ArticleBlood2010
Functional characterization of a 13-bp deletion (c.-1522_-1510del13) in the promoter of the von Willebrand factor gene in type 1 von Willebrand disease.
Article in Blood, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 36 citations in OpenAlex.
- Application of genetic testing for the diagnosis of von Willebrand disease.Journal of thrombosis and haemostasis : JTH · 2024Review
- 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
- SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing.Genome medicine · 2022Article
- Innovative Molecular Testing Strategies for Adjunctive Investigations in Hemostasis and Thrombosis.Seminars in thrombosis and hemostasis · 2019Review
- Genetic regulation of plasma von Willebrand factor levels in health and disease.Journal of thrombosis and haemostasis : JTH · 2018Review
- The role of von Willebrand factor in thrombotic microangiopathy.Pediatric nephrology (Berlin, Germany) · 2018Review
- [Mutation analysis of VWF gene in two patients with von Willebrand disease by target sequence capture and high-throughput sequencing technology].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2018Article
- Diagnosing von Willebrand disease: genetic analysis.Hematology. American Society of Hematology. Education Program · 2016Review
- New insights into genotype and phenotype of VWD.Hematology. American Society of Hematology. Education Program · 2014Review
- Review
- von Willebrand disease: clinical and laboratory lessons learned from the large von Willebrand disease studies.American journal of hematology · 2012Review
- The molecular basis of von Willebrand disease: the under investigated, the unexpected and the overlooked.Haematologica · 2011Article
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 2 countries.
Funding
Abstract
We have studied the effect of a 13-bp deletion in the promoter of the von Willebrand factor (VWF) gene in a patient with type 1 von Willebrand disease. The index case has a VWF:Ag of 0.49 IU/mL and is heterozygous for the deletion. The deletion is located 48 bp 5' of the transcription start site, and in silico analysis, electrophoretic mobility shift assays, and chromatin immunoprecipitation studies all predict aberrant binding of Ets transcription factors to the site of the deletion. Transduction of reporter gene constructs into blood outgrowth endothelial cells showed a 50.5% reduction in expression with the mutant promoter (n = 16, P < .001). A similar 40% loss of transactivation was documented in transduced HepG2 cells. A similar marked reduction of transgene expression was shown in the livers of mice injected with the mutant promoter construct (n = 8, P = .003). Finally, in studies of BOEC mRNA, the index case showed a 4.6-fold reduction of expression of the VWF transcript associated with the deletion mutation. These studies show that the 13-bp deletion mutation alters the binding of Ets (and possibly GATA) proteins to the VWF promoter and significantly reduces VWF expression, thus playing a central pathogenic role in the type 1 von Willebrand disease phenotype in the index case.
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Registered trials
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