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- 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. |
- Guintivano, Jerry, et al.
(författare)
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Meta-Analyses of Genome-Wide Association Studies for Postpartum Depression
- 2023
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Ingår i: American Journal of Psychiatry. - : American Psychiatric Association Publishing. - 0002-953X .- 1535-7228. ; 180:12, s. 884-895
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: Postpartum depression (PPD) is a common subtype of major depressive disorder (MDD) that is more heritable, yet is understudied in psychiatric genetics. The authors conducted meta-analyses of genome-wide association studies (GWASs) to investigate the genetic architecture of PPD.METHOD: Meta-analyses were conducted on 18 cohorts of European ancestry (17,339 PPD cases and 53,426 controls), one cohort of East Asian ancestry (975 cases and 3,780 controls), and one cohort of African ancestry (456 cases and 1,255 controls), totaling 18,770 PPD cases and 58,461 controls. Post-GWAS analyses included 1) single-nucleotide polymorphism (SNP)-based heritability ([Formula: see text]), 2) genetic correlations between PPD and other phenotypes, and 3) enrichment of the PPD GWAS findings in 27 human tissues and 265 cell types from the mouse central and peripheral nervous system.RESULTS: No SNP achieved genome-wide significance in the European or the trans-ancestry meta-analyses. The [Formula: see text] of PPD was 0.14 (SE=0.02). Significant genetic correlations were estimated for PPD with MDD, bipolar disorder, anxiety disorders, posttraumatic stress disorder, insomnia, age at menarche, and polycystic ovary syndrome. Cell-type enrichment analyses implicate inhibitory neurons in the thalamus and cholinergic neurons within septal nuclei of the hypothalamus, a pattern that differs from MDD.CONCLUSIONS: While more samples are needed to reach genome-wide levels of significance, the results presented confirm PPD as a polygenic and heritable phenotype. There is also evidence that despite a high correlation with MDD, PPD may have unique genetic components. Cell enrichment results suggest GABAergic neurons, which converge on a common mechanism with the only medication approved by the U.S. Food and Drug Administration for PPD (brexanolone).
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| 3. |
- Aberg, B, et al.
(författare)
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Delayed left ventricular free wall rupture complicating coronary artery bypass surgery. A case report.
- 1985
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Ingår i: Scandinavian journal of thoracic and cardiovascular surgery. - : Informa UK Limited. - 0036-5580. ; 19:3, s. 273-7
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Tidskriftsartikel (refereegranskat)abstract
- Rupture of the left ventricular free wall is a not uncommon life-threatening complication of acute myocardial infarction and after prosthetic mitral valve replacement. To our knowledge, no case of left ventricular rupture after coronary artery bypass surgery has been reported. A case is now described in which coronary artery bypass grafting was complicated by delayed rupture, which was successfully repaired. Different etiologic factors are discussed, but the cause considered most likely was trauma from elevation of and traction on the heart in exposure of its posterior aspect.
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| 7. |
- Aberg, D, et al.
(författare)
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Ultra-shallow thermal donor formation in oxygen-containing ambient
- 1998
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Ingår i: Physica status solidi. B, Basic research. - 0370-1972 .- 1521-3951. ; 210, s. 527-532
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Tidskriftsartikel (refereegranskat)abstract
- Czochralski-grown phosphorus-doped (approximate to 2 x 10(14) cm(-3)) silicon wafers have been annealed in nitrogen, wet nitrogen, argon, oxygen, and vacuum ambients at 470 degrees C for times up to 500 h. Sample characterization was made with capacitance-voltage, four-point probe, DLTS, thermally stimulated capacitance, admittance spectroscopy, secondary ion-mass spectrometry, and Fourier transform infrared spectroscopy. This study finds a strong relation between the previously reported ultra-shallow thermal donors (USTDs) and shallow thermal donors (STDs), and it is shown that the net concentration of thermally formed donors is independent on annealing ambient within the experimental accuracy. It was found that the majority of formed donors for long anneals consisted of either STDs or USTDs, however, it was found that oxygen-containing ambient is indispensable for forming USTDs.
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| 8. |
- Aberg, D, et al.
(författare)
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Ultrashallow thermal donor formation in silicon by annealing in ambient oxygen
- 1999
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Ingår i: Journal of Applied Physics. - 0021-8979 .- 1089-7550. ; 85, s. 8054-8059
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Tidskriftsartikel (refereegranskat)abstract
- Czochralski-grown silicon wafers doped with phosphorus (similar to 10(14) cm(-3)) have been annealed in nitrogen, wet nitrogen, oxygen, argon, and vacuum ambients at 470 degrees C for times up to 500 h. Sample characterization was made using predominantly electrical techniques such as admittance spectroscopy and thermally stimulated capacitance measurements but also secondary ion mass spectrometry (SIMS) and Fourier transform infrared spectroscopy were employed. In all samples, an increasing concentration of free carrier electrons is observed with increasing annealing time, reaching a maximum of similar to 10(16) cm(-3) at 100 h. For durations in excess of 100 h gradual decrease of the free electron concentration takes place except for the samples treated in wet nitrogen and oxygen atmospheres, which display donors stable even after 200 h. These stable centers are found to have shallower donor level positions in the energy band gap (similar to 25 meV below the conduction band edge E-c) than those of the centers formed in vacuum, argon, and nitrogen atmospheres (similar to 35 meV below E-c). The latter centers are associated with the well-established shallow thermal donors (STDs) while the origin of the former ones, which are labeled ultrashallow thermal donors (USTDs) is less known. However, on the basis of a wealth of experimental results we show that the USTDs are most likely perturbated STDs modified through interaction with fast-in diffusing oxygen species, possibly oxygen dimers. Further, comparison between the electrical data and the SIMS measurements reveals unambiguously that neither the STD nor the USTD centers involve nitrogen, in contrast to recent suggestions in the literature. (C) 1999 American Institute of Physics. [S0021-8979(99)06512-3].
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