Mostrando 201 - 220 Resultados de 4,546 Para Buscar '"nonsense"', tiempo de consulta: 0.19s Limitar resultados
  1. 201
    “…Typically, PTCs induce a transcript’s degradation by nonsense-mediated mRNA decay (NMD) and render such changes loss-of-function alleles. …”
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  2. 202
    “…A trio whole genome sequencing analysis of the index female and her unaffected parents identified a de novo heterozygous nonsense variant in the coding region of the PKD1 gene. …”
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  3. 203
    “…Furthermore, given the fact that PE installs prime editing guide RNA–templated mutations, we introduce a unique strategy for precise genetic rescue of PE-STOP-dependent nonsense mutation via the same PE platform. Altogether, the present work demonstrates a versatile and specific tool for gene inactivation and for functional interrogation of nonsense mutations.…”
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  4. 204
    “…Over 35% RTT patients carry nonsense mutation in MECP2, making it a suitable candidate disease for nonsense suppression therapy. …”
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  5. 205
  6. 206
    “…Nonsense-mediated mRNA decay (NMD) is a eukaryotic RNA decay pathway with roles in cellular stress responses, differentiation, and viral defense. …”
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  7. 207
    “…Typically, PTCs induce transcript degradation by nonsense-mediated mRNA decay (NMD) and render such changes loss-of-function alleles. …”
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  8. 208
    “…Aberrant mRNAs whose open reading frame (ORF) is truncated by the presence of a premature translation-termination codon (PTC) are recognized and degraded in eukaryotic cells by a process called nonsense-mediated mRNA decay (NMD). Here, we report the development of a reporter system that allows monitoring of NMD in mammalian cells by measuring the fluorescence of green fluorescent protein (GFP). …”
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  9. 209
    “…Furthermore, TPO biosynthesis is limited by upstream open reading frames (uORFs) that curtail the translation of the TPO mRNA. uORFs are suggested to activate RNA degradation by nonsense-mediated decay (NMD) in a number of physiological transcripts. …”
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  10. 210
    “…Nonsense-mediated mRNA decay (NMD) is a eukaryotic mechanism of RNA surveillance that selectively eliminates aberrant transcripts coding for potentially deleterious proteins. …”
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  11. 211
    “…CONCLUSIONS: This study has identified a novel nonsense mutation in CRYBB1 (p.Q223X) associated with autosomal dominant congenital nuclear cataract.…”
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  13. 213
    “…Mutation screening of the NDP gene identified a novel nonsense mutation, c.343C>T, in this region. CONCLUSIONS: Although recent research has shown that multiple different mutations can be responsible for the ND phenotype, additional research is needed to understand the mechanism responsible for the diverse phenotypes caused by mutations in the NDP gene.…”
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  14. 214
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  16. 216
    “…BACKGROUND: Nonsense-Mediated decay (NMD) selectively degrades mRNA transcripts that carry premature stop codons. …”
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  17. 217
    “…Nonsense-mediated decay is a key RNA surveillance mechanism responsible for the rapid degradation of mRNAs containing premature termination codons and hence prevents the synthesis of truncated proteins. …”
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  18. 218
    “…Nonsense-mediated mRNA decay (NMD) downmodulates mRNAs that have in-frame premature termination codons and prevents translation of potentially harmful truncated proteins from aberrant mRNAs. …”
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  19. 219
  20. 220
    “…Nonsense-mediated mRNA decay (NMD) is a translation-dependent RNA quality-control pathway targeting transcripts such as messenger RNAs harboring premature stop-codons or short upstream open reading frame (uORFs). …”
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