- Mar 2025
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Study: Functional study
Model: HEK293 cell lines
Variant: VWF NM_000552.5: c.7664C>G, p.(Pro2555Arg), described as GOF mutation
rare missense variant, MAF = 0.00007
RefSNP_ID:rs915754316
Not reported in ClinVar
Cells lines were transfected and expressed one of the following: wtVWF, p.Pro2555Arg, both variants, or a negative control variant p.Asp2509Glu
Main result:
p.Pro2555Arg is the first VWF GOF variant that increases platelet aggregate size (AS), which is shear-dependent and independent of fibrinogen (fb). May provide a novel risk factor for thromboembolic disease.
Additional results:
Variant does not affect the binding affinity of the C4 domain for BPIIb/IIIa
VWF stem region mutations can enhance VWF's prothrombotic properties
C4 domain of VWF may be a novel antithrombotic drug target.
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- Jun 2021
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pganalyze.com pganalyze.com
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When you are dealing with an aggregate of aggregates, it needs to be accomplished in two steps. This can be done using a subquery as the FROM clause, essentially giving us a temporary table to then select from, allowing us to find the average of those averages.
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www.compose.com www.compose.com
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This is an important one, as it will enable us to use the aggregate functions that we are familiar when dealing with relational databases, but in the otherwise counter-intuitive environment of JSON data.
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- Apr 2021
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psyarxiv.com psyarxiv.com
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Keshmirian, A., Bahrami, B., & Deroy, O. (2021, April 27). Many Heads Are More Utilitarian Than One. https://doi.org/10.31234/osf.io/7e3dc
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- Oct 2020
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covid-19.iza.org covid-19.iza.org
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IZA – Institute of Labor Economics. ‘COVID-19 and the Labor Market’. Accessed 6 October 2020. https://covid-19.iza.org/publications/dp13643/.
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- Nov 2017
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Gene Set Enrichment Analysis Made Simple
using aggregate t or chi^2 statistic to test if a set of genes is on aggregate differentially expressed
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