ArticleBlood2012
Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.
Article in Blood, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 70 citations in OpenAlex.
- Biology of von Willebrand disease.Blood advances · 2026Review
- Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort.Thrombosis and haemostasis · 2026Article
- Abnormal von Willebrand factor multimer pattern withoutBlood vessels, thrombosis & hemostasis · 2026Article
- Structure and multiple functions of von Willebrand factor.Haematologica · 2026Review
- Restoring VWF multimerization via endothelial gene therapy: A minimalist yet mechanistically precise approach.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Deep molecular modeling and mechanistic insights into type 2A von Willebrand disease with von Willebrand factor A2 domain mutations.Research and practice in thrombosis and haemostasis · 2025Article
- Clinical, Phenotypic and Genotypic Characteristics of Von Willebrand Disease in Afro-Caribbeans: Results From a Study in Martinique Island, French West Indies.Haemophilia : the official journal of the World Federation of Hemophilia · 2025Article
- Rewriting the script: gene therapy and genome editing for von Willebrand Disease.Frontiers in genome editing · 2025Review
- von Willebrand disease.Nature reviews. Disease primers · 2024Review
- The common VWF variant p.Y1584C: detailed pathogenic examination of an enigmatic sequence change.Journal of thrombosis and haemostasis : JTH · 2024Article
- Analysis of von Willebrand Disease in the "Heart of Europe".TH open : companion journal to thrombosis and haemostasis · 2022Article
- Novel cysteine substitution p.(Cys1084Tyr) causes variable expressivity of qualitative and quantitative VWF defects.Blood advances · 2022Article
- Identification of von Willebrand factor D4 domain mutations in patients of Afro-Caribbean descent: In vitro characterization.Research and practice in thrombosis and haemostasis · 2022Article
- Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease.Croatian medical journal · 2022Article
- Quantitative 3D microscopy highlights altered von Willebrand factor α-granule storage in patients with von Willebrand disease with distinct pathogenic mechanisms.Research and practice in thrombosis and haemostasis · 2021Article
- von Willebrand factor propeptide to antigen ratio identifies platelet activation and reduced von Willebrand factor survival phenotype in mice.Journal of thrombosis and haemostasis : JTH · 2018Article
- ADAMTS-13 and von Willebrand factor: a dynamic duo.Journal of thrombosis and haemostasis : JTH · 2018Review
- Clinical and laboratory phenotype variability in type 2M von Willebrand disease.Journal of thrombosis and haemostasis : JTH · 2017Article
- Article
- Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States.Blood · 2016Article
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Authors and funding
6 authors at 2 institutions in 1 country.
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Abstract
Type 2A VWD is characterized by the absence of large VWF multimers and decreased platelet-binding function. Historically, type 2A variants are subdivided into group 1, which have impaired assembly and secretion of VWF multimers, or group 2, which have normal secretion of VWF multimers and increased ADAMTS13 proteolysis. Type 2A VWD patients recruited through the T. S. Zimmerman Program for the Molecular and Clinical Biology of VWD study were characterized phenotypically and potential mutations identified in the VWF D2, D3, A1, and A2 domains. We examined type 2A variants and their interaction with WT-VWF through expression studies. We assessed secretion/intracellular retention, multimerization, regulated storage, and ADAMTS13 proteolysis. Whereas some variants fit into the traditional group 1 or 2 categories, others did not fall clearly into either category. We determined that loss of Weibel-Palade body formation is associated with markedly reduced secretion. Mutations involving cysteines were likely to cause abnormalities in multimer structure but not necessarily secretion. When coexpressed with wild-type VWF, type 2A variants negatively affected one or more mechanisms important for normal VWF processing. Type 2A VWD appears to result from a complex intersection of mechanisms that include: (1) intracellular retention or degradation of VWF, (2) defective multimerization, (3) loss of regulated storage, and (4) increased proteolysis by ADAMTS13.
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