von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor
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Summary
A microfluidic assay might open new possibilities for diagnosis of new VWD phenotypes and treatment choice for VWD patients with shear-dependent VWF dysfunctions that are currently not detectable by static tests.
- Type
- article
- Published
- 2014-07-03
- Cited by
- 34
- References
- 37
- OpenAlex
- https://openalex.org/W2104430226
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:23808912
Keywords
Von Willebrand disease, Von Willebrand factor, Mutant, Phenotype, Platelet
References
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- Local Elongation of Endothelial Cell-anchored von Willebrand Factor Strings Precedes ADAMTS13 Protein-mediated Proteolysis*
- Blood-clotting-inspired reversible polymer–colloid composite assembly in flow
- The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF.
- Fluid shear induces conformation change in human blood protein von Willebrand factor in solution.
- Using ImageJ for the quantitative analysis of flow-based adhesion assays in real-time under physiologic flow conditions
- Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease.
- Crystal structure of transforming growth factor-beta 2: an unusual fold for the superfamily.
- Identification of a candidate missense mutation in a family with von Willebrand disease type IIC
- Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure
- Formation and function of Weibel-Palade bodies
- Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM‐1VWD)
- Shear-induced interaction of platelets with von Willebrand factor results in glycoprotein Ibalpha shedding.
Cited by
- Analysis of platelet function and dysfunction
- Force-sensitive autoinhibition of the von Willebrand factor is mediated by interdomain interactions.
- New Insights into Genotype and Phenotype of VWD
- von Willebrand factor is dimerized by protein disulfide isomerase.
- Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism.
- Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami
- Von Willebrand factor processing
- Diagnosing von Willebrand disease: Genetic analysis
- Application of microfluidic devices in studies of thrombosis and hemostasis
- Von Willebrand disease mutation spectrum and associated mutation mechanisms.
- Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw–Schulman Syndrome Investigated in Germany
- The von Willebrand factor Tyr2561 allele is a gain-of-function variant and a risk factor for early myocardial infarction.
- Advancing multimer analysis of von Willebrand factor by single-molecule AFM imaging
- How ARVC-Related Mutations Destabilize Desmoplakin: An MD Study.
- Analysis of von Willebrand Disease in the South Moravian Population (Czech Republic): Results from the BRNO-VWD Study
- Acquired Von Willebrand Syndrome (AVWS) in cardiovascular disease: a state of the art review for clinicians
- Alteration in GPIIb/IIIa Binding of VWD-Associated von Willebrand Factor Variants with C-Terminal Missense Mutations
- Updated overview on von Willebrand disease: focus on the interest of genotyping
- Evidence for the Misfolding of the A1 Domain within Multimeric von Willebrand Factor in Type 2 von Willebrand Disease.
- Upshaw-Schulman syndrome-associated ADAMTS13 variants possess proteolytic activity at the surface of endothelial cells and in simulated circulation
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