Sep 1, 1998 · Von Willebrand factor (vWF), a large glycoprotein encoded by a gene on chromosome 12, is synthesized by vascular endothelial cells and circulates in human plasma at concentrations of 10 μg/mL. 1 In plasma, vWF forms a noncovalent complex with coagulation factor VIII, the protein encoded by a gene on the X chromosome that is deficient or ...

Von Willebrand factor (VWF) (German: [fɔn ˈvɪləbʁant]) is a blood glycoprotein that promotes primary hemostasis, specifically, platelet adhesion.

Jul 25, 2013 · Several common and rare VWF missense variants contribute to phenotypic differences in VWF and FVIII among African Americans. Next-generation sequencing technology and improved genotype imputation can contribute to …

Mar 30, 2025 · VWF (Von Willebrand Factor) is a Protein Coding gene. Diseases associated with VWF include Von Willebrand Disease, Type 1 and Von Willebrand Disease, Type 2. Among its related pathways are Diseases of hemostasis and Enhanced binding of GP1BA variant to VWF multimer:collagen.

Quantitative and/or qualitative deficiency of von Willebrand factor (vWF) is associated with the most common inherited bleeding disease von Willebrand disease (vWD). vWD is a complex disease with clinical and genetic heterogeneity.

Feb 8, 2025 · Microsatellite (GT) (n) is part of the von Willebrand factor (VWF) promoter region that influences the glucocorticoid-induced increase in VWF in Cushing's syndrome. Daidone V, et al. Thromb Res, 2010 Jun. PMID 20156642. What's a GeneRIF? The Role of Platelets and von Willebrand Factor in the Procoagulant Phenotype of Inflammatory Bowel Disease.

We identified a heterozygous silent mutation, c.7464C>T, in exon 44 of the von Willebrand factor (VWF) gene in a family with type 1 von Willebrand disease. Most associated ABO SNPs are also associated with vWF gene expression; elevated vWF levels are associated with recurrent stroke.

In several families, large vWF gene deletions have been identified as the basis for von Willebrand's disease (vWD). In most patients, however, the vWF gene is found to be grossly intact by Southern blot analysis, a result that implies a more subtle molecular defect.

Dec 6, 2013 · VWF is a multimeric plasma glycoprotein that is critical for platelet tethering at sites of blood vessel damage and therefore is essential for normal hemostasis. 1 VWF expression is limited to endothelial cells and megakaryocytes.

Oct 10, 2024 · VWF von Willebrand factor Gene ID: 7450, updated on 10-Oct-2024 Gene type: protein coding Also known as: VWD; F8VWF. See all available tests in GTR for this gene; Go to complete Gene record for VWF; Go to Variation Viewer for VWF variants; Summary. This gene encodes a glycoprotein involved in hemostasis.