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 identify low-frequency protein-altering variants (PAVs) affecting lipoprotein and lipid traits....
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...
There is ample evidence that specific nutritional strategies can enhance adaptions to resistance and endurance training. However, it is still unclear whether post-session protein supplementation may increase the effects of low-volume high-intensity inter
Additionally, structure-function stud- ies identified –Syn regions that play a role in aggregation and neurotoxicity in flies [68], while –Syn variants generated by ra- tional design demonstrated that mutants with impaired ß-state struc- ture (surprisingly) exhibit high...
The CLIP-based techniques and their variants have been extensively used dur-ing the last few years to map the RNA targets and binding sites of several RBPs in human and murine cell lines and tissues. This includes miRISC components (48, 52, 53) , the Pumilio and FBF [Fem-3 binding ...
Aberrant regulation of miRNA genes contributes to pathogenesis of a wide range of human diseases, including cancer. The TAR DNA binding protein 43 (TDP-43)
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 ...
It is also a preclinical lead for cancer immunotherapy and other therapeutic indications. Yet nothing is known about the conformation of bryostatin bound to its protein kinase C (PKC) target in a membrane microenvironment. As a result, efforts to design more efficacious, better tolerated, or more...
Briefly, for single nucleotide variants, we moved mutations uniformly at random within the same gene but matched the same nucleotide context as the observed mutation (C∗pG, CpG∗, TpC∗, G∗pA, A, C, G, T). Indels were moved within the same gene without regard for the flanking ...
For these findings, like most genome-wide association study (GWAS) results, it has proven challenging to infer the functional consequences of common variant associations3 beyond cases where protein-altering variants have been directly implicated. Protein-truncating variants (PTVs), also commonly ...