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  1. 81
    por Quinn, Greg
    Publicado 2010
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    Epigenetics & modern phenotypes: the biological nonsense of sub-talar neutral
  2. 82
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    The sense and nonsense of direct-to-consumer genetic testing for cardiovascular disease
  3. 83
    “…We analyzed the sequence data for non-synonymous variants in candidate genes and found a heterozygous nonsense variant in the X-chromosomal IKBKG gene (c.184C>T; p.Arg62*). …”
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    A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti
  4. 84
    “…These modifications promote the binding of distinct polypeptides that mediate a diverse array of functions needed for mRNA metabolism, including nuclear export, inspection by the nonsense-mediated mRNA decay (NMD) quality-control machinery, and synthesis of the encoded protein product. …”
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    The Dharma of Nonsense-Mediated mRNA Decay in Mammalian Cells
  5. 85
    “…The ASOs promote aberrant exon skipping and generation of premature termination codon (PTC)-containing mRNAs. We inhibit the nonsense-mediated mRNA decay (NMD) pathway and show that the PTC-containing mRNAs are recognized by the UPF1 ATPase, cleaved by the SMG6 endonuclease and degraded by the XRN1 cytoplasmic exonuclease. …”
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    Nonsense-mediated decay as a terminating mechanism for antisense oligonucleotides
  6. 86
    “…The nonsense-mediated mRNA decay (NMD) pathway is responsible for the rapid degradation of eukaryotic mRNAs on which ribosomes fail to terminate translation properly. …”
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    How and where are nonsense mRNAs degraded in mammalian cells?
  7. 87
    “…The nonsense-mediated mRNA decay (NMD) pathway selectively eliminates aberrant transcripts containing premature translation termination codons (PTCs) and regulates the levels of a number of physiological mRNAs. …”
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    Intracellular Calcium Regulates Nonsense-Mediated mRNA Decay
  8. 88
    “…Here, we describe a nonsense haplotype in PRNP associated with clinical Alzheimer's disease. …”
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    A nonsense mutation in PRNP associated with clinical Alzheimer's disease()
  9. 89
    “…Genes involved in the mRNA quality control process, nonsense-mediated decay (NMD), were found to genetically interact with rad55 phospho-site mutants. …”
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    Nonsense-mediated decay regulates key components of homologous recombination
  10. 90
    “…Nonsense-mediated mRNA decay (NMD) is a conserved pathway that strongly influences eukaryotic gene expression. …”
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    The Substrates of Nonsense-Mediated mRNA Decay in Caenorhabditis elegans
  11. 91
    “…This pattern may be due to alternative splicing which preserves function of some isoforms of nonsense alleles of genes.…”
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    Are Nonsense Alleles of Drosophila melanogaster Genes under Any Selection?
  12. 92
    por Zhou, Hongyi, Gao, Mu, Skolnick, Jeffrey
    Publicado 2018
    “…Here, we extend the machine learning based approach ENTPRISE developed for predicting the disease association of missense mutations to frameshift and nonsense mutations. The new approach, ENTPRISE-X, is shown to outperform the state-of-the-art methods VEST-indel and DDIG-in for predicting the disease association of germline frameshift mutations in terms of balanced measure Matthew’s correlation coefficient, MCC, with a MCC of 0.586 for ENTPRISE-X, versus 0.412 by VEST-indel and 0.321 by DDIG-in, respectively. …”
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    ENTPRISE-X: Predicting disease-associated frameshift and nonsense mutations
  13. 93
    por Lloyd, James P. B.
    Publicado 2018
    “…Nonsense-mediated mRNA decay is a eukaryotic pathway that degrades transcripts with premature termination codons (PTCs). …”
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    The evolution and diversity of the nonsense-mediated mRNA decay pathway
  14. 94
    “…CASE PRESENTATION: The patient was a 3.5-year-old girl, a product of consanguineous first-degree cousin marriage, who was homozygous for a nonsense mutation in NHEJ1 gene. She had initially presented with failure to thrive, proportional microcephaly as well as autoimmune hemolytic anemia (AIHA), which responded well to treatment with prednisolone. …”
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    An immunocompetent patient with a nonsense mutation in NHEJ1 gene
  15. 95
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    MicroRNA and Nonsense Transcripts as Putative Viral Evasion Mechanisms
  16. 96
    “…Herein, we report two female cases with novel nonsense mutations of STAG2 at Xq25, encoding stromal antigen 2, a component of the cohesion complex. …”
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    Nonsense variants of STAG2 result in distinct congenital anomalies
  17. 97
    “…A genetic analysis revealed a nonsense mutation in the desmoplakin gene. Thus, he was diagnosed with left‐dominant arrhythmogenic cardiomyopathy. …”
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    Left‐dominant arrhythmogenic cardiomyopathy with a nonsense mutation in DSP
  18. 98
    “…Nonsense-mediated decay (NMD) was first described as a quality-control mechanism that targets and rapidly degrades aberrant mRNAs carrying premature termination codons (PTCs). …”
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    Nonsense-mediated RNA decay and its bipolar function in cancer
  19. 99
    “…We aimed to describe a new adult-onset myopathy with muscle weakness and hyperCKemia caused by a nonsense variant in muscular LMNA-interacting protein (MLIP). …”
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    Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing
  20. 100
    “…This review summarizes the current research status of nonsense suppression therapy for hereditary skin diseases, and discusses the potential opportunities and challenges of applying new technologies related to nonsense suppression therapy to dermatology. …”
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    Nonsense Suppression Therapy: An Emerging Treatment for Hereditary Skin Diseases
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