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Mostrando 461 - 480 Resultados de 4,546 Para Buscar '"nonsense"', tiempo de consulta: 0.17s Limitar resultados
  1. 461
    por Fatscher, Tobias, Gehring, Niels H.
    Publicado 2016
    “…Nonsense-mediated mRNA decay (NMD) is a cellular process that eliminates messenger RNA (mRNA) substrates with premature translation termination codons (PTCs). …”
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    Harnessing short poly(A)-binding protein-interacting peptides for the suppression of nonsense-mediated mRNA decay
  2. 462
    “…In this study, we describe a pathogenic nonsense mutation located in POU4F3 in a four-generation Chinese family. …”
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    A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss
  3. 463
    “…The nonsense mediated decay (NMD) pathway is a critical surveillance mechanism for identifying aberrant mRNA transcripts. …”
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    RNA sequencing of synaptic and cytoplasmic Upf1-bound transcripts supports contribution of nonsense-mediated decay to epileptogenesis
  4. 464
    “…We previously reported two rare, non-linked, nonsense variants in SLC13A1 (R12X and W48X) associated with hyposulfatemia (P = 9 × 10(− 20)). …”
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    Sex-specific effects of serum sulfate level and SLC13A1 nonsense variants on DHEA homeostasis
  5. 465
    “…By analyzing tumor biopsy mRNA from CRPC patients who had developed resistance to CYP17 inhibitor treatment, we have identified a novel nonsense mutation (Q784*) at the ligand binding domain (LBD) of AR, which produces a C-terminal truncated AR protein that lacks intact LBD. …”
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    A novel nonsense mutation in androgen receptor confers resistance to CYP17 inhibitor treatment in prostate cancer
  6. 466
    “…Here, we present evidence that this remarkable skewing is caused by the degradation of a selectable-marker mRNA used for poly-A trapping via an mRNA-surveillance mechanism, nonsense-mediated mRNA decay (NMD). We also report the development of a novel poly-A-trap strategy, UPATrap, which suppresses NMD of the selectable-marker mRNA and permits the trapping of transcriptionally silent genes without a bias in the vector-integration site. …”
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    Suppression of nonsense-mediated mRNA decay permits unbiased gene trapping in mouse embryonic stem cells
  7. 467
    “…Alternative splicing (AS) coupled to nonsense-mediated decay (AS-NMD) is a conserved mechanism for post-transcriptional gene regulation. …”
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    Differential alternative splicing coupled to nonsense-mediated decay of mRNA ensures dietary restriction-induced longevity
  8. 468
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    A Case of Hailey-Hailey Disease with a Novel Nonsense Mutation in the ATP2C1 Gene
  9. 469
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    The rare nonsense mutation in p53 triggers alternative splicing to produce a protein capable of inducing apoptosis
  10. 470
    por Cowen, Lauren E., Tang, Yi
    Publicado 2017
    “…Using gene targeting and RNAi, we showed that depletion of the nonsense-mediated mRNA decay (NMD) factor SMG7 or UPF1 significantly induced p53β but had minimal effect on p53γ. …”
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    Identification of nonsense-mediated mRNA decay pathway as a critical regulator of p53 isoform β
  11. 471
    “…This may have implications for future cancer therapy based on reactivation of nonsense mutant TP53.…”
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    Synergistic Rescue of Nonsense Mutant Tumor Suppressor p53 by Combination Treatment with Aminoglycosides and Mdm2 Inhibitors
  12. 472
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    Nonsensing residues in S3–S4 linker’s C terminus affect the voltage sensor set point in K(+) channels
  13. 473
    “…In this case series, we report for the first time a family in which the inherited nonsense mutation [c. 3946C > T (p.Arg1316*)] in the SCN5A gene segregates in association with Brugada syndrome (BrS). …”
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    SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis
  14. 474
    por Chu, Duan, Wei, Lai
    Publicado 2019
    “…BACKGROUND: Nonsynonymous mutations change the protein sequences and are frequently subjected to natural selection. The same goes for nonsense mutations that introduce pre-mature stop codons into CDSs (coding sequences). …”
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    Nonsynonymous, synonymous and nonsense mutations in human cancer-related genes undergo stronger purifying selections than expectation
  15. 475
    “…However, the role of mRNA surveillance via the nonsense-mediated mRNA decay (NMD) pathway in circadian rhythms remains elusive. …”
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    Drosophila CrebB is a Substrate of the Nonsense-Mediated mRNA Decay Pathway that Sustains Circadian Behaviors
  16. 476
    “…Nonsense-mediated decay (NMD) is a eukaryotic mRNA surveillance system that selectively degrades transcripts with premature termination codons (PTC). …”
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    Integrative transcriptomic analysis suggests new autoregulatory splicing events coupled with nonsense-mediated mRNA decay
  17. 477
    “…Here, we describe a human case with a homozygous nonsense R688* RC3H1 mutation suffering from hyperinflammation, presenting as relapsing HLH. …”
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    A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation
  18. 478
    “…The importance of the local sequence context in determining how efficiently aminoglycosides rescue nonsense mutations has been established previously in disease models. …”
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    Stop codons and the +4 nucleotide may influence the efficiency of G418 in rescuing nonsense mutations of the HERG gene
  19. 479
    “…Horseshoe kidney was present in this patient, which is also atypical in BFLS. A heterozygous nonsense mutation c.673C>T (p.R225X) of PHF6 gene was identified in the patient, inherited from her unaffected mother. …”
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    A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome
  20. 480
    “…RESULTS: We reported a female patient with classical symptoms of WWS and discovered a novel nonsense heterozygous mutation (p.R67X; c.199C>T) in ZC4H2 gene in the patient but not in her parents. …”
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    A novel de novo nonsense mutation in ZC4H2 causes Wieacker‐Wolff Syndrome
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