ArticleBlood2013
Analysis of the storage and secretion of von Willebrand factor in blood outgrowth endothelial cells derived from patients with von Willebrand disease.
Article in Blood, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed.
- Development of autologous in vitro vascular models for use in preclinical biotherapeutic development.Blood vessels, thrombosis & hemostasis · 2026Article
- An assessment of the functional state of endothelial colony forming cells from patients with diabetes mellitus and chronic limb threatening ischemia.Stem cells translational medicine · 2025Article
- Review
- Proliferative potential and angiogenic characteristics of blood outgrowth endothelial cells derived from middle-aged and older adults.Journal of geriatric cardiology : JGC · 2024Article
- Application of genetic testing for the diagnosis of von Willebrand disease.Journal of thrombosis and haemostasis : JTH · 2024Review
- Variant p.Tyr1584Cys: a frequent von Willebrand factor variant in search of von Willebrand disease.Research and practice in thrombosis and haemostasis · 2024Article
- A transcriptome analysis of basal and stimulated VWF release from endothelial cells derived from patients with type 1 VWD.Blood advances · 2023Article
- Human Endothelial Colony-Forming Cells.Cold Spring Harbor perspectives in medicine · 2022Article
- Heterogeneity and reciprocity of FVIII and VWF expression, and the response to shear stress in cultured human endothelial cells.Journal of thrombosis and haemostasis : JTH · 2022Article
- Dispatch and delivery at the ER-Golgi interface: how endothelial cells tune their hemostatic response.The FEBS journal · 2022Article
- Structures of VWF tubules before and after concatemerization reveal a mechanism of disulfide bond exchange.Blood · 2022Article
- Article
- Syntaxin 5 determines Weibel-Palade body size and von Willebrand factor secretion by controlling Golgi architecture.Haematologica · 2022Article
- von Willebrand factor propeptide variants lead to impaired storage and ER retention in patient-derived endothelial colony-forming cells.Journal of thrombosis and haemostasis : JTH · 2022Article
- Article
- The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients.Haemophilia : the official journal of the World Federation of Hemophilia · 2022Article
- Multifaceted pathomolecular mechanism of a VWF large deletion involved in the pathogenesis of severe VWD.Blood advances · 2022Article
- Exploring Endothelial Colony-Forming Cells to Better Understand the Pathophysiology of Disease: An Updated Review.Stem cells international · 2022Review
- Quantitative analysis of Weibel-Palade bodies.PloS one · 2022Article
- Targeting HIF2α-ARNT hetero-dimerisation as a novel therapeutic strategy for pulmonary arterial hypertension.The European respiratory journal · 2021Article
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10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Patients with von Willebrand disease (VWD) are often heterozygous for a missense mutation in the von Willebrand factor (VWF) gene. Investigating the pathogenic features of VWF mutations in cells directly derived from patients has been challenging. Here, we have used blood outgrowth endothelial cells (BOECs) isolated from human peripheral blood to analyze the storage and secretion of VWF. BOECs showed full endothelial characteristics and responded to Weibel-Palade body (WPB) secretagogues except desmopressin. We examined BOECs derived from a single subject heterozygous for a type 2N mutation (p.Arg854Gln) and from 4 patients with type 1 VWD who were, respectively, heterozygous for p.Ser1285Pro, p.Leu1307Pro, p.Tyr1584Cys, and p.Cys2693Tyr. Compared with normal BOECs, BOECs heterozygous for p.Ser1285Pro, p.Leu1307Pro, or p.Cys2693Tyr showed morphologically abnormal WPB and retention of VWF in the endoplasmic reticulum, whereas BOECs heterozygous for p.Arg854Gln or p.Tyr1584Cys showed normal WPB. The agonist-induced exocytosis of WPB from BOECs and formation of VWF strings on BOECs heterozygous for p.Ser1285Pro, p.Leu1307Pro, or p.Cys2693Tyr, but not for p.Arg854Gln or p.Tyr1584Cys, were reduced. In conclusion, VWD phenotype can be recapitulated in BOECs, and thus BOECs provide a feasible bona fide cell model to study the pathogenic effects of VWF mutations.
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