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  1. 3941
    “…Nearly 70% of the samples with a TP53 missense mutation demonstrated p53 overexpression, whereas all samples with a TP53 nonsense mutation demonstrated loss of p53 protein expression. …”
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    Primary Sclerosing Cholangitis–Associated Cholangiocarcinoma Demonstrates High Intertumor and Intratumor Heterogeneity
  2. 3942
    “…The other two modules were significant for translational initiation, nonsense-mediated mRNA decay, inhibited cell death, and interestingly, eIF2 signaling, in which key regulators, MYC and MLXIPL, were highly activated. …”
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    Protein co-expression network-based profiles revealed from laser-microdissected cancerous cells of lung squamous-cell carcinomas
  3. 3943
    “…SMKP03 aac(6′)-Ib-cr that possessed a gene mutation that resulted in an R102W substitution, namely, aac(6′)-Ib-D179Y, made a greater contribution to amikacin resistance than did aac(6′)-Ib-cr. SMKP03 harbored a nonsense mutation in mutS, which encodes a DNA repair enzyme. …”
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    Emergence of the Novel Aminoglycoside Acetyltransferase Variant aac(6′)-Ib-D179Y and Acquisition of Colistin Heteroresistance in Carbapenem-Resistant Klebsiella pneumoniae Due to a Disrupting Mutation in the DNA Repair Enzyme MutS
  4. 3944
    “…Together, these results indicate that the nonsense mutation of RsMYB1 generated the truncated protein, RsMYB1(Short), that had the loss of ability to regulate anthocyanin biosynthesis. …”
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    Loss of the R2R3 MYB Transcription Factor RsMYB1 Shapes Anthocyanin Biosynthesis and Accumulation in Raphanus sativus
  5. 3945
    “…We analyzed the phenotypic changes caused by 84 variants, including 15 nonsense variants, and found that FdrA(D296Y) was the most significant variant leading to increased succinate production. …”
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    An Escherichia coli FdrA Variant Derived from Syntrophic Coculture with a Methanogen Increases Succinate Production Due to Changes in Allantoin Degradation
  6. 3946
    por Yanagimoto, Keita, Haramoto, Eiji
    Publicado 2021
    “…Sequencing of the plc gene of these representative isolates showed that nonsense mutation (p.W98*) causing alpha-toxin deficiency should be responsible for a loss of PLC enzymatic activity. …”
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    Isolation of Alpha-Toxin-Deficient Clostridium perfringens Type F from Sewage Influents and Effluents
  7. 3947
    “…A missense mutation in CFTR and a nonsense mutation in PHIP were detected in N1b PTMCs only, although in one case each. …”
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    Whole-Exome Sequencing in Papillary Microcarcinoma: Potential Early Biomarkers of Lateral Lymph Node Metastasis
  8. 3948
    “…Detailed genomic analysis revealed that altered nonribosomal peptide production profiles in specific isolates are due to missing core genes, nonsense mutation, or potentially altered gene regulation. …”
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    Genomic and Chemical Diversity of Bacillus subtilis Secondary Metabolites against Plant Pathogenic Fungi
  9. 3949
    “…In analysing the selected studies, we took into account the type of the control task employed (i.e. motor or non-motor) and the type of drawn stimulus (i.e. geometric, figurative, or nonsense). The results showed that a fronto-parietal network, particularly on the left side of the brain, was involved in drawing when compared with other motor activities. …”
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    The Neural Bases of Drawing. A Meta-analysis and a Systematic Literature Review of Neurofunctional Studies in Healthy Individuals
  10. 3950
    “…The presence of bla(CTX-M-15) (258 isolates), OmpK35 nonsense mutations (232) and OmpK36 alterations (316) was common among OXA-48 producers. …”
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    Increasing frequency of OXA-48-producing Enterobacterales worldwide and activity of ceftazidime/avibactam, meropenem/vaborbactam and comparators against these isolates
  11. 3951
    “…Results: Genetic testing identified the novel deletion (c.1425delC, p(Asp476Thrfs*4); NM_000,503.6), a nonsense variant (c.889C > T, p(Arg297*)), and two splicing variants in the EYA1 gene (c.1050+1G > T and c.1140+1G > A); it also identified one novel missense variant in the SIX1 gene (c.316G > A, p(Val106Met); NM_005,982.4). …”
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    Genetic and Phenotypic Variability in Chinese Patients With Branchio-Oto-Renal or Branchio-Oto Syndrome
  12. 3952
    “…The nonsense-mediated mRNA decay (NMD) pathway rapidly detects and degrades mRNA containing premature termination codons (PTCs). …”
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    Molecular Determinants and Specificity of mRNA with Alternatively-Spliced UPF1 Isoforms, Influenced by an Insertion in the ‘Regulatory Loop’
  13. 3953
    “…The mRNA expression of the ARID1A, TP53 and PDL1 genes was analysed by Quantitative real time-PCR (qRT-PCR). We identified a nonsense mutation (c.3219; C > T) in exon-9 among two GC patients (∼2.0%), which introduces a premature stop codon at protein position 1073. …”
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    Implication of ARID1A Undercurrents and PDL1, TP53 Overexpression in Advanced Gastric Cancer
  14. 3954
    “…RESULTS: 6 patients with compound heterozygous nonsense mutations in WFS1 had no detectable WFS1 protein expression; 3 patients with missense variants had 4%, 45% and 48% WFS1 protein expression. …”
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    WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome
  15. 3955
    “…Whole exome sequencing (WES) revealed a heterozygous nonsense mutation in exon 8 of the KAT6A gene (c.1312C>T, p.…”
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    Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review
  16. 3956
    “…The girl has pathogenic homozygous nonsense mutation in C1qC gene, Arg69Ter (c205>T). …”
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    Case Report: Early Onset Systemic Lupus Erythematosus Due to Hereditary C1q Deficiency Treated With Fresh Frozen Plasma
  17. 3957
    “…Genetic screening identified a heterozygote nonsense mutation in DSP (NM_004415.2: c.478 C > T; p.Arg160Ter). …”
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    A 45-year-old man with sudden cardiac death, cutaneous abnormalities and a rare desmoplakin mutation: a case report and literature review
  18. 3958
    “…Several acquired mutations might contribute to the pembrolizumab resistance, including CDKN2A frameshift and MITF nonsense mutations. CONCLUSIONS: Genomic profiling of peripheral blood samples can be applied to dynamically monitor disease progression. …”
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    Evaluation of Pembrolizumab Monotherapy Efficacy in Advanced Non-Small-Cell Lung Cancer by Serial Monitoring of Circulating Tumor DNA Using Next-Generation Sequencing
  19. 3959
    “…Here we show that TDP-43 depletion induces robust inclusion of a cryptic exon in UNC13A, resulting in nonsense-mediated decay and loss of UNC13A protein. …”
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    TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
  20. 3960
    “…While most of these genes lie within common SCNA regions, many of them exhibit allele-specific expression in copy neutral samples and these samples are enriched for mutations that are predicted to cause nonsense-mediated decay. Thus, both SCNA and non-SCNA mutations frequently alter gene expression in neuroblastoma. …”
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    Allele-specific expression reveals genes with recurrent cis-regulatory alterations in high-risk neuroblastoma
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