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Träfflista för sökning "WFRF:(Kosik Kenneth S) "

Search: WFRF:(Kosik Kenneth S)

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1.
  • Arboleda-Velasquez, Joseph F, et al. (author)
  • Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report.
  • 2019
  • In: Nature medicine. - : Springer Science and Business Media LLC. - 1546-170X .- 1078-8956. ; 25:11, s. 1680-1683
  • Journal article (peer-reviewed)abstract
    • We identified a PSEN1 (presenilin 1) mutation carrier from the world's largest autosomal dominant Alzheimer's disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset. The individual had two copies of the APOE3 Christchurch (R136S) mutation, unusually high brain amyloid levels and limited tau and neurodegenerative measurements. Our findings have implications for the role of APOE in the pathogenesis, treatment and prevention of Alzheimer's disease.
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2.
  • Golkaram, Mahdi, et al. (author)
  • The role of chromatin density in cell population heterogeneity during stem cell differentiation
  • 2017
  • In: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 7, s. 13307:1-11
  • Journal article (peer-reviewed)abstract
    • We incorporate three-dimensional (3D) conformation of chromosome (Hi-C) and single-cell RNA sequencing data together with discrete stochastic simulation, to explore the role of chromatin reorganization in determining gene expression heterogeneity during development. While previous research has emphasized the importance of chromatin architecture on activation and suppression of certain regulatory genes and gene networks, our study demonstrates how chromatin remodeling can dictate gene expression distribution by folding into distinct topological domains. We hypothesize that the local DNA density during differentiation accentuate transcriptional bursting due to the crowding effect of chromatin. This phenomenon yields a heterogeneous cell population, thereby increasing the potential of differentiation of the stem cells.
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