7 Matching Annotations
  1. Nov 2024
    1. Disorder studied: Type 1 von Willebrand disease (T1-VWD).

      Type of study: Translational

      Model organism: Mouse (inbred strains) Obtained from Jackson Laboratory

      Analyses:

      VWF plasma protein quantitation (ELISA)

      Hertiability calculations

      PCR genotyping

      QTL analysis

      Allele-specific primer extension analysis

      Results:

      Identified new modifier of VWF known as (Mvwf5). Also found two loci unliked to Vwf known as (Mvwf6-7)

      Mice with this variant displayed statistically significant decrease in VWF levels, recapitulating the decreasing patterns displayed in humans.

      However, another strain of inbred mice with a different mutation did not show an age-dependent decrease in VWF. Suggests strain-specific differences in regulation of VWF levels over time.

      Mvwf5 is a cis-regulatory variant altering Vwf mRNA expression.

      This is a natural variant of the Vwf allele among inbred strains of mice. Found this variant causes elevation in steady-state levels of Vwf mRNA.

      Authors state findings show equivalent of of type 1 VWD is remarkably common in mice and humans. ALso state the Mvwf1 analysis in wild mouse populations suggest this locus is under selective pressure.

      Of the 5 potential modifier loci identified, 3 display conservation of synteny with potential human modifier loci.

  2. Jul 2022
    1. recipe for scientific note-taking

      Notice that Beatrice Webb uses the modifier "scientific" to describe her note taking. She also indicates that note taking has a "scientific value".

  3. Jun 2021