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  1. 2041
    “…Based on the segregation patterns, we further characterize a two-locus Dobzhansky–Müller incompatibility case leading to offspring respiratory deficiency caused by nonsense mutation in a nuclear-encoding mitochondrial gene and tRNA suppressor. …”
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    Comprehensive survey of condition-specific reproductive isolation reveals genetic incompatibility in yeast
  2. 2042
    por Park, Ok Hyun, Do, Eunjin, Kim, Yoon Ki
    Publicado 2015
    “…In the presence of a ligand, however, the mRNA-associated GR can recruit PNRC2 and UPF1, both of which are specific factors involved in nonsense-mediated mRNA decay (NMD). PNRC2 then recruits the decapping complex, consequently promoting mRNA degradation. …”
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    A new function of glucocorticoid receptor: regulation of mRNA stability
  3. 2043
    “…The EJC core does not recruit the nonsense-mediated decay mediaters UPF2 and UPF3 until the BR messenger RNA protein complexes (mRNPs) enter the interchromatin. …”
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    Intranuclear binding in space and time of exon junction complex and NXF1 to premRNPs/mRNPs in vivo
  4. 2044
    “…mRNAs containing premature termination codons (PTCs) are known to be degraded via nonsense-mediated mRNA decay (NMD). Unexpectedly, we found that mRNAs containing any type of PTCs (UAA, UAG, and UGA) are detained in the nucleus, whereas their wild-type counterparts are rapidly exported. …”
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    Premature termination codons are recognized in the nucleus in a reading-frame-dependent manner
  5. 2045
    “…HOT RNAs encode components of the nonsense-mediated decay and splicing machinery, as well as RNA-binding and translation initiation proteins. …”
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    Extensive cross-regulation of post-transcriptional regulatory networks in Drosophila
  6. 2046
    “…With respect to the mutations, five mutations were found in five patients, including two frameshift indels, one nonsense mutation and two missense mutations. CONCLUSIONS: This is the first case series on Kabuki syndrome in Mainland China. …”
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    Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations
  7. 2047
    “…Here we use functional magnetic resonance imaging in Rhesus macaques and humans to examine the brain regions involved in processing the ordering relationships between auditory nonsense words in rule-based sequences. We find that key regions in the human ventral frontal and opercular cortex have functional counterparts in the monkey brain. …”
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    Auditory sequence processing reveals evolutionarily conserved regions of frontal cortex in macaques and humans
  8. 2048
    “…Molecular analysis of ABCD1 gene have shown a pathogenic homozygous nonsense mutation (c.1677C > G; p.(Tyr559*)) in exon 7. …”
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    A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report
  9. 2049
    “…Here, we assessed the role of DksA in transcription fidelity by monitoring stochastic epigenetic switching in the lac operon (with and without an error-prone transcription slippage sequence), partial phenotypic suppression of a lacZ nonsense allele, as well as monitoring the number of lacI mRNA transcripts produced in the presence and absence of DksA via an operon fusion and single molecule fluorescent in situ hybridization studies. …”
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    DksA involvement in transcription fidelity buffers stochastic epigenetic change
  10. 2050
    “…In particular, irradiation induces a new isoform of the RNA helicase DHX9 in the more sensitive SK-N-MC cells, which is targeted to nonsense-mediated decay (NMD), causing its downregulation. …”
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    Genotoxic stress inhibits Ewing sarcoma cell growth by modulating alternative pre-mRNA processing of the RNA helicase DHX9
  11. 2051
    “…Nonsense-mediated decay (NMD) is a messenger RNA quality-control pathway triggered by SMG1-mediated phosphorylation of the NMD factor UPF1. …”
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    The RNA helicase DHX34 functions as a scaffold for SMG1-mediated UPF1 phosphorylation
  12. 2052
    “…The ablation of RBM4a led to increases in the PTBP1, PTBP2 (nPTB), and Nova1 proteins, whereas elevated RBM4a reduced the expression of PTBP1 and PTBP2 proteins in brown adipocytes through an alternative splicing-coupled nonsense-mediated decay mechanism. Subsequently, RBM4a indirectly shortened the half-life of the Nova1 transcript which was comparatively stable in the presence of PTBP2. …”
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    RBM4a-regulated splicing cascade modulates the differentiation and metabolic activities of brown adipocytes
  13. 2053
    “…We discovered 159 somatic missense and ten nonsense mutations distributed among 167 genes. The most frequent 50 somatic mutations identified by WES were selected for validation using Sequenom MassARRAY system in the eleven breast cancer patients and an additional 433 tumor and 921 normal tissue/blood samples from the Shanghai Breast Cancer Study. …”
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    Whole-Exome Sequencing Identifies Novel Somatic Mutations in Chinese Breast Cancer Patients
  14. 2054
    por Oltrogge, Luke M., Boxer, Steven G.
    Publicado 2015
    “…Through the use of noncanonical amino acids introduced through nonsense suppression or global incorporation, we systematically modify the acidity of the GFP chromophore with halogen substituents. …”
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    Short Hydrogen Bonds and Proton Delocalization in Green Fluorescent Protein (GFP)
  15. 2055
    “…In family 1, a previously reported nonsense mutation (G-to-A; p.W751X) was identified in exon 5 of the AR gene. …”
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    Mutational analysis of the androgen receptor gene in two Chinese families with complete androgen insensitivity syndrome
  16. 2056
    “…Here we describe analysis of HSV-1 mutant viruses, providing strong genetic evidence that HSV-infected cell protein 0 (ICP0) is expressed during establishment and/or maintenance of latent infection in murine sensory neurons in vivo. Studies of an ICP0 nonsense mutant virus showed that ICP0 promotes heterochromatin and latent and lytic transcription, arguing that ICP0 is expressed and functional. …”
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    A Herpesviral Lytic Protein Regulates the Structure of Latent Viral Chromatin
  17. 2057
    “…The majority of EA2 mutations reported so far are nonsense or deletion/insertion mutations predicted to form truncated proteins. …”
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    A Ca(V)2.1 N-terminal fragment relieves the dominant-negative inhibition by an Episodic ataxia 2 mutant
  18. 2058
    por Zafrir, Zohar, Zur, Hadas, Tuller, Tamir
    Publicado 2016
    “…We also discuss the potential relation of the reported signals to efficient nonsense-mediated decay due to splicing errors. These new discoveries are supported by population-genetics considerations. …”
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    Selection for reduced translation costs at the intronic 5′ end in fungi
  19. 2059
    “…CASE REPORT: We report two siblings from the fourth family reported to have diabetes mellitus as a result of a TRMT10A mutation. A homozygous nonsense mutation p.Glu27Ter in TRMT10A was identified using targeted next‐generation sequencing and confirmed by PCR/Sanger sequencing. …”
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    tRNA methyltransferase homologue gene TRMT10A mutation in young adult‐onset diabetes with intellectual disability, microcephaly and epilepsy
  20. 2060
    “…One variant was a homozygous nonsense variant in the inhibitory subunit of the cone-specific cGMP phosphodiesterase gene, PDE6H:c.35C>G (p.Ser12*). …”
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    Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
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