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Sökning: WFRF:(Gasser Jessica)

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  • Manning, Alisa, et al. (författare)
  • A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk
  • 2017
  • Ingår i: Diabetes. - : American Diabetes Association. - 0012-1797 .- 1939-327X. ; 66:7, s. 2019-2032
  • Tidskriftsartikel (refereegranskat)abstract
    • To identify novel coding association signals and facilitate characterization of mechanisms influencing glycemic traits and type 2 diabetes risk, we analyzed 109,215 variants derived from exome array genotyping together with an additional 390,225 variants from exome sequence in up to 39,339 normoglycemic individuals from five ancestry groups. We identified a novel association between the coding variant (p.Pro50Thr) in AKT2 and fasting plasma insulin (FI), a gene in which rare fully penetrant mutations are causal for monogenic glycemic disorders. The low-frequency allele is associated with a 12% increase in FI levels. This variant is present at 1.1% frequency in Finns but virtually absent in individuals from other ancestries. Carriers of the FI-increasing allele had increased 2-h insulin values, decreased insulin sensitivity, and increased risk of type 2 diabetes (odds ratio 1.05). In cellular studies, the AKT2-Thr50 protein exhibited a partial loss of function. We extend the allelic spectrum for coding variants in AKT2 associated with disorders of glucose homeostasis and demonstrate bidirectional effects of variants within the pleckstrin homology domain of AKT2.
  • Wäfler, Toni, et al. (författare)
  • Human Control Capabilities
  • 2011
  • Ingår i: Behavioral Operations in Planning and Scheduling. - : Springer. - 9783642133817
  • Bokkapitel (övrigt vetenskapligt)abstract
    • This chapter has been triggered by the experience that the implementation of new information technology (IT) supporting planning, scheduling, and control – although being more sophisticated than earlier systems – does not necessarily result in better control. Also, the experience was made that the implementation of the same IT leads to different results in similar organisations. Against this background, we introduce a process model of control (Sect. 10.2). The model proposes a set of interrelated factors determining control. At its core it assumes that control results as a fit of control requirements and control behaviour. The former is determined by operational uncertainties the latter by control opportunities, control skills and control motivation. Since the implementation of a new IT can have an impact on all these factors it can lead to a misfit of control behaviour and control requirements and hence to low control – even if the new IT itself is more powerful than the old IT. Furthermore, we also discuss motivational influences these changes may have on human behaviour (Sect. 10.3). Finally we derive some practical dos and don’ts when implementing new IT (Sect. 10.4).
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