| 1. |
- Scandariato, G., et al.
(författare)
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CHEOPS (CHaracterizing ExOPlanets Satellite) Mission
- 2016
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Ingår i: Proceedings of Science. - 1824-8039. ; 2016-May
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Tidskriftsartikel (refereegranskat)abstract
- The Characterizing ExOPlanet Satellite (CHEOPS) mission was selected in October 2012 by ESA as the first small mission. It will be a ultra-high precision photometer dedicated to the observation of transits of known exoplanets on bright stars, for which the mass has already been measured via ground-based spectroscopic surveys. Its precision will allow the accurate determination of the planetary radii and, by consequence, the planetary bulk density. CHEOPS will also unveil transiting exoplanets of interest for in-depth characterization, a legacy for future instruments suited to the spectroscopic characterization of exoplanetary atmospheres.
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| 2. |
- van der Harst, Pim, et al.
(författare)
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Seventy-five genetic loci influencing the human red blood cell
- 2012
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 492:7429, s. 369-375
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Tidskriftsartikel (refereegranskat)abstract
- Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. To understand further the genetic factors influencing red blood cells, we carried out a genome-wide association study of haemoglobin concentration and related parameters in up to 135,367 individuals. Here we identify 75 independent genetic loci associated with one or more red blood cell phenotypes at P < 10(-8), which together explain 4-9% of the phenotypic variance per trait. Using expression quantitative trait loci and bioinformatic strategies, we identify 121 candidate genes enriched in functions relevant to red blood cell biology. The candidate genes are expressed preferentially in red blood cell precursors, and 43 have haematopoietic phenotypes in Mus musculus or Drosophila melanogaster. Through open-chromatin and coding-variant analyses we identify potential causal genetic variants at 41 loci. Our findings provide extensive new insights into genetic mechanisms and biological pathways controlling red blood cell formation and function.
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| 3. |
- Jenab, M, et al.
(författare)
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Plasma and dietary carotenoid, retinol and tocopherol levels and the risk of gastric adenocarcinomas in the European prospective investigation into cancer and nutrition
- 2006
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Ingår i: British Journal of Cancer. - : Springer Science and Business Media LLC. - 1532-1827 .- 0007-0920. ; 95:3, s. 406-415
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Tidskriftsartikel (refereegranskat)abstract
- Despite declining incidence rates, gastric cancer (GC) is a major cause of death worldwide. Its aetiology may involve dietary antioxidant micronutrients such as carotenoids and tocopherols. The objective of this study was to determine the association of plasma levels of seven common carotenoids, their total plasma concentration, retinol and alpha- and gamma-tocopherol, with the risk of gastric adenocarcinoma in a case-control study nested within the European Prospective Investigation into Cancer and Nutrition (EPIC), a large cohort involving 10 countries. A secondary objective was to determine the association of total sum of carotenoids, retinol and alpha-tocopherol on GCs by anatomical subsite (cardia/noncardia) and histological subtype (diffuse/intestinal). Analytes were measured by high-performance liquid chromatography in prediagnostic plasma from 244 GC cases and 645 controls matched by age, gender, study centre and date of blood donation. Conditional logistic regression models adjusted by body mass index, total energy intake, smoking and Helicobacter pylori infection status were used to estimate relative cancer risks. After an average 3.2 years of follow-up, a negative association with GC risk was observed in the highest vs the lowest quartiles of plasma beta-cryptoxanthin (odds ratio (OR) = 0.53, 95% confidence intervals (CI) = 0.30-0.94, P(trend) = 0.006), zeaxanthin (OR = 0.39, 95% CI = 0.22-0.69, P(trend) = 0.005), retinol (OR = 0.55, 95% CI = 0.33-0.93, P(trend) = 0.005) and lipid-unadjusted alpha-tocopherol (OR = 0.59, 95% CI = 0.37-0.94, P(trend) = 0.022). For all analytes, no heterogeneity of risk estimates or significant associations were observed by anatomical subsite. In the diffuse histological subtype, an inverse association was observed with the highest vs lowest quartile of lipid-unadjusted alpha-tocopherol (OR = 0.26, 95% CI = 0.11-0.65, P(trend) = 0.003). These results show that higher plasma concentrations of some carotenoids, retinol and alpha-tocopherol are associated with reduced risk of GC.
