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UnknownVon Willebrand Factor (VWF) multiplex activity assay differentiation of type 1 von Willebrand Disease (VWD) and variant VWD.
Not available
S-EPMC10842138 | biostudies-literature
ProteomicsRemoving the mutant: Allele-selective knock-out ameliorates VWD type 2 in patient-derived ECFCs
Treatment of von Willebrand disease (VWD) has been topic of discussions and research for several decades. The (genetic) heterogeneity of the inherited bleeding disorder remains one of the biggest obstacles for proper treatment, as well as the high costs of (recombinant) factor concentrates of VWF. I...
ORGANISM(S): Homo sapiens (Human) 
2026-03-09 | PXD064937 | Pride
Vwd Peptide analysis Endothelial cells Variant detection Allele knockout 
UnknownVWD domain stabilization by autocatalytic Asp-Pro cleavage.
Not available
S-EPMC10880436 | biostudies-literature
ProteomicsEndothelial Colony Forming Cells Characteristics in a healthy and VWD patient cohort.
Background Endothelial cells are crucial for hemostasis as they produce Von Willebrand factor (VWF). Von Willebrand Disease (VWD) results from a deficiency or defects in VWF, However, diagnosis is difficult due to large differences between gene variants and bleeding phenotype. Here, we analyze the e...
ORGANISM(S): Homo sapiens (Human) 
2024-11-28 | PXD055124 | Pride
Proteomics Endothelial cell Ecfc Vwd 
UnknownLaboratory variability in the diagnosis of type 2 VWD variants.
Not available
S-EPMC7790985 | biostudies-literature
UnknownMolecular pathogenesis and heterogeneity in type 3 VWD families in U.S. Zimmerman program.
Not available
S-EPMC11892521 | biostudies-literature
UnknownClinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States.
Not available
S-EPMC4874228 | biostudies-literature
UnknownA transcriptome analysis of basal and stimulated VWF release from endothelial cells derived from patients with type 1 VWD.
Not available
S-EPMC10125911 | biostudies-literature
UnknownLaboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis.
Not available
S-EPMC9631556 | biostudies-literature
GenomicsMultifaceted Pathomolecular Mechanism of a VWF Large Deletion Involved in the Pathogenesis of Severe VWD
Multifaceted Pathomolecular Mechanism of a VWF Large Deletion Involved in the Pathogenesis of Severe VWD
PRJNA679242 | ENA
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