Bolshevik Revolution
What was the Bolshevik Revolution all about?
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Bolshevik Revolution
What was the Bolshevik Revolution all about?
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In Deutschland scheitert der Ausbau der Windkraft nach wie vor an Vorschriften und an mangelndem Engagement von Landes-, aber auch Bundesbehörden. Die taz dokumentiert die aktuelle Lage ausführlich, unter anderem mit einer interaktiven Karte, die zeigt, wo Windkraftanlagen möglich wären. Sie hat dazu Claudia Kemfert und Thorsten Lenk von Agora Energiewende befragt.
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: 5.1
AssayResultAssertion: Normal
StandardErrorMean: 0.56
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.3249G>C p.(Glu1083Asp)
Source Data
AssayResult: 96.22
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 16.7
Comment: Exact values reported in “Source Data” file. Discrepancy in “Supplementary Data 1” file: nucleotide reported as c.3191A>G.
Source Data
AssayResult: 80.95
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 0.01
StandardErrorMean: 0
Comment: Exact values reported in “Source Data” file. Discrepancy in “Supplementary Data 1” file: nucleotide reported as c.3191A>G.
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.3492G>T p.(W1164C)
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.3
AssayResultAssertion: Abnormal
ReplicateCount: 24
StandardErrorMean: 0.3
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.4283C>T p.(Ala1428Val)
RRID:ZDB-ALT-110706-57
DOI: 10.1016/j.celrep.2020.03.024
Resource: (ZFIN Cat# ZDB-ALT-110706-57,RRID:ZFIN_ZDB-ALT-110706-57)
Curator: @ethanbadger
SciCrunch record: RRID:ZFIN_ZDB-ALT-110706-57
RRID: ZDB-ALT-110706-57
DOI: 10.1016/j.celrep.2020.03.024
Resource: (ZFIN Cat# ZDB-ALT-110706-57,RRID:ZFIN_ZDB-ALT-110706-57)
Curator: @ethanbadger
SciCrunch record: RRID:ZFIN_ZDB-ALT-110706-57
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