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3861
Development of specific monoclonal antibodies for the detection of natural chicken tumor necrosis factor-alpha
Published 2022-12-01“…In this study, the extracellular domain of chTNF-α was cloned into prokaryotic vector after codon optimization and recombinant chTNF-α protein was expressed. …”
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3862
Molecular analysis of pyrazinamide resistance in Mycobacterium tuberculosis in Vietnam highlights the high rate of pyrazinamide resistance-associated mutations in clinical isolates...
Published 2017-01-01“…Among the 16 novel mutations, 14 are likely to be linked to PZA resistance because of their mutation types or codon positions. Genotype analysis revealed that PZA resistance can emerge in any M. tuberculosis cluster or family, although the mutation frequency was the highest in Beijing family isolates (47.7%, 62 out of 130 isolates). …”
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3863
Screening chimeric GAA variants in preclinicalstudy results in hematopoietic stem cell genetherapy candidate vectors for Pompe disease
Published 2022-12-01“…Lentiviral vector-mediated hematopoietic stem and progenitor cell (HSPC) gene therapy was investigated in a Pompe mouse model using a clinically relevant promoter driving nine engineered GAA coding sequences incorporating distinct peptide tags and codon optimizations. Vectors solely including glycosylation-independent lysosomal targeting tags enhanced secretion and improved reduction of glycogen, myofiber, and CNS vacuolation in key tissues, although GAA enzyme activity and protein was consistently lower compared with native GAA. …”
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3864
Epidemiology and Evolution of Emerging Porcine Circovirus-like Viruses in Pigs with Hemorrhagic Dysentery and Diarrhea Symptoms in Central China from 2018 to 2021
Published 2021-11-01“…The PR2 plot, ENC-plot and neutrality analysis showed a greater role of natural selection than that of mutational pressure in the formation of codon usage patterns. This study is the first to identify PCLV in sows with hemorrhagic dysentery and death, and it provides new epidemiological information on PCLV infection in pigs in China.…”
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3865
Novel alleles in the era of next-generation sequencing-based HLA typing calls for standardization and policy
Published 2023-10-01“…All novelties were single nucleotide polymorphisms, where more than half led to an amino acid change, and one resulted in a premature stop codon. Missense mutations were evaluated for changes in their amino acid properties to assess the potential effect on the novel HLA protein. …”
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3866
GDAP1 Involvement in Mitochondrial Function and Oxidative Stress, Investigated in a Charcot-Marie-Tooth Model of hiPSCs-Derived Motor Neurons
Published 2021-08-01“…At mRNA level, we observed that, in normal subjects, <i>GDAP1</i> is mainly expressed in motor neurons, while it is drastically reduced in the patient’s cells containing a premature termination codon (PTC), probably degraded by the nonsense-mediated mRNA decay (NMD) system. …”
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3867
Cell-Free Systems Enable the Production of AB<sub>5</sub> Toxins for Diagnostic Applications
Published 2022-03-01“…Further, we performed a mutational analysis of the CtxA subunit as its template was modified, and an amber stop codon was inserted into CtxA’s active site. Subsequently, a non-canonical amino acid was site-specifically incorporated using bio-orthogonal systems. …”
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3868
Anticipation, anti-glaucoma drug treatment response and phenotype of a Chinese family with glaucoma caused by the Pro370Leu myocilin mutation
Published 2014-02-01“…Mutation screening indentified a heterozygous C→T missense mutation in the MYOC gene at position 1 109 in exon 3, corresponding to a substitution of a highly conserved proline to leucine at codon 370 in the olfactomedin domain of MYOC.<b>CONCLUSION:</b> The clinical characteristics of JOAG in this family were 1) genetics anticipation; 2) high IOP; 3) temporay response to anti-glaucoma drugs; 4) filtering surgery produced thin-walled and saccate filtering blebs, helping maintain lower IOP.…”
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3869
Genetic Characterization of Some Saudi Arabia’s Accessions from <i>Commiphora gileadensis</i> Using Physio-Biochemical Parameters, Molecular Markers, DNA Barcoding Analysis and Rel...
