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Mostrando 121 - 140 Resultados de 4,546 Para Buscar '"nonsense"', tiempo de consulta: 0.21s Limitar resultados
  1. 121
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    Diazoxide-unresponsive congenital hyperinsulinism associated with ABCC8 nonsense mutation
  2. 122
    “…Nonsense-mediated mRNA decay (NMD) is a cellular quality-control mechanism that is thought to exacerbate the phenotype of certain pathogenic nonsense mutations by preventing the expression of semi-functional proteins. …”
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    Antisense-oligonucleotide-directed inhibition of nonsense-mediated mRNA decay
  3. 123
    por Shahbazi, Shirin
    Publicado 2016
    “…MATERIALS AND METHODS: A relevant literature search of PubMed was performed using the keywords coagulation factors, Nonsense-mediated mRNA decay and premature translation termination codons. …”
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    Nonsense-mediated mRNA decay among coagulation factor genes
  4. 124
    “…PTC-containing transcripts can be degraded by an mRNA surveillance pathway termed nonsense-mediated mRNA decay (NMD). However, the efficiency of NMD varies; it is inefficient when a PTC is located downstream of the last exon junction complex (EJC). …”
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    The rules and impact of nonsense-mediated mRNA decay in human cancers
  5. 125
    “…Here, we combine genomic, proteomic, and biochemical data to demonstrate that many common nonsense variants do not ablate protein production from their host genes. …”
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    Translational plasticity facilitates the accumulation of nonsense genetic variants in the human population
  6. 126
    “…As expected, mutational analysis revealed a nonsense mutation (p.Ser122(*)) in the PAX6 gene. Thus, our findings reiterate the importance of PAX6 mutations in congenital aniridia.…”
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    A nonsense PAX6 mutation in a family with congenital aniridia
  7. 127
    “…Nonsense-mediated mRNA decay (NMD), a cellular RNA turnover pathway targeting RNAs with features resulting in aberrant translation termination, has recently been found to restrict the replication of positive-stranded RNA ((+)RNA) viruses. …”
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    Virus Escape and Manipulation of Cellular Nonsense-Mediated mRNA Decay
  8. 128
    “…Nonsense-mediated RNA decay (NMD) was originally discovered as a cellular surveillance pathway that safeguards the quality of mRNA transcripts in eukaryotic cells. …”
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    Control of gene expression through the nonsense-mediated RNA decay pathway
  9. 129
    por Lejeune, Fabrice
    Publicado 2017
    “…Nonsense-mediated mRNA decay (NMD) is a surveillance mechanism ensuring the fast decay of mRNAs harboring a premature termination codon (PTC). …”
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    Nonsense-mediated mRNA decay at the crossroads of many cellular pathways
  10. 130
    “…BACKGROUND: Inhibition of nonsense-mediated mRNA decay (NMD) in tumor cells can suppress tumor growth through expressing new antigens whose mRNAs otherwise are degraded by NMD. …”
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    Assessing the activity of nonsense-mediated mRNA decay in lung cancer
  11. 131
    “…Whole exome sequencing identified 55 rare somatic mutations among three insulinoma patients, including MEN1 gene nonsense mutations (c. 681C>G; p.Tyr227* in exon 4 of MEN1 and c. 346G>T; p.Glu116* in exon 2 of MEN1) in two different tumor samples. …”
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    Two nonsense somatic mutations in MEN1 identified in sporadic insulinomas
  12. 132
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    Novel hemizygous nonsense mutation in DRP2 is associated with inherited neuropathy
  13. 133
    “…The nonsense mediated RNA decay (NMD) pathway safeguards the integrity of the transcriptome by targeting mRNAs with premature translation termination codons (PTCs) for degradation. …”
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    Compound C inhibits nonsense-mediated RNA decay independently of AMPK
  14. 134
    “…We applied stepwise multiple linear regression to predict the number of mutations per gene. Because missense, nonsense, and frameshift mutations are associated with different sets of gene characteristics, they were modeled separately. …”
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    Gene characteristics predicting missense, nonsense and frameshift mutations in tumor samples
  15. 135
    “…After a brief introduction on nonsense mutations and their pathological effects, the features of various classes of TRIDs will be described discussing differences or similarities in their mechanisms of action. …”
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    Strategies against Nonsense: Oxadiazoles as Translational Readthrough-Inducing Drugs (TRIDs)
  16. 136
    “…CONCLUSION: Our results show that a biallelic nonsense variant of MLH3 underlies a novel syndrome with susceptibility to classical or attenuated adenomatous polyposis and possibly extracolonic tumors, including breast cancer.…”
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    Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition
  17. 137
    “…Therefore, an approach that targets nonsense mutations could be a promising pharmacogenetic strategy for the treatment of IRDs. …”
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    Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations
  18. 138
    Publicado 1988
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    Suppression of nonsense codon or frameshift mutation especially useful in vaccine production
  19. 139
    “…Nonsense-mediated messenger RNA (mRNA) decay (NMD) is a surveillance pathway used by cells to control the quality mRNAs and to fine-tune transcript abundance. …”
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    Nonsense-Mediated mRNA Decay: Pathologies and the Potential for Novel Therapeutics
  20. 140
    “…Although fs-indels are degraded through the nonsense-mediated decay (NMD) pathway, we hypothesise that some fs-indels escape degradation and elicit anti-tumor immune responses. …”
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    Escape from nonsense-mediated decay associates with anti-tumor immunogenicity
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