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

CLEC4M and STXBP5 gene variations contribute to von Willebrand factor level variation in von Willebrand disease.

Journal of thrombosis and haemostasis : JTH - 1 Jun 2015

Sanders Y V, van der Bom J G, Isaacs A, Cnossen M H, de Maat M P M, Laros-van Gorkom B A P, Fijnvandraat K, Meijer K, van Duijn C M, Mauser-Bunschoten E P, Eikenboom J, Leebeek F W G

Abstract excerpt

BACKGROUND: von Willebrand factor (VWF) levels in healthy individuals are influenced by variations in genetic loci other than the VWF gene, whose contribution to VWF levels in patients with von Willebrand disease (VWD) is largely unknown. OBJECTIVES: To investigate the association between single-nucleotide polymorphisms (SNPs), VWF levels, and bleeding phenotype. PATIENTS/METHODS: In 364 type 1 VWD and 240 type 2...

Read the complete abstract on PubMed

Topics

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

Share to Blood Coagulation
Share to Blood Coagulation Tests

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hemorrhage

Share to Lectins, C-Type

Share to Molecular Diagnostic Techniques

Share to R-SNARE Proteins

Share to von Willebrand Disease, Type 2

Share to von Willebrand Factor

Source

Identifiers

PMID: 25832887
DOI: 10.1111/jth.12927

Genes

VWF
STXBP5
ABO
SCARA5
STAB2
STX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CLEC4M and STXBP5 gene variations contribute to von Willebrand factor level variation in von Willebrand disease.PMID 25832887Read ↗

Effect of genetic variation in STXBP5 and STX2 on von Willebrand factor and bleeding phenotype in type 1 von Willebrand disease patients.Semantic proximity Read ↗

Associations of multiple genetic variations with plasma levels of Von Willebrand Factor and clinical phenotype in Iranian patients with Von Willebrand disease type 1.Semantic proximity Read ↗

Combined analysis of three genome-wide association studies on vWF and FVIII plasma 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 ↗

Genome-wide association studies identify genetic loci for low von Willebrand factor levels.Semantic proximity Read ↗

Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort.Semantic proximity Read ↗

Genetic variation in the C-type lectin receptor CLEC4M in type 1 von Willebrand Disease patients.Semantic proximity Read ↗

Genetic Background of von Willebrand Disease: History, Current State, and Future PerspectivesSemantic proximity Read ↗

Genetic Variation in the Syntaxin-Binding Protein STXBP5 in Type 1 von Willebrand Disease Patients.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 ↗

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

Genetics of Venous Thrombosis: update in 2015.Semantic proximity Read ↗

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