Published 2022-11-01“…Genetic characterization was carried out using physio-biochemical parameters, molecular markers (inter-simple sequence repeat (ISSR) and start codon targeted (SCoT)), DNA barcoding (18 S rRNA and ITS rDNA regions), relative gene expressions (phenylalanine ammonia-lyase 1 (PAL1), defensin (PR-12)) and pathogenesis-related protein (AFPRT). …”
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3870
Antibody fragments functionalized with non-canonical amino acids preserving structure and functionality - A door opener for new biological and therapeutic applications
Published 2023-12-01“…Therefore, FTN2Azk variants with different Azk incorporation sites were designed and amber codon suppression was used for production. The functionalized FTN2Azk variants were efficiently produced in fed-batch like μ-bioreactor cultivations in the periplasm of E. coli displaying correct structure and antigen binding affinities comparable to those of wild-type FTN2. …”
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3871
Phenotypic resistance not associated with knockdown mutations (kdr) in Anopheles albimanus exposed to deltamethrin in southern coastal Ecuador
Published 2024-01-01“…Sequencing the voltage gated sodium channel gene (VGSC) sought knockdown mutations (kdr) in codons 1010, 1013 and 1014 associated with resistance. …”
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3872
Quantitative Trait Loci (QTL) Analysis of Seed Protein and Oil Content in Wild Soybean (<i>Glycine soja</i>)
Published 2023-02-01“…Based on these results, two genes, <i>Glyma.20g088000</i> (S-adenosyl-<span style="font-variant: small-caps;">l</span>-methionine-dependent methyltransferases) and <i>Glyma.20g088400</i> (oxidoreductase, 2-oxoglutarate-Fe(II) oxygenase family protein), in which the amino acid sequence had changed and a stop codon was generated due to an InDel in the exon region, were identified.…”
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3873
Genome mining reveals abiotic stress resistance genes in plant genomes acquired from microbes via HGT
Published 2022-11-01“…Deep-learning-based protein structure prediction and analyses, in combination with expression assessment based on codon adaption index (CAI) further corroborated the functionality and expressivity of the HGT genes in plant genomes. …”
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3874
Identification of a metastatic lung adenocarcinoma of the palate mucosa through genetic and histopathological analysis: a rare case report and literature review
Published 2019-01-01“…Furthermore, an additional examination demonstrated an oncogenic KRAS mutation at codon 12 (p.G12D) in both palate tumor and in pleural effusion. …”
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3875
Phylogenomics and plastome evolution of Indigofera (Fabaceae)
Published 2023-06-01“…The species pairwise Ka/Ks ratios showed values lower than 1, and 13 genes with significant posterior probabilities for codon sites were identified in the positive selection analysis using the branch-site model, eight of which were associated with photosynthesis. …”
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3876
Molecular Characteristics and Promoter Analysis of Porcine <i>COL1A1</i>
Published 2022-10-01“…In the luciferase assay, the upstream 294 bp region of the initiation codon of <i>COL1A1</i> showed the highest activity, confirming that this section is the core region of the porcine <i>COL1A1</i> promoter. …”
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3877
Comparative Mitogenome Analyses Uncover Mitogenome Features and Phylogenetic Implications of the Parrotfishes (Perciformes: Scaridae)
Published 2023-03-01“…The PCGs showed similar codon usage, and all of them underwent a strong purifying selection. …”
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3878
In Vitro Activity of Cefiderocol on Multiresistant Bacterial Strains and Genomic Analysis of Two Cefiderocol Resistant Strains
Published 2023-04-01“…Furthermore, for the first time, to the best of our knowledge, we described two <i>Klebsiella pneumoniae</i> isolates that synthesize a truncated fecA protein due to the transition from G to A, leading to a premature stop codon in the amino acid position 569, and a TonB protein carrying a 4-amino acid insertion (PKPK) after Lysine 103. …”
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3879
Multidrug-Resistant <i>Helicobacter pylori</i> Strains: A Five-Year Surveillance Study and Its Genome Characteristics
Published 2022-10-01“…Resistance to both clarithromycin and metronidazole were most frequently observed in isolates with dual resistance (56.5%; 13/23). Codon substitutions in penicillin-binding protein 1A (V346L, V374L, G595_V596InsG, Y604H, and N608S) were detected in amoxicillin-resistance <i>H. pylori</i> strains. …”
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3880
Systemic γ-sarcoglycan AAV gene transfer results in dose-dependent correction of muscle deficits in the LGMD 2C/R5 mouse model
Published 2023-03-01“…We designed a self-complementary rAAVrh74 vector containing a codon-optimized human SGCG transgene driven by the muscle-specific MHCK7 promoter (SRP-9005) to investigate adeno-associated virus (AAV)-mediated SGCG gene transfer in SGCG−/− mice as proof of principle for LGMD 2C/R5. …”
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