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Mostrando 161 - 180 Resultados de 4,546 Para Buscar '"nonsense"', tiempo de consulta: 1.04s Limitar resultados
  1. 161
    “…BACKGROUND: The Nonsense-Mediated mRNA Decay (NMD) pathway detects and degrades mRNAs containing premature termination codons, thereby preventing the accumulation of potentially detrimental truncated proteins. …”
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    Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues
  2. 162
    “…Functional analysis revealed that inclusion of exon 2a leads to nonsense-mediated RNA decay altering SHOX expression in a tissue and time specific manner. …”
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    Alternative Splicing and Nonsense-Mediated RNA Decay Contribute to the Regulation of SHOX Expression
  3. 163
    por Schmid, Pirmin, Flegel, Willy A
    Publicado 2011
    “…METHODS: We developed an event based model to calculate the risk of acquiring nonsense mutations in coding sequences. Complete coding sequences and genomes of 40 eukaryotes were analyzed for GC and CpG content, codon usage, and the associated risk of acquiring nonsense mutations. …”
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    Codon usage in vertebrates is associated with a low risk of acquiring nonsense mutations
  4. 164
    “…Suppression was due to loss of nonsense mediated decay (NMD) since deletion of any one of the three NMD surveillance components (upf1/nam7, upf2/nmd2, or upf3) mediated the effect. …”
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    Loss of nonsense mediated decay suppresses mutations in Saccharomyces cerevisiae TRA1
  5. 165
    “…RESULTS: Sequencing of the SAG and GRK1 resulted in identifying a novel homozygous nonsense mutation (c.916G>T; p.Glu306*) in SAG, which in unaffected siblings either was present in a heterozygous state or absent. …”
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    A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease
  6. 166
    por Karijolich, John, Yu, Yi-Tao
    Publicado 2011
    “…All three translation termination codons, or nonsense codons, contain a uridine residue at the first position of the codon(1–3). …”
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    Modifying the genetic code: Converting nonsense codons into sense codons by targeted pseudouridylation
  7. 167
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    Nonsense-mediated mRNA decay inhibition by HTLV-1 Tax protein
  8. 168
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    Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ()
  9. 169
    por Wilusz, Jeremy E., Wilusz, Jeffrey
    Publicado 2014
    “…For the case of small nucleolar RNAs (snoRNAs) encoded within introns of mRNA genes, Lykke-Andersen and colleagues (pp. 2498–2517) demonstrated that alternative splicing and the SMG6 endonuclease of the nonsense-mediated RNA decay pathway are key regulators that control which RNAs accumulate.…”
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    Nonsense-mediated RNA decay: at the ‘cutting edge’ of regulated snoRNA production
  10. 170
    “…Nonsense-mediated RNA decay (NMD) is an RNA-based quality control mechanism that eliminates transcripts bearing premature translation termination codons (PTC). …”
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    5-azacytidine inhibits nonsense-mediated decay in a MYC-dependent fashion
  11. 171
    “…Direct sequencing analysis of HOXD13 gene revealed a nonsense mutation, designated Q248X. All affected individuals with the severe SPD phenotype are homozygous for the mutation, while those with the mild SPD phenotype are heterozygous for the mutation. …”
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    A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance
  12. 172
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    Intertwining extracorporeal membrane oxygenation and continuous renal replacement therapy: sense or nonsense?
  13. 173
    “…The nonsense-mediated mRNA decay (NMD) pathway serves an important role in gene expression by targeting aberrant mRNAs that have acquired premature termination codons (PTCs) as well as a subset of normally processed endogenous mRNAs. …”
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    Identification of elements in human long 3′ UTRs that inhibit nonsense-mediated decay
  14. 174
    “…This compound was found to have good activity as an inhibitor of nonsense-mediated mRNA decay.…”
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    Synthesis and activity of a novel inhibitor of nonsense-mediated mRNA decay
  15. 175
    “…The nonsense-mediated mRNA decay (NMD) pathway functions to degrade both abnormal and wild-type mRNAs. …”
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    Degradation of Gadd45 mRNA by nonsense-mediated decay is essential for viability
  16. 176
    “…Nonsense-mediated RNA decay (NMD) is a highly conserved pathway that selectively degrades specific subsets of RNA transcripts. …”
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    Nonsense-Mediated RNA Decay Influences Human Embryonic Stem Cell Fate
  17. 177
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    Variable phenotypic expression of nonsense mutation p.Thr5* in the APOE gene
  18. 178
    “…Whole exome sequencing in the patient revealed a novel nonsense (stop gain) homozygous mutation in KIAA1279 gene (KIAA1279: NM_015634:exon6:c.C976T:p.Q326X). …”
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    Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome
  19. 179
    “…About 10% of patients with a genetic disease carry a nonsense mutation causing their pathology. A strategy for correcting nonsense mutations is premature termination codon (PTC) readthrough, i.e. incorporation of an amino acid at the PTC position during translation. …”
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    Optimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases
  20. 180
    “…BACKGROUND: Nonsense mutations in the dystrophin gene usually result in a severe Duchenne muscular dystrophy phenotype. …”
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    Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype
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