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2661
From Cyanobacteria to Human, MAPEG-Type Glutathione-S-Transferases Operate in Cell Tolerance to Heat, Cold, and Lipid Peroxidation
Published 2019-09-01“…Also interestingly, the decreased resistance to heat, cold and n-tBOOH of the Δsll1147 mutant could be rescued back to normal (wild-type) levels upon the expression of synthetic MAPEG2-encoding human genes adapted to the cyanobacterial codon usage. These synthetic hmGST2 and hmGST3 genes were also able to increase the Escherichia coli tolerance to heat and n-tBOOH. …”
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2662
Characterization of the complete mitochondrial genome of the Meiren yak (Bos grunniens)
Published 2020-01-01“…The mitogenomic organization and codon usage are highly similar to those of previously published congeneric mitochondrial genomes. …”
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2663
Evaluation of Pathogenicity and Causativity of Variants in the <i>MPZ</i> and <i>SH3TC2</i> Genes in a Family Case of Hereditary Peripheral Neuropathy
Published 2023-06-01“…This study showed no effect of the <i>MPZ</i> variant on splicing, but the c.1177+5G>A variant in the <i>SH3TC2</i> gene leads to the retention of 122 nucleotides from intron 10 in the RNA sequence, causing a frameshift and an occurrence of a premature stop codon (NP_078853.2:p.Ala393GlyfsTer2).…”
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2664
The genetics and evolution of eye color in domestic pigeons (Columba livia).
Published 2021-08-01“…A nonsense mutation (W49X) leading to a premature stop codon in SLC2A11B was identified as the causal variant. …”
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2665
Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1)
Published 2020-06-01“…On genetic analysis by next generation sequencing, a novel homozygous missense variation in exon 19 of the ATP8B1 gene [chr18:g.55335672C>T; Depth: 71x] resulting in the amino acid substitution of Glutamic acid for Glycine at codon 733 [p.Gly733Glu;ENST00000536015.1], which was confirmed by sanger sequencing of parents. …”
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2666
Large-Scale Gene Discovery in the Oomycete Phytophthora infestans Reveals Likely Components of Phytopathogenicity Shared with True Fungi
Published 2005-03-01“…A unigene set of 18,256 sequences was derived from the EST and genomic data and characterized for potential functions, stage-specific patterns of expression, and codon bias. Cluster analysis of ESTs revealed major differences between the expressed gene content of mycelial and spore-related stages, and affinities between some growth conditions. …”
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2667
Current Understanding of Molecular Pathology and Treatment of Cardiomyopathy in Duchenne Muscular Dystrophy
Published 2015-05-01“…Several preclinical therapies are undergoing development, including utrophin up-regulation, stop codon read-through therapy, viral gene therapy, cell-based therapy and exon skipping. …”
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2668
Tanyptera (Tanyptera) hebeiensis Yang et Yang (Diptera: Tipulidae) newly recorded from Shandong, China: sequencing and phylogenetic analysis of the mitochondrial genome
Published 2021-01-01“…Stop codons of 10 PCGs are invariably complete TAA and TAG, while COII, ND4, and ND5 end with a single thymine stop codon. …”
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2669
Evolutionary shift from purifying selection towards divergent selection of SARS-CoV2 favors its invasion into multiple human organs
Published 2022-05-01“…Evolution of a critical entry-point residue Y493Q needs two substitutions with an intermediate virus carrying Y493H (Y>H>Q) but has not been identified in known twenty-nine bat CoV virus. Genetic codon analysis indicates that SARS-CoV2 evolution during propagation in human disobeys neutral evolution as nonsynonymous mutations surpass synonymous mutations with the increase of ω (dn/ds). …”
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2670
An equine herpesvirus type 1 (EHV-1) vector expressing Rift Valley fever virus (RVFV) Gn and Gc induces neutralizing antibodies in sheep
Published 2017-08-01“…The Gn and Gc genes were custom-synthesized after codon optimization and inserted into EHV-1 strain RacH genome. …”
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2671
Use of multiplex allele-specific polymerase chain reaction (MAS-PCR) to detect multidrug-resistant tuberculosis in Panama.
