| 1. |
- Nilsson, Malin, et al.
(författare)
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Bomullssvälten
- 2023
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Ingår i: Bildningsboxen 2. - 9789113128597 ; 2
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 2. |
- Wu, Chuanyan, et al.
(författare)
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Elevated circulating follistatin associates with an increased risk of type 2 diabetes
- 2021
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12, s. 1-10
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Tidskriftsartikel (refereegranskat)abstract
- The hepatokine follistatin is elevated in patients with type 2 diabetes (T2D) and promotes hyperglycemia in mice. Here we explore the relationship of plasma follistatin levels with incident T2D and mechanisms involved. Adjusted hazard ratio (HR) per standard deviation (SD) increase in follistatin levels for T2D is 1.24 (CI: 1.04-1.47, p < 0.05) during 19-year follow-up (n = 4060, Sweden); and 1.31 (CI: 1.09-1.58, p < 0.01) during 4-year follow-up (n = 883, Finland). High circulating follistatin associates with adipose tissue insulin resistance and non-alcoholic fatty liver disease (n = 210, Germany). In human adipocytes, follistatin dose-dependently increases free fatty acid release. In genome-wide association study (GWAS), variation in the glucokinase regulatory protein gene (GCKR) associates with plasma follistatin levels (n = 4239, Sweden; n = 885, UK, Italy and Sweden) and GCKR regulates follistatin secretion in hepatocytes in vitro. Our findings suggest that GCKR regulates follistatin secretion and that elevated circulating follistatin associates with an increased risk of T2D by inducing adipose tissue insulin resistance.
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| 3. |
- Beekman, Jan, et al.
(författare)
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Long-term population trends and shifts in distribution of Bewick's swans cygnus columbianus bewickii wintering in northwest Europe
- 2020
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Ingår i: Wildfowl. - 0954-6324. ; :69, s. 73-102
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Tidskriftsartikel (refereegranskat)abstract
- Coordinated international censuses of the Northwest European Bewick's Swan Cygnus columbianus bewickii population have been undertaken across the swans' wintering range at c. 5-year intervals since 1984. During the early years of the study, numbers increased steadily to a peak of 29,780 individuals in January 1995, but then declined by 39.4% to 18,057 swans counted in January 2010 before showing a partial recovery to 20,149 recorded in January 2015. Changes in distribution across the wintering range were also recorded; a higher proportion of the population now remains in more easterly countries (notably Germany) in mid-winter, whilst only a handful of birds migrated to Ireland (at the western edge of the range) during the 2000s compared to >1,000 wintering there at the start of the study. Variation between censuses in the proportion of swans recorded in different parts of the range were attributable to weather conditions, with more swans wintering further north in warmer years. The overall percentage of cygnets recorded in each of the census years ranged from 9.6% in 2010 to 13.2% in 2005, with no obvious consistency over time in the distribution of cygnets across the wintering range. There were however changes between 1990 and 2015 in the swans' use of feeding habitats, with a decline in the proportion of birds on pasture and a corresponding increase in those on arable land. Decreases in the total population size and changes in distribution in the 21st century have implications for the designation and resultant protection of sites of international importance for the species.
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| 4. |
- Bennet, Louise, et al.
(författare)
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Adult-onset diabetes in Middle Eastern immigrants to Sweden : Novel subgroups and diabetic complications—The All New Diabetes in Scania cohort diabetic complications and ethnicity
- 2021
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Ingår i: Diabetes/Metabolism Research and Reviews. - : Wiley. - 1520-7552 .- 1520-7560. ; 37:6
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Tidskriftsartikel (refereegranskat)abstract
- Background: Middle Eastern immigrants to Europe represent a high risk population for type 2 diabetes. We compared prevalence of novel subgroups and assessed risk of diabetic macro- and microvascular complications between diabetes patients of Middle Eastern and European origin. Methods: This study included newly diagnosed diabetes patients born in Sweden (N = 10641) or Iraq (N = 286), previously included in the All New Diabetes in Scania cohort. The study was conducted between January 2008 and August 2016. Patients were followed to April 2017. Incidence rates in diabetic macro- and microvascular complications were assessed using cox-regression adjusting for the confounding effect of age at onset, sex, anthropometrics, glomerular filtration rate (eGFR) and HbA1c. Findings: In Iraqi immigrants versus native Swedes, severe insulin-deficient diabetes was almost twice as common (27.9 vs. 16.2% p < 0.001) but severe insulin-resistant diabetes was less prevalent. Patients born in Iraq had higher risk of coronary events (hazard ratio [HR] 1.84, 95% CI 1.06–3.12) but considerably lower risk of chronic kidney disease (CKD) than Swedes (HR 0.19; 0.05–0.76). The lower risk in Iraqi immigrants was partially attributed to better eGFR. Genetic risk scores (GRS) showed more genetic variants associated with poor insulin secretion but lower risk of insulin resistance in the Iraqi than native Swedish group. Interpretation: People with diabetes, born in the Middle East present with a more insulin-deficient phenotype and genotype than native Swedes. They have a higher risk of coronary events but lower risk of CKD. Ethnic differences should be considered in the preventive work towards diabetes and its complications.
