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  1. 3101
    “…CRISPR/Cas9 introduction of nonsense mutations within EXOSC2 in Calu-3 cells reduced EXOSC2 protein expression and impeded SARS-CoV-2 replication without impacting cellular viability. …”
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    Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication
  2. 3102
    “…Moreover, our data reveal that the adaptive increase of EGFL7 during this process is controlled by the depression of nonsense-mediated mRNA decay (NMD) pathway. Upregulation of EGFL7 activates NOTCH signaling in lung cancer cells, which slows down the decrease of c-Myc caused by EGFR inhibition, thereby helping the survival of cancer cells. …”
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    EGFL7 drives the evolution of resistance to EGFR inhibitors in lung cancer by activating NOTCH signaling
  3. 3103
    “…Variants detected included 4 missense variants, 1 nonsense variant, 1 splice site variant, and 2 genomic deletions. …”
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    Adenomatous Polyposis Phenotype in BMPR1A and SMAD4 Variant Carriers
  4. 3104
    “…The mutation in patient 1 was a novel heterozygous nonsense mutation (NM_000214 exon20, c.2419G > T, p.E807Ter), which was a spontaneous mutation. …”
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    Case Report: Novel JAG1 gene mutations in two infants with alagille syndrome characterized by cholestasis
  5. 3105
    “…Moreover, by interacting with the internal ribosome entry site (IRES) or 3′-UTR of mRNAs, hnRNP A1 can affect mRNA translation. hnRNP A1 can alter the stability of mRNAs by binding to specific locations of 3′-UTR, miRNAs biogenesis and Nonsense-mediated mRNA decay (NMD) pathway. In this review, we conclude the selective sites where hnRNP A1 binds to RNA and DNA, and the co-regulatory factors that interact with hnRNP A1. …”
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    hnRNP A1 in RNA metabolism regulation and as a potential therapeutic target
  6. 3106
    “…CONCLUSIONS: Two of the reported mutations (11085TTT insertion and C27945T nonsense), which seemed to reduce Type I interferon response are linked to specific geographical locations of the host and implicate region-specific mutations in the virus. …”
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    Geographical distribution of host's specific SARS-CoV-2 mutations in the early phase of the COVID-19 pandemic
  7. 3107
    por Han, Bo-yue, Liu, Zhebin, Hu, Xin, Ling, Hong
    Publicado 2022
    “…Elevated levels of the HNRNPU-DDX5 complex prohibited the intron retention of minichromosome maintenance protein 10 (MCM10) pre-mRNA, decreased nonsense-mediated mRNA decay, and activated Wnt/β-catenin signalling; on the other hand, HNRNPU-DDX5 is located in the transcriptional start sites (TSS) of LIM domain only protein 4 (LMO4) and its upregulation promoted the transcription of LMO4, consequently activating PI3K-Akt-mTOR signalling. …”
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    HNRNPU promotes the progression of triple-negative breast cancer via RNA transcription and alternative splicing mechanisms
  8. 3108
    “…Previous mathematical models of schwannoma incidence have not attempted to account for alterations in specific genes, and could not distinguish between nonsense mutations and loss of heterozygosity (LOH). …”
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    A mechanistic mathematical model of initiation and malignant transformation in sporadic vestibular schwannoma
  9. 3109
    “…Here, capitalizing on exonic protospacer adjacent motif–altering (PAM-altering) SNP (PAS), we developed an allele-specific CRISPR/Cas9 strategy to permanently inactivate mutant HTT through nonsense-mediated decay (NMD). Comprehensive sequence/haplotype analysis identified SNP-generated NGG PAM sites on exons of common HTT haplotypes in HD subjects, revealing a clinically relevant PAS-based mutant-specific CRISPR/Cas9 strategy. …”
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    Allele-specific silencing of the gain-of-function mutation in Huntington’s disease using CRISPR/Cas9
  10. 3110
    “…Proteomics of M. tuberculosis and close evaluation of mutational lesions driving pseudogenization suggest that few in silico predicted pseudogenes are likely capable of neofunctionalization, nonsense mutation reversal, or phase variation, contradicting the classical definition of pseudogenes. …”