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| 4. |
- Kenna, Kevin P., et al.
(författare)
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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
- 2016
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 48:9, s. 1037-1042
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Tidskriftsartikel (refereegranskat)abstract
- To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a new screening strategy, we performed gene-burden analyses trained with established ALS genes and identified a significant association between loss-of-function (LOF) NEK1 variants and FALS risk. Independently, autozygosity mapping for an isolated community in the Netherlands identified a NEK1 p.Arg261 His variant as a candidate risk factor. Replication analyses of sporadic ALS (SALS) cases and independent control cohorts confirmed significant disease association for both p.Arg261 His (10,589 samples analyzed) and NEK1 LOF variants (3,362 samples analyzed). In total, we observed NEK1 risk variants in nearly 3% of ALS cases. NEK1 has been linked to several cellular functions, including cilia formation, DNA-damage response, microtubule stability, neuronal morphology and axonal polarity. Our results provide new and important insights into ALS etiopathogenesis and genetic etiology.
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| 5. |
- Majounie, Elisa, et al.
(författare)
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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
- 2012
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Ingår i: Lancet Neurology. - 1474-4465. ; 11:4, s. 323-330
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Tidskriftsartikel (refereegranskat)abstract
- Background We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Methods We screened 4448 patients diagnosed with ALS (El Escorial criteria) and 1425 patients with FTD (Lund-Manchester criteria) from 17 regions worldwide for the GGGGCC hexanucleotide expansion using a repeat-primed PCR assay. We assessed familial disease status on the basis of self-reported family history of similar neurodegenerative diseases at the time of sample collection. We compared haplotype data for 262 patients carrying the expansion with the known Finnish founder risk haplotype across the chromosomal locus. We calculated age-related penetrance using the Kaplan-Meier method with data for 603 individuals with the expansion. Findings In patients with sporadic ALS, we identified the repeat expansion in 236 (7.0%) of 3377 white individuals from the USA, Europe, and Australia, two (4.1%) of 49 black individuals from the USA, and six (8.3%) of 72 Hispanic individuals from the USA. The mutation was present in 217 (39.3%) of 552 white individuals with familial MS from Europe and the USA. 59 (6.0%) of 981 white Europeans with sporadic FTD had the mutation, as did 99 (24.8%) of 400 white Europeans with familial FTD. Data for other ethnic groups were sparse, but we identified one Asian patient with familial ALS (from 20 assessed) and two with familial FTD (from three assessed) who carried the mutation. The mutation was not carried by the three Native Americans or 360 patients from Asia or the Pacific Islands with sporadic MS who were tested, or by 41 Asian patients with sporadic FTD. All patients with the repeat expansion had (partly or fully) the founder haplotype, suggesting a one-off expansion occurring about 1500 years ago. The pathogenic expansion was non-penetrant in individuals younger than 35 years, 50% penetrant by 58 years, and almost fully penetrant by 80 years. Interpretation A common Mendelian genetic lesion in C9472 is implicated in many cases of sporadic and familial ALS and FTD. Testing for this pathogenic expansion should be considered in the management and genetic counselling of patients with these fatal neurodegenerative diseases.
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| 6. |
- Bergsmark, T., et al.
