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4061
Phylogenetic analysis of SARS-CoV-2 viruses circulating in the South American region: Genetic relations and vaccine strain match
Published 2022-04-01“…Significant differences in codon usage among spike genes of SARS-CoV-2 strains circulating in South America was found, which can be linked to SARS-CoV-2 genotypes.…”
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4062
Rapid detection of multidrug resistance in tuberculosis using nanopore-based targeted next-generation sequencing: a multicenter, double-blind study
Published 2024-03-01“…The most common mutations were S531L (codon in E. coli) in the rpoB gene, S315T in the katG gene, and M306V in the embB gene, conferring resistance to rifampicin, isoniazid, and ethambutol, respectively. …”
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4063
Antiviral activity of mink interferon alpha expressed in the yeast Pichia pastoris
Published 2022-09-01“…Herein, the gene encoding a mature mink interferon alpha (MiIFN-α) was synthesized according to the P. pastoris preference of codon usage and a recombinant plasmid, pPICZαA-MiIFN-α, was constructed. pPICZαA-MiIFN-α was linearized and transformed into the P. pastoris X33 strain, and zeocin-resistant transformants were selected. …”
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4064
Two Novel Variants in <i>YARS2</i> Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency
Published 2021-08-01“…(Gly105Alafs*4)), which creates a premature stop codon in the amino acid 109, and a single nucleotide change in exon 5 c.1391T>C (p.…”
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4065
Molecular genetic characteristics of the carbapenem resistant <i>Klebsiella pneumoniae KP254</i> strain as a representative of the highly virulent strain evolutionary branch
Published 2021-06-01“…The analysis of the ompK35 and ompK36 porin gene translated sequences revealed mutational changes which resulted in emerged stop codon within the ompK35 gene, whereas OmpK36 amino acid sequence contains a large number of substitutions, insertions, and deletions. …”
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4066
KANKER PAYUDARA FAMILIAL: PENELUSURAN GENA PREDISPOSISI TERWARIS DAN PERHITUNGAN RISIKO
Published 2012“…Other mutation of p.Met1652Ile and p.Ile3412Val were considered as candidate gene and were identified mostly at BRCA2 exon 11 and 27. SNPs p53 codon 72 were found with the genotype GC 56%, CG 20%, CC 95% and the polymorphism of the gen MDM2 the SNPs with the genotype TG 64% and TT 36%. …”
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4067
Emergence of the Asian lineage dengue virus type 3 genotype III in Malaysia
Published 2018“…Amino acid variation sites in NS5 (NS5-553I/M, NS5-629 T, and NS5-820E) differentiated the DENV3/III-C from other DENV3 viruses. The codon 629 of NS5 was identified as a positively selected site. …”
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4068
Catalytic Properties of Caseinolytic Protease Subunit of Plasmodium knowlesi and Its Inhibition by a Member of δ-Lactone, Hyptolide
Published 2022“…This study aims to characterize the catalytic properties of ClpP of Plasmodium knowlesi (Pk-ClpP) and the inhibition properties of a δ-lactone hyptolide against this protein. Accordingly, a codon-optimized synthetic gene encoding Pk-ClpP was expressed in Escherichia coli BL21(DE3) and purified under a single step of Ni2+-affinity chromatography, yielding a 2.20 mg from 1 L culture. …”
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4069
Case series of homozygous and compound heterozygosity of Hb Malay, the diagnostic features and transfusion requirements
Published 2017“…This Hb variant is caused by AAC à AGC mutation at codon 19 of the b globin gene resulting in the substitution of serine for asparagine [1]. …”
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4070
Isolation, Screening and Molecular Cloning Studies of Xylanase Producing Bacillus Pumilus Strains
Published 1997“…The structural xylanase gene which started from an ATG initiation codon, consists of an open reading frame of 684 bp, which encoded 202 amino acid residues. …”
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Thesis -
4071
Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational a...
