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| 2. |
- Akiba, K., et al.
(författare)
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LHC forward physics
- 2016
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Ingår i: Journal of Physics G: Nuclear and Particle Physics. - : IOP Publishing. - 0954-3899 .- 1361-6471. ; 43:11
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Tidskriftsartikel (refereegranskat)
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| 3. |
- 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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The Seventeenth Data Release of the Sloan Digital Sky Surveys : Complete Release of MaNGA, MaStar, and APOGEE-2 Data
- 2022
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Ingår i: Astrophysical Journal Supplement Series. - : Institute of Physics (IOP). - 0067-0049 .- 1538-4365. ; 259:2
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Tidskriftsartikel (refereegranskat)abstract
- This paper documents the seventeenth data release (DR17) from the Sloan Digital Sky Surveys; the fifth and final release from the fourth phase (SDSS-IV). DR17 contains the complete release of the Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey, which reached its goal of surveying over 10,000 nearby galaxies. The complete release of the MaNGA Stellar Library accompanies this data, providing observations of almost 30,000 stars through the MaNGA instrument during bright time. DR17 also contains the complete release of the Apache Point Observatory Galactic Evolution Experiment 2 survey that publicly releases infrared spectra of over 650,000 stars. The main sample from the Extended Baryon Oscillation Spectroscopic Survey (eBOSS), as well as the subsurvey Time Domain Spectroscopic Survey data were fully released in DR16. New single-fiber optical spectroscopy released in DR17 is from the SPectroscipic IDentification of ERosita Survey subsurvey and the eBOSS-RM program. Along with the primary data sets, DR17 includes 25 new or updated value-added catalogs. This paper concludes the release of SDSS-IV survey data. SDSS continues into its fifth phase with observations already underway for the Milky Way Mapper, Local Volume Mapper, and Black Hole Mapper surveys.
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| 6. |
- Estanqueiro, A., et al.
(författare)
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Energy storage for wind integration : Hydropower and other contributions
- 2012
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Ingår i: Power and Energy Society General Meeting, 2012 IEEE. - : IEEE. - 9781467327275 ; , s. 6344652-
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Konferensbidrag (refereegranskat)abstract
- The amount of wind power and other timevariable non-dispatchable renewable energy sources (RES) is rapidly increasing in the world. A few power systems are already facing very high penetrations from variable renewables which can surpass the systems' consumption during no-load periods, requiring the energy excess to be curtailed, exported or stored. The limitations of electric energy storage naturally lead to the selection of the well-known form of storing potential energy in reservoirs of reversible hydropower stations, although other technologies such as heat storage are also being used successfully. This paper reviews the storage technologies that are available and may be used on a power system scale and compares their advantages and disadvantages for the integration of fast-growing renewables, such as wind power, with a special focus on the role of pumped hydro storage.
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| 9. |
- Kurki, MI, et al.
(författare)
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FinnGen provides genetic insights from a well-phenotyped isolated population
- 2023
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 613:7944, s. 508-
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Tidskriftsartikel (refereegranskat)abstract
- Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived the founding bottleneck rather than being distributed over a large number of ultrarare variants. Although this effect is well established in Mendelian genetics, its value in common disease genetics is less explored1,2. FinnGen aims to study the genome and national health register data of 500,000 Finnish individuals. Given the relatively high median age of participants (63 years) and the substantial fraction of hospital-based recruitment, FinnGen is enriched for disease end points. Here we analyse data from 224,737 participants from FinnGen and study 15 diseases that have previously been investigated in large genome-wide association studies (GWASs). We also include meta-analyses of biobank data from Estonia and the United Kingdom. We identified 30 new associations, primarily low-frequency variants, enriched in the Finnish population. A GWAS of 1,932 diseases also identified 2,733 genome-wide significant associations (893 phenome-wide significant (PWS), P < 2.6 × 10–11) at 2,496 (771 PWS) independent loci with 807 (247 PWS) end points. Among these, fine-mapping implicated 148 (73 PWS) coding variants associated with 83 (42 PWS) end points. Moreover, 91 (47 PWS) had an allele frequency of <5% in non-Finnish European individuals, of which 62 (32 PWS) were enriched by more than twofold in Finland. These findings demonstrate the power of bottlenecked populations to find entry points into the biology of common diseases through low-frequency, high impact variants.
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| 14. |
- Espeland, Marianne, et al.
