“…ABSTRACT IMPACT: Small molecule readthrough compounds are a promising therapeutic with the potential to overcome nonsense mutations thereby enabling the production of functional ATM protein in patients with Ataxia Telangiectasia OBJECTIVES/GOALS: To generate a novel mouse model of Ataxia-Telangiectasia for testing small molecule readthrough compounds that both expresses a clinically relevant nonsense mutation and recapitulates the major symptoms of the disease, including a progressive loss of motor coordination not previously observed in prior A-T animal models. …”
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“…In each of these tasks, the level of predictability of the three-syllable nonsense words embedded in the speech streams was also manipulated (high vs. low) to mimic natural languages closely. …”
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“…In a second family, a homozygous LDB3 nonsense variant was identified in a young girl with severe early-onset dilated cardiomyopathy with left ventricular non-compaction; the same homozygous nonsense variant was identified in a third unrelated female infant with dilated cardiomyopathy. …”
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“…Multiple genes including RB1 nonsense mutations, BRINP3, MYH6, ST18, and PCHD15 were with frequent mutation in residual tumors, which might participate chemo‐resistance and influenced the prognosis in patients with limited disease SCLC.…”
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“…•All concepts are illustrated with working, downloadable code examples•Works as a standalone volume or as a companion to Programming Arduino: Getting Started with Sketches•Written in the clear, no-nonsense style that Dr. Simon Monk is famous for…”
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“…Chain termination and nonsense codons. Mistakes in translation: ambiguity in vitro. …”
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“…Mutagenesis of a potential ribosomal frameshift signal located at codons 428-430 without changing the amino acid sequence of the tau product, eliminated detectable synthesis of the gamma subunit, suggesting that the reading frame is shifted at that sequence and gamma is terminated by a nonsense codon located in the -1 frame 3 nucleotides downstream of the signal. …”
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“…AS also regulates transcript levels and the link with nonsense-mediated decay and generation of unproductive mRNAs illustrate the need for both transcriptional and AS data in gene expression analyses. …”
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“…The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene.…”
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“…Here we report a mild form of CS patient who was homozygous for the C526T transition resulting in a new nonsense mutation, which converts Arg176 to a stop codon.…”
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“…The results indicate that noun and verb tokens of ambiguous words produce differences in the amplitude of the ERP response over left anterior sites as early as 100 ms following stimulus onset and persisting for over 400 ms. Nonsense words extracted from noun and verb contexts do not show such differences. …”
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“…Post-transcriptional control determines the fate of cellular RNA molecules. Nonsense-mediated decay (NMD) provides quality control of mRNA, targeting faulty cellular transcripts for degradation by multiple nucleases including the RNA exosome. …”
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“…[Image: see text] By using a directed evolution approach, we have identified aminoacyl-tRNA synthetase variants with significantly enhanced activity for the incorporation of unnatural amino acids into proteins in response to the amber nonsense codon in bacteria. We demonstrated that the optimization of anticodon recognition of tRNA by aminoacyl-tRNA synthetase led to improved incorporation efficiency that is unnatural amino acid-specific. …”
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“…These two tandem oligonucleotides avoid the risk of forming nonsense mutations and render flexibility of truncating or expanding the insertion size. …”
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“…The EJC core protein, Y14, functions with its partners in nonsense-mediated mRNA decay and translational enhancement. …”
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“…Ichthyosis prematurity syndrome (IPS) is reported mainly from Scandinavia where most of the cases are homozygous or compound heterozygous for the nonsense mutation c.504C>A (p.Cys168*) in exon3 indicating a common ancestor for this mutation. …”
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“…A genetic duplication within PAX6, which caused a frameshift mutation, ultimately created a nonsense stop codon and premature truncation of the protein. …”
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“…We detected one new nonsense mutation, one new missense-mutation and three novel small deletions. …”
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“…Specifically, we genetically encoded a thioester-activated aspartic acid (ThioD) in bacteria in good yield and with high fidelity using an orthogonal nonsense suppressor tRNA/aminoacyl-tRNA synthetase (aaRS) pair. …”
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“…These effects were replicated and extended in Experiment 2, as distinctive voices were recognised better even under challenging listening conditions imposed by nonsense sentences and temporal reversal. Taken together, the results aligned well with similar results when processing faces, and provided a useful point of comparison between voice and face processing.…”
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