Materias dentro de su búsqueda.
Mostrando 1,521 - 1,540 Resultados de 4,546 Para Buscar '"nonsense"', tiempo de consulta: 0.29s Limitar resultados
  1. 1521
    por Kawakami, Takashi, Murakami, Hiroshi
    Publicado 2012
    “…In the strategies for genetic code expansion, non-proteinogenic amino acids are assigned to the nonsense codons or 4-base codons in order to add these amino acids to the universal genetic code. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Genetically Encoded Libraries of Nonstandard Peptides
  2. 1522
    “…In this study, we have screened 16 patients affected by LI and found six new mutations: two transition/transversion (R37G, V112A), two nonsense mutations and two putative splice site both leading to a premature stop codon. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis
  3. 1523
    “…RESULTS: We performed the very first genetic identification of LS families and characterized a novel mutation. The novel nonsense germline point mutation c.392C>G in the codon 131 of MLH1(S131X) was identified as the underlying genetic cause of LS in three families. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia
  4. 1524
    “…Moreover, we find that nonsense mutations on one allele result in a 50% reduction in the erythrocyte expression of this protein. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Expression Levels of the ABCG2 Multidrug Transporter in Human Erythrocytes Correspond to Pharmacologically Relevant Genetic Variations
  5. 1525
    “…Using exome sequencing in two PTD families we identified a novel causative gene, GNAL, with a nonsense p.S293X mutation resulting in premature stop codon in one family and a missense p.V137M mutation in the other. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Mutations in GNAL cause primary torsion dystonia
  6. 1526
    “…Specifically, we asked whether inter-individual synchronization of a behavior that is typically irregular in time, speech, could lead to evenly-paced or “isochronous” temporal patterns. Participants read nonsense phrases aloud with and without partners, and we found that synchronous reading resulted in greater regularity of durational intervals between words. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Social Origins of Rhythm? Synchrony and Temporal Regularity in Human Vocalization
  7. 1527
    “…Speech intelligibility was measured in listeners with extensive musical training, and in those with very little musical training or experience, using normal (voiced) or whispered (unvoiced) grammatically correct nonsense sentences in noise that was spectrally shaped to match the long-term spectrum of the speech, and was either continuous or gated with a 16-Hz square wave. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Influence of Musical Training on Understanding Voiced and Whispered Speech in Noise
  8. 1528
    “…STAU1 binding to a 3' UTR SBS was previously shown to trigger STAU1-mediated mRNA decay (SMD) by directly recruiting the ATP-dependent RNA helicase UPF1, which is also a key factor in the mechanistically related nonsense-mediated mRNA decay (NMD) pathway. In the case of a 3' UTR SBS created via mRNA–mRNA base-pairing, we show that SMD targets both mRNAs in the duplex provided that both mRNAs are translated. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    mRNA–mRNA duplexes that auto-elicit Staufen1-mediated mRNA decay
  9. 1529
    “…Somatic alterations in SETD2, including frameshift and nonsense mutations, are present at 12% in a large de novo ALL patient cohort. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Mutations in epigenetic regulators including SETD2 are gained during relapse in pediatric acute lymphoblastic leukemia
  10. 1530
    “…The Looper strain harbours a nonsense mutation (c.5690C>A, p.S1897X) within the Chd7 gene. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    CHD7 Deficiency in “Looper”, a New Mouse Model of CHARGE Syndrome, Results in Ossicle Malformation, Otosclerosis and Hearing Impairment
  11. 1531
    “…A subset is shared with other degenerative disorders. The nonsense-mediated mRNA decay (NMD) pathway plays a conserved role regulating CUG repeat RNA transcript levels and toxicity, and NMD recognition of toxic RNAs depends on 3′UTR GC nucleotide content. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Identification of genes in trinucleotide repeat RNA toxicity pathways in C. elegans
  12. 1532
    por Baboo, Sabyasachi, Cook, Peter R
    Publicado 2014
    “…Some of the nuclear synthesis is probably a byproduct of nuclear ribosomes proofreading newly-made RNA for inappropriately-placed termination codons (a process that triggers “nonsense-mediated decay”). We speculate that some “dark-matter” peptides will play other important roles in the cell.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    “Dark matter” worlds of unstable RNA and protein
  13. 1533
    “…Fearful or happy facial expressions were presented dynamically or statically in either the left or the right visual field for 20 (Experiment 1) and 30 (Experiment 2) ms. Nonsense target ideographs were then presented, and participants reported their preference for them. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Enhanced subliminal emotional responses to dynamic facial expressions
  14. 1534
    “…The EJC plays crucial post-splicing roles in export, translation, localization, and nonsense-mediated decay of mRNAs. It also aids faithful splicing of pre-mRNAs containing large introns, albeit via an unknown mechanism. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    The exon junction complex is required for definition and excision of neighboring introns in Drosophila
  15. 1535
    “…RESULTS: DNA sequencing revealed mutant EXT1 gene in both cases, within which frame-shift mutation c.447delC (p.Ser149fsX156) in exon1 and nonsense mutation c.2034T>G (p.Tyr678X) in exon10, emerged. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Mutant EXT1 in Taiwanese Patients with Multiple Hereditary Exostoses
  16. 1536
    por Berg, John E.
    Publicado 2014
    “…In the ensuing hours his aggressiveness and nonsense speaking rapidly diminished. Kahlbaums observation of seizures as part of a catatonia was not understood in this case. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Lorazepam Provocation Test in Purported Schizophrenia with Lack of Treatment Response
  17. 1537
    por Chen, Feng-Chi
    Publicado 2014
    “…ARS may introduce premature stop codon(s) into a transcript, and render the transcript susceptible to nonsense-mediated decay, which in turn can influence the overall gene expression level. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Alternative RNA Structure-Coupled Gene Regulations in Tumorigenesis
  18. 1538
    “…Sequence analysis of the entire ROBO3 coding regions revealed a novel nonsense mutation. CONCLUSION: We report the first known HGPPS case with intracranial hemorrhage and ROBO3 mutation showing an absence of major crossing pathways by DTI.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report
  19. 1539
    por Bee, Yong Mong, Chawla, Mayank, Zhao, Yi
    Publicado 2015
    “…A pair of heterozygous nonsense mutations in BBS2 gene was identified in the proband, one being novel and the other recurrent. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome
  20. 1540
    “…We further characterize the structural effect of the C-terminal truncation resulting from the mental-retardation linked R419X nonsense mutation in vitro and offer a mechanistic hypothesis for its irresponsiveness to thalidomide. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Structural Dynamics of the Cereblon Ligand Binding Domain
Herramientas de búsqueda: RSS