Publications by authors named "M Kjolby"

Background: Gene set tests can pinpoint genes and biological pathways that exert small to moderate effects on complex diseases like Type 2 Diabetes (T2D). By aggregating genetic markers based on biological information, these tests can enhance the statistical power needed to detect genetic associations.

Results: Our goal was to develop a gene set test utilizing Bayesian Linear Regression (BLR) models, which account for both linkage disequilibrium (LD) and the complex genetic architectures intrinsic to diseases, thereby increasing the detection power of genetic associations.

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Genome-wide association studies (GWAS) provide valuable insights into the genetic architecture of complex traits, yet interpreting their results remains challenging due to the polygenic nature of most traits. Gene set analysis offers a solution by aggregating genetic variants into biologically relevant pathways, enhancing the detection of coordinated effects across multiple genes. In this study, we present and evaluate a gene set prioritization approach utilizing Bayesian Linear Regression (BLR) models to uncover shared genetic components among different phenotypes and facilitate biological interpretation.

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Introduction: Children and adolescents with recent-onset type 1 diabetes (T1D) commonly maintain a certain level of insulin production during the remission phase, which can last months to years. Preserving β-cell function can reduce T1D complications and improve glycaemic control. Influenza vaccination has pleiotropic effects and administration of the vaccine during the early phases of T1D may offer β-cell protection.

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Glioblastoma is a highly heterogeneous tumor whose pathophysiological complexities dictate both the diagnosis of disease severity as well as response to therapy. Conventional diagnostic tools and standard treatment regimens have only managed to achieve limited success in the management of patients suspected of glioblastoma. Extracellular vesicles are an emerging liquid biopsy tool that has shown great promise in resolving the limitations presented by the heterogeneous nature of glioblastoma.

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Article Synopsis
  • The study explores the pharmacokinetics (how the drug moves in the body) and pharmacodynamics (the effects of the drug) of cannabis-based medicine (CBM) in patients with multiple sclerosis (MS) suffering from neuropathic pain and spasticity.
  • Out of 134 participants in a larger trial, 23 were focused on in this substudy, receiving either THC, CBD, a combination, or a placebo, with significant variability in dosages and individual responses observed.
  • Though the pharmacokinetic data was similar to previous findings in healthy individuals, no significant effects on the pain and spasticity parameters were noted, although adverse events were more common in the treatment groups compared to placebo.
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