(författare)
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Long-term survival after liver transplantation for alcohol-related liver disease in the Nordic countries
- 2023
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Ingår i: Scandinavian Journal of Gastroenterology. - : Informa UK Limited. - 0036-5521 .- 1502-7708. ; 58:8, s. 923-30
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Tidskriftsartikel (refereegranskat)abstract
- ObjectivesAlcohol-related liver disease (ALD) is among the most common indications for liver transplantation (LTX) in Europe and North America, with good five-year survival rates post-LTX. Here we evaluated survival up to and beyond 20 years after LTX for patients with ALD compared to a comparison group.MethodsPatients with ALD and a comparison group transplanted in the Nordic countries between 1982 and 2020 were included. Data were analyzed using descriptive statistics, Kaplan-Meier curves and predictors of survival were assessed with Cox-regressions.Results831 patients with ALD and 2979 patients in the comparison group were included in the study. Patients with ALD were older at the time of LTX (p < .001) and more likely to be male (p < .001). The estimated median follow-up time was 9.1 years for the ALD-group and 11.1 years for the comparison group. 333 (40.1%) patients with ALD and 1010 (33.9%) patients in the comparison group died during follow-up. The overall survival was impaired for patients with ALD compared to the comparison group (p < .001) and was evident for male and female patients, patients transplanted before and after 2005, and observed in all age-groups except patients over 60 years. Age at transplant, waiting time, year of LTX and country of LTX were associated with decreased survival after LTX for patients with ALD.ConclusionsPatients with ALD have a decreased long-term survival following LTX. This difference was evident in most sub-groups of patients and warrants close follow-up of liver transplanted patients with ALD with focus on risk reduction.
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| 7. |
- Bhattarai, Biplabi, et al.
(författare)
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Influence of soil warming magnitude and duration on soluble sugar pool in fine roots and rhizomes of subarctic grasslands: Differences at species and plant community level adaptation
- 2024
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Ingår i: Plant Stress. - : Elsevier. - 2667-064X. ; 11
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Tidskriftsartikel (refereegranskat)abstract
- Subarctic regions are warming faster than other parts of the globe, and warming is expected to impact carbon (C) assimilation and its allocation into plant biomass and soluble sugars in plant tissues. We analyzed the concentration of soluble sugars (fructose, glucose, and sucrose) in fine roots and rhizomes for three dominant species: Anthoxanthum odoratum, Equisetum spp., and Ranunculus acris. We also examined the concentration and pool of soluble sugars at the plant community level with the aim to investigate the impact of soil warming duration [medium-term (11 years, MTW) vs. long-term (> 60 years, LTW)] and magnitude on soluble sugars in geothermally warmed subarctic grasslands. Among three species, R. acris exhibited the highest concentration of soluble sugars in both fine roots and rhizomes. Comparing total soluble sugar (TSS) between fine roots and rhizomes, rhizomes exhibited a higher concentration in A. odoratum and Equisetum. spp., whereas fine roots had a higher concentration in R. acris. Soil warming did not affect TSS in E. spp. and R. acris, while in A. odoratum, it increased TSS in fine roots and rhizomes in MTW and only in fine roots in LTW. At the plant community level in MTW, soil warming did not affect the soluble sugar concentration in fine roots. However, it increased the TSS and sucrose concentration in rhizomes, which positively correlated with the abundance of grasses. The TSS pool in fine roots decreased with soil warming in MTW, mainly due to a decline in fine root biomass that described 70 % of the decline in the TSS pool. Also, in LTW, soil warming decreased the TSS pool in fine roots, but 74 % of the decline was mainly driven by decreased soluble sugar concentration, specifically that of sucrose, and not by the change in fine root biomass. The decrease in sucrose concentration in fine roots in LTW was related to a decrease in the abundance of A. odoratum. We highlight the species-specific and organ-specific differences in soluble sugar concentration in subarctic grasslands. We observed elevated soluble sugars in A. odoratum's fine roots and rhizomes due to soil warming, while the overall community-level soluble sugar pool in fine roots decreased. We conclude that in warmed subarctic grasslands, the community-level soluble sugar pool in fine roots and rhizomes depends upon changes in biomass, soluble sugar concentration, and plant community structure.
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| 8. |
- Bhattarai, Biplabi, et al.
