Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23609
Abstract: Additional variant interpretation tools are required to effectively harness genomic sequencing for clinical applications. The American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) published guidelines for clinical sequence variant… read more here.
Keywords: interpretation; functional evidence; variants uncertain; uncertain significance ... See more keywords
Structural and Functional Evidence for Citicoline Binding and Modulation of 20S Proteasome Activity: Novel Insights into its Pro-Proteostatic Effect.
Sign Up to like & getrecommendations! Published in 2020 at "Biochemical pharmacology"
DOI: 10.1016/j.bcp.2020.113977
Abstract: Citicoline or CDP-choline is a drug, made up by a cytidine 5'-diphosphate moiety and choline, which upon adsorption is rapidly hydrolyzed into cytidine 5'-diphosphate and choline, easily bypassing the blood-brain barrier. Once in the brain,… read more here.
Keywords: citicoline; functional evidence; structural functional; 20s proteasome ... See more keywords
Non-invasive vagus nerve stimulation modulates trigeminal but not somatosensory perception: functional evidence for a trigemino-vagal system in humans.
Sign Up to like & getrecommendations! Published in 2022 at "Pain"
DOI: 10.1097/j.pain.0000000000002595
Abstract: ABSTRACT Non-invasive vagus nerve stimulation (nVNS) is effective in several types of headache disorders. We sought to unravel the mechanism of how nVNS exhibits this efficacy. This study used a randomized, single-blind, sham-controlled, crossover-design, and… read more here.
Keywords: non invasive; trigemino vagal; vagus nerve; nerve stimulation ... See more keywords