Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.I1309V
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VWF

NM_000552.5:p.I1309V

Associated Papers

Genetic determinants of clinical variability in type 2 von Willebrand disease: bridging genotype and phenotype.

Seidizadeh O et al.

Haematologica, 2026

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

Sandoval-Pérez A et al.

Proteins, 2022

The VWF binding aptamer rondoraptivon pegol increases platelet counts and VWF/FVIII in type 2B von Willebrand disease.

Ay C 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

35192687 (PubMed )
Supplement: advancesADV2021005431C-suppl1.pdf

Gain-of-Function Variant p.Pro2555Arg of von Willebrand Factor Increases Aggregate Size through Altering Stem Dynamics.

Huck V et al.

Thrombosis and Haemostasis, 2022

Increasing levels of von Willebrand factor and factor VIII with age in patients affected by von Willebrand disease.

Biguzzi E et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

The von Willebrand factor Tyr2561 allele is a gain-of-function variant and a risk factor for early myocardial infarction.

Schneppenheim R et al.

Blood, 2019

Specific electrostatic interactions between charged amino acid residues regulate binding of von Willebrand factor to blood platelets.

Interlandi G et al.

The Journal of Biological Chemistry, 2017

A discontinuous autoinhibitory module masks the A1 domain of von Willebrand factor.

Deng W et al.

Journal of Thrombosis and Haemostasis : Jth, 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

Thrombosis and von Willebrand Factor.

Shahidi M

Advances in Experimental Medicine and Biology, 2017

Lupus anticoagulants associated inhibitor against factor IX in a young patient with haemophilia B.

Barnbrock A 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

Exploiting the kinetic interplay between GPIbα-VWF binding interfaces to regulate hemostasis and thrombosis.

Chen J 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

The type 2B p.R1306W natural mutation of von Willebrand factor dramatically enhances the multimer sensitivity to shear stress.

Scaglione GL et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

Functional display of platelet-binding VWF fragments on filamentous bacteriophage.

Yee A et al.

Plos One, 2013

The mechanism of VWF-mediated platelet GPIbalpha binding.

Auton M et al.

Biophysical Journal, 2010

A family having type 2B von Willebrand disease with an R1306W mutation: Severe thrombocytopenia leads to the normalization of high molecular weight multimers.

Ozeki M et al.

Thrombosis Research, 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

Genotype/phenotype association in von Willebrand disease: is the glass half full or empty?

Lillicrap D

Journal of Thrombosis and Haemostasis : Jth, 2009

Laboratory testing for von Willebrand disease: toward a mechanism-based classification.

Torres R et al.

Clinics in Laboratory Medicine, 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 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

Molecular mapping of the chloride-binding site in von Willebrand factor (VWF): energetics and conformational effects on the VWF/ADAMTS-13 interaction.

De Cristofaro R et al.

The Journal of Biological Chemistry, 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

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 genetics of von Willebrand disease.

Mazurier C et al.

Annales De Genetique, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."