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Mostrando 421 - 440 Resultados de 4,546 Para Buscar '"nonsense"', tiempo de consulta: 0.33s Limitar resultados
  1. 421
    “…Skipping of exon 65 and escaping nonsense-mediated decay followed by frameshift were experimentally confirmed in the proband’s mRNA.…”
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    A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay
  2. 422
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    Correction: Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder
  3. 423
    “…However, the role of evolutionary drivers such as codon selection, negative/purifying selection, APOBEC editing, and genetic variations such as frameshift and in-frame nonsense mutations in the LSDVs, which cause outbreaks in cattle in various countries, are still largely unknown. …”
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    Sign of APOBEC editing, purifying selection, frameshift, and in-frame nonsense mutations in the microevolution of lumpy skin disease virus
  4. 424
    “…Nonsense-mediated mRNA decay (NMD) is a eukaryotic quality control mechanism that identifies and eliminates aberrant mRNAs containing a premature termination codon (PTC). …”
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    Both introns and long 3′-UTRs operate as cis-acting elements to trigger nonsense-mediated decay in plants
  5. 425
    “…Nonsense-mediated mRNA Decay (NMD) degrades mutant mRNAs containing premature termination codon (PTC-mRNAs). …”
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    Nonsense-Mediated mRNA Decay Impacts MSI-Driven Carcinogenesis and Anti-Tumor Immunity in Colorectal Cancers
  6. 426
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    A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family
  7. 427
    “…Not all alternative splicing results in functional protein; it can also yield mRNA isoforms with premature stop codons that are degraded by the nonsense-mediated mRNA decay (NMD) pathway. This coupling of alternative splicing and NMD provides a mechanism for gene regulation that is highly conserved in mammals. …”
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    Genome-Wide Identification of Alternative Splice Forms Down-Regulated by Nonsense-Mediated mRNA Decay in Drosophila
  8. 428
    “…Previous analysis of data from the International HapMap Project indicated that a CD36 haplotype bearing a nonsense mutation (T1264G; rs3211938) had undergone recent positive selection in the Yoruba of Nigeria. …”
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    Positive selection of a CD36 nonsense variant in sub-Saharan Africa, but no association with severe malaria phenotypes
  9. 429
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    Absence of heartbeat in the Xenopus tropicalis mutation muzak is caused by a nonsense mutation in cardiac myosin myh6
  10. 430
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    The nonsense allele oblivious reveals a sensor of di-acylglycerides acting in conjunction with TLR2 and TLR6
  11. 431
    “…Here we report one novel homozygous nonsense mutation of EYS in a consanguineous Chinese arRP family. …”
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    Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa
  12. 432
    “…We found that ERAP2 expressed from Haplotype B undergoes differential splicing and encodes a truncated protein, leading to nonsense-mediated decay of the mRNA. To investigate the consequences of ERAP2 deficiency on MHC presentation, we correlated surface MHC class I expression with ERAP2 genotypes in primary lymphocytes. …”
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    Balancing Selection Maintains a Form of ERAP2 that Undergoes Nonsense-Mediated Decay and Affects Antigen Presentation
  13. 433
    “…SMG1C mediated phosphorylation of Upf1 triggers nonsense-mediated mRNA decay (NMD), a eukaryotic surveillance pathway that detects and targets for degradation mRNAs harboring premature translation termination codons. …”
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    Characterization of SMG-9, an essential component of the nonsense-mediated mRNA decay SMG1C complex
  14. 434
    “…In this study, we carried out in-depth statistical analysis on a very large set of nonsense mutations to decipher the elements of nucleotide context responsible for modulating readthrough levels and gentamicin response. …”
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    Statistical Analysis of Readthrough Levels for Nonsense Mutations in Mammalian Cells Reveals a Major Determinant of Response to Gentamicin
  15. 435
    “…Nonsense-mediated RNA decay (NMD) is an evolutionarily conserved RNA quality control mechanism that eliminates transcripts containing nonsense mutations. …”
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    Aberrant growth and lethality of Arabidopsis deficient in nonsense-mediated RNA decay factors is caused by autoimmune-like response
  16. 436
    por Filichkin, Sergei A, Mockler, Todd C
    Publicado 2012
    “…The conservation of AS events and modulation of the relative abundance of nonsense isoforms by environmental and diurnal conditions suggests possible regulatory roles for these alternatively spliced transcripts in circadian clock function. …”
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    Unproductive alternative splicing and nonsense mRNAs: A widespread phenomenon among plant circadian clock genes
  17. 437
    “…PURPOSE: To report the identification of a nonsense mutation in γC-crystallin (CRYGC) associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese family. …”
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    A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree
  18. 438
    “…RESULTS: A novel homozygous nonsense mutation in exon 4 of the RP1 gene, c.1012C>T (p.R338*), was identified in the proband and her two affected sisters. …”
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    Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family
  19. 439
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    Gene-based treatment options for Usher type 1C by translational read-through of a nonsense mutation
  20. 440
    “…Molecular analyses identified a homozygous nonsense mutation c.697C > T (p.Gln233*) as the cause of the disease in all families. …”
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    Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia
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