21 Matching Annotations
  1. Dec 2024
    1. Following in the footsteps of the Mennonites, thousands of Volga Germans left Russia and settled in the United States.

      Who were/are the Volga Russians? How many immigrated to the US in this decade?

      Cite your source(s).

  2. Oct 2023
    1. after Jacob left Laban’s house with his wives Leah and Rachel. Laban pursued him to get back the idols that Rachel had stolen. After Laban was convinced that Jacob had not stolen his idols, Jacob and Laban make a covenant. “Jacob took a stone (ʼben) and set it up as a pillar (massebah) which would be a witness of the agreement they had made on that occasion (Genesis 31:44–45).
    2. There are several occasions where the massebah is not associated with pagan worship. When the massebah is associated with the worship of Yahweh, the massebah is accepted as a valid expression of commitment to Yahweh.

      Massebah for pagan worship: - Exodus 23:24 (https://hypothes.is/a/r3m5QmyDEe6SC8eLYcJE1Q) - Hosea 10:1 (https://hypothes.is/a/4PK2GGyDEe6wZg_r2YpVCA ) - 2 Kings 18:4 - 2 Kings 23:14

      Massebah for worship of Yahweh: - Genesis 28:18 Jacob's pillow (https://hypothes.is/a/NF5p8Gx6Ee65Rg_J4tfaMQ)<br /> - Genesis 31:44-45 Jacob and Laban's covenant - Exodus 24:4 - Joshua 24:25-27

  3. Mar 2023
  4. May 2022
  5. Feb 2022
  6. Jun 2021
  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: 4.6

      AssayResultAssertion: Normal

      StandardErrorMean: 0.57

    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.2852C>T p.(Ser951Phe)

    1. SUPPLEMENTARY DATA

      AssayResult: 83

      AssayResultAssertion: Not reported

      PValue: Not reported

      Approximation: Exact assay result value not reported; value estimated from Figure 6C.

    2. SUPPLEMENTARY DATA

      AssayResult: -21

      AssayResultAssertion: Indeterminate

      PValue: < 0.01

    3. SUPPLEMENTARY DATA

      AssayResult: 109.7

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

    4. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.956C>A p.(Ser319Tyr)

    1. Source Data

      AssayResult: 99.69

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 3.09

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

    2. Source Data

      AssayResult: 76.97

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 3.1

      StandardErrorMean: 2.19

      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.3119T>C p.(L1040S)

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

      AssayResult: 12

      AssayResultAssertion: Abnormal

      ReplicateCount: 10

      StandardErrorMean: 2.2

      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.4035G>T p.(Trp1345Cys)

  8. Feb 2021
    1. Supplemental material

      AssayResult: 78

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    2. Supplemental material

      AssayResult: 5.1

      AssayResultAssertion: Abnormal

      Comment: See Table S3 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.833C>G p.(Pro278Arg)