Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The common VWF variant p.Y1584C: detailed pathogenic examination of an enigmatic sequence change.

Journal of thrombosis and haemostasis : JTH - 1 Mar 2024

Christopherson Pamela A, Tijet Nathalie, Haberichter Sandra L, Flood Veronica H, Ross Justyne, Notley Colleen, Rawley Orla, Montgomery Robert R, James Paula D, Lillicrap David

Abstract excerpt

BACKGROUND: As knowledge of the human genome has advanced, so too has the recognition that interpretation of the pathogenic nature of sequence variants can be challenging. The von Willebrand factor (VWF) gene exhibits a significant degree of sequence variability, and the first VWF variant associated with type 1 von Willebrand disease (VWD), c.4751 A>G, p.Y1584C, was described in 2003. However, since that time,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Blood disorders and treatments
Share to Canada

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hemophilia Treatment and Research

Share to Phenotype

Share to Platelet Disorders and Treatments

Share to von Willebrand Diseases

Share to von Willebrand Factor

Source

Open in PubMed Open full text

Identifiers

PMID: 38040335
DOI: 10.1016/j.jtha.2023.11.016
PMCID: PMC10922911

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The common VWF variant p.Y1584C: detailed pathogenic examination of an enigmatic sequence change.PMID 38040335Read ↗

C1584: effect on von Willebrand factor proteolysis and von Willebrand factor antigen levels.Semantic proximity Read ↗

Genetic study of von Willebrand factor antigen levels ≤ 50 IU/dL identifies variants associated with increased risk of von Willebrand disease and bleeding.Semantic proximity Read ↗

The prevalence of the cysteine1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: co-segregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype.Semantic proximity Read ↗

DNA variant classification-reconsidering "allele rarity" and "phenotype" criteria in ACMG/AMP guidelines.Semantic proximity Read ↗

Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease.Semantic proximity Read ↗

Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in PhenotypeSemantic proximity Read ↗

Molecular genetic testing in von Willebrand disease: past, present, and beyond.Semantic proximity Read ↗

Unraveling the Influence of Common von Willebrand factor variants on von Willebrand Disease Phenotype: An Exploratory Study on the Molecular and Clinical Profile of von Willebrand Disease in Spain Cohort.Semantic proximity Read ↗

The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance.Semantic proximity Read ↗

von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels.Semantic proximity Read ↗

von Willebrand factor antigen levels are associated with burden of rare nonsynonymous variants in the VWF gene.Semantic proximity Read ↗

Molecular diagnosis of von Willebrand diseaseSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.