Biochemical Characterization of Disease-Associated Variants of Human Ornithine Transcarbamylase
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DOI: 10.1021/acschembio.5c00043
Abstract: Human ornithine transcarbamylase deficiency (OTCD) is the most common ureagenesis disorder in the world. OTCD is an X-linked genetic deficiency in which patients experience hyperammonemia to varying degrees depending on the severity of the genetic… read more here.
Keywords: disease; human ornithine; ornithine transcarbamylase; associated variants ... See more keywords
The Frequency of Common Deafness-Associated Variants Among 3,555,336 Newborns in China and 141,456 Individuals Across Seven Populations Worldwide
Sign Up to like & getrecommendations! Published in 2022 at "Ear and Hearing"
DOI: 10.1097/aud.0000000000001274
Abstract: Objectives: Genetic screening can benefit early detection and intervention for hearing loss. The frequency of common deafness-associated variants in general populations is highly important for genetic screening and genetic counseling tailored to different ethnic backgrounds.… read more here.
Keywords: common deafness; associated variants; deafness associated; population ... See more keywords
Ultra‐deep sequencing analysis of resistance‐associated variants during retreatment with simeprevir‐based triple therapy after failure of telaprevir‐based triple therapy in patients with genotype 1 hepatitis C virus infection
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DOI: 10.1111/hepr.12817
Abstract: Simeprevir (SMV)‐based triple therapy is an effective retreatment option following failure of telaprevir (TVR)‐based triple therapy. However, it is unclear whether the persistence of resistance‐associated variants (RAVs) induced by TVR‐based therapy may reduce the treatment… read more here.
Keywords: based triple; triple therapy; associated variants; failure telaprevir ... See more keywords
Effects of Coronary Artery Disease–Associated Variants on Vascular Smooth Muscle Cells
Sign Up to like & getrecommendations! Published in 2022 at "Circulation"
DOI: 10.1161/circulationaha.121.058389
Abstract: Background: Genome-wide association studies have identified many genetic loci that are robustly associated with coronary artery disease (CAD). However, the underlying biological mechanisms are still unknown for most of these loci, hindering the progress to… read more here.
Keywords: trait locus; quantitative trait; associated variants; cad ... See more keywords
No Pain, No Gain of Function: Epilepsy-Associated Variants in SCN2A Defy Classification
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DOI: 10.1177/15357597231225565
Abstract: Epilepsy-Associated SCN2A (NaV1.2) Variants Exhibit Diverse and Complex Functional Properties Thompson CH, Potet F, Abramova TV, DeKeyser JM, Ghabra NF, Vanoye CG, Millichap JJ, George AL. J Gen Physiol. 2023;155(10):e202313375. doi:10.1085/jgp.202313375. PMID: 37578743; PMCID: PMC10424433… read more here.
Keywords: gain function; function; associated variants; patch clamp ... See more keywords
Real-life prevalence of resistance-associated variants against non-structural protein 5A inhibitors and efficiency of Daclatasvir + Asunaprevir therapy in Korean patients with genotype 1b hepatitis C
Sign Up to like & getrecommendations! Published in 2017 at "Virology Journal"
DOI: 10.1186/s12985-017-0826-1
Abstract: BackgroundDirect-acting antivirals (DAAs) for chronic hepatitis C (CHC) treatment are tolerable and highly effective in a shorter period of time than before. However, resistance-associated variants (RAVs) can affect the efficacy of DAAs. The aim of… read more here.
Keywords: hepatitis; treatment; patients genotype; associated variants ... See more keywords
Codes between Poles: Linking Transcriptomic Insights into the Neurobiology of Bipolar Disorder
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DOI: 10.3390/biology13100787
Abstract: Simple Summary Bipolar disorder is a psychiatric condition in which one prominent symptom is the regular occurrence of mood swings. Its root cause remains unclear; thus, this study was intended to provide new insights to… read more here.
Keywords: disorder; associated variants; neurobiology; disease associated ... See more keywords