9 Matching Annotations
  1. Jan 2025
  2. 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: 0.16

    2. A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected

      HGVS: NM_024675.3:c.3278T>C p.(Ile1093Thr)

    1. Source Data

      AssayResult: 102.88

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 20.71

      Comment: Exact values reported in “Source Data” file.

    2. Source Data

      AssayResult: 90.54

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 10.24

      StandardErrorMean: 7.24

      Comment: Exact values reported in “Source Data” file.

    3. We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3520G>A p.(G1174R)

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

      AssayResult: 10.2

      AssayResultAssertion: Abnormal

      ReplicateCount: 12

      StandardErrorMean: 3.4

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    2. we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.4346A>G p.(Tyr1449Cys)

  3. Sep 2018
    1. The honorable member has taken occasion to find fault with the clause of the resolutions which provides that the lieutenant-governors shall be appointed by the Central Government, and sees in it great danger, especially to Lower Canada. Mr. SPEAKER, I should very much like to know what protection the population of the different provinces derive from the fact that the governors of the British North American Provinces are sent out to us from England. Under the existing system, our governor is responsible neither to the people nor to the House ; he depends entirely upon the English Government, to which he is responsible. Under the system proposed the lieutenant-governors will be appointed by the Central Government, to which they will necessarily be responsible for their actions. And in that Government we shall have more than one vote ; we shall be represented in it by our ministers, who will be there to cause every encroachment or arbitrary act which the lieutenant-governor may allow himself to commit, to be condemned.

      §§.58, 59, and 60 of the Constitution Act, 1867.