| 1. |
- Sliz, E., et al.
(författare)
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Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
- 2023
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
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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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| 2. |
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| 3. |
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| 4. |
- Tabassum, R, et al.
(författare)
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Genetic architecture of human plasma lipidome and its link to cardiovascular disease
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4329-
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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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| 5. |
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| 6. |
- Speliotes, Elizabeth K., et al.
(författare)
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Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 937-948
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Tidskriftsartikel (refereegranskat)abstract
- Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and ~2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 additional individuals. We confirmed 14 known obesity susceptibility loci and identified 18 new loci associated with body mass index (P < 5 × 10−8), one of which includes a copy number variant near GPRC5B. Some loci (at MC4R, POMC, SH2B1 and BDNF) map near key hypothalamic regulators of energy balance, and one of these loci is near GIPR, an incretin receptor. Furthermore, genes in other newly associated loci may provide new insights into human body weight regulation.
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| 7. |
- Grahn, T., et al.
(författare)
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Collectivity and configuration mixing in Pb186,188 and Po194
- 2006
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Ingår i: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 97:6
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Tidskriftsartikel (refereegranskat)abstract
- Lifetimes of prolate intruder states in Pb186 and oblate intruder states in Po194 have been determined by employing, for the first time, the recoil-decay tagging technique in recoil distance Doppler-shift lifetime measurements. In addition, lifetime measurements of prolate states in Pb188 up to the 8+ state were carried out using the recoil-gating method. The B(E2) values have been deduced from which deformation parameters |β2|=0.29(5) and |β2|=0.17(3) for the prolate and the oblate bands, respectively, have been extracted. The results also shed new light on the mixing between different shapes.
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| 8. |
- Andreyev, A. N., et al.
(författare)
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In-beam and alpha-decay spectroscopy of Po-191 and evidence for triple shape coexistence at low energy in the daughter nucleus Pb-187
- 2002
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Ingår i: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 66:1
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Tidskriftsartikel (refereegranskat)abstract
- Prompt gamma rays have been observed for the first time from the neutron-deficient nucleus Po-191 using the recoil-decay tagging technique at the RITU gas-filled separator. In addition improved alpha decay data have been measured for Po-191 and its daughter product Pb-187. The complementary gamma- and alpha-decay data point to the onset of oblate deformation in the light odd-mass Po nuclei by approaching the neutron midshell at N=104. The pattern of the favored and unfavored states observed on top of the 13/2(+) isomer in Po-191 indicates a change from the weak-coupling towards the strong-coupling scheme in Po-191m. In the daughter nucleus Pb-187, the 13/2(+) and 3/2(-) isomeric states become degenerate within the experimental accuracy. Evidence for triple shape coexistence at low energy has been found in the high-spin isomer in Pb-187. The results are supported by potential-energy surface calculations and by particle-plus-rotor calculations.
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| 9. |
- Bäck, Torbjörn, et al.
(författare)
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First observation of gamma-rays from the proton emitter Au-171
- 2003
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Ingår i: European Physical Journal A. - : Springer Science and Business Media LLC. - 1434-6001 .- 1434-601X. ; 16:4, s. 489-494
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Tidskriftsartikel (refereegranskat)abstract
- Gamma-rays from the alpha- and proton-unstable nuclide Au-171 have been observed for the first time. The gamma-rays were correlated with both a proton- and an alpha-particle decay branch, confirming that the nucleus decays by alpha and proton emission from a single (11/2(-)) state. The measurement confirms the previously determined half-lives for these particle decays but the present values are of higher precision. In addition, a longer half-life than determined in previous work was measured for the proton-unstable tentative ground state. The results are discussed in relation to structures in neighbouring nuclei and compared with a Strutinsky-type TRS calculation.
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| 10. |
- Bäck, Torbjörn, et al.
(författare)
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Spectroscopy of the neutron-deficient nuclide Pt-171
- 2003
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Ingår i: European Physical Journal A. - : Springer Science and Business Media LLC. - 1434-6001 .- 1434-601X. ; 17:1, s. 1-5
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Tidskriftsartikel (refereegranskat)abstract
- A number of previously unobserved gamma-rays emitted from the neutron-deficient nuclide Pt-171 have been identified using the recoil decay tagging technique. The level scheme has been updated using information from gamma-gamma coincidences and angular distribution measurements. To further confirm the assignments of the gamma-rays to Pt-171, the events were correlated with the alpha-decay of the daughter nucleus Os-167.
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