15 Matching Annotations
  1. Dec 2024
    1. The Russian famine of 1891–1892 caused up to half a million deaths, stirring popular discontent against the Tsarist regime. The United States, especially the American Red Cross, provided famine relief to Russia

      Half a million deaths. What percentage of the Russian population was that in 1891/1892?

  2. Apr 2023
  3. 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: 6

      AssayResultAssertion: Normal

      StandardErrorMean: 0.13

    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.2993G>A p.(Gly998Glu)

    1. Source Data

      AssayResult: 108.56

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 19.59

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

    2. Source Data

      AssayResult: 91.21

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 7.32

      StandardErrorMean: 5.18

      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.3152T>G p.(I1051S)

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

      AssayResult: 102.6

      AssayResultAssertion: Normal

      ReplicateCount: 31

      StandardErrorMean: 16.5

      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)

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

      HGVS: NM_198056.2:c.4057G>A p.(Val1353Met)

  4. Feb 2021
    1. Supplemental material

      AssayResult: 98

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    2. Supplemental material

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    3. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.845G>C p.(Arg282Pro)