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Mostrando 361 - 380 Resultados de 4,546 Para Buscar '"nonsense"', tiempo de consulta: 0.44s Limitar resultados
  1. 361
    “…Sequencing of KRT10 demonstrated a nonsense mutation (p.Tyr282Ter.) corresponding to the 1B domain of the protein in patients and a heterozygous pattern in other family members, resulting in complete absence of K10. …”
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    A novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis
  2. 362
    “…Notably, the RNA splice variants of TIMING OF CAB EXPRESSION 1 (TOC1) and ELF3 were degraded through the nonsense-mediated decay (NMD) pathway, whereas those of other clock genes were insensitive to NMD. …”
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    Alternative splicing and nonsense-mediated decay of circadian clock genes under environmental stress conditions in Arabidopsis
  3. 363
    por Seyedali, Ali, Berry, Marla J.
    Publicado 2014
    “…Since UGA also serves as a stop codon, it has been postulated that selenoprotein mRNAs are targeted for degradation by the nonsense-mediated mRNA decay pathway (NMD). Several reports have observed a hierarchy of selenoprotein mRNA expression when selenium (Se) is limiting, whereby the abundance of certain transcripts decline while others do not. …”
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    Nonsense-mediated decay factors are involved in the regulation of selenoprotein mRNA levels during selenium deficiency
  4. 364
    “…Analysis of the sequencing data revealed a nonsense mutation (p.W215X) in a phospholipase encoding gene (PLD4) as candidate causal polymorphism. …”
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    A nonsense mutation in PLD4 is associated with a zinc deficiency-like syndrome in Fleckvieh cattle
  5. 365
    “…Eukaryotic RNAs with premature termination codons (PTCs) are eliminated by nonsense-mediated decay (NMD). While human nonsense RNA degradation can be initiated either by an endonucleolytic cleavage event near the PTC or through decapping, the individual contribution of these activities on endogenous substrates has remained unresolved. …”
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    Human nonsense-mediated RNA decay initiates widely by endonucleolysis and targets snoRNA host genes
  6. 366
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    Viewpoint: a response to “Screening and isolation to control methicillin-resistant Staphylococcus aureus: sense, nonsense, and evidence”
  7. 367
    “…We report that DUX4-triggered proteolytic degradation of UPF1, a central component of the nonsense-mediated decay (NMD) machinery, is associated with profound NMD inhibition, resulting in global accumulation of RNAs normally degraded as NMD substrates. …”
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    A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy
  8. 368
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    HTLV Tax repress nonsense mediated mRNA decay by inhibiting the ATPase activity of UPF1
  9. 369
    “…Genetic screening revealed a novel homozygous nonsense mutation in the BMP9 gene (c.76C > T; p.Gln26Ter). …”
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    Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension: a case report
  10. 370
    “…Linkage analysis and whole exome sequencing revealed a homozygous nonsense mutation in the ERCC6L2 gene. We identified a new ERCC6L2 alternative transcript encoding the DNA repair factor Hebo, which is critical for complementation of the patient’s DNAdsb repair defect. …”
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    A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly
  11. 371
    “…Sanger sequencing analysis of the NOG gene in the family members revealed a novel heterozygous nonsense mutation (c.397A>T; p.K133*). In the family, the prevalence of dactylosymphysis and hyperopia was 100% while that of stapes ankylosis was less than 100%. …”
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    A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder
  12. 372
    “…ATM expression is limited by a tightly regulated nonsense-mediated RNA decay (NMD) switch exon (termed NSE) located in intron 28. …”
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    Antisense Oligonucleotides Modulating Activation of a Nonsense-Mediated RNA Decay Switch Exon in the ATM Gene
  13. 373
    “…The analysis of whole-genome re-sequencing data of one diseased calf, three obligate mutation carriers and 1682 healthy animals from various bovine breeds revealed a nonsense mutation (rs876174537, p.Arg1588X) in the COL7A1 gene that segregates with the disease. …”
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    A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle
  14. 374
    “…This led to the identification of a homozygous nonsense variant, c.963C>A p.(Cys321*) in GNAT1, which was confirmed by Sanger sequencing. …”
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    Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy
  15. 375
    “…This mutation leads to loss of function of the encoded protein that might also result in transcriptional downregulation of Ans gene as a secondary effect, i.e., nonsense-mediated mRNA decay. Further, this mutation results in loss of visible and detectable anthocyanin pigments. …”
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    Nonsense Mutation Inside Anthocyanidin Synthase Gene Controls Pigmentation in Yellow Raspberry (Rubus idaeus L.)
  16. 376
    “…Mutational analysis has revealed that both are homozygous for a novel nonsense mutation in PANK2 gene (c.T936A (p.C312X)). …”
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    A Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration
  17. 377
    “…Nonsense mutations in CLN2 disease are frequent, the most common being CLN2(R208X). …”
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    A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies
  18. 378
    “…RESULTS: A homozygous nonsense mutation was identified in exon 1 of the TYR gene, with the substitution of a cytosine for a thymine nucleotide (C64T) at codon 22, leading to a premature stop codon (R22X) in the albino robust capuchin monkey. …”
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    A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella)
  19. 379
    “…Nonsense-mediated decay (NMD) eliminates transcripts with premature termination codons. …”
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    A pan-cancer genome-wide analysis reveals tumour dependencies by induction of nonsense-mediated decay
  20. 380
    “…Nonsense-mediated mRNA decay (NMD) is essential for removing premature termination codon-containing transcripts from cells. …”
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    Nonsense-mediated mRNA decay in Tetrahymena is EJC independent and requires a protozoa-specific nuclease
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