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  1. 2461
    “…Sequencing of PLA2G6 coding regions identified only a heterozygous nonsense variant, but mRNA analysis revealed the presence of an aberrant transcript isoform due to a novel deep intronic variant (c.2035-274G > A) leading to activation of an intronic pseudo-exon. …”
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    Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation
  2. 2462
    “…We also assessed mRNA concentrations and their synthesis rates in nonsense-mediated decay (NMD) targets in euploid strains. …”
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    The total mRNA concentration buffering system in yeast is global rather than gene-specific
  3. 2463
    “…While Up-Frameshift 1(UPF1) is a key protein factor in the nonsense-mediated mRNA degradation pathway (NMD), its role in carcinogenesis of EEC remains unclear. …”
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    UPF1 impacts on mTOR signaling pathway and autophagy in endometrioid endometrial carcinoma
  4. 2464
    “…A high level of mutational heterogeneity of factor V gene was identified, nonsense mutations, frameshift mutations, missense changes, synonymous sequence variants and intronic changes. …”
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    High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies
  5. 2465
    “…Transmission of the antisense transcript from mother to daughter cells stabilizes notch-1 sense transcript in G0 phase of daughter cells by masking it from RNA editing and resultant nonsense-mediated degradation. In consequence, nAS25-mediated amplification of notch-1 signaling reprograms G1 phase in daughter cells to compensate for the altered dynamics of the mother cell. …”
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    The fate of notch-1 transcript is linked to cell cycle dynamics by activity of a natural antisense transcript
  6. 2466
    “…The PI3K-related kinase (PIKK) SMG1 monitors the progression of metazoan nonsense-mediated mRNA decay (NMD) by phosphorylating the RNA helicase UPF1. …”
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    Cryo-EM reconstructions of inhibitor-bound SMG1 kinase reveal an autoinhibitory state dependent on SMG8
  7. 2467
    “…In-depth sequence comparison of the updated gene repertoire revealed that FAR1 genes underwent continuous structural divergence via frameshift and nonsense mutations that caused premature translation termination or specific domain truncations. …”
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    Recurrent mutations promote widespread structural and functional divergence of MULE-derived genes in plants
  8. 2468
    “…Such mutations induce nonsense-mediated decay (NMD), a cellular quality control mechanism that reduces the quantity of PTC bearing mRNAs, presumably to avoid translation of potentially deleterious truncated CFTR proteins. …”
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    Integrity and Stability of PTC Bearing CFTR mRNA and Relevance to Future Modulator Therapies in Cystic Fibrosis
  9. 2469
    “…Variant types were as follows: nonsense (stopgain) in five (62.5%) and missense in three (37.5%). …”
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    Late diagnoses of Dravet syndrome: How many individuals are we missing?
  10. 2470
    “…Analyses of stop-lost, nonsense, UTR, and splice site SNPs were also conducted. …”
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    Identification of deleterious single nucleotide polymorphism (SNP)s in the human TBX5 gene & prediction of their structural & functional consequences: An in silico approach
  11. 2471
    “…SMG6 is an endonuclease, which cleaves mRNAs during nonsense-mediated mRNA decay (NMD), thereby regulating gene expression and controling mRNA quality. …”
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    Cell Type-Specific Role of RNA Nuclease SMG6 in Neurogenesis
  12. 2472
    “…Although the RNA helicase Upf1 has hitherto been examined mostly in relation to its cytoplasmic role in nonsense mediated mRNA decay (NMD), here we report high-throughput ChIP data indicating genome-wide association of Upf1 with active genes in Schizosaccharomyces pombe. …”
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    Genome-wide chromosomal association of Upf1 is linked to Pol II transcription in Schizosaccharomyces pombe
  13. 2473
    “…Moreover, a construct with a nonsense mutation at the same residue, p.Gly664*, shows a very similar effect on the location of the NCL protein, thus confirming the presence of a predicted nucleolar location signal in this region of the NCL protein. …”
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    Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization
  14. 2474
    “…Mild and severe phenotypes were compared with the types and location of the variants and the predicted presence or absence of nonsense-mediated RNA decay (NMD). Missense variants were more often associated with mild phenotypes (p = 0.0421) and truncating variants predicted to escape NMD presented with more severe phenotypes (p < 0.0001). …”
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    Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring
  15. 2475
    “…This mutation type causes a severe form of the disease, likely because of low CFTR messenger RNA (mRNA) expression as a result of nonsense-mediated mRNA decay, as well as the production of a nonfunctional, truncated CFTR protein. …”
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    Open reading frame correction using splice-switching antisense oligonucleotides for the treatment of cystic fibrosis
  16. 2476
    “…A candidate-gene approach previously identified a nonsense mutation in the gene coding for the enzyme lysine-deficient 4 protein kinase (WNK4) associated with the disease in Burmese and Tonkinese cats. …”
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    Absence of 2899C<T Mutation in the WNK4 Gene in a Free-Ranging Lion (Panthera leo) with Polymyopathy
  17. 2477
    “…RESULTS: Heterozygous nonsense mutation in ZNF341 was found in ten samples (5%) of the study group compared to zero in the control group (p<0.01). …”
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    Hyper IgE Syndrome in an Isolated Population in Israel
  18. 2478
    “…Here, we investigate the sequence of the deep intronic region included in this transcript and show that it is also present in cells from healthy individuals, albeit in lower amounts than in XDP cells, and that it undergoes degradation by nonsense-mediated mRNA decay. Furthermore, we investigate epigenetic marks (e.g., DNA methylation and histone modifications) present in this intronic region and the spanning sequence. …”
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    Transcriptional Alterations in X-Linked Dystonia–Parkinsonism Caused by the SVA Retrotransposon
  19. 2479
    “…Duchenne muscular dystrophy (DMD) is a progressive muscle-wasting disease caused by out-of-frame or nonsense mutation in the dystrophin gene. It begins with a loss of ambulation between 9 and 14 years of age, followed by various other symptoms including cardiac dysfunction. …”
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    Renadirsen, a Novel 2′OMeRNA/ENA(®) Chimera Antisense Oligonucleotide, Induces Robust Exon 45 Skipping for Dystrophin In Vivo
  20. 2480
    “…OBSERVATIONS: A six-year-old girl with a diagnosis of Alström syndrome based on a homozygous nonsense likely pathogenic variant in ALMS1 (NM_015120.4:c.4746C > G; p.Tyr1582Ter) was seen in the ophthalmology clinic for nystagmus, photophobia, and poor vision with non-recordable scotopic and photopic electroretinography (ERG) responses. …”
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    Neovascularization of the optic disc and peripheral retinal ischemia in a child with a novel variant in ALMS1 (Alström syndrome)
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