| 1. |
- Kanai, M, et al.
(författare)
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- 2023
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swepub:Mat__t
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| 2. |
- Niemi, MEK, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 3. |
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| 4. |
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| 6. |
- Wightman, D. P., et al.
(författare)
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A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease
- 2021
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Ingår i: Nature Genetics. - : Springer Nature. - 1061-4036 .- 1546-1718. ; 53:9, s. 1276-1282
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Tidskriftsartikel (refereegranskat)abstract
- Late-onset Alzheimer’s disease is a prevalent age-related polygenic disease that accounts for 50–70% of dementia cases. Currently, only a fraction of the genetic variants underlying Alzheimer’s disease have been identified. Here we show that increased sample sizes allowed identification of seven previously unidentified genetic loci contributing to Alzheimer’s disease. This study highlights microglia, immune cells and protein catabolism as relevant to late-onset Alzheimer’s disease, while identifying and prioritizing previously unidentified genes of potential interest. We anticipate that these results can be included in larger meta-analyses of Alzheimer’s disease to identify further genetic variants that contribute to Alzheimer’s pathology.
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| 7. |
- Eijsbouts, C., et al.
(författare)
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Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders
- 2021
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 53:11, s. 1543-1552
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Tidskriftsartikel (refereegranskat)abstract
- Irritable bowel syndrome (IBS) results from disordered brain–gut interactions. Identifying susceptibility genes could highlight the underlying pathophysiological mechanisms. We designed a digestive health questionnaire for UK Biobank and combined identified cases with IBS with independent cohorts. We conducted a genome-wide association study with 53,400 cases and 433,201 controls and replicated significant associations in a 23andMe panel (205,252 cases and 1,384,055 controls). Our study identified and confirmed six genetic susceptibility loci for IBS. Implicated genes included NCAM1, CADM2, PHF2/FAM120A, DOCK9, CKAP2/TPTE2P3 and BAG6. The first four are associated with mood and anxiety disorders, expressed in the nervous system, or both. Mirroring this, we also found strong genome-wide correlation between the risk of IBS and anxiety, neuroticism and depression (rg > 0.5). Additional analyses suggested this arises due to shared pathogenic pathways rather than, for example, anxiety causing abdominal symptoms. Implicated mechanisms require further exploration to help understand the altered brain–gut interactions underlying IBS. © 2021, The Author(s).
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| 8. |
- Ganna, A., et al.
(författare)
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Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior
- 2019
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 365:6456
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Tidskriftsartikel (refereegranskat)abstract
- Twin and family studies have shown that same-sex sexual behavior is partly genetically influenced, but previous searches for specific genes involved have been underpowered. We performed a genome-wide association study (GWAS) on 477,522 individuals, revealing five loci significantly associated with same-sex sexual behavior. In aggregate, all tested genetic variants accounted for 8 to 25% of variation in same-sex sexual behavior, only partially overlapped between males and females, and do not allow meaningful prediction of an individual's sexual behavior. Comparing these GWAS results with those for the proportion of same-sex to total number of sexual partners among nonheterosexuals suggests that there is no single continuum from opposite-sex to same-sex sexual behavior. Overall, our findings provide insights into the genetics underlying same-sex sexual behavior and underscore the complexity of sexuality.
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| 9. |
- Fowler, A. M., et al.
(författare)
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Environmental benefits of leaving offshore infrastructure in the ocean
- 2018
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Ingår i: Frontiers in Ecology and the Environment. - : Wiley. - 1540-9295. ; 16:10, s. 571-578
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Tidskriftsartikel (refereegranskat)abstract
- The removal of thousands of structures associated with oil and gas development from the world's oceans is well underway, yet the environmental impacts of this decommissioning practice remain unknown. Similar impacts will be associated with the eventual removal of offshore wind turbines. We conducted a global survey of environmental experts to guide best decommissioning practices in the North Sea, a region with a substantial removal burden. In contrast to current regulations, 94.7% of experts (36 out of 38) agreed that a more flexible case-by-case approach to decommissioning could benefit the North Sea environment. Partial removal options were considered to deliver better environmental outcomes than complete removal for platforms, but both approaches were equally supported for wind turbines. Key considerations identified for decommissioning were biodiversity enhancement, provision of reef habitat, and protection from bottom trawling, all of which are negatively affected by complete removal. We provide recommendations to guide the revision of offshore decommissioning policy, including a temporary suspension of obligatory removal.
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| 15. |
- Sampson, Timothy R., et al.
(författare)
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A gut bacterial amyloid promotes α-synuclein aggregation and motor impairment in mice
- 2020
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Ingår i: eLife. - 2050-084X. ; 9
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Tidskriftsartikel (refereegranskat)abstract
- Amyloids are a class of protein with unique self-aggregation properties, and their aberrant accumulation can lead to cellular dysfunctions associated with neurodegenerative diseases. While genetic and environmental factors can influence amyloid formation, molecular triggers and/or facilitators are not well defined. Growing evidence suggests that non-identical amyloid proteins may accelerate reciprocal amyloid aggregation in a prion-like fashion. While humans encode ~30 amyloidogenic proteins, the gut microbiome also produces functional amyloids. For example, curli are cell surface amyloid proteins abundantly expressed by certain gut bacteria. In mice overexpressing the human amyloid α-synuclein (αSyn), we reveal that colonization with curli-producing Escherichia coli promotes αSyn pathology in the gut and the brain. Curli expression is required for E. coli to exacerbate αSyn-induced behavioral deficits, including intestinal and motor impairments. Purified curli subunits accelerate αSyn aggregation in biochemical assays, while oral treatment of mice with a gut-restricted amyloid inhibitor prevents curli-mediated acceleration of pathology and behavioral abnormalities. We propose that exposure to microbial amyloids in the gastrointestinal tract can accelerate αSyn aggregation and disease in the gut and the brain.