Published 2012-01-01“…DNA sequencing revealed 70.1% of MDR strains to have point mutations at codon 315 of the katG gene, 19.4% within mabA-inhA promoter, and 98.5% at three hotspots within rpoB. …”
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2672
Wiskott–Aldrich syndrome in a child presenting with macrothrombocytopenia
Published 2017-05-01“…Molecular studies revealed a novel hemizygous 1-bp deletion in WAS gene, c.802delC, leading to a frameshift and stop codon at amino acid 308 (p.Arg268Glyfs*40). Next-generation sequencing of a total of 70 additional genes known to harbor variants implicated in inherited platelet disorders did not identify additional defects. …”
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2673
Characterization of Novel <i>RHD</i> Allele Variants and Their Implications for Routine Blood Group Diagnostics
Published 2024-02-01“…One of the mutations is predicted to disrupt the terminal stop codon and result in an elongated translation of the mutant D protein that phenotypically exhibits a loss of D epitopes. …”
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2674
Identification and Functional Characterization of a Novel Variant in the SEMA3A Gene in a Chinese Family with Kallmann Syndrome
Published 2022-01-01“…A novel heterozygous variant (NM_006080.2 : c.814G > T) in SEMA3A was identified in the patient and his father, which caused the substitution of aspartic acid with tyrosine in codon 272. It was predicted to result in pathogenic significance with a high damaging score and seriously affect protein structure by bioinformatic analysis. …”
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2675
BE4max and AncBE4max Are Efficient in Germline Conversion of C:G to T:A Base Pairs in Zebrafish
Published 2020-07-01“…Our data also showed that AncBE4max produces fewer incorrect and bystander edits, suggesting that it can be further improved by codon optimization of its components for use in zebrafish.…”
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2676
Establishment of an Efficient Micropropagation System for <i>Humulus lupulus</i> L. cv. Cascade and Confirmation of Genetic Uniformity of the Regenerated Plants through DNA Markers
Published 2021-11-01“…The true-to-type nature of in vitro raised plants with the mother plant was assessed by Random Amplified Polymorphic DNA (RAPD) and Start Codon Target Polymorphism (SCoT) molecular markers, and then their genetic uniformity were confirmed.…”
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2677
The complete mitochondrial genome sequence of the hydrothermal vent galatheid crab <it>Shinkaia crosnieri </it>(Crustacea: Decapoda: Anomura): A novel arrangement and incomplete tR...
Published 2008-05-01“…We investigated the mitochondrial gene orders and found that at least six rearrangements from the ancestral pancrustacean (crustacean + hexapod) pattern have happened successively. The codon usage, nucleotide composition and bias show no substantial difference with other decapods. …”
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2678
In silico analysis and in planta production of recombinant ccl21/IL1β protein and characterization of its in vitro anti-tumor and immunogenic activity.
Published 2022-01-01“…This study aimed to produce epitopes of CCL21 and IL1β as a recombinant protein and characterize its in vitro anti-tumor and immunogenic activity. A codon-optimized ccl21/IL1β gene was designed and synthesized from human genes. …”
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2679
Design of two immunotoxins based rovalpituzumab antibody against DLL3 receptor; a promising potential opportunity
Published 2022-01-01“…Findings/Results: The bioinformatics analysis showed that Rova-GrB and Rova-Typh had hydrophilic properties, their codon optimization parameters were standard, validation parameters were improved after immunotoxin refinement, and docking analysis showed that the binding domain of immunotoxins could bind the N-terminal region of DLL3. immunotoxins had high expression and after purification under denaturing condition by Ni-NTA column, the immunotoxins were dialyzed against PBS buffer. …”
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2680
Newly discovered genomic mutation patterns in radiation-induced small intestinal tumors of ApcMin/+ mice.
Published 2023-01-01“…Among the small intestinal tumors that occur in irradiated mice of the established mouse model B6/B6-Chr18MSM-F1 ApcMin/+, loss of heterozygosity analysis can be utilized to estimate whether a deletion in the wild-type allele containing the Adenomatous polyposis coli (Apc) region (hereafter referred to as Deletion), a duplication in the mutant allele with a nonsense mutation at codon 850 of Apc (Duplication), or no aberration (Unidentified) has occurred. …”
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