Evidence map›Paper›PMID 8986815›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America1996

A novel modifier gene for plasma von Willebrand factor level maps to distal mouse chromosome 11.

K L Mohlke, W C Nichols, R J Westrick, E K Novak, K A Cooney, R T Swank, D Ginsburg

Open access · greenAbstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
3.5field-weighted citation impact, top 7% 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

16 citing papers in PubMed, 63 citations in OpenAlex.

  1. Hyperadhesive von Willebrand Factor Contributes to Pathogenesis of Preeclampsia.Arteriosclerosis, thrombosis, and vascular biology · 2026
    Article
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  6. Review
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  9. Spontaneous Irs1 passenger mutation linked to a gene-targeted SerpinB2 allele.Proceedings of the National Academy of Sciences of the United States of America · 2010
    Article
  10. Article
  11. Quantitative trait locus analysis for hemostasis and thrombosis.Mammalian genome : official journal of the International Mammalian Genome Society · 2008
    Article
  12. Article
  13. The endothelial-specific regulatory mutation, Mvwf1, is a common mouse founder allele.Mammalian genome : official journal of the International Mammalian Genome Society · 2008
    Article
  14. Article
  15. Article
  16. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 2 institutions in 1 country.

K L MohlkeDepartment of Human Genetics, University of Michigan Medical School, Ann Arbor 48109, USA.
W C Nichols
R J Westrick
E K Novak
K A Cooney
R T Swank
D Ginsburg
University of Michigan–Ann Arbor · USHoward Hughes Medical Institute · US

Funding

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
MEGAKARYOCYTE-PLATELET GRANULES IN STORAGE POOL DISEASER01HL031698 · NHLBI · ROSWELL PARK CANCER INSTITUTE CORP · PI SWANK, RICHARD T · 1985 to 2004
$1.5M
MOUSE MODEL OF HUMAN TYPE I VON WILLEBRAND DISEASEK08HL002839 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI COONEY, KATHLEEN A · 1993 to 1995
–
NHLBI NIH HHS HL02839NHLBI NIH HHS HL31698NHLBI NIH HHS HL39693NHLBI NIH HHS R01 HL031698NHLBI NIH HHS R01 HL039693NHLBI NIH HHS R37 HL039693
6 · The paper itself

Abstract

Type 1 von Willebrand disease (VWD), characterized by reduced levels of plasma von Willebrand factor (VWF), is the most common inherited bleeding disorder in humans. Penetrance of VWD is incomplete, and expression of the bleeding phenotype is highly variable. In addition, plasma VWF levels vary widely among normal individuals. To identify genes that influence VWF level, we analyzed a genetic cross between RIIIS/J and CASA/Rk, two strains of mice that exhibit a 20-fold difference in plasma VWF level. DNA samples from F2 progeny demonstrating either extremely high or extremely low plasma VWF levels were pooled and genotyped for 41 markers spanning the autosomal genome. A novel locus accounting for 63% of the total variance in VWF level was mapped to distal mouse chromosome 11, which is distinct from the murine Vwf locus on chromosome 6. We designated this locus Mvwf for "modifier of VWF." Additional genotyping of as many as 2407 meioses established a high resolution genetic map with gene order Cola1-Itg3a-Ngfr-Mvwf/Gip-Hoxb9-Hoxb1++ +-Cbx'rs2-Cox5a-Gfap. The Mvwf candidate interval between Ngfr and Hoxb9 is approximately 0.5 centimorgan (cM). These results demonstrate that a single dominant gene accounts for the low VWF phenotype of RIIIS/J mice in crosses with several other strains. The pattern of inheritance suggests a gain-of-function mutation in a unique component of VWF biosynthesis or processing. Characterization of the human homologue for Mvwf may have relevance for a subset of type 1 VWD cases and may define an important genetic factor modifying penetrance and expression of mutations at the VWF locus.

Indexed as

Chromosome MappingPolymorphism, Restriction Fragment LengthAnimalsBase SequenceCrosses, GeneticDNA PrimersEnzyme-Linked Immunosorbent AssayGenetic Carrier ScreeningGenotypeHomozygoteHumansMiceMice, Inbred StrainsMolecular Sequence DataPolymerase Chain Reactionvon Willebrand DiseasesDNA Primersvon Willebrand Factor

Identifiers

PMID8986815
PMCPMC26408
OpenAlexW2116868364

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.