(författare)
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Soil warming duration and magnitude affect the dynamics of fine roots and rhizomes and associated C and N pools in subarctic grasslands
- 2023
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Ingår i: Annals of Botany. - : Oxford University Press. - 0305-7364 .- 1095-8290. ; 132:2, s. 269-279
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND AND AIMS: The response of subarctic grassland's below-ground to soil warming is key to understanding this ecosystem's adaptation to future climate. Functionally different below-ground plant organs can respond differently to changes in soil temperature (Ts). We aimed to understand the below-ground adaptation mechanisms by analysing the dynamics and chemistry of fine roots and rhizomes in relation to plant community composition and soil chemistry, along with the duration and magnitude of soil warming.METHODS: We investigated the effects of the duration [medium-term warming (MTW; 11 years) and long-term warming (LTW; > 60 years)] and magnitude (0-8.4 °C) of soil warming on below-ground plant biomass (BPB), fine root biomass (FRB) and rhizome biomass (RHB) in geothermally warmed subarctic grasslands. We evaluated the changes in BPB, FRB and RHB and the corresponding carbon (C) and nitrogen (N) pools in the context of ambient, Ts < +2 °C and Ts > +2 °C scenarios.KEY RESULTS: BPB decreased exponentially in response to an increase in Ts under MTW, whereas FRB declined under both MTW and LTW. The proportion of rhizomes increased and the C-N ratio in rhizomes decreased under LTW. The C and N pools in BPB in highly warmed plots under MTW were 50 % less than in the ambient plots, whereas under LTW, C and N pools in warmed plots were similar to those in non-warmed plots. Approximately 78 % of the variation in FRB, RHB, and C and N concentration and pools in fine roots and rhizomes was explained by the duration and magnitude of soil warming, soil chemistry, plant community functional composition, and above-ground biomass. Plant's below-ground biomass, chemistry and pools were related to a shift in the grassland's plant community composition - the abundance of ferns increased and BPB decreased towards higher Ts under MTW, while the recovery of below-ground C and N pools under LTW was related to a higher plant diversity.CONCLUSION: Our results indicate that plant community-level adaptation of below ground to soil warming occurs over long periods. We provide insight into the potential adaptation phases of subarctic grasslands.
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| 9. |
- Bufano, Filomena, et al.
(författare)
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THE HIGHLY ENERGETIC EXPANSION OF SN 2010bh ASSOCIATED WITH GRB 100316D
- 2012
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Ingår i: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 753:1, s. 67-
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Tidskriftsartikel (refereegranskat)abstract
- We present the spectroscopic and photometric evolution of the nearby (z = 0.059) spectroscopically confirmed Type Ic supernova, SN 2010bh, associated with the soft, long-duration gamma-ray burst (X-ray flash) GRB 100316D. Intensive follow-up observations of SN 2010bh were performed at the ESO Very Large Telescope (VLT) using the X-shooter and FORS2 instruments. Thanks to the detailed temporal coverage and the extended wavelength range (3000-24800 angstrom), we obtained an unprecedentedly rich spectral sequence among the hypernovae, making SN 2010bh one of the best studied representatives of this SN class. We find that SN 2010bh has a more rapid rise to maximum brightness (8.0 +/- 1.0 rest-frame days) and a fainter absolute peak luminosity (L-bol approximate to 3 x 10(42) erg s(-1)) than previously observed SN events associated with GRBs. Our estimate of the ejected Ni-56 mass is 0.12 +/- 0.02 M-circle dot. From the broad spectral features, we measure expansion velocities up to 47,000 km s(-1), higher than those of SNe 1998bw (GRB 980425) and 2006aj (GRB 060218). Helium absorption lines He I lambda 5876 and He I 1.083 mu m, blueshifted by similar to 20,000-30,000 km s(-1) and similar to 28,000-38,000 km s(-1), respectively, may be present in the optical spectra. However, the lack of coverage of the He I 2.058 mu m line prevents us from confirming such identifications. The nebular spectrum, taken at similar to 186 days after the explosion, shows a broad but faint [O I] emission at 6340 angstrom. The light curve shape and photospheric expansion velocities of SN 2010bh suggest that we witnessed a highly energetic explosion with a small ejected mass (E-k approximate to 10(52) erg and M-ej approximate to 3 M-circle dot). The observed properties of SN 2010bh further extend the heterogeneity of the class of GRB SNe.
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| 10. |
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