willebrand's disease-causing von Willebrand factor variant with ERp57 and calnexin.
Allen S et al.
Biochemical and Biophysical Research Communications, 2001
A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion.
Allen S et al.
Blood, 2000
Endothelial cell confluence regulates Weibel-Palade body formation.
Howell GJ et al.
Molecular Membrane Biology, 0
Genetic defects in von Willebrand disease type 3 in Indian and Greek patients.
Gupta PK et al.
Blood Cells, Molecules & Diseases, 0
[Prevention of new cases of the disease in families of hemophilia patients in Moscow using a genetic register].
Pliushch OP et al.
Gematologiia I Transfuziologiia, 0