Bioinformatics analysis of non-synonymous variants in the KLF genes related to cardiac diseases.
Sign Up to like & getrecommendations! Published in 2018 at "Gene"
DOI: 10.1016/j.gene.2018.01.085
Abstract: Kruppel-like Factors (KLF) are responsible for regulating many genes involved in physiological and pathological processes. They are characterized by three conserved zinc-fingers in the DNA-binding domain, wherein mutations could affect the binding efficiency and transcription… read more here.
Keywords: related cardiac; cardiac diseases; bioinformatics analysis; synonymous variants ... See more keywords
Adaptive evolution of proteins in hepatitis B virus during divergence of genotypes
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-02012-8
Abstract: Hepatitis B virus (HBV) is classified into several genotypes, correlated with different geographic distributions, clinical outcomes and susceptible human populations. It is crucial to investigate the evolutionary significance behind the diversification of HBV genotypes, because… read more here.
Keywords: hbv; adaptive evolution; hepatitis virus; synonymous variants ... See more keywords
Identification of novel non-synonymous variants associated with type 2 diabetes-related metabolites in Korean population
Sign Up to like & getrecommendations! Published in 2019 at "Bioscience Reports"
DOI: 10.1042/bsr20190078
Abstract: Abstract Metabolome-genome wide association studies (mGWASs) are useful for understanding the genetic regulation of metabolites in complex diseases, including type 2 diabetes (T2D). Numerous genetic variants associated with T2D-related metabolites have been identified in previous… read more here.
Keywords: variants associated; type diabetes; synonymous variants; related metabolites ... See more keywords
The impact of non-neutral synonymous mutations when inferring selection on non-synonymous mutations.
Sign Up to like & getrecommendations! Published in 2025 at "Genetics"
DOI: 10.1093/genetics/iyaf200
Abstract: Abstract The distribution of fitness effects (DFE) describes the proportions of new mutations that have different effects on fitness. Accurate measurements of the DFE are important because the DFE is a fundamental parameter in evolutionary… read more here.
Keywords: genetics; synonymous mutations; selection synonymous; selection ... See more keywords
Influence of PRKCE non-synonymous variants on protein dynamics and functionality.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac029
Abstract: Novel protein kinase C (nPKC) family member, Protein kinase C epsilon (PKCĪµ) is an AKC kinase superfamily member. It is associated with neurological and metabolic diseases as well as human cancer. No study so far… read more here.
Keywords: non synonymous; kinase; protein dynamics; protein ... See more keywords
Synonymous Variants: Necessary Nuance in our Understanding of Cancer Drivers and Treatment Outcomes.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of the National Cancer Institute"
DOI: 10.1093/jnci/djac090
Abstract: Once called "silent mutations" and assumed to have no effect on protein structure and function, synonymous variants are now recognized to be drivers for some cancers. There have been significant advances in our understanding of… read more here.
Keywords: function; variants necessary; treatment; synonymous variants ... See more keywords
Human Genetics and Dyslipidemia: From Non-synonymous Variants to Non-coding Variants
Sign Up to like & getrecommendations! Published in 2023 at "Physiology"
DOI: 10.1152/physiol.2023.38.s1.5731948
Abstract: Dyslipidemia has strong heritability, with over 50% of dyslipidemia is caused by genetics in general population. Previously studies identify many non-synonymous variants in genes of LDLR, PCSK9, ANGPTL3, ABCG5/8, ARH et.al, which lay the fundation… read more here.
Keywords: non synonymous; physiology; dyslipidemia; cholesterol ... See more keywords
Predicting Functional Effects of Synonymous Variants: A Systematic Review and Perspectives
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2019.00914
Abstract: Recent advances in high-throughput experimentation have put the exploration of genome sequences at the forefront of precision medicine. In an effort to interpret the sequencing data, numerous computational methods have been developed for evaluating the… read more here.
Keywords: synonymous variants; ssnv effects; variants systematic; effects synonymous ... See more keywords
Systematic errors in annotations of truncations, loss-of-function and synonymous variants
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2023.1015017
Abstract: Description of genetic phenomena and variations requires exact language and concepts. Vast amounts of variation data are produced with next-generation sequencing pipelines. The obtained variations are automatically annotated, e.g., for their functional consequences. These tools… read more here.
Keywords: systematic errors; errors annotations; synonymous variants; loss function ... See more keywords
Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2022.838983
Abstract: Background The incorrect interpretation of missense and synonymous variants can lead to improper molecular diagnosis and subsequent faulty genetic counselling. The aim of this study was to evaluate the pathogenicity of presumed COL4A3/COL4A4 missense and… read more here.
Keywords: missense synonymous; presumed col4a3; col4a4; col4a3 col4a4 ... See more keywords