While common genetic variants modestly affect the serum lipid concentrations, rare genetic mutations can cause monogenic forms of hypercholesterolemia and other genetic disorders of lipid metabolism. We aimed to
We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry...
annotation by LOFTEE (as implemented in the Variant Effect Predictor)56was applied to variants that passed all quality control filters, and the analysis was restricted to the canonical transcript with the most damaging annotation. The three broad types of coding ...
Major differences of TAF15-RNA complex profiles between TAF15 variants in presence and absence of isoproterenol were not evident. This indicates that neither PKA phosphorylation nor RRM deletion strongly affect the TAF15 RNA-binding capabil- ity. Next, we isolated high-molecular weight TAF15-RNA ...
In addition, a given habitat will often contain large numbers of microbial cells and this population will contain a pool of pcTR region-containing ORF (TR-ORF) variants, continually replenished by pcTR mutation. This provides an opportunity to use TR mutation for rapid adaptation if the habitat...
This way, many positional variants of the original amino acid sequence are synthesized and/or enzymatically prepared. A derivative or analogue can also be, for instance, generated by substitution of an L-amino acid residue with a D-amino acid residue. Such a substitution may improve a ...
A key concept in drug design is how natural variants, especially the ones occurring in the binding site of drug targets, affect the inter-individual drug response and efficacy by altering binding affinity. These effects have been studied on very limited
The development of genome-wide analysis tools has prompted global investigation of the gene expression program, revealing highly coordinated control mechanisms that ensure proper spatiotemporal activity of a cell’s macromolecular components. With respec
Bioinformatics analyses such as GO annotation, domain annotation, subcellular localization, kyoto encyclopedia of genes and genomes pathway annotation, and functional cluster analysis were performed to annotate the quantifiable lysine-acetylated targets in response to drug treatment. Based on the results, ...
miR-145 and miR20a-5p Potentially Mediate Pleiotropic Effects of Interferon-Beta Through Mitogen-Activated Protein Kinase Signaling Pathway in Multiple Scl... miR-145 and miR20a-5p Potentially mediate pleiotropic effects of interferon-beta through mitogen-activated protein kinase signaling pathway in ...