“…Sanger sequencing confirmed a heterozygous mutation in this patient that was absent in both her parents, so it was judged to be a de novo nonsense mutation.…”
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“…Third graders viewed photographs belonging to one of three semantic categories while hearing four-word nonsense utterances containing a target word. In the control condition, all words had the same pitch and, across trials, the position of the target word was varied systematically within each utterance. …”
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“…[PSI(+)] leads to increased nonsense suppression and confers phenotypic plasticity in response to environmental fluctuations. …”
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“…Nonsense‐mediated mRNA decay (NMD) is a cellular surveillance pathway that recognizes and degrades mRNAs with premature termination codons (PTCs). …”
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“…Analyzing mRNA half-life data of 34 knockout strains showed that the effect of codon usage not only requires functional decapping and deadenylation, but also the 5′-to-3′ exonuclease Xrn1, the nonsense-mediated decay genes, but not no-go decay. …”
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“…To bridge this gap, three experiments were conducted in which associations between nonsense words and pictures of animals or emotional body postures were tested. …”
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“…As a therapeutic strategy, we have designed and tested splicing-modulating steric hindrance antisense oligonucleotides (shAONs) that efficiently induce exon skipping (half maximal inhibitory concentration [IC(50)] at 3.5–7 nM), disrupt the open reading frame (ORF) of GLDC transcript (predisposing it for nonsense-mediated decay), halt cell proliferation, and prevent colony formation in both A549 cells and TIC-enriched NSCLC tumor sphere cells (TS32). …”
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“…Compared were 516 Chinese Han women diagnosed mainly with infiltrative ductal carcinoma and 520 age-matched healthy controls. The nonsense SNP rs5744168 causes truncation of the TLR5 transmembrane signaling domain and was associated with breast cancer risk (p<0.05). …”
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“…Two samples showed a C(5174)A nonsense mutation whereby the “C” nucleotide was substituted with an “A” nucleotide at position 5174, resulting in the conversion of serine amino acid at codon 1725 to a premature STOP codon. …”
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“…In the first part of the review, we briefly assess the traditional roles of the plant nucleolus in rRNA synthesis and ribosome biogenesis as well as possible functions in other RNA regulatory pathways such as splicing, nonsense-mediated mRNA decay and RNA silencing. In the second part of the review we summarize recent progress and discuss already known and new hypothetical roles of the nucleolus in plant growth and development. …”
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“…Novel interventions are developing at a rapid pace and are explored in this review including genetic therapeutics such as gene therapy, exon skipping therapy, nonsense suppression therapy, and gene editing. Other non-genetic therapies such as gene repurposing, targeted therapies, and non-pharmacological interventions are also discussed.…”
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“…A missense mutation (c.G6953A:p.C2318Y) and a nonsense mutation (c.C4786T:p.R1596X) were identified in the fibrillin 1 gene in patients T287 and T267, respectively. …”
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“…We identified 187 somatic mutations in 12 patients (65 synonymous, 102 missense, 2 nonsense, 5 splice site, and 13 small coding insertions/deletions). …”
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“…Furthermore, 5 of the 12 mutations were nonsense mutations. Regarding the K–ras gene, 4 of the 17 (23.5%) cases had mutations in codon 12, 3 of the 4 cases being derived from the intraduodenal bile duct. …”
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“…The novel findings included a missense mutation (G→T) at nucleotide 1004 in exon 8 resulting in an arginine‐to‐leucine change at codon 335 (R335L), two novel splice‐site mutations (209+1delGT and 209+1delGTAA) in intron 3, and insertion of G at nucleotide 632 in exon 6 (632insG). We also detected a nonsense mutation (C→T) at nucleotide 697 producing R233X in exon 7, which has been reported previously. …”
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“…The performance was evaluated by measuring consonant recognition and consonant confusions in normal-hearing and hearing-impaired listeners using consonant-vowel nonsense syllables presented in background noise. Envelope expansion of the noisy speech showed no significant effect on the overall consonant recognition performance relative to linear processing. …”
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“…Analysis of AVPR2 identified two nonsense mutations (c.299_300insA; p.K100KfsX91 and c.296G > A; p.W99X) and one missense mutation (c.316C > T; p.R106C). …”
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“…At 14 years old, he remains aphonic with normal facial and extraocular movements. Nonsense mutations in the LINS gene, p.Glu366X and p.Lys393X, were found. …”
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“…CASE PRESENTATION: Here we present the first Chinese Han patient with a de novo nonsense variant (c.1357C > T, p.Gln453*) in PUF60 by clinical whole exome sequencing. …”
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“…Ligand-independent activation of the AR, an AR axis-dependent mechanism, is mediated by truncated forms of ARs that lack the ligand-binding domain (LBD), arising as products of AR splicing variants or nonsense mutations of AR. Post-translational modifications of ARs can also contribute to ligand-independent transactivation of the AR. …”
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