ArticleThrombosis research2016
Mutations in the D'D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF.
Article in Thrombosis research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 16 citations in OpenAlex.
- Clusterin knockdown has effects on intracellular and secreted von Willebrand factor in human umbilical vein endothelial cells.PloS one · 2024Article
- Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.Blood advances · 2022Article
- Article
- Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.Blood advances · 2021Article
- Turbulent Flow Promotes Cleavage of VWF (von Willebrand Factor) by ADAMTS13 (A Disintegrin and Metalloproteinase With a Thrombospondin Type-1 Motif, Member 13).Arteriosclerosis, thrombosis, and vascular biology · 2019Article
- Article
- Effects of anti-β2GPI antibodies on VWF release from human umbilical vein endothelial cells and ADAMTS13 activity.Research and practice in thrombosis and haemostasis · 2018Article
- Evaluation of a microfluidic flow assay to screen for von Willebrand disease and low von Willebrand factor levels.Journal of thrombosis and haemostasis : JTH · 2018Article
- Frequency of type 2N von Willebrand disease among patients with mild or moderate factor VIII deficiency in an 18-month period in Iran.Blood transfusion = Trasfusione del sangueArticle
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Type 1 von Willebrand disease (VWD) is characterized by low plasma levels of von Willebrand factor (VWF) and clinical bleeding. Several mechanisms have been described that cause a decrease in plasma VWF levels in VWD, and the goal of this study was to elucidate the pathogenic origins of VWD for a group of mutations in the VWF D'D3 region traditionally associated with type 1 VWD. Varying ratios of mutant-to-wild-type VWF were expressed in two cell lines in order to study the intracellular location, multimer assembly, secretion and function of VWF. We identified four mutants (M771I, Y1146C, T1156M, R782Q) that caused defective intracellular packaging and markedly reduced VWF secretion. Consistent with previous reports, Y1146C and T1156M VWF led to a loss of high molecular weight multimers. In a functional analysis, Y1146C demonstrated a novel FVIII binding defect. Mutations R924W and I1094T were processed normally and did not show abnormal FVIII binding suggesting that other mechanisms such as plasma clearance or platelet binding defects may contribute to the pathogenicity of these mutants.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.