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  1. 941
    Libro
    Pros y contras de Mac Luhan
  2. 942
    por Cullingford, Alison
    Publicado 2017
    “…This comprehensive and no-nonsense guide to working with special collections and rare books is an essential day-to-day companion.…”
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    The special collections handbook
  3. 943
    por Ogata, Tsutomu, Fukami, Maki, Wada, Yuka
    Publicado 2008
    “…This is primarily based on the identification of nonsense mutations (E124X, Q197X, and R653X), which undergo nonsense mediated mRNA decay, in patients with penoscrotal hypospadias. …”
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    Online Artículo Texto
    MAMLD1 (CXorf6) is a New Gene for Hypospadias
  4. 944
    por Shelby, Myeshia V.
    Publicado 2017
    “…Through a combination of in silico research and reviews of previous work, mechanisms by which nonsense-mediated mRNA decay (NMD) affects the inheritance and expressivity of Waardenburg syndrome is realized. …”
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    Online Artículo Texto
    Waardenburg Syndrome Expression and Penetrance
  5. 945
    “…Most of them are missense/nonsense substitutions; six missense and 11 nonsense mutations. …”
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    Online Artículo Texto
    Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series
  6. 946
    por Ruse, Michael
    Publicado 1989
    Libro
    Sociobiología
  7. 947
    por Kirkpatrick, Donald L.
    Publicado 2001
    Libro
    Claves para una comunicación eficaz /
  8. 948
    por Pauli, Wolfgang
    Publicado 2001
    “…Pauli thinks that Heisenberg's letter of the 19th November contains terrible nonsense.…”
    Enlace del recurso
    Pauli letter collection: postcard to Werner Heisenberg
  9. 949
    “…These results suggest that radiation-induced Unidentified tumors arise mainly due to decreased Apc expression of an unknown regulatory mechanism that does not depend on promoter hypermethylation, and that some tumors may result from nonsense mutations which are as-yet undefined point mutations.…”
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    Online Artículo Texto
    Newly discovered genomic mutation patterns in radiation-induced small intestinal tumors of Apc(Min/+) mice
  10. 950
    “…The screen for mutations which are lethal in combination with the SUP35-C allele encoding eRF3C revealed the sup45 mutations which alter the N-terminal domain of eRF1 and increase nonsense codon readthrough. However, further analysis showed that synthetic lethality was not caused by the increased levels of nonsense codon readthrough. …”
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    Texto
    N-terminal region of Saccharomyces cerevisiae eRF3 is essential for the functioning of the eRF1/eRF3 complex beyond translation termination
  11. 951
    “…In spite of the presence of an inefficient intron 22 3′ splice site containing the rare GAG triplet, the mdx mutation does not activate nonsense-associated altered splicing (NAS), but induces exclusively nonsense-mediated mRNA decay (NMD). …”
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    Texto
    Interplay between Exonic Splicing Enhancers, mRNA Processing, and mRNA Surveillance in the Dystrophic Mdx Mouse
  12. 952
    “…While eRF1 recognizes nonsense codons, eRF3 facilitates polypeptide chain release from the ribosome in a GTP-dependent manner. …”
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    Texto
    Elongation factor eEF1B modulates functions of the release factors eRF1 and eRF3 and the efficiency of translation termination in yeast
  13. 953
    “…BACKGROUND: Leukocyte adhesion deficiency 1 (LAD1) is an inherited disorder of neutrophil function. Nonsense mutations in the affected CD18 (ITB2) gene have rarely been described. …”
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    Texto
    The Effect of Gentamicin-Induced Readthrough on a Novel Premature Termination Codon of CD18 Leukocyte Adhesion Deficiency Patients
  14. 954
    “…All others were homozygous, with three bearing a nonsense mutation c.156C>A (p.C52*) in exon 2, three a missense mutation c.233G>A (p.C78Y) in exon 2, five a missense mutation c.1010G>A (p.C337Y) in exon 5, one a nonsense mutation c.348C>A (p.Y116*) in exon 3, and one with a novel deletion mutation c.593_597delATAGA (p.Y198*) in exon 4. …”
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    Online Artículo Texto
    WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198*
  15. 955
    “…RP2 patients frequently present with nonsense mutations and no treatments are currently available to restore RP2 function. …”
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    Online Artículo Texto
    Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells
  16. 956
    “…The majority of deleterious mutations are frameshift or nonsense mutations. Most of the reported BRCA2 mutations are protein truncating mutations. …”
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    Online Artículo Texto
    Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer
  17. 957
    “…We further show that the nonsense allele is targeted to the nonsense-mediated decay (NMD) pathway, but in an isoform-specific manner, with the nuclear-retained 65K long-3′UTR isoform escaping the NMD pathway. …”
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    Online Artículo Texto
    Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA
  18. 958
    “…The stability and quality of metazoan mRNAs are under microRNA (miRNA)-mediated and nonsense-mediated control. Although UPF1, a core mediator of nonsense-mediated mRNA decay (NMD), mediates the decay of target mRNA in a 3′UTR-length-dependent manner, the detailed mechanism remains unclear. …”
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    Online Artículo Texto
    UPF1/SMG7-dependent microRNA-mediated gene regulation
  19. 959
    “…HHT1 was caused by a novel c.816+1G>A splice donor variant, a novel c.1479C>A nonsense (p.Cys493X) variant and a published c.1306C>T nonsense (p.Gln436X) variant in ENG. …”
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    Online Artículo Texto
    Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort
  20. 960
    “…Engineered nucleases are widely used for creating frameshift or nonsense mutations in the target genes to eliminate gene functions. …”
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    Online Artículo Texto
    The position of the target site for engineered nucleases improves the aberrant mRNA clearance in in vivo genome editing
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