23 Matching Annotations
  1. Dec 2024
  2. Mar 2024
  3. Feb 2024
  4. Mar 2023
  5. Oct 2022
  6. Sep 2022
  7. Mar 2021
    1. Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).

      AssayResult: 4

      AssayResultAssertion: Indeterminate

      StandardErrorMean: 0.1

    1. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 102.4

      AssayResultAssertion: Normal

      ReplicateCount: 39

      StandardErrorMean: 15.5

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

  8. Feb 2021
  9. Dec 2018
    1. And I know that the record which I make is true. And I make it with mine own hand and I make it according to my knowledge.

      In the first paragraph there is an evocation of the triad of First Principles: Mythos, Typos, Logos (GOD, Place, Word) The Mythic moves and opens up spaces. From that spatial existence known by/as Persons and Places come Things - works/words, art/artifacts, etc. Myths open spaces and rational accounts limit them. These are two parts of one eternal process. Mythos creates space through its mysterious movements. Then within the spatial existence opened by Mythos we have a spatial/special relationship between Peope & Place which always begins to generate Names and other Words. From there the Spirit continues to flow through linguistic channels (Logos) and finally deposited back into the realm of Myth to begin again. [If at any point in this process there is a failure to complete and continue the cycle then what comes about is "vain imaginings" as opposed to the reimagining encouraged on this site. This will be a major theme throughout the BOM.]

      Limitation - One man's account, one man's knowledge. The content itself is a product of the quality of experience and great knowledge accumulated through the person of Nephi (who is likely a higher dimensional type for millions of others who share to some degree in the experience of "favor" and "goodness" on any and all planes). The accuracy of recording relies on the "Learning of the Jews" (Scientific Judgements and Measurements of Truth) and the "Language of the Egyptians" (Science of Expression of Truth through Active Arts).<br> Compare Alma 32:26-43