“…Whole-exome sequencing and Sanger sequencing revealed c.1960C > T, a novel de novo nonsense mutation, leading to the termination of protein translation (p. …”
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“…A recent report reveals widespread mis-splicing of RNA transcripts in eukaryotes, with mis-spliced RNA destroyed by nonsense-mediated mRNA decay. This striking inefficiency deepens the mystery of the proliferation and persistence of introns.…”
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“…Discrimination of speech was tested with nonsense words using the phoneme discrimination test (PDT), while pure tones—with the frequency pattern test (FPT). …”
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“…A diversity of translational and splicing PTEN isoforms exist, as well as PTEN C-terminal truncated variants generated by disease-associated nonsense mutations. However, most of the available anti-PTEN monoclonal antibodies (mAb) recognize epitopes at the PTEN C-terminal tail, which may introduce a bias in the analysis of the expression of PTEN isoforms and variants. …”
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“…We identified nine nonsynonymous mutations and one nonsense mutation putatively involved in EPS biosynthesis. …”
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“…Nonsense-mediated mRNA decay (NMD) represents a eukaryotic quality control pathway that recognizes and rapidly degrades transcripts harbouring nonsense mutations to limit accumulation of non-functional and potentially toxic truncated polypeptides. …”
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“…We suggest these two proteins are involved in facilitating splice site recognition/interaction; in their absence some splice site mutations are tolerated. Nonsense mutations in SMG1, which is involved in nonsense-mediated decay, lead to accumulation of aberrant transcripts and partial restoration of flagellar assembly in the ift mutants. …”
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“…Until very recently the genetic code expansion technology suffered from a low yield of targeted proteins due to both incompatibilities of orthogonal pair with host cell translational machinery and the competition of suppressor tRNA with release factor (RF) for binding to nonsense codons. Here we describe the latest progress made to enhance nonsense suppression in E. coli with the emphasis on the improved expression vectors encoding for an orthogonal aa-RA/tRNA pair, enhancement of aa-RS and suppressor tRNA efficiency, the evolution of orthogonal EF-Tu and attempts to reduce the effect of RF1.…”
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“…The second patient’s disorder was caused by a homozygous nonsense c.1528C>T (p.(Arg510Ter)) mutation due to maternal uniparental disomy (UPD) of chromosome 2. …”
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“…Interestingly, we detect no suppression of NMD (nonsense-mediated mRNA decay) by targeted PTC pseudouridylation in the yeast system. …”
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“…Crosses with the stronger nonsense allele ali1-2 identified complex allele interactions for plant height and aberrant SMC division. …”
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“…Successful rescue of PLAU mRNA levels by nonsense-mediated mRNA decay (NMD) inhibitor (puromycin) confirmed NMD as the underlying mechanism. …”
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“…Five (62.5%, 5/8) of the mutations were nonsense, two of the mutations were missense (25%, 2/8), and one of the mutations was frameshift (12.5%, 1/8). …”
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“…To the best of our knowledge, an HS pedigree with this novel ANK1 nonsense mutation has not been previously reported. …”
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“…This no-nonsense book quickly gets you up to speed on the new Spring open source framework. …”
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“…Packed with best practices and examples of JavaScript use, Learning JavaScript provides complete, no-nonsense coverage of this quirky yet essential language for web development. …”
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“…Novel USH2A mutations included three nonsense, two missense, two frameshift, and one intragenic deletion. …”
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“…Based on our results, about 12% of DMD/BMD patients with nonsense mutations may benefit from stop codon read-through therapy. …”
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“…As a result, patients with mutations commonly found in pancreatic cancer (KRAS G12D mutations and/or TP53 nonsense and splice site mutations) showed significantly worse survival. …”
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“…Cells and tissues have a remarkable ability to adapt to genetic perturbations via a variety of molecular mechanisms. Nonsense-induced transcriptional compensation, a form of transcriptional adaptation, has recently emerged as one such mechanism, in which nonsense mutations in a gene can trigger upregulation of related genes, possibly conferring robustness at cellular and organismal levels. …”
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