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  1. 2341
    “…These include the POLR2A interacting protein INTS10 as well as genes involved in mRNA splicing, nonsense-mediated mRNA decay and other RNA processing pathways. …”
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    Somatic Mutation Patterns in Hemizygous Genomic Regions Unveil Purifying Selection during Tumor Evolution
  2. 2342
    “…In the repeated-epilation (ER) mouse model, a heterozygous nonsense mutation of 14-3-3σ causes repeated hair-loss, hyper-proliferative epidermis, and spontaneous development of papillomas and squamous cell carcinomas in aging mice. …”
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    Deletion of 14-3-3σ sensitizes mice to DMBA/TPA-induced papillomatosis
  3. 2343
    “…No mutation of POU3F4 gene was found in 834 controls. CONCLUSIONS: A nonsense mutation is identified in a family displaying the pedigree consistent with X-linked recessive pattern in POU3F4 gene. …”
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    A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family
  4. 2344
    “…Besides degrading aberrant mRNAs that harbor a premature translation termination codon (PTC), nonsense-mediated mRNA decay (NMD) also targets many seemingly “normal” mRNAs that encode for full-length proteins. …”
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    Transcriptome-wide identification of NMD-targeted human mRNAs reveals extensive redundancy between SMG6- and SMG7-mediated degradation pathways
  5. 2345
    “…Nine patients had homozygous c.123_124insA mutation, and 1 patient had c.123_124insA and another nonsense mutation (547C>T). Umbilical cord separation occurred on the 14th day after birth or thereafter. …”
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    Invasive Bacterial Infection in Patients with Interleukin-1 Receptor-associated Kinase 4 Deficiency: Case Report
  6. 2346
    “…We identified 1,968 somatic mutations, including 1,710 missense, 106 nonsense, 144 splice site, 4 lncRNA, 3 nonstop, and 1 start codon mutation. …”
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    Cervical small cell neuroendocrine tumor mutation profiles via whole exome sequencing
  7. 2347
    “…Targeted exome capture based next generation sequencing and Sanger sequencing identified that the proband was a compound heterozygote with two novel mutations in SEPN1 gene; a novel missense mutation (c.1384T>C; p.Sec462Arg) and a novel nonsense mutation (c.1525C>T; p.Gln509Ter), inherited from his father and mother respectively. …”
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    Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1
  8. 2348
    “…Finally, a novel missense mutation p.Arg802Leu and a novel nonsense mutation (c.2442C>G causing p.K792⁎) were identified in patient 3.…”
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    Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome
  9. 2349
    “…We examined four members of this family, including three affected and one unaffected. A novel nonsense mutation (Y1495X) in SCN5A was identified in the affected family members. …”
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    Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death
  10. 2350
    “…While family-32 segregated a homozygous nonsense mutation (c.448 C>T) in exon five, resulting in a premature truncation at amino acid position 150 (p.Arg150X) in the motor domain of this protein. …”
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    Screening of Myo7A Mutations in Iranian Patients with Autosomal Recessive Hearing Loss from West of Iran
  11. 2351
    “…However, this three-stage model of humor processing does not apply to absurd humor (so-called nonsense humor). Absurd humor contains an unresolvable incongruity but can still induce a feeling of mirth. …”
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    To Resolve or Not To Resolve, that Is the Question: The Dual-Path Model of Incongruity Resolution and Absurd Verbal Humor by fMRI
  12. 2352
    “…In silico analysis, using SIFT Indel, indicates that this frameshift; p.Lys206Profs*13 is functionally damaging with the likely involvement of nonsense-mediated mRNA decay. CONCLUSIONS: Upon comparing the clinical picture of the herewith-reported individual with previously reported cases of MRD21, there seems to be many common symptoms, and few new ones that were not observed before. …”
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    Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report
  13. 2353
    “…Participants completed three tasks: (a) word recognition, (b) repetition and lexical decision of real and nonsense words, and (c) novel word learning. Performance improved significantly with amplification for both the children and the adults with hearing loss. …”
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    Word Recognition and Learning: Effects of Hearing Loss and Amplification Feature
  14. 2354
    “…Three mRNA quality control systems monitor mRNAs for translational errors: nonsense-mediated decay, non-stop decay (NSD) and no-go decay (NGD) pathways. …”
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    The non-stop decay mRNA surveillance pathway is required for oxidative stress tolerance
  15. 2355
    “…However, WES identified a previously reported homozygous nonsense mutation in KIZ (c.226C>T, p.Arg76*) in two affected sisters, but not in their affected second cousin. …”
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    Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree
  16. 2356
    “…The mutant mRNA escaped nonsense‐mediated decay and generated a GPCR lacking two transmembrane domains and the carboxyl‐terminal tail. …”
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    Paradoxical gain‐of‐function mutant of the G‐protein‐coupled receptor PROKR2 promotes early puberty
  17. 2357
    “…The missense mutations on the gene encoding KIT led to the low expression of its mRNAs and there were much fewer nonsense mutations compared with other genes. It suggested that the important role of KIT as an oncogene in the progression of cancer, as well as a tyrosine-protein kinase during the normal activity. …”
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    KIT performed as a driver gene candidate affecting the survival status of patients with stomach adenocarcinoma
  18. 2358
    “…The transcript includes the insertion of 185 nucleotides with a premature stop codon at chrX:66863131-66863133, likely resulting in a reduction in AR protein expression due to nonsense-mediated decay. CONCLUSIONS: An intronic AR mutation was identified in the Dallas Reifenstein family. …”
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    Identification of the Underlying Androgen Receptor Defect in the Dallas Reifenstein Family
  19. 2359
    “…RESULTS: We detected 3 heterozygous mutations, including 2 novel frameshift mutations (c.819insA (273LfsX) and c.1264insTAGATGG (421LfsX)) and 1 recurrent nonsense mutation (c.115C>T (R39X)). To the best of our knowledge, 90 different mutations (including our current results) have been reported in China, all of which occurred in the Chinese Han population. …”
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    Identification of 2 Novel Mutations in ATP2C1 Gene in Hailey-Hailey Disease and a Literature Review of Variations in a Chinese Han Population
  20. 2360
    “…As a test case, cultured skin-fibroblast nuclei of individuals possessing LMNA splice-site mutation (c.357-2A>G), LMNA nonsense mutation (c.736 C>T, pQ246X) in exon 4, LMNA missense mutation (c.1003C>T, pR335W) in exon 6, Hutchinson-Gilford Progeria Syndrome, and no LMNA mutations were analyzed. …”
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    Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations
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