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Sökning: WFRF:(Kauppi P.)

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1.
  • Sliz, E., et al. (författare)
  • Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
  • 2023
  • Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.
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  • Tabassum, R, et al. (författare)
  • Genetic architecture of human plasma lipidome and its link to cardiovascular disease
  • 2019
  • Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4329-
  • Tidskriftsartikel (refereegranskat)abstract
    • Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10−8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD.
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  • Obersteiner, M., et al. (författare)
  • Managing climate risk
  • 2001
  • Ingår i: Science magazine. - Washington DC : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 294:5543, s. 786-787
  • Tidskriftsartikel (refereegranskat)abstract
    • Stabilization of atmospheric greenhouse gas (GHG) concentrations at a safe level is a paradigm that the scientific andpolicy communities have widely adopted for addressing the problem of climate change. However, aiming to stabilize concentrations at a single target level might not be a robust strategy, given that the environment is extremely uncertain. The availability of technological options for adaptation, preventive mitigation, and backstop risk measures will be critical for limiting the risks associated with climate change. Technologies that can rapidly remove GHGs from the atmosphere will play an important role. Terrestrial sinks are limited by land requirements and saturation, and concerns about permanence limit their attractiveness. Biomass energy can be used both to produce carbon neutral energy carriers, e.g., electricity and hydrogen, and at the same time offer a permanent CO2 sink by capturing carbon from the biomass at the conversion facility and permanently storing it in geological formations. It is concluded that a system of climate risk management is practicable and necessary. Increasing deployment of sustainable bioenergy with carbon removal and sequestration, together with structural shift toward low carbon-intensive fuels, will turn out to be instrumental for such a risk-limiting regime.
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  • Obersteiner, M., et al. (författare)
  • Managing Climate Risks
  • 2001
  • Ingår i: Science. ; 294:5543, s. 786-787
  • Tidskriftsartikel (refereegranskat)
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  • Resultat 1-10 av 35

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