Evidence map›Paper›PMID 19789385›Full record

ArticleBlood2009

Modifiers of von Willebrand factor identified by natural variation in inbred strains of mice.

Jordan A Shavit, Ani Manichaikul, Heidi L Lemmerhirt, Karl W Broman, David Ginsburg

Open access · bronzeAbstract read
In one paragraph

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.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
1.1field-weighted citation impact, top 22% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed, 24 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Third Åland islands conference on von Willebrand disease, 26-28 September 2012: meeting report.Haemophilia : the official journal of the World Federation of Hemophilia · 2013
    Article
  8. Article
  9. Von Willebrand Factor Abnormalities Studied in the Mouse Model: What We Learned about VWF Functions.Mediterranean journal of hematology and infectious diseases · 2013
    Article
  10. Article
  11. Article
  12. Article
  13. Mouse chromosome 17 candidate modifier genes for thrombosis.Mammalian genome : official journal of the International Mammalian Genome Society · 2010
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Jordan A ShavitDepartment of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA.
Ani Manichaikul
Heidi L Lemmerhirt
Karl W Broman
David Ginsburg
Johns Hopkins University · USUniversity of Michigan–Ann Arbor · US

Funding

TRANSGENIC MODELS FOR THE STUDY OF FACTOR V FUNCTIONP01HL057346 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI GINSBURG, DAVID · 1997 to 2013
$19.9M
Advancing Child Health Through Cellular and Molecular BiologyK12HD028820 · NICHD · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Donna M. Martin · 2002 to 2026
$9.2M
MOLECULAR GENETIC STUDY OF VONWILLEBRAND FACTORR37HL039693 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI GINSBURG, DAVID · 2001 to 2010
$3.7M
Molecular Genetic Study of von Willebrand FactorR01HL039693 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI GINSBURG, DAVID · 1989 to 2016
$2.4M
Statistical Methods and Software for QTL MappingR01GM074244 · NIGMS · UNIVERSITY OF WISCONSIN-MADISON · PI BROMAN, KARL W · 2005 to 2013
$2.3M
NHLBI NIH HHS P01 HL057346NHLBI NIH HHS P01-HL057346NHLBI NIH HHS R01 HL039693NHLBI NIH HHS R37 HL039693NHLBI NIH HHS R37-HL39693NICHD NIH HHS HD028820NICHD NIH HHS K12 HD028820NIGMS NIH HHS R01 GM074244NIGMS NIH HHS R01-GM074244
6 · The paper itself

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.

Indexed as

Gene Expression RegulationAnimalsEnzyme-Linked Immunosorbent AssayFemaleGenetic VariationGenotypeHumansMaleMiceMice, Inbred StrainsPolymorphism, Restriction Fragment LengthPolymorphism, Single NucleotideQuantitative Trait LociRegulatory Elements, TranscriptionalReverse Transcriptase Polymerase Chain ReactionRNA, MessengerRNA, Messengervon Willebrand Factor

Identifiers

PMID19789385
PMCPMC2796139
OpenAlexW2158964850

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.