ArticleBlood2009
Modifiers of von Willebrand factor identified by natural variation in inbred strains of mice.
Article in Blood, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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13 citing papers in PubMed, 24 citations in OpenAlex.
- Characterization of the blood-brain barrier in genetically diverse laboratory mouse strains.Fluids and barriers of the CNS · 2021Article
- The C1 and C2 domains of blood coagulation factor VIII mediate its endocytosis by dendritic cells.Haematologica · 2017Article
- A novel role for von Willebrand factor in the pathogenesis of experimental cerebral malaria.Blood · 2016Article
- Article
- Modeling Disorders of Blood Coagulation in the Zebrafish.Current pathobiology reports · 2015Article
- Article
- Third Åland islands conference on von Willebrand disease, 26-28 September 2012: meeting report.Haemophilia : the official journal of the World Federation of Hemophilia · 2013Article
- Loss of fibrinogen in zebrafish results in symptoms consistent with human hypofibrinogenemia.PloS one · 2013Article
- Von Willebrand Factor Abnormalities Studied in the Mouse Model: What We Learned about VWF Functions.Mediterranean journal of hematology and infectious diseases · 2013Article
- The CXCR4/CXCR7/SDF-1 pathway contributes to the pathogenesis of Shiga toxin-associated hemolytic uremic syndrome in humans and mice.The Journal of clinical investigation · 2012Article
- An apparently silent nucleotide substitution (c.7056C>T) in the von Willebrand factor gene is responsible for type 1 von Willebrand disease.Haematologica · 2011Article
- Article
- Mouse chromosome 17 candidate modifier genes for thrombosis.Mammalian genome : official journal of the International Mammalian Genome Society · 2010Article
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5 authors at 2 institutions in 1 country.
Funding
Abstract
Type 1 von Willebrand disease (VWD) is the most common inherited human bleeding disorder. However, diagnosis is complicated by incomplete penetrance and variable expressivity, as well as wide variation in von Willebrand factor (VWF) levels among the normal population. Previous work has exploited the highly variable plasma VWF levels among inbred strains of mice to identify 2 major regulators, Mvwf1 and Mvwf2 (modifier of VWF). Mvwf1 is a glycosyltransferase and Mvwf2 is a natural variant in Vwf that alters biosynthesis. We report the identification of an additional alteration at the Vwf locus (Mvwf5), as well as 2 loci unlinked to Vwf (Mvwf6-7) using a backcross approach with the inbred mouse strains WSB/EiJ and C57BL/6J. Through positional cloning, we show that Mvwf5 is a cis-regulatory variant that alters Vwf mRNA expression. A similar mechanism could potentially explain a significant percentage of human VWD cases, especially those with no detectable mutation in the VWF coding sequence. Mvwf6 displays conservation of synteny with potential VWF modifier loci identified in human pedigrees, suggesting that its ortholog may modify VWF in human populations.
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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.