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    The rate and role of pseudogenes of the Mycobacterium tuberculosis complex
  11. 3111
    “…A twelve-year-old patient with a previous clinical diagnosis of spondylocostal skeletal dysplasia and moderate intellectual disability was genetically analyzed through next generation sequencing of a targeted gene panel of 179 genes associated to skeletal dysplasia and mucopolysaccharidosis in order to stablish a precision diagnosis. A homozygous nonsense [c.62C>G; p.(Ser21Ter)] mutation in DYM gene was identified in the patient. …”
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    Case Report: Precision genetic diagnosis in a case of Dyggve-Melchior-Clausen syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications
  12. 3112
    por Mallavarapu, Amrita, Taksande, Amar
    Publicado 2022
    “…Cardiomyopathy can also occur with or without left ventricular dysfunction, as in left ventricular non-compaction cardiomyopathy (LVNC), which is a rare heart disease occurring due to two (likely) pathogenic nonsense mutations: DSG2-p.S363X and TBX20-p.D278X. …”
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    Dilated Cardiomyopathy in Children: Early Detection and Treatment
  13. 3113
    “…Nonsense-mediated RNA decay (NMD) is a highly conserved and selective RNA turnover pathway that depends on the endonuclease SMG6. …”
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    SMG6 localizes to the chromatoid body and shapes the male germ cell transcriptome to drive spermatogenesis
  14. 3114
    “…This suggests a possible role for mainchain amides in selectivity. We use nonsense suppression to insert α-hydroxy acids at pore-lining positions in two CLC-type channels, CLC-0 and bCLC-k, thus exchanging peptide-bond amides with ester-bond oxygens which are incapable of hydrogen-bonding. …”
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    Backbone amides are determinants of Cl(−) selectivity in CLC ion channels
  15. 3115
    “…Results: Five point mutations and six frameshift mutations in the ELN gene were detected in the peripheral blood of all investigated families. Nine were nonsense mutations that result in premature stop codons, and the other two were missense mutations. …”
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    Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosis
  16. 3116
    “…All three patients with type 1 VHL had the well-known missense mutation p.Glu70Lys, and one patient with type 2 VHL had the nonsense mutation p.Trp88Ter. CONCLUSIONS: In Korean patients with RCH, bilateral involvement and juxtapapillary RCH are highly likely to be associated with VHL disease. …”
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    Clinical and Genetic Characteristics of Retinal Capillary Hemangioblastoma in Korean Patients
  17. 3117
    “…The majority of transcripts affected by splicing changes showed restoration of encoded conserved protein domains and/or reduced targeting to the nonsense-mediated decay pathway. Affected genes were enriched in functionally important immune cell activation pathways such as antigen-mediated signaling, cell cycle control and mRNA processing and splicing. …”
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    Reversal of splicing infidelity is a pre-activation step in B cell differentiation
  18. 3118
    “…The numbers of frameshift, nonsense, splice-site, and missense mutations were one, one, two, and two, respectively; two of the six mutations were novel. …”
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    Re-recognition of BMPR1A-related polyposis: beyond juvenile polyposis and hereditary mixed polyposis syndrome
  19. 3119
    “…DNA sequencing of the WFS1 gene which encodes for Wolframin ER Transmembrane Glycoprotein identified a heterozygous nonsense variant NM_006005.3: c.1999C>T p.(Gln667*) and a heterozygous missense variant c.2170C>T p.…”
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    A Pair of Siblings With Wolfram Syndrome: A Review of the Literature and Treatment Options
  20. 3120
    “…We found 534 (71.21%) large deletions, 73 (9.73%) large duplications, and 112 (14.93%) point mutations, of which 44 (5.9%) were small ins/del causing frame-shifts, 57 (7.6%) nonsense mutations, 8 (1.1%) splice site and 3 (0.4%) intronic mutations, and 31 (4.13%) non mutations. …”
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    Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy
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