Associated Papers
The epitope of the antibody used in the REAADS VWF activity assay is quaternary.
Tischer A et al.
Thrombosis Journal, 2025
Application of genetic testing for the diagnosis of von Willebrand disease.
Seidizadeh O et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Evidence for the Misfolding of the A1 Domain within Multimeric von Willebrand Factor in Type 2 von Willebrand Disease.
Tischer A et al.
Journal of Molecular Biology, 2020
Von Willebrand disease mutation spectrum and associated mutation mechanisms.
de Jong A et al.
Thrombosis Research, 2017
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
Mutant botrocetin-2 inhibits von Willebrand factor-induced platelet agglutination.
Matsui T et al.
Journal of Thrombosis and Haemostasis : Jth, 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
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
Structural origins of misfolding propensity in the platelet adhesive von Willebrand factor A1 domain.
Zimmermann MT et al.
Biophysical Journal, 2015
Misfolding of vWF to pathologically disordered conformations impacts the severity of von Willebrand disease.
Tischer A et al.
Biophysical Journal, 2014
Genetic testing for von Willebrand disease: the case against.
Favaloro EJ
Journal of Thrombosis and Haemostasis : Jth, 2010
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
N1421K mutation in the glycoprotein Ib binding domain impairs ristocetin- and botrocetin-mediated binding of von Willebrand factor to platelets.
Lanke E et al.
European Journal of Haematology, 2008
Mutational analysis of the von Willebrand factor gene in type 1 von Willebrand disease using conformation sensitive gel electrophoresis: a comparison of fluorescent and manual techniques.
Hashemi Soteh M et al.
Haematologica, 2007
A new mutation, S1285F, within the A1 loop of von Willebrand factor induces a conformational change in A1 loop with abnormal binding to platelet GPIb and botrocetin causing type 2M von Willebrand disease.
Stepanian A et al.
British Journal of Haematology, 2003
The molecular biology of von Willebrand disease.
Keeney S et al.
Clinical and Laboratory Haematology, 2001
Molecular study of VWF gene from Mexican Mestizo patients with von Willebrand disease, and the finding of three new mutations.
Melo-Nava BM et al.
Blood Cells, Molecules & Diseases, 0