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| 16. |
- Shastri, S. D., et al.
(författare)
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High-energy X-ray optics with silicon saw-tooth refractive lenses
- 2007
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Ingår i: Journal of Synchrotron Radiation. - : International Union of Crystallography (IUCr). - 0909-0495 .- 1600-5775. ; 14, s. 204-211
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Tidskriftsartikel (refereegranskat)abstract
- Silicon saw-tooth refractive lenses have been in successful use for vertical focusing and collimation of high-energy X-rays (50-100 keV) at the 1-ID undulator beamline of the Advanced Photon Source. In addition to presenting an effectively parabolic thickness profile, as required for aberration-free refractive optics, these devices allow high transmission and continuous tunability in photon energy and focal length. Furthermore, the use of a single-crystal material (i.e. Si) minimizes small-angle scattering background. The focusing performance of such saw-tooth lenses, used in conjunction with the 1-ID beamline's bent double-Laue monochromator, is presented for both short (similar to 1: 0.02) and long (similar to 1: 0.6) focal-length geometries, giving line-foci in the 2 mu m-25 mu m width range with 81 keV X-rays. In addition, a compound focusing scheme was tested whereby the radiation intercepted by a distant short-focal-length lens is increased by having it receive a collimated beam from a nearer ( upstream) lens. The collimation capabilities of Si saw-tooth lenses are also exploited to deliver enhanced throughput of a subsequently placed small-angular-acceptance high-energy-resolution post-monochromator in the 50-80 keV range. The successful use of such lenses in all these configurations establishes an important detail, that the pre-monochromator, despite being comprised of vertically reflecting bent Laue geometry crystals, can be brilliance-preserving to a very high degree.
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| 17. |
- Shastri, S D, et al.
(författare)
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High-energy X-ray optics with silicon saw-tooth refractive lenses
- 2007
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Ingår i: Journal of Synchrotron Radiation. - 0909-0495 .- 1600-5775. ; 14:part 2, s. 204-211
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Tidskriftsartikel (refereegranskat)abstract
- Silicon saw-tooth refractive lenses have been in successful use for vertical focusing and collimation of high-energy X-rays (50-100 keV) at the 1-ID undulator beamline of the Advanced Photon Source. In addition to presenting an effectively parabolic thickness profile, as required for aberration-free refractive optics, these devices allow high transmission and continuous tunability in photon energy and focal length. Furthermore, the use of a single-crystal material (i.e. Si) minimizes small-angle scattering background. The focusing performance of such saw-tooth lenses, used in conjunction with the 1-ID beamline's bent double-Laue monochromator, is presented for both short (1:0.02) and long (1:0.6) focal-length geometries, giving line-foci in the 2 µm-25 µm width range with 81 keV X-rays. In addition, a compound focusing scheme was tested whereby the radiation intercepted by a distant short-focal-length lens is increased by having it receive a collimated beam from a nearer (upstream) lens. The collimation capabilities of Si saw-tooth lenses are also exploited to deliver enhanced throughput of a subsequently placed small-angular-acceptance high-energy-resolution post-monochromator in the 50-80 keV range. The successful use of such lenses in all these configurations establishes an important detail, that the pre-monochromator, despite being comprised of vertically reflecting bent Laue geometry crystals, can be brilliance-preserving to a very high degree.
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| 18. |
- Shastri, S, et al.
(författare)
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HIV-1 discordant couples in Karnataka, South India: is the sex ratio of index cases changing?
- 2012
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Ingår i: International journal of STD & AIDS. - : SAGE Publications. - 1758-1052 .- 0956-4624. ; 23:7, s. 502-506
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Tidskriftsartikel (refereegranskat)abstract
- India has an estimated 2.5 million HIV infections, most of which are heterosexually transmitted. Women comprise 40% of infected adults. In India, 90% of women between the ages of 15 and 45 years are married. Previous literature has suggested that sexual intercourse with an HIV-infected husband represents a married woman's greatest risk for being infected. However, a recent meta-analysis of discordant couples from sub-Saharan Africa reported that women were the index case in half of all couples. Similar data are not available from India. This cross-sectional study describes the epidemiology of 925 discordant couples from five districts in Karnataka province, one of the high HIV prevalence provinces in India. Men were the index case in 74% of couples. However, in young couples (where the index case was aged <30 years), women were more likely to be the infected partner (64% of couples). Condom use was reported by 46% of these discordant couples. These results suggest an emerging predominance of female index case infections among younger discordant couples in India, and point to the need for focusing HIV preventive messages on youth and couples before marriage.
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| 19. |
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| 20. |
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