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Sökning: WFRF:(Karhu J)

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  • Kaasinen, E, et al. (författare)
  • Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans
  • 2019
  • Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 1252-
  • Tidskriftsartikel (refereegranskat)abstract
    • Clonal hematopoiesis driven by somatic heterozygous TET2 loss is linked to malignant degeneration via consequent aberrant DNA methylation, and possibly to cardiovascular disease via increased cytokine and chemokine expression as reported in mice. Here, we discover a germline TET2 mutation in a lymphoma family. We observe neither unusual predisposition to atherosclerosis nor abnormal pro-inflammatory cytokine or chemokine expression. The latter finding is confirmed in cells from three additional unrelated TET2 germline mutation carriers. The TET2 defect elevates blood DNA methylation levels, especially at active enhancers and cell-type specific regulatory regions with binding sequences of master transcription factors involved in hematopoiesis. The regions display reduced methylation relative to all open chromatin regions in four DNMT3A germline mutation carriers, potentially due to TET2-mediated oxidation. Our findings provide insight into the interplay between epigenetic modulators and transcription factor activity in hematological neoplasia, but do not confirm the putative role of TET2 in atherosclerosis.
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  • Clark, R., et al. (författare)
  • Developing a robust self evaluation framework for active learning : The first stage of an ERASMUS+ project (QAEMarketPlace4HEI)
  • 2015
  • Ingår i: Proceedings of the 43rd SEFI Annual Conference 2015 - Diversity in Engineering Education: An Opportunity to Face the New Trends of Engineering, SEFI 2015. - : European Society for Engineering Education (SEFI). - 9782873520120
  • Konferensbidrag (refereegranskat)abstract
    • In ensuring the quality of learning and teaching in Higher Education, self-evaluation is an important component of the process. An example would be the approach taken within the CDIO community whereby self-evaluation against the CDIO standards is part of the quality assurance process. Eight European universities (Reykjavik University, Iceland; Turku University of Applied Sciences, Finland; Aarhus University, Denmark; Helsinki Metropolia University of Applied Sciences, Finland; Umeå University, Sweden; Telecom Bretagne, France; Aston University, United Kingdom; Queens University Belfast, United Kingdom) are engaged in an EU funded Erasmus + project that is exploring the quality assurance process associated with active learning.
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