Membrane Anchorage‐Induced (MAGIC) Knockdown of Non‐synonymous Point Mutations **
Sign Up to like & getrecommendations! Published in 2022 at "ChemBioChem"
DOI: 10.1002/cbic.202100637
Abstract: The promise of personalized medicine for monogenic and complex polygenic diseases depends on the availability of strategies for targeted inhibition of disease‐associated polymorphic protein variants. Loss of function variants, including non‐synonymous single nucleotide variants (nsSNVs)… read more here.
Keywords: membrane anchorage; non synonymous; magic knockdown; anchorage induced ... See more keywords
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
Non-synonymous mutations of SARS-CoV-2 leads epitope loss and segregates its variants
Sign Up to like & getrecommendations! Published in 2020 at "Microbes and Infection"
DOI: 10.1016/j.micinf.2020.10.004
Abstract: The non-synonymous mutations of SARS-CoV-2 isolated from across the world have been identified during the last few months. The surface glycoprotein spike of SARS-CoV-2 forms the most important hotspot for amino acid alterations followed by… read more here.
Keywords: mutations sars; synonymous mutations; loss; epitope loss ... See more keywords
Adaptive evolution of proteins in hepatitis B virus during divergence of genotypes
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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
Whole genome sequencing and protein structure analyses of target genes for the detection of Salmonella
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-00224-7
Abstract: Rapid and sensitive detection of Salmonella is a critical step in routine food quality control, outbreak investigation, and food recalls. Although various genes have been the targets in the design of rapid molecular detection methods… read more here.
Keywords: detection; target genes; salmonella; detection salmonella ... 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
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 (PKCε) 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
De novo non-synonymous CTR9 variants are associated with motor delay and macrocephaly: human genetic and zebrafish experimental evidence.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac136
Abstract: CTR9 is one of five genes that form the PAF1 complex, which binds to RNA polymerase II and plays critical roles in transcriptional elongation and transcription-coupled histone modifications including histone H3K4me3 and H3K36me3. In this… read more here.
Keywords: human ctr9; ctr9; non synonymous; zebrafish ... See more keywords
De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac166
Abstract: Collapsin response mediator protein 2 (Crmp2) is an evolutionarily well-conserved tubulin-binding cytosolic protein that plays critical roles in the formation of neural circuitry in model organisms including zebrafish and rodents. No clinical evidence that CRMP2… read more here.
Keywords: novo non; non synonymous; two patients; transfection experiments ... See more keywords
Functional non-synonymous variants of ABCG2 and gout risk
Sign Up to like & getrecommendations! Published in 2017 at "Rheumatology"
DOI: 10.1093/rheumatology/kex295
Abstract: Objectives Common dysfunctional variants of ATP binding cassette subfamily G member 2 (Junior blood group) (ABCG2), a high-capacity urate transporter gene, that result in decreased urate excretion are major causes of hyperuricemia and gout. In… read more here.
Keywords: risk; variants abcg2; common rare; gout ... See more keywords
The importance of mRNA structure in determining the pathogenicity of synonymous and non‐synonymous mutations in haemophilia
Sign Up to like & getrecommendations! Published in 2017 at "Haemophilia"
DOI: 10.1111/hae.13107
Abstract: Mutational analysis is commonly used to support the diagnosis and management of haemophilia. This has allowed for the generation of large mutation databases which provide unparalleled insight into genotype–phenotype relationships. Haemophilia is associated with inversions,… read more here.
Keywords: synonymous non; synonymous mutations; mrna structure; structure determining ... See more keywords