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Mostrando 261 - 280 Resultados de 4,546 Para Buscar '"nonsense"', tiempo de consulta: 0.21s Limitar resultados
  1. 261
    por Daniel, Carter A
    Publicado 2012
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    Reader-friendly reports: a no-nonsense guide to effective writing for MBAs, consultants, and other professionals
  2. 262
    por Llewellyn
    Publicado 2016
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    Commonsense leadership: no nonsense rules for improving your mental game and increasing your team's performance
  3. 263
    por Pfeffer, Jeffrey, Sutton, Robert I
    Publicado 2006
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    Hard facts, dangerous half-truths, and total nonsense: profiting from evidence-based management
  4. 264
    “…The genetic analysis performed using TruSight Cardio panel, including 174 genes related to cardiac genetic diseases, revealed a novel nonsense TTN variant (TTN:c.103591A > T, p.Lys34531*), falling within the M-band region of the titin protein. …”
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    A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy
  5. 265
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    Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy
  6. 266
    “…In this study, the authors describe a new murine model of dysferlinopathy that carries a nonsense mutation in Dysf exon 32, which has been identified in several patients with dysferlinopathy. …”
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    A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy
  7. 267
    por Sun, Bo, Chen, Liang
    Publicado 2023
    “…BACKGROUND: Nonsense-mediated mRNA decay (NMD) was originally conceived as an mRNA surveillance mechanism to prevent the production of potentially deleterious truncated proteins. …”
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    Mapping genetic variants for nonsense-mediated mRNA decay regulation across human tissues
  8. 268
    “…On analysis, a novel homozygous nonsense mutation (c.351G>A) in exon 2 of LRP5 (NM_002335) was found, predicted to change a tryptophan at 117 to a stop codon (p. …”
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    Novel Homozygous Nonsense Mutation in the LRP5 Gene in Two Siblings with Osteoporosis-pseudoglioma Syndrome
  9. 269
    “…Many transcripts are targeted by nonsense-mediated decay (NMD), leading to their degradation and the inhibition of their translation. …”
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    SUZ domain–containing proteins have multiple effects on nonsense-mediated decay target transcripts
  10. 270
    “…Variant FTH1 mRNA transcripts escape nonsense-mediated decay (NMD), and fibroblasts show elevated ferritin protein levels, markers of oxidative stress, and increased susceptibility to iron accumulation. …”
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    Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy
  11. 271
    “…Nonsense-mediated mRNA decay (NMD) is a quality control mechanism that degrades mRNAs carrying a premature termination codon. …”
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    Identifying Potent Nonsense-Mediated mRNA Decay Inhibitors with a Novel Screening System
  12. 272
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    Doing what matters in times of stress: No-nonsense meditation and occupational well-being in COVID-19
  13. 273
    “…In this study, we conducted linkage analysis to localize the stb locus within a 1.6 Mb region on mouse chromosome 2 and identified a nonsense mutation in Adamtsl2 of stb/stb mice. Histological analysis revealed disturbed endochondral ossification with a reduced hypertrophic chondrocyte layer and stiff skin with a thickened dermal layer. …”
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    A nonsense mutation in mouse Adamtsl2 causes uterine hypoplasia and an irregular estrous cycle
  14. 274
    “…Messenger RNAs containing premature stop codons are generally targeted for degradation through nonsense-mediated mRNA decay (NMD). This mechanism degrades aberrant transcripts derived from mutant genes containing nonsense or frameshift mutations. …”
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    Alternative splicing and nonsense-mediated mRNA decay regulate mammalian ribosomal gene expression
  15. 275
    “…At an early stage in eukaryotic evolution, eEF1A was duplicated, giving rise to eRF3, which was recruited for translation termination, interacting with eRF1. eRF3 evolved nonsense-mediated decay (NMD) activity either before or after it was again duplicated, giving rise to Hbs1p, which we propose was recruited to assist eDom34p in eukaryotic NGD. …”
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    Evolution of nonstop, no-go and nonsense-mediated mRNA decay and their termination factor-derived components
  16. 276
    “…PURPOSE: To report the identification of a novel nonsense mutation in CRYGC in a Chinese family with autosomal dominant congenital nuclear cataracts and microcornea. …”
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    A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea
  17. 277
    “…We utilized this framework to identify transcriptome changes in animals lacking the nonsense-mediated decay (NMD) pathway. RESULTS: We find that while the majority of detectable transcripts map to known gene structures, >5% of transcribed regions fall outside current gene annotations. …”
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    High resolution transcriptome maps for wild-type and nonsense-mediated decay-defective Caenorhabditis elegans
  18. 278
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    Hormone Replacement Therapy advertising: sense and nonsense on the web pages of the best-selling pharmaceuticals in Spain
  19. 279
    “…The candidate target region contained the transmembrane protein 126A (TMEM126A) gene, and direct sequencing identified a previously described nonsense mutation (c.163C>T; p.Arg55X). CONCLUSIONS: We describe the first detailed phenotyping of patients with autosomal recessive TMEM126A-associated optic atrophy and auditory neuropathy. …”
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    Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy
  20. 280
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    Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC
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