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Sökning: WFRF:(Donofrio Vittoria)

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1.
  • Barbato, Giuseppe, et al. (författare)
  • EFFECTS OF PROLONGED WAKEFULNESS : THE ROLE OF PERIOD3 GENOTYPES AND PERSONALITY TRAITS
  • 2013
  • Ingår i: Psychological Reports. - : AMMONS SCIENTIFIC, LTD. - 0033-2941 .- 1558-691X. ; 113:2, s. 540-551
  • Tidskriftsartikel (refereegranskat)abstract
    • The roles of personality traits, as assessed by Eysenck Personality Inventory, and of the clock gene PERIOD3 (PER3) were analysed on the subjective effects of prolonged wakefulness. A sample of 70 healthy participants (7 men, 63 women; M age = 24.2 yr., SD = 3.2) was studied during forced wakefulness between 7:30 p.m. and 9:30 a.m. According to Eysenck's arousal model, it was hypothesized that prolonged wakefulness might affect in a different way those classified as Introverted and Extraverted. During the forced wakefulness period, the Introverted group showed greater decrease in subjective measures of vigilance than did the Extraverted group, but no differences were observed between groups with high and low scores on Psychoticism and Neuroticism. Prolonged wakefulness had a negative effect on subjective sleepiness and mood in all three PER3 polymorphisms analysed.
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2.
  • Ferrucci, Veronica, et al. (författare)
  • Metastatic group 3 medulloblastoma is driven by PRUNE1 targeting NME1–TGF-β–OTX2–SNAIL via PTEN inhibitio
  • 2018
  • Ingår i: Brain. - : Oxford University Press (OUP). - 0006-8950 .- 1460-2156. ; 141:5, s. 1300-1319
  • Tidskriftsartikel (refereegranskat)abstract
    • Genetic modifications during development of paediatric groups 3 and 4 medulloblastoma are responsible for their highly metastatic properties and poor patient survival rates. PRUNE1 is highly expressed in metastatic medulloblastoma group 3, which is characterized by TGF-β signalling activation, c-MYC amplification, and OTX2 expression. We describe the process of activation of the PRUNE1 signalling pathway that includes its binding to NME1, TGF-β activation, OTX2 upregulation, SNAIL (SNAI1) upregulation, and PTEN inhibition. The newly identified small molecule pyrimido-pyrimidine derivative AA7.1 enhances PRUNE1 degradation, inhibits this activation network, and augments PTEN expression. Both AA7.1 and a competitive permeable peptide that impairs PRUNE1/NME1 complex formation, impair tumour growth and metastatic dissemination in orthotopic xenograft models with a metastatic medulloblastoma group 3 cell line (D425-Med cells). Using whole exome sequencing technology in metastatic medulloblastoma primary tumour cells, we also define 23 common ‘non-synonymous homozygous’ deleterious gene variants as part of the protein molecular network of relevance for metastatic processes. This PRUNE1/TGF-β/OTX2/PTEN axis, together with the medulloblastoma-driver mutations, is of relevance for future rational and targeted therapies for metastatic medulloblastoma group 3.
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