Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.G1324S
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VWF

NM_000552.5:p.G1324S

Associated Papers

Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.

Seidizadeh O et al.

Scientific Reports, 2026

41559284 (PubMed )
Supplement: 41598_2026_36145_MOESM1_ESM.pdf

Von Willebrand factor is a multifaceted player in hemostasis requiring a diverse array of analytical and diagnostic approaches.

Depasse F et al.

Expert Review of Hematology, 2025

Structure-resolved dynamics of type 2M von Willebrand disease.

Tischer A et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

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

39719968 (PubMed )
Supplement: ugae021_Supplemental_Files.zip › Aptamer_Paper_Supporting_Information_R1.pdf

Application of genetic testing for the diagnosis of von Willebrand disease.

Seidizadeh O et al.

Journal of Thrombosis and Haemostasis : Jth, 2024

Clinical relevance of genetic variants in the von Willebrand factor according to in-silico methods.

Woods AI et al.

American Journal of Medical Genetics. Part A, 2024

Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.

Seidizadeh O et al.

Npj Genomic Medicine, 2023

37845247 (PubMed )
Supplement: 41525_2023_375_MOESM1_ESM.pdf

Thermodynamic stabilization of von Willebrand factor A1 domain induces protein loss of function.

Sandoval-Pérez A et al.

Proteins, 2022

Type 2A and 2M von Willebrand Disease: Differences in Phenotypic Parameters According to the Affected Domain by Disease-Causing Variants and Assessment of Pathophysiological Mechanisms.

Woods AI et al.

Seminars in Thrombosis and Hemostasis, 2021

Shear Stress Accumulation Enhances von Willebrand Factor-Induced Platelet P-Selectin Translocation in a PI3K/Akt Pathway-Dependent Manner.

Fang J et al.

Frontiers in Cell and Developmental Biology, 2021

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

Glycosylation sterically inhibits platelet adhesion to von Willebrand factor without altering intrinsic conformational dynamics.

Tischer A et al.

Journal of Thrombosis and Haemostasis : Jth, 2020

The elusive and heterogeneous pattern of type 2M von Willebrand disease: A diagnostic challenge.

Casonato A et al.

European Journal of Haematology, 2018

Discordant von Willebrand factor (VWF) activity in patients with VWF p.Gly1324Ser confirmed in vitro.

Bowman M et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018

Comparison of an automated chemiluminescent assay to a manual ELISA assay for determination of von Willebrand Factor collagen binding activity on VWD plasma patients previously diagnosed through molecular analysis of VWF.

Jousselme E et al.

International Journal of Laboratory Hematology, 2018

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

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

M1761K mutation in the von Willebrand factor A3 domain associated with impaired collagen binding and without platelet dysfunction.

Ong DM et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 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

Mutational Constraints on Local Unfolding Inhibit the Rheological Adaptation of von Willebrand Factor.

Tischer A et al.

The Journal of Biological Chemistry, 2016

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

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

The N-terminal flanking region of the A1 domain regulates the force-dependent binding of von Willebrand factor to platelet glycoprotein Ibα.

Ju L et al.

The Journal of Biological Chemistry, 2013

O-linked glycosylation of von Willebrand factor modulates the interaction with platelet receptor glycoprotein Ib under static and shear stress conditions.

Nowak AA et al.

Blood, 2012

Structure and function of von Willebrand factor.

Hassan MI et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2012

GPIbα-vWF rolling under shear stress shows differences between type 2B and 2M von Willebrand disease.

Coburn LA et al.

Biophysical Journal, 2011

The mechanism of VWF-mediated platelet GPIbalpha binding.

Auton M et al.

Biophysical Journal, 2010

Common VWF exon 28 polymorphisms in African Americans affecting the VWF activity assay by ristocetin cofactor.

Flood VH 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

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

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

Purified A2 domain of von Willebrand factor binds to the active conformation of von Willebrand factor and blocks the interaction with platelet glycoprotein Ibalpha.

Martin C et al.

Journal of Thrombosis and Haemostasis : Jth, 2007

Intravenous DDAVP and factor VIII-von Willebrand factor concentrate for the treatment and prophylaxis of bleedings in patients With von Willebrand disease type 1, 2 and 3.

Michiels JJ et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2007

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

The interaction of von Willebrand factor-A1 domain with collagen: mutation G1324S (type 2M von Willebrand disease) impairs the conformational change in A1 domain induced by collagen.

Morales LD et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment.

Castaman G et al.

Haematologica, 2003

Identification of a new type 2M von Willebrand disease mutation also at position 1324 of von Willebrand factor.

Hilbert L et al.

Thrombosis and Haemostasis, 2002

Molecular genetics of type 2 von Willebrand disease.

Fressinaud E et al.

International Journal of Hematology, 2002

The molecular biology of von Willebrand disease.

Keeney S et al.

Clinical and Laboratory Haematology, 2001

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

Molecular genetics of von Willebrand disease.

Mazurier C et al.

Annales De Genetique, 1998

Molecular genetics of von Willebrand disease.

Ginsburg D et al.

Blood, 1992

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