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  1. 321
    “…In this report, we describe three siblings with intellectual disability (ID) or global developmental delay and a KAT6A heterozygous nonsense mutation, i.e., c.3070C>T (p.R1024*, ENST00000406337; chr8:41795056G>A on hg19). …”
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    Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism
  2. 322
    “…CONCLUSION: This study showed that FBN1 gene frameshift and nonsense mutations are more common in patients with aortic dissection and may have meaningful guidance for the treatment of Marfan syndrome patients.…”
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    Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection
  3. 323
    “…This study aims to find BMD cases with nonsense/frameshift mutations in DMD and to investigate the exon skipping rate of those nonsense/frameshift mutations. …”
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    Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy
  4. 324
    “…A transcriptome-wide analysis reveals that hundreds of mRNA isoforms targeted by nonsense-mediated decay (NMD) are upregulated. Mechanistically, recruiting CASC3 to reporter mRNAs by direct tethering or via binding to the EJC stimulates mRNA decay and endonucleolytic cleavage at the termination codon. …”
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    CASC3 promotes transcriptome-wide activation of nonsense-mediated decay by the exon junction complex
  5. 325
    “…Bioinformatics analysis and three-dimensional structural modeling predicted that these missense and nonsense mutations have functional importance, and mainly affected on cytochrome c oxidase (complex IV). …”
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    Association of Pathogenic Missense and Nonsense Mutations in Mitochondrial COII Gene with Familial Adenomatous Polyposis (FAP)
  6. 326
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    A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease
  7. 327
    “…Sanger sequencing showed germline nonsense mutation of ARMC5 c.967C>T (p.Gln323Ter). …”
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    A novel nonsense mutation in ARMC5 causes primary bilateral macronodular adrenocortical hyperplasia
  8. 328
    “…Direct sequence analysis detected a nonsense SOX10 mutation (c.373C>T, p.Glu125X) in this patient. …”
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    A novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome
  9. 329
    “…Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory individuals aged two years and older. …”
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    A qualitative study on the impact of caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy
  10. 330
    “…Results: ES unraveled compound heterozygous missense and nonsense variants (c.315G>A, p.Trp105* and c.1192G>C, p.Asp398His) in SLC18A3. …”
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    Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3
  11. 331
    “…Ataluren was approved for the treatment of DMD caused by nonsense mutations in 2014, and several clinical trials documented its efficacy and safety. …”
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    Early treatment with Ataluren of a 2-year-old boy with nonsense mutation Duchenne dystrophy
  12. 332
    “…AIM: We investigated the effect of ataluren plus standard of care (SoC) on age at loss of ambulation (LoA) and respiratory decline in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) versus patients with DMD on SoC alone. …”
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    Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients
  13. 333
    “…We have recently detected a nonsense variant in RYR2 in a young patient who suffered an unexplained cardiac arrest. …”
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    Characterization of the mechanism by which a nonsense variant in RYR2 leads to disordered calcium handling
  14. 334
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    Novel presentation of SCN5A nonsense mutation as SCN5A overlap syndrome
  15. 335
    “…Approximately 10% of cystic fibrosis patients harbor nonsense mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene which can generate nonsense codons in the CFTR mRNA and subsequently activate the nonsense-mediated decay (NMD) pathway resulting in rapid mRNA degradation. …”
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    CFTR mRNAs with nonsense codons are degraded by the SMG6-mediated endonucleolytic decay pathway
  16. 336
    “…CONCLUSIONS: WES identified a novel homozygous nonsense mutation c.1177C>T in BBS1 of a Chinese fetus with congenital renal malformation. …”
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    Novel homozygous nonsense mutation associated with Bardet–Biedl syndrome in fetuses with congenital renal malformation
  17. 337
    “…Nonsense-mediated mRNA decay (NMD) is a quality control pathway in eukaryotes that continuously monitors mRNA transcripts to ensure truncated polypeptides are not produced. …”
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    Features and factors that dictate if terminating ribosomes cause or counteract nonsense-mediated mRNA decay
  18. 338
    “…Increased accumulation of RTs is detected in the nonsense-mediated mRNA decay (NMD)-deficient mutants compared with wild type, and the second open reading frames (ORFs) of bicistronic mRNAs are rarely translated in contrast to the first ORFs. …”
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    Intergenic splicing-stimulated transcriptional readthrough is suppressed by nonsense-mediated mRNA decay in Arabidopsis
  19. 339
    “…She was found to carry a novel heterozygous nonsense mutation insulin receptor gene (INSR). The mutation was inherited from the mother. …”
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    A novel nonsense mutation in the insulin receptor gene in a patient with HAIR-AN syndrome and endometrial cancer
  20. 340
    “…Nonsense-mediated mRNA decay (NMD) is a highly conserved regulatory mechanism of post-transcriptional gene expression in eukaryotic cells. …”
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    UPF3A is dispensable for nonsense-mediated mRNA decay in mouse pluripotent and somatic cells
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