Associated Papers
Deep molecular modeling and mechanistic insights into type 2A von Willebrand disease with von Willebrand factor A2 domain mutations.
Seidizadeh O et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Seidizadeh O et al.
Blood Advances, 2022
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct.
Lynch CJ et al.
Plos One, 2017
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Probing ADAMTS13 substrate specificity using phage display.
Desch KC et al.
Plos One, 2015
Weibel-Palade bodies: a window to von Willebrand disease.
Valentijn KM et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.
Jacobi PM et al.
Blood, 2012
Modeling ADAMTS13-von Willebrand factor interaction: Implications for oxidative stress-related cardiovascular diseases and type 2A von Willebrand disease.
Pozzi N et al.
Biophysical Chemistry, 2012
Identification and functional analysis of a novel von Willebrand factor mutation in a family with type 2A von Willebrand disease.
Dong J et al.
Plos One, 2012
[Gene mutation analysis of one case with von willebrand disease type 2A].
Hou LH et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2009
Classification and characterization of hereditary types 2A, 2B, 2C, 2D, 2E, 2M, 2N, and 2U (unclassifiable) von Willebrand disease.
Michiels JJ et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2006
von Willebrand factor collagen binding assay in von Willebrand disease type 2A, 2B, and 2M.
Baronciani L et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
Impact of mutations in the von Willebrand factor A2 domain on ADAMTS13-dependent proteolysis.
Hassenpflug WA et al.
Blood, 2006
An association of candidate gene haplotypes and bleeding severity in von Willebrand disease type 2A, 2B, and 2M pedigrees.
Kunicki TJ et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
Rapid genotypic diagnosis of type 2A von Willebrand's disease by heteroduplex analysis.
Culpan D et al.
Clinical and Laboratory Haematology, 1998
Molecular modeling of ligand and mutation sites of the type A domains of human von Willebrand factor and their relevance to von Willebrand's disease.
Jenkins PV et al.
Blood, 1998
[von Willebrand disease--including related renal diseases].
Sato M
Ryoikibetsu Shokogun Shirizu, 1997