Published 2023-07-01“…The maternal c.971delA (p.N324Tfs*29) deletion variant disturbs the transcript reading frame leading to the generation of a premature stop codon and its subsequent degradation by nonsense-mediated mRNA decay as detected through expression analysis. …”
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4072
Employing an immunoinformatics approach revealed potent multi-epitope based subunit vaccine for lymphocytic choriomeningitis virus
Published 2023-02-01“…Methods: The whole proteome of the virus was screened and mapped to extract immunodominant B-cell and T-cell epitopes which were fused with appropriate linkers (EAAAK, GGGS, AAY, GPGPG, and AAY), PADRE sequence (13aa) and an adjuvant (50 S ribosomal protein L7/L12) to formulate a multi-epitope vaccine ensemble. Codon adaptation and in silico cloning of the constructed vaccine were carried out using bioinformatics tools. …”
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4073
PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation
Published 2022-10-01“…(Glu525AspfsTer68)) variants are predicted to result in a premature termination codon that leads to truncated and functionally disrupted protein causing the phenotype of MCAHS1 in the affected individuals. …”
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4074
Clinical and Molecular Characteristics of Patients with PLN R14del Cardiomyopathy: State-of-the-Art Review
Published 2022-03-01“…The deletion of the arginine 14 codon (R14del) in the phospholamban (<i>PLN</i>) gene is a rare cause of arrhythmogenic cardiomyopathy (ACM) and is associated with prevalent ventricular arrhythmias, heart failure, and sudden cardiac death. …”
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4075
Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome
Published 2017-04-01“…Molecular genetic studies revealed the presence of the KIT V560G mutation in bone marrow MCs, but not in other bone marrow cells, whereas the screening for mutations in codon 816 of KIT was negative. The patient was treated with oral disodium cromoglycate and the disease had a favorable outcome after an eleven-year follow-up period, during which progressively lower serum tryptase levels together with the fully disappearance of all clinical manifestations was observed. …”
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4076
Molecular bioinformatic and functional analysis of Enolase4 gene during siphonal autotomy and regeneration of razor clam Solen grandis
Published 2023-08-01“…Bioinformatic analysis revealed a slightly lower codon usage bias and a relatively stable nucleotide composition in the SgENO4 sequence. …”
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4077
Identification of Alternative Splicing Events Associated with Paratuberculosis in Dairy Cattle Using Multi-Tissue RNA Sequencing Data
Published 2022-03-01“…The DAS in <i>EXOC7</i> might produce a new protein sequence with lack of 23 amino acids, and the DAS in <i>KIF2C</i> induced a stop codon of premature occurrence and resulted in a lack of functional domain. …”
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4078
Crystal Structure of an Archaeal Tyrosyl-tRNA Synthetase Bound to Photocaged L-Tyrosine and Its Potential Application to Time-Resolved X-ray Crystallography
Published 2022-09-01“…ΔA strain with the UAG codon reassigned to the nonnatural amino acid. Another crystallographic study of the caged protein showed that the site-specifically incorporated <i>o</i>NBTyr was degraded to tyrosine by light irradiation of the crystals. …”
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4079
Branchpoints as potential targets of exon-skipping therapies for genetic disorders
Published 2023-09-01“…Fukutin (FKTN) c.647+2084G>T creates a pseudo-exon with a premature stop codon, which causes Fukuyama congenital muscular dystrophy (FCMD). …”
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4080
Molecular Pathological Characteristics of Thyroid Follicular-Patterned Tumors Showing Nodule-in-Nodule Appearance with Poorly Differentiated Component
Published 2022-07-01“…We analyzed the profile of 53BP1 expression and <i>NRAS codon 61</i> and <i>TERT</i>-promoter (<i>TERT</i>-p) mutations in 16 cases of TFTs showing NN with PDc compared to 30 adenomatous goiters, 31 follicular adenomas, 15 minimally invasive follicular carcinomas (FCs), and 11 widely invasive FC cases. …”
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