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  1. 3081
    “…The newly spliced transcript is so short that would be degraded by nonsense‐mediated mRNA decay in vitro and we infer that the novel DKC1 mutation would influences normal physiological function of dyskerin. …”
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    Intron retention by a novel intronic mutation in DKC1 gene caused recurrent still birth and early death in a Chinese family
  2. 3082
    “…W24X and W77X are two nonsense mutations and three polymorphisms viz. R127H, V153I, and I33T were reported along with four 3′-UTR variants. …”
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    Analysis of Genetic Variations in Connexin 26 ( GJB2 ) Gene among Nonsyndromic Hearing Impairment: Familial Study
  3. 3083
    “…We subdivide the ATRX aberrations into nonsense, missense, and multiexon deletions (MEDs) and show that 68% of them are MEDs. …”
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    Mutational spectrum of ATRX aberrations in neuroblastoma and associated patient and tumor characteristics
  4. 3084
    “…Here, we identified a novel cytochrome c oxidase, cox7c (W56*), nonsense mutation in the laboratory and found that it caused reduced colony growth and resistance to multiantifungal agents. …”
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    Deletion of cox7c Results in Pan-Azole Resistance in Aspergillus fumigatus
  5. 3085
    “…The highly conserved N protein plays a crucial role in viral assembly and pathogenicity by interacting with the host ribosomal subunits and suppressing nonsense mediated decay (NMD) of viral mRNA by the host cell. …”
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    In-silico screening to delineate novel antagonists to SARS-CoV-2 nucleocapsid protein
  6. 3086
    “…We show that alternative splicing coupled to nonsense-mediated decay decreases STAT2 expression in colder conditions and suggest that increased STAT2 expression at elevated temperature induces the expression of diverse antiviral genes and SARS-CoV-2 restriction factors. …”
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    Body temperature variation controls pre-mRNA processing and transcription of antiviral genes and SARS-CoV-2 replication
  7. 3087
    “…RESULTS: Missense mutations, nonsense mutations, frameshift mutations, and splice‐site variants which were obtained through de‐novo, maternal, or paternal inheritance were included. …”
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    Noninvasive prenatal diagnosis based on cell‐free DNA for tuberous sclerosis: A pilot study
  8. 3088
    “…We detected two rare mutations: W92* - a pathogenic nonsense mutation and D399N – a single nucleotide variant of uncertain pathogenicity. …”
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    Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression
  9. 3089
    “…Microvillus inclusion disease (MVID) is a congenital diarrheal disorder resulting in life-threatening secretory diarrhea in newborns. Inactivating and nonsense mutations in myosin Vb (MYO5B) have been identified in MVID patients. …”
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    Altered MYO5B Function Underlies Microvillus Inclusion Disease: Opportunities for Intervention at a Cellular Level
  10. 3090
    “…We report the case of an infant with severe hypoplastic left heart syndrome with mitral atresia and aortic atresia (HLHS MA‐AA), pulmonary vein stenosis, and atypical facies with a somatic mosaic de novo nonsense variant in KMT2D (c.8200C>T, p.R2734*) identified on trio exome sequencing of peripheral blood and present in 11.2% of sequencing reads. …”
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    Genome‐wide DNA methylation profiling confirms a case of low‐level mosaic Kabuki syndrome 1
  11. 3091
    “…Duchenne muscular dystrophy (DMD) is typically caused by mutations that disrupt the DMD reading frame, but nonsense mutations in the 5′ part of the gene induce utilization of an internal ribosomal entry site (IRES) in exon 5, driving expression of a highly functional N-truncated dystrophin. …”
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    Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse
  12. 3092
    “…The DExD/H-box RNA helicase DHX34 is a nonsense-mediated decay (NMD) factor that together with core NMD factors coregulates NMD targets in nematodes and in vertebrates. …”
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    A dual role for the RNA helicase DHX34 in NMD and pre-mRNA splicing and its function in hematopoietic differentiation
  13. 3093
    por Ward, Lindsey M, Kapoula, Zoi
    Publicado 2022
    “…We propose there may be a link between dyslexic increased creativity and their eye movement abnormalities. Similar to reading nonsense text, we propose that Magritte’s contradictory paintings exacerbate dyslexics’ eye movement abnormalities. …”
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    Creativity, Eye-Movement Abnormalities, and Aesthetic Appreciation of Magritte’s Paintings
  14. 3094
    “…The results showed that a majority of non-synonymous mutations in the coding region were associated with flowering time, and we found that the nonsense mutations resulting in deletion of the CCT domain were related to early flowering. …”
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    Genomic Dissection and Diurnal Expression Analysis Reveal the Essential Roles of the PRR Gene Family in Geographical Adaptation of Soybean
  15. 3095
    “…Mutations occurred in all 11 exons and were missense (55%), splice-site (29%), small deletions and insertions (7%), nonsense (5%), and multiple exon deletions and duplications (2%). …”
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    Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients
  16. 3096
    “…Nucleotide substitutions in protein-coding genes can be divided into synonymous (S) and non-synonymous (N) ones that alter amino acids (including nonsense mutations causing stop codons). The S substitutions are expected to have little effect on function. …”
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    No evidence for widespread positive selection on double substitutions within codons in primates and yeasts
  17. 3097
    “…The results revealed two novel homozygous missense mutations, c.920C>T (p.Leu307Pro) in exon 8 and c.758G>A (p.Arg253His) in exon 7, and one novel homozygous nonsense mutation, c.262C>T (p.Gln88Ter) in exon 4, in the genomic DNA of the first and second patients, respectively. …”
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    Three novel homozygous ITGB2 mutations among two patients with leukocyte adhesion defect type-1: Two case reports
  18. 3098
    “…We report a case of MLASA2 with compound heterozygous YARS2 pathogenic variants; a known pathogenic nonsense variant [NM_001040436.3:c.98C>A (p.Ser33Ter)] and a likely pathogenic missense variant not previously associated with disease [NM_001040436.3:c.948G>T (p.Arg316Ser)]. …”
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    Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants
  19. 3099
    “…BRCA2 maintains genome stability through homology-directed repair (HDR) of DNA double-strand breaks (DSBs) and replication fork protection. Nonsense or frameshift mutations leading to truncation of the BRCA2 protein are typically considered pathogenic; however, missense mutations resulting in single amino acid substitutions can be challenging to functionally interpret. …”
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    BRCA2 BRC missense variants disrupt RAD51-dependent DNA repair
  20. 3100
    “…Here, we identified a novel nonsense mutation (c.C57G, p.Y19X) in the EMD gene in a Han Chinese family through high‐throughput sequencing. …”
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    A novel mutation in human EMD gene and mitochondrial dysfunction in emerin knockdown cardiomyocytes
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