mirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications
Sign Up to like & getrecommendations! Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23125
Abstract: Exome sequencing has been widely used to identify the genetic variants underlying human genetic disorders for clinical diagnoses, but the identification of pathogenic sequence variants among the huge amounts of benign ones is complicated and… read more here.
Keywords: exome sequencing; pathogenic sequence; web server; sequence variants ... See more keywords
Non-coding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.
Sign Up to like & getrecommendations! Published in 2021 at "Human mutation"
DOI: 10.1002/humu.24281
Abstract: N-acetylglutamate synthase deficiency (NAGSD, MIM #237310) is an autosomal recessive urea cycle disorder caused either by decreased expression of the NAGS gene or defective NAGS enzyme resulting in decreased production of N-acetylglutamate (NAG), an allosteric… read more here.
Keywords: acetylglutamate synthase; non coding; sequence variants; coding sequence ... See more keywords
Population‐based screening of Uruguayan Ashkenazi Jews for recurrent BRCA1 and BRCA2 pathogenic sequence variants
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1928
Abstract: In Ashkenazi Jews (AJ) three recurring pathogenic sequence variants (PSVs) are detected in ~2.5% of the general population in the BRCA1 (c.68_69del = 185delAG, c.5266dup = 5382insC), and BRCA2 (c.5946del = 6174delT). Population‐based screening for… read more here.
Keywords: pathogenic sequence; ashkenazi jews; based screening; population based ... See more keywords
The use of segregation analysis in interpretation of sequence variants in SMAD3: A case report
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2107
Abstract: While representing a significant improvement, the introduction of next‐generation sequencing in genetic diagnosis also prompted new challenges. Despite widely recognized consensus guidelines for the interpretation of sequence variants, many variants remain unclassified or are discordantly… read more here.
Keywords: sequence variants; interpretation sequence; segregation analysis;
Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolism.
Sign Up to like & getrecommendations! Published in 2021 at "Biochimie"
DOI: 10.1016/j.biochi.2021.02.002
Abstract: Glycine conjugation is an important phase II reaction and represents a central detoxification pathway which is essential for the recycling of free coenzyme A. Only few sequence variants have been reported in the human GLYAT… read more here.
Keywords: glyat; type enzyme; activity; sequence variants ... See more keywords
Detecting personal microbiota signatures at artificial crime scenes.
Sign Up to like & getrecommendations! Published in 2020 at "Forensic science international"
DOI: 10.1016/j.forsciint.2020.110351
Abstract: When mapped to the environments we interact with on a daily basis, the 36 million microbial cells per hour that humans emit leave a trail of evidence that can be leveraged for forensic analysis. We… read more here.
Keywords: microbiota; time; sequence variants; detecting personal ... See more keywords
Detecting sequence variants in clinically important protozoan parasites.
Sign Up to like & getrecommendations! Published in 2019 at "International journal for parasitology"
DOI: 10.1016/j.ijpara.2019.10.004
Abstract: Second and third generation sequencing methods are crucial for population genetic studies, and variant detection is a popular approach for exploiting this sequence data. While mini- and microsatellites are historically useful markers for studying important… read more here.
Keywords: important protozoan; clinically important; sequence variants; detecting sequence ... See more keywords
P-glycoprotein-9 and macrocyclic lactone resistance status in selected strains of the ovine gastrointestinal nematode, Teladorsagia circumcincta
Sign Up to like & getrecommendations! Published in 2018 at "International Journal for Parasitology: Drugs and Drug Resistance"
DOI: 10.1016/j.ijpddr.2018.01.004
Abstract: The Teladorsagia circumcincta P-glycoprotein-9 (Tci-pgp-9) gene has previously been implicated in multiple-anthelmintic resistance in this parasite. Here we further characterise genetic diversity in Tci-pgp-9 and its possible role in ivermectin (IVM) and multi-drug resistance using… read more here.
Keywords: teladorsagia circumcincta; sequence variants; resistance; tci pgp ... See more keywords
Spectrum of CFTR gene sequence variants in a northern Portugal population.
Sign Up to like & getrecommendations! Published in 2018 at "Pulmonology"
DOI: 10.1016/j.pulmoe.2017.12.007
Abstract: In Portugal, the spectrum of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variants is not known. The main objective of this work was to determine the type and frequency of CFTR variants in a sample… read more here.
Keywords: cftr; spectrum; sequence variants; cftr gene ... See more keywords
Multiple Sequence Variants in STAC3 Affect Interactions with CaV1.1 and Excitation-Contraction Coupling.
Sign Up to like & getrecommendations! Published in 2020 at "Structure"
DOI: 10.1016/j.str.2020.05.005
Abstract: STAC3 is a soluble protein essential for skeletal muscle excitation-contraction (EC) coupling. Through its tandem SH3 domains, it interacts with the cytosolic II-III loop of the skeletal muscle voltage-gated calcium channel. STAC3 is the target… read more here.
Keywords: contraction coupling; multiple sequence; sh3 domains; sequence variants ... See more keywords
Bridging the Chromosome-centric and Biology/Disease-driven Human Proteome Projects: Accessible and Automated Tools for Interpreting the Biological and Pathological Impact of Protein Sequence Variants Detected via Proteogenomics.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of proteome research"
DOI: 10.1021/acs.jproteome.8b00404
Abstract: The Chromosome-centric Human Proteome Project (C-HPP) seeks to comprehensively characterize all protein products coded by the genome, including those expressed sequence variants confirmed via proteogenomics methods. The closely related Biology/Disease-driven Human Proteome Project (B/D-HPP) seeks… read more here.
Keywords: via proteogenomics; human proteome; protein sequence; sequence variants ... See more keywords