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4161
Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system
Published 2022-12-01“…Methods: MPS I mice were hydrodynamically injected through the tail vein with plasmids containing either a codon-optimized cDNA encoding the wild-type IDUA protein or one of four modified IDUAs under the control of the liver-specific human α1-antitrypsin (hAAT) promoter. …”
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4162
Polymorphism of Drug Resistance Genes <i>dhfr</i> and <i>dhps</i> in <i>Plasmodium falciparum</i> Isolates among Chinese Migrant Workers Who Returned from Ghana in 2013
Published 2023-11-01“…All 146 isolates had mutations in at least one codon, either within <i>dhfr</i> or <i>dhps</i>. …”
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4163
A novel homozygous variant of TMEM260 induced cardiac malformation and neurodevelopmental abnormality: case report and literature review
Published 2023-05-01“…This mutation led to the deletion of a TCTC sequence from positions 1336 to 1339 in the TMEM260 gene, changing leucine to valine at amino acid 447 and introducing a stop codon after the ninth amino acid. This structural deletion in the TMEM260 protein resulted in the loss of gene function.ConclusionThis case report presents a newly discovered variant site in the TMEM260 gene and reinforces the relationship between TMEM260 molecular function and differentiation of mesoderm and ectoderm. …”
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4164
Identification of tRNA-derived small RNAs and their potential roles in porcine skeletal muscle with intrauterine growth restriction
Published 2022-10-01“…The tsRNAs formed by splicing before the 5′ end anti codon of mature tRNA (tRF-5c) accounted for over 90% of tsRNAs, which were significantly enriched in IUGR pigs than in normal-size pigs. …”
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4165
The complete mitochondrial genome of the Indian leafwing butterfly Kallima paralekta (insecta: Lepidoptera: Nymphalidae)
Published 2021-01-01“…Kallima paralekta COX1 features an atypical CGA start codon, while ATP6, COX1, COX2, ND4, ND4L, and ND5 exhibit incomplete stop codons completed by 3’ A residues added to the mRNA. …”
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4166
Genetic Diversity of Carbapenem-Resistant Enterobacteriaceae (CRE) Clinical Isolates From a Tertiary Hospital in Eastern China
Published 2019-01-01“…Several insertions or stop codon mutations were found within porin genes of K. pneumoniae, E. coli and S. marcescens isolates, both with and without carbapenemases. …”
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4167
Multidimensional features of sporadic Creutzfeldt-Jakob disease in the elderly: a case report and systematic review
Published 2024-04-01“…The polymorphic PRNP analysis at codon 129 was M/M (90.9%), with MM1 and MM2C as the primary molecular phenotypes. …”
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4168
Prevalence of Carbendazin Resistance in Field Populations of the Rice False Smut Pathogen <i>Ustilaginoidea virens</i> from Jiangsu, China, Molecular Mechanisms, and Fitness Stabil...
Published 2022-12-01“…Variations including point mutations, non-sense mutations, codon mutations, and frameshift mutations were found in the <i>Uvβ1Tub</i> gene from the 14 carbendazim-resistant isolates, which have not been reported in other fungi before. …”
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4169
First description of antimicrobial resistance in carbapenem-susceptible Klebsiella pneumoniae after imipenem treatment, driven by outer membrane remodeling
Published 2020-07-01“…Sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) results showed that isolate FK-2820 lacked OmpK36, with genome sequence data validating that there was a premature stop codon in the ompK36 gene and real-time RT-PCR suggesting high turnover of the ompK36 non-sense transcript in FK-2820, with the steady-state mRNA level 0.007 relative to the initial isolate. …”
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4170
KRAS mutations and endometriosis burden of disease
Published 2023-07-01“…Somatic activating KRAS codon 12 mutations were detected in endometriosis lesions using droplet digital PCR. …”
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4171
Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms
Published 2023-05-01“…The identified splice variant (c.97-1G>C) was predicted to result in the skipping of exon-2, which would lead to a frameshift followed by a premature stop codon (p. His86Profs*16). Furthermore, it could result in the termination of translation and synthesis of dysfunctional protein, most likely leading to nonsense-mediated decay. …”
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4172
A novel germline mutation of the <i>PALB2</i> gene in a young Yakut breast cancer woman
Published 2022-09-01“…In accordance with dbPubMed ClinVar, new mutation is located in codon of the PALB2 gene, where the likely pathogenic donor splice site mutation (NM_024675.3:c.48+1delG) associated with hereditary cancer-predisposing syndrome has been earlier described. …”
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4173
First Description of the Mitogenome and Phylogeny of Culicinae Species from the Amazon Region
Published 2021-12-01“…The most common start codons were ATT/ATG, and TAA was the stop codon for all PCGs. …”
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4174
Immunoinformatics for Novel Multi-Epitope Vaccine Development in Canine Parvovirus Infections
Published 2023-08-01“…The selected epitopes were linked with <i>Salmonella enterica</i> flagellin FliC adjuvants, along with the PADRE sequence, by GGS linkers to construct a vaccine candidate with 272 nucleotides. The codon adaptation and in silico cloning showed that the generated vaccine can be expressed by the <i>E. coli</i> strain, K12, and the sequence of the vaccine construct showed no similarities with dog protein. …”
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4175
One-Enzyme RTX-PCR for the Detection of RNA Viruses from Multiple Virus Genera and Crop Plants
Published 2022-01-01“…The expression plasmid pET_RTX_(exo-) was transferred to various <i>E. coli</i> genotypes that either compensated for codon bias (Rosetta-gami 2) or contained additional chaperones to promote solubility (BL21 (DE3) with plasmids pKJE8 or pTf2). …”
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4176
Computational design and characterization of a multiepitope vaccine against carbapenemase-producing Klebsiella pneumoniae strains, derived from antigens identified through reverse...
Published 2022-01-01“…Molecular docking binding energies to TLR-2 and TLR-4, two important innate immunity receptors involved in the immune response against K. pneumoniae infections, and molecular dynamics simulations of such complexes supported active interactions. A codon optimized multiepitope sequence cloning strategy is proposed, for production of recombinant vaccine in classical bacterial vectors. …”
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4177
Evolutionary analyses of polymeric immunoglobulin receptor (pIgR) in the mammals reveals an outstanding mutation rate in the lagomorphs
Published 2022-11-01“…The obtained mammalian phylogeny, as well as the Bayesian inference of evolutionary rates and genetic distances, show that Lagomorpha pIgR is evolving at a higher substitution rate. Codon-based analyses of positive selection show that mammalian pIgR is evolving under strong positive selection, with strong incidence in the domains excised from the rabbit short pIgR isoform. …”
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4178
Mus musculus papillomavirus 1 E8^E2 represses expression of late protein E4 in basal-like keratinocytes via NCoR/SMRT-HDAC3 co-repressor complexes to enable wart formation in vivo
Published 2023-08-01“…While inactivation of the Mus musculus PV1 (MmuPV1) E8 start codon (E8-) increases viral gene expression, surprisingly, it prevents wart formation in FoxN1nu/nu mice. …”
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4179
Phenotypic and Genotypic Appraisal of Pulmonary Mucinous Adenocarcinoma: A Retrospective Study
Published 2023-07-01“…EGFR mutation analysis for exons 18, 19, 20, 21 were done using ARMS PCR and KRAS mutation analysis for codons 12, 13, 61, 146 by Sanger sequencer. Descriptive statistics was used wherever applicable. …”
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4180
MPZL2—a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population
Published 2024-01-01“…A novel MPZL2 variant at the start codon was identified, enriching the variant spectrum of MPZL2. …”
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