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2041
Pharmacological induction of translational readthrough of nonsense mutations in the retinoblastoma (RB1) gene.
Published 2023-01-01“…A significant fraction (25.9%) of somatic RB1 mutations are nonsense substitutions leading to a premature termination codon (PTC) in the RB1 coding sequence and expression of truncated inactive Rb protein. …”
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2042
The complete mitochondrial genome of Metidiocerus sp. (Hemiptera: Cicadellidae: Idiocerinae)
Published 2020-07-01“…All 13 PCGs were initiated by the ATN (ATG, ATT, ATA, and ATC) codon. All PCGs terminate with the stop codons TAA except for COX2, ND4, and ND1 ended with single T. …”
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2043
The complete mitochondrial genome of Trematomus loennbergii (Perciformes, Nototheniidae)
Published 2021-03-01“…There were 4 types of stop codons which were TAA, TAG, AGG and T(AA) but start codon type was only one (ATG). …”
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2044
The cytidine deaminase under-representation reporter (CDUR) as a tool to study evolution of sequences under deaminase mutational pressure
Published 2018-05-01“…Conclusion Using various shuffling mechanisms to generate different null model distributions, we can tailor CDUR to correct for metrics such as GC-content, dinucleotide frequency, and codon bias.…”
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2045
Characterization of the complete mitochondrial genome of the Yunnan endemic grasshopper Longchuanacris curvifurculus (Insecta: Orthoptera: Catantopidae)
Published 2018-07-01“…All the protein-coding genes (PCGs) are initiated with typical ATN start codons and terminated by the typical TAA codons or the incomplete T(aa) codon. …”
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2046
A novel nonsense NBEAL2 gene mutation causing severe bleeding in a patient with gray platelet syndrome
Published 2018-04-01“…In comparison with the reported patients, we conclude that homozygotes with nonsense or deletion mutation leading to a premature stop codon exhibit more serious bleeding problem than those with missense mutations.…”
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2047
T cell receptor convergence is an indicator of antigen-specific T cell response in cancer immunotherapies
Published 2022-11-01“…T cell receptor (TCR) convergence describes T cells that share identical TCRs with the same amino acid sequences but have different DNA sequences due to codon degeneracy. We conducted a systematic investigation of TCR convergence using single-cell immune profiling and bulk TCRβ-sequence (TCR-seq) data obtained from both mouse and human samples and uncovered a strong link between antigen-specificity and convergence. …”
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2048
The mitogenome of common snipe, Gallinago gallinago gallinago Linnaeus, 1758 and evolutionary implications for the family Scolopacidae
Published 2021-10-01“…Among 13 PCGs, an unusual start codon (GTG) was identified for the COX1 gene, and incomplete stop codons (T-) were found in the COX3, ND2 and ND4 genes. …”
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2049
Delayed Cardiac Metastasis from Renal Cell Carcinoma Caused by VHL Mutation
Published 2023-02-01Get full text
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2050
Complete mitochondrial genome of Ostrinia kasmirica (Lepidoptera: Crambidae)
Published 2021-08-01“…All protein-coding genes (PCGs) initiate with ATN and terminate with TAN, except cox1 starts with CGA and cox1, cox2, nad5 terminate with an incomplete codon T. The control region of 308 bp contains three conserved features including the motif ‘TTAGA’ preceded a poly-T stretch, a microsatellite-like (TA)n element, and a poly-A stretch upstream of trnM. …”
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2051
Complete mitochondrial genome sequence of <it>Urechis caupo</it>, a representative of the phylum Echiura
Published 2004-09-01“…</p> <p>Conclusions</p> <p><it>Urechis caupo </it>mtDNA shares many features with those of the few studied annelids, including the common usage of ATG start codons, unusual among animal mtDNAs, as well as gene arrangements, tRNA structures, and codon usage biases.…”
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2052
Casting CRISPR-Cas13d to fish for microprotein functions in animal development
Published 2022-12-01“…Summary: Protein coding genes were originally identified with sequence-based definitions that included a 100-codon cutoff to avoid annotating irrelevant open reading frames. …”
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2053
Analysis of a Spontaneous Non-Motile and Avirulent Mutant Shows That FliM Is Required for Full Endoflagella Assembly in Leptospira interrogans.
Published 2016-01-01“…Whole genome sequencing allowed the identification of one nucleotide deletion in the fliM gene resulting in a premature stop codon, thereby preventing the production of flagellar motor switch protein FliM. …”
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2054
Paraquat-associated Severe Acute Kidney Injury—Study from India
Published 2022-12-01Get full text
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2055
Complete mitochondrial genome of the Salangid icefish Neosalanx taihuensis (Actinopterygii: Osmeriformes: Salangidae)
Published 2018-07-01“…The gene arrangement, nucleotide composition, and codon usage pattern of the mitochondrial genome are similar to those of other teleosts except for two long tandem repeats in the CR. …”
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2056
The complete mitochondrial genome of Aglais ladakensis (Lepidoptera: Nymphalidae: Nymphalinae)
Published 2020-01-01“…In addition, seven PCGs harbor the typical stop codon TAA, whereas six PCGs terminate with TA or T. …”
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2057
Eighteen mitochondrial genomes of Syrphidae (Insecta: Diptera: Brachycera) with a phylogenetic analysis of Muscomorpha.
Published 2023-01-01“…Most protein-coding genes (PCGs) started with a standard ATN codon and ended with TAA/G. All transfer RNAs (tRNAs) could be folded into the cloverleaf secondary structure except tRNA-Ser (AGN), which lacks a dihydrouridine arm. …”
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2058
Congenital thrombocytopenia associated with a heterozygous variant in the MEIS1 gene encoding a transcription factor essential for megakaryopoiesis
Published 2022-05-01“…Whole exome sequencing revealed a de novo monoallelic splice site variant in MEIS1, NM_002398.3:exon4:c.432 + 5 G > C, leading to a premature stop codon. We propose that heterozygous mutations in MEIS1 may cause congenital thrombocytopenia.…”
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2059
The mitochondrial genome of a parasitic wasp, Chouioia cunea Yang (Hymenoptera: Chalcidoidea: Eulophidae) and phylogenetic analysis
Published 2021-03-01“…All the 13 PCGs started with typical ATN (ATA, ATG, and ATT) and terminated with the stop codon TAA or TAG. Phylogenetic analysis showed that C. cunea formed the sister group with Tamarixia radiata, which belongs to the same family.…”
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2060
The complete mitochondrial genome of Dysomma Anguillare (Anguilliformes, Synaphobranchidae) with phylogenetic consideration
Published 2019-01-01“…In 13 protein-coding genes, two types of initiation codon (GTG, ATG) and five types of stop codons (AGG,TAA,TAG,TA, and T) were identified. …”
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