Additionally, we observed a significant association between rs10224210, a genetic variant identified in eGFR GWAS6, and the expression of the PRKAG2 gene. These findings suggest a potential involvement of the identified DARs in modulating kidney function and kidney disease development. In summary, ...
Additionally, when aligning AD-associated variants from the Alzheimer’s Disease Variant Portal (ADVP) [25] to DAS in both cell types, most variants were located within DAS in iMG, mirroring those in pMG, as illustrated in Fig.2G. This suggests that our iMG can serve as model system to ...
To validate the use of the artificial construct as a target for large-scale X-ray and NMR screening campaigns in the search for new inhibitors of hQC, the X-ray crystal structures of the hQC Y115E–Y117E variant and of its adduct with the inhibitor PBD-150 were determined....
. Inadvertently interpreting the NUMT sequence as a mtDNA variant could confound the diagnosis of mitochondrial diseases12and raise questions about the possible paternal inheritance of mtDNA13. Large-scale WGS projects present an opportunity to characterize human NUMTs in greater depth than in other spec...
The complex biological mechanisms underlying human brain aging remain incompletely understood. This study investigated the genetic architecture of three brain age gaps (BAG) derived from gray matter volume (GM-BAG), white matter microstructure (WM-BAG),
SARS-CoV-2 ORF3b is a potent interferon antagonist whose activity is increased by a naturally occurring elongation variant. Cell Rep. 32, 108185 (2020). Article CAS Google Scholar Jones, B. C., Calà, G., De Coppi, P. & Giobbe, G. G. Paediatric gastric organoids as a tool for ...
Among others, the quality measures included analyses of variant abundance on a single-sample level and its dependency on the GC-content of the randomized sequence motif. The analyses demonstrated that sample-to-sample fluctuation was low and that no GC-dependency (which could indicate potential ...
“eGenes” in eQTL mapping. For each window, fastQTL computes the lowest variant-levelp-value and uses permutations to calculate the probability of observing a variant with equal or lowerp-value under the scenario of no association, followed by beta approximation. Adaptive permutation parameter “...
(Fig.5E) could not fully explain the weaker radial bias away from the meridians. Similarly, a fine-scale columnar bias could potentially cause voxel preference to deviate from the radial orientation, but we would expect such an effect to take place uniformly across all polar angles. Instead, ...
Human cytomegalovirus (CMV) causes a wide array of disease to diverse populations of immune-compromised individuals. Thus, a more comprehensive understanding of how CMV enters numerous host cell types is necessary to further delineate the complex nature