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Träfflista för sökning "WFRF:(Mourelatos Zissimos) srt2:(2011)"

Search: WFRF:(Mourelatos Zissimos) > (2011)

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1.
  • Couthouis, Julien, et al. (author)
  • A yeast functional screen predicts new candidate ALS disease genes
  • 2011
  • In: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 108:52, s. 20881-20890
  • Journal article (peer-reviewed)abstract
    • Amyotrophic lateral sclerosis (ALS) is a devastating and universally fatal neurodegenerative disease. Mutations in two related RNA-binding proteins, TDP-43 and FUS, that harbor prion-like domains, cause some forms of ALS. There are at least 213 human proteins harboring RNA recognition motifs, including FUS and TDP-43, raising the possibility that additional RNA-binding proteins might contribute to ALS pathogenesis. We performed a systematic survey of these proteins to find additional candidates similar to TDP-43 and FUS, followed by bioinformatics to predict prion-like domains in a subset of them. We sequenced one of the segenes, TAF15, in patients with ALS and identified missense variants, which were absent in a large number of healthy controls. These disease-associated variants of TAF15 caused formation of cytoplasmic foci when expressed in primary cultures of spinal cord neurons. Very similar to TDP-43 and FUS, TAF15 aggregated in vitro and conferred neurodegeneration in Drosophila, with the ALS-linked variants having amore severe effect than wild type. Immunohistochemistry of postmortem spinal cord tissue revealed mislocalization of TAF15 in motor neurons of patients with ALS. We propose that aggregation-prone RNA-binding proteins might contribute very broadly to ALS pathogenesis and the genes identified in our yeast functional screen, coupled with prion-like domain prediction analysis, now provide a powerful resource to facilitate ALS disease gene discovery.
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2.
  • Drignei, Dorin, et al. (author)
  • A Variable-Size Local Domain Approach to Computer Model Validation in Design Optimization
  • 2011
  • In: SAE International Journal of Materials & Manufacturing. - : SAE International. - 1946-3979 .- 1946-3987. ; 4:1, s. 421-429
  • Journal article (peer-reviewed)abstract
    • A common approach to the validation of simulation models focuses on validation throughout the entire design space. A more recent methodology validates designs as they are generated during a simulation-based optimization process. The latter method relies on validating the simulation model in a sequence of local domains. To improve its computational efficiency, this paper proposes an iterative process, where the size and shape of local domains at the current step are determined from a parametric bootstrap methodology involving maximum likelihood estimators of unknown model parameters from the previous step. Validation is carried out in the local domain at each step. The iterative process continues until the local domain does not change from iteration to iteration during the optimization process ensuring that a converged design optimum has been obtained. The proposed methodology is illustrated using a thermal, one-dimensional, linear heat conduction problem in a solid slab with heat flux boundary conditions
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