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  1. 3041
    “…Homozygous nonsense mutations in CEP55 are associated with several congenital malformations that lead to perinatal lethality suggesting that it plays a critical role in regulation of embryonic development. …”
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    Cep55 regulation of PI3K/Akt signaling is required for neocortical development and ciliogenesis
  2. 3042
    “…All the identified variants predict protein truncation (11 frameshift, 2 nonsense, 1 splicing‐site, and 6 large intragenic deletions); there are no repeatedly identified sequence variants. …”
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    Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome
  3. 3043
    “…We previously demonstrated that FMRP binds mRNAs targeted for nonsense-mediated mRNA decay (NMD) and that FMRP loss results in hyperactivated NMD and inhibition of neuronal differentiation in human stem cells. …”
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    NMD abnormalities during brain development in the Fmr1-knockout mouse model of fragile X syndrome
  4. 3044
    “…A total of 109 subjects from Spain and Germany (4–14 years) evaluated 20 multi-modal instances of nonsense emotional speech, under several environmental and visual conditions. …”
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    The perception of emotional cues by children in artificial background noise
  5. 3045
    “…We discovered two possible causative variants associated to the respective phenotypes: a deletion in GB46429 or Ebony (NC_007070.3:g.14101325G>del) (R69Efs*85) and a nonsense on GB54634 (NC_007076.3:g.4492792A>G;p.Tyr128*) causing a premature stop, substantially shortening the predicted protein. …”
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    Attack of the dark clones the genetics of reproductive and color traits of South African honey bees (Apis mellifera spp.)
  6. 3046
    “…We also observed 41 protein-altering variants (38 missense variants, four frameshifts, and one nonsense variant) that were not significantly associated with SCH. …”
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    Evidence for the Association between the Intronic Haplotypes of Ionotropic Glutamate Receptors and First-Episode Schizophrenia
  7. 3047
    “…In addition, it detected aberrant splicing resulting from a COL7A1 mutation (c.2527C > T) which was previously reported as a nonsense mutation. Furthermore, we revealed that type VII collagen-expressing cells in PBMCs have similar cell surface markers as mesenchymal stem cells; they were CD105(+), CD29(+), CD45(−), and CD34(−), suggesting that a small number of mesenchymal stem cells or mesenchymal stromal cells are circulating in the peripheral blood, which enables us to detect COL7A1 mRNA in PBMCs. …”
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    Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Testing Mutation Consequences in Dystrophic Epidermolysis Bullosa
  8. 3048
    “…A review of the ALMS1 gene nonsense mutation status was performed. CONCLUSION: We herein report two novel variants of the ALMS1 gene discovered in a Chinese Alström syndrome patient that expand the mutational spectrum of ALMS1 and provided new insight into the molecular mechanism underlying Alström syndrome. …”
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    Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome
  9. 3049
    “…Four DHTKD1 variants were previously described pathogenic variants, seven were recurrent, and eight were located in the E1_dh dehydrogenase domain. Nonsense variants located in the E1_dh domain were significantly more prevalent in ALS patients versus controls. …”
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    Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients
  10. 3050
    “…Our studies showed that SF3B1 inhibition perturbs exon skipping, leading to nonsense-mediated decay and diminished levels of DNA damage response–related transcripts, such as the serine/threonine kinase CHEK2, and impaired DNA damage response. …”
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    SF3B1 homeostasis is critical for survival and therapeutic response in T cell leukemia
  11. 3051
    por Shaffer, Justin M., Greenwald, Iva
    Publicado 2022
    “…Here, we describe the Floxed exon (Flexon) approach, which uses a stop cassette composed of an artificial exon flanked by artificial introns, designed to cause premature termination of translation and nonsense-mediated decay of the mRNA and allowing for flexible placement into a gene. …”
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    Floxed exon (Flexon): A flexibly positioned stop cassette for recombinase-mediated conditional gene expression
  12. 3052
    “…Whole-genome sequencing revealed nonsense mutations of PSR1 and PDE2 in the thermotolerant progenies. …”
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    Meiosis-Based Laboratory Evolution of the Thermal Tolerance in Kluyveromyces marxianus
  13. 3053
    “…Here, we show that an HLD7-associated nonsense mutation of Arg140-to-Ter (R140X) primarily localizes POLR3A proteins as protein aggregates into lysosomes in mouse oligodendroglial FBD−102b cells, whereas the wild type proteins are not localized in lysosomes. …”
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    Hypomyelinating Leukodystrophy 7 (HLD7)-Associated Mutation of POLR3A Is Related to Defective Oligodendroglial Cell Differentiation, Which Is Ameliorated by Ibuprofen
  14. 3054
    “…Both had a homozygous nonsense mutation in the ISG15 gene, leading to unstable ISG15 protein lacking the functional domain. …”
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    Congenital deficiency reveals critical role of ISG15 in skin homeostasis
  15. 3055
    “…Here, we screened 101 gastric cancer (GC) patients at diagnosis and 141 healthy control subjects and reported one such subpopulation of GC patients with rs17718883 polymorphism in PD-L1, resulting in a nonsense P146R mutation. We detected rs17718883 in 44% of healthy control subjects, and rs17718883 was associated with a low susceptibility to GC and better prognosis in GC patients. …”
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    PD-L1(P146R) is prognostic and a negative predictor of response to immunotherapy in gastric cancer
  16. 3056
    “…Herein, we show that a severe HLD8-associated nonsense mutation (Arg550-to-Ter (R550X)) primarily localizes POLR3B proteins as protein aggregates into lysosomes in the FBD-102b cell line as an oligodendroglial precursor cell model. …”
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    Hypomyelinating Leukodystrophy 8 (HLD8)-Associated Mutation of POLR3B Leads to Defective Oligodendroglial Morphological Differentiation Whose Effect Is Reversed by Ibuprofen
  17. 3057
    “…Remarkably, of the now 52 RARS2 variants reported in 54 patients, our reanalysis found that 44 (85%) have been shown to or are predicted to affect splicing or gene expression leading to protein truncation or nonsense‐mediated decay. We expand the RARS2 phenotypic spectrum to include infantile encephalopathy and suggest this gene is enriched for pathogenic variants that disrupt splicing.…”
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    Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype
  18. 3058
    “…Latent 5ʹ splice sites, not normally used, are highly abundant in human introns, but are activated under stress and in cancer, generating thousands of nonsense mRNAs. A previously proposed mechanism to suppress latent splicing was shown to be independent of NMD, with a pivotal role for initiator-tRNA independent of protein translation. …”
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    A novel role for nucleolin in splice site selection
  19. 3059
    “…RESULTS: Three patients with metastatic CRC were heterozygous for a previously known BRCA1 nonsense variant. All tumors showed remarkably high HRD scores, and the HRD-related signature 3 had the second highest contribution to the somatic pattern of variant accumulation in the samples (23% in 1 and 2, and 13% in sample 3). …”
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    Case Report Series: Aggressive HR Deficient Colorectal Cancers Related to BRCA1 Pathogenic Germline Variants
  20. 3060
    “…Moreover, MMR affects outcomes of therapy by DNA damaging drugs, antimetabolites, nonsense-mediated mRNA decay (NMD) inhibitors, and immunotherapy by promoting either resistance or sensitivity, depending on the type of therapy.…”
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    Spectrum of DNA mismatch repair failures viewed through the lens of cancer genomics and implications for therapy
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