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4881
Mapping of repeat-associated non-AUG (RAN) translation knowledge: A bibliometric analysis
Published 2024-04-01“…Beyond the standard AUG initiation or adjacent start codons, they are translated into proteins characterized by disease-causing amino acid repeats through repeat-associated non-AUG translation. …”
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4882
Genomic Perspectives on the Emerging SARS-CoV-2 Omicron Variant
Published 2022-02-01“…Moreover, a large number of nonsynonymous mutations occur in the codons for the amino acid residues located on the surface of the Spike protein, which could potentially affect the replication, infectivity, and antigenicity of SARS-CoV-2. …”
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4883
A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics
Published 2023-12-01“…Conclusion SPAST mutations leading to premature stop codons do not always act through haploinsufficiency. …”
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4884
Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy
Published 2024-03-01“…Construction of wild-type and mutant TSPAN12 vector showed the appearance of premature termination codons (PTC). In vitro expression detection showed significant down-regulated expression level of TSPAN12 mRNAs and proteins in cells transfected with mutant vectors compared with in wild-type group. …”
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4885
Unusual phylogenetic tree and circulating actionable ESR1 mutations in an aggressive luminal/HER2-low breast cancer: Case report
Published 2023-01-01“…Convergent evolution was characterized by a unique asynchronous expansion of three actionable (OncoKB level 3A) mutations at two consecutive ESR1 codons. Low or undetectable in all the sampled tumor tissues, ESR1 mutations expanded rapidly in blood during HER2/hormone double-blockade, and predicted life-threatening local progression at lung and liver metastatic foci. …”
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4886
Role of Envelope Glycoprotein Complexes in Cell-Associated Spread of Human Cytomegalovirus
Published 2021-04-01“…In the genome of Merlin pAL1502, the glycoproteins gB, gH, gL, gM, and gN were deleted by introducing stop codons, and the mutants were analyzed for viral growth. …”
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4887
Recent findings on the role of wild-type and mutant p53 in cancer development and therapy
Published 2022-09-01“…Eight TP53 gene mutations are located in codons, constituting 28% of all p53 mutations. The p53 can be used as a biomarker for tumor progression and an excellent target for designing cancer treatment strategies. …”
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4888
Cardiomyocyte-Specific Loss of Glutamyl-prolyl-tRNA Synthetase Leads to Disturbed Protein Homeostasis and Dilated Cardiomyopathy
Published 2023-12-01“…Glutamyl-prolyl-tRNA synthetase (EPRS1), an aminoacyl-tRNA synthetase (ARS) ligating glutamic acid and proline to their corresponding tRNAs, plays an essential role in decoding proline codons during translation elongation. The physiological function of EPRS1 in cardiomyocytes (CMs) and the potential effects of the CM-specific loss of Eprs1 remain unknown. …”
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4889
Characterization of Two New <i>Apodemus</i> Mitogenomes (Rodentia: Muridae) and Mitochondrial Phylogeny of Muridae
Published 2022-12-01“…All protein-coding genes contained T- and TAA as stop codons. Phylogeny analysis revealed two main branches in the Muridae family. …”
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4890
sgRNA design and in vitro nucleolytic analysis of the Cas9‐RNP complex for transgene‐free genome editing of the eIF4E1 gene from Capsicum an‐ nuum L.
Published 2023-12-01“…Therefore, this study explores the potential of CRISPR‐Cas9‐based genome editing to enhance chili resistance by introducing premature stop codons or truncated proteins. Two sgRNAs were designed, targeting the first and second intron of the eIF4E1 gene. …”
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4891
Drosophila Embryonic Cell-Cycle Mutants
Published 2014“…Five new alleles of Cyclin E were recovered, ranging from a missense mutation that is viable to stop codons causing embryonic lethality. These permitted us to investigate the requirements for Cyclin E function in neuroblast cell fate determination, a role previously shown for a null Cyclin E allele. …”
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4892
Next generation sequencing reveals the antibiotic resistant variants in the genome of Pseudomonas aeruginosa
Published 2017“…In addition, nucleotide deletions in the genome and mutations leading to generation of stop codons were also observed in the antibiotic resistant clinical isolates. …”
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4893
The garden asparagus (Asparagus officinalis L.) mitochondrial genome revealed rich sequence variation throughout whole sequencing data
Published 2023-03-01“…It was found that the codons of edited sites located in the amino acids showed a leucine-formation trend, and RNA editing sites mainly caused the mutual transformation of amino acids with the same properties. …”
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4894
Anticancer properties and mechanism of action of the fungal nucleoside clitocine and its derivatives
Published 2024-04-01“…Moreover, CLT can promote translational readthrough of stop codons. This emerging mechanism reinforces further the interest of the natural product to address different types of cancers and nonsense mutation-related genetic disorders. …”
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4895
Mutations in genes involved in nonsense mediated decay ameliorate the phenotype of <it>sel-12 </it>mutants with amber stop mutations in <it>Caenorhabditis elegans</it>
Published 2009-03-01“…</p> <p>Results</p> <p>We show that <it>spr-2 </it>mutations increase the levels of <it>sel-12 </it>transcripts with Premature translation Termination Codons (PTCs) in embryos and L1 larvae. mRNA transcripts from <it>sel-12 </it>alleles with PTCs undergo degradation by a process known as Nonsense Mediated Decay (NMD). …”
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4896
Mitochondrial Genomes of the Genus <i>Claassenia</i> (Plecoptera: Perlidae) and Phylogenetic Assignment to Subfamily Perlinae
Published 2021-12-01“…In general, standard ATN start and TAN termination codons were evident in the PCGs. Although the dihydrouridine arm was absent in <i>trnSer</i>, the remaining 21 tRNAs displayed the characteristic cloverleaf secondary structure. …”
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4897
Identification of Novel Rare <i>ABCC1</i> Transporter Mutations in Tumor Biopsies of Cancer Patients
Published 2020-01-01“…Diverse <i>ABCC1</i> mutations were found, including nonsense mutations causing premature stop codons, and compared with the wild-type protein in terms of their protein structure. …”
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4898
Melatonin Levels in Children with Obesity Are Associated with Metabolic Risk and Inflammatory Parameters
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4899
Proteins à la carte: riboproteogenomic exploration of bacterial N-terminal proteoform expression
Published 2024-04-01“…This suggests that TIS selection is subject to regulatory control, adding yet another layer of complexity to our understanding of bacterial proteomes.IMPORTANCEWith the emerging theme of genes within genes comprising the existence of alternative open reading frames (ORFs) generated by translation initiation at in-frame start codons, mechanisms that control the relative utilization of annotated and alternative TIS need to be unraveled and our molecular understanding of resulting proteoforms broadened. …”
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4900
Atmosphere and room temperature plasma alters the m6A methylome profiles and regulates gene expression associated with color mutation in clownfish (Amphiprion ocellaris)
Published 2023-06-01“…These modification sites were mainly distributed around stop codons, and the number of corresponding genes exceeded 10,000. …”
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