(författare)
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Combining target enrichment and Sanger sequencing data to clarify the systematics of the diverse Neotropical butterfly subtribe Euptychiina (Nymphalidae, Satyrinae)
- 2023
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Ingår i: Systematic Entomology. - 0307-6970. ; 48:4, s. 498-570
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Tidskriftsartikel (refereegranskat)abstract
- The diverse, largely Neotropical subtribe Euptychiina is widely regarded as one of the most taxonomically challenging groups among all butterflies. Over the last two decades, morphological and molecular studies have revealed widespread paraphyly and polyphyly among genera, and a comprehensive, robust phylogenetic hypothesis is needed to build a firm generic classification to support ongoing taxonomic revisions at the species level. Here, we generated a dataset that includes sequences for up to nine nuclear genes and the mitochondrial COI ‘barcode’ for a total of 1280 specimens representing 449 described and undescribed species of Euptychiina and 39 out-groups, resulting in the most complete phylogeny for the subtribe to date. In combination with a recently developed genomic backbone tree, this dataset resulted in a topology with strong support for most branches. We recognize eight major clades that each contain two or more genera, together containing all but seven Euptychiina genera. We provide a summary of the taxonomy, diversity and natural history of each clade, and discuss taxonomic changes implied by the phylogenetic results. We describe nine new genera to accommodate 38 described species: Lazulina Willmott, Nakahara & Espeland, gen.n., Saurona Huertas & Willmott, gen.n., Argentaria Huertas & Willmott, gen.n., Taguaiba Freitas, Zacca & Siewert, gen.n., Xenovena Marín & Nakahara, gen.n., Deltaya Willmott, Nakahara & Espeland, gen.n., Modica Zacca, Casagrande & Willmott, gen.n., Occulta Nakahara & Willmott, gen.n., and Trico Nakahara & Espeland, gen.n. We also synonymize Nubila Viloria, Andrade & Henao, 2019 (syn.n.) with Splendeuptychia Forster, 1964, Macrocissia Viloria, Le Crom & Andrade, 2019 (syn.n.) with Satyrotaygetis Forster, 1964, and Rudyphthimoides Viloria, 2022 (syn.n.) with Malaveria Viloria & Benmesbah, 2020. Overall, we revised the generic placement of 79 species (74 new generic combinations and five revised combinations), and as a result all but six described species of Euptychiina are accommodated within 70 named, monophyletic genera. For all newly described genera, we provide illustrations of representative species, drawings of wing venation and male and (where possible) female genitalia, and distribution maps, and summarize the natural history of the genus. For three new monotypic genera, Occulta gen.n., Trico gen.n. and Xenovena gen.n. we provide a taxonomic revision with a review of the taxonomy of each species and data from examined specimens. We provide a revised synonymic list for Euptychiina containing 460 valid described species, 53 subspecies and 255 synonyms, including several new synonyms and reinstated species.
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| 15. |
- Huertas-Hernando, D., et al.
(författare)
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Hydro power flexibility for power systems with variable renewable energy sources : An IEA Task 25 collaboration
- 2016
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Ingår i: Wiley Interdisciplinary Reviews. - : John Wiley & Sons. - 2041-8396 .- 2041-840X.
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Tidskriftsartikel (refereegranskat)abstract
- Hydro power is one of the most flexible sources of electricity production. Power systems with considerable amounts of flexible hydro power potentially offer easier integration of variable generation, e.g., wind and solar. However, there exist operational constraints to ensure mid-/long-term security of supply while keeping river flows and reservoirs levels within permitted limits. In order to properly assess the effective available hydro power flexibility and its value for storage, a detailed assessment of hydro power is essential. Due to the inherent uncertainty of the weather-dependent hydrological cycle, regulation constraints on the hydro system, and uncertainty of internal load as well as variable generation (wind and solar), this assessment is complex. Hence, it requires proper modeling of all the underlying interactions between hydro power and the power system, with a large share of other variable renewables. A summary of existing experience of wind integration in hydro-dominated power systems clearly points to strict simulation methodologies. Recommendations include requirements for techno-economic models to correctly assess strategies for hydro power and pumped storage dispatch. These models are based not only on seasonal water inflow variations but also on variable generation, and all these are in time horizons from very short term up to multiple years, depending on the studied system. Another important recommendation is to include a geographically detailed description of hydro power systems, rivers' flows, and reservoirs as well as grid topology and congestion.
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| 16. |
- Lopez-Saavedra, A, et al.
(författare)
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A genome-wide screening uncovers the role of CCAR2 as an antagonist of DNA end resection
- 2016
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7, s. 12364-
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Tidskriftsartikel (refereegranskat)abstract
- There are two major and alternative pathways to repair DNA double-strand breaks: non-homologous end-joining and homologous recombination. Here we identify and characterize novel factors involved in choosing between these pathways; in this study we took advantage of the SeeSaw Reporter, in which the repair of double-strand breaks by homology-independent or -dependent mechanisms is distinguished by the accumulation of green or red fluorescence, respectively. Using a genome-wide human esiRNA (endoribonuclease-prepared siRNA) library, we isolate genes that control the recombination/end-joining ratio. Here we report that two distinct sets of genes are involved in the control of the balance between NHEJ and HR: those that are required to facilitate recombination and those that favour NHEJ. This last category includes CCAR2/DBC1, which we show inhibits recombination by limiting the initiation and the extent of DNA end resection, thereby acting as an antagonist of CtIP.
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| 17. |
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