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| 5. |
- Berríos-Negrón, Luis, 1971-
(författare)
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Breathtaking Greenhouse Parastructures : a supplement to the Arcades Project from a Caribbean Perspective [and a call for a careful practice of epistemológica].
- 2020
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Konstnärligt arbete (övrigt vetenskapligt/konstnärligt)abstract
- Breathtaking Greenhouse Parastructures is a doctoral work that supplements the unfinished modern opus The Arcades Project [in German Das Passagen-Werk (Mit Bindestrich und Werk mit Capital W) ]. The supplement takes the form of a sculptural, historical, and technological deposition of ‘greenhouse’ that presently oscillates between a past-background and future-foreground to Walter Benjamin's ‘theatrical’ handling of the Parisian arcades. From my Caribbean perspective, that oscillating treatment of ‘greenhouse’ affords me a prop from which to activate the following question: is colonial memory the drive of Global Warming? That core question has led me to retrospectively hypothesise that the technology of ‘greenhouse’ is—beyond metaphor—the illusory (dis)embodiment of the toxic binaries of interior & exterior that are still shaping various influential frameworks such as the modern & Marxian ideas of superstructure, as well as the past & future of Western natural sciences (and their histories). Because of that illusory, spectral, if paranormal power, ‘greenhouse’ becomes at once the Western colonial enframing to both the messianic promise for conserving biological history, as well as the messianic remedy to suppress the traumæ that are destining Global Warming. Also, because of that potent (dis)embodied character, the robust analysis of the manifold instrumentalisation of ‘greenhouse’ is set to play a primary role in deposing the geological timeline of the Anthropocene. Now, while the book-supplement is itself the dissertation (as an unpacking of the aforementioned hypothetical findings), the PhD also relies on two other research devices that are worth mentioning: an installation (titled Anarquivo Negantrópico), and an online journal (titled Intransitive Journal). Altogether, the dissertation offers a field from which to asses my broader experimentation with infrastructures, epistemic things, and social pedestals. Moreover, the dissertation revises the so-called forgotten list of ‘Epistemologica’ (the categorical of Western display preparations and phenomenotechnologies) so to format my study and practice into an adaptable, careful, and differentiated kind of epistemológica…a careful study and practice that we may share as object-relations that proportionately (dis)play more-than-human perspectives for (re)mediating the forms and forces of the climate crises.
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| 6. |
- Cai, Lina, et al.
(författare)
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Genome-wide association analysis of type 2 diabetes in the EPIC-InterAct study
- 2020
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Ingår i: Scientific Data. - : Nature Publishing Group. - 2052-4463. ; 7:1
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Tidskriftsartikel (refereegranskat)abstract
- Type 2 diabetes (T2D) is a global public health challenge. Whilst the advent of genome-wide association studies has identified >400 genetic variants associated with T2D, our understanding of its biological mechanisms and translational insights is still limited. The EPIC-InterAct project, centred in 8 countries in the European Prospective Investigations into Cancer and Nutrition study, is one of the largest prospective studies of T2D. Established as a nested case-cohort study to investigate the interplay between genetic and lifestyle behavioural factors on the risk of T2D, a total of 12,403 individuals were identified as incident T2D cases, and a representative sub-cohort of 16,154 individuals was selected from a larger cohort of 340,234 participants with a follow-up time of 3.99 million person-years. We describe the results from a genome-wide association analysis between more than 8.9 million SNPs and T2D risk among 22,326 individuals (9,978 cases and 12,348 non-cases) from the EPIC-InterAct study. The summary statistics to be shared provide a valuable resource to facilitate further investigations into the genetics of T2D.
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| 7. |
- Collins, Ryan, et al.
(författare)
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A structural variation reference for medical and population genetics
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 581, s. 444-451
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Tidskriftsartikel (refereegranskat)abstract
- Structural variants (SVs) rearrange large segments of DNA1 and can have profound consequences in evolution and human disease2,3. As national biobanks, disease-association studies, and clinical genetic testing have grown increasingly reliant on genome sequencing, population references such as the Genome Aggregation Database (gnomAD)4 have become integral in the interpretation of single-nucleotide variants (SNVs)5. However, there are no reference maps of SVs from high-coverage genome sequencing comparable to those for SNVs. Here we present a reference of sequence-resolved SVs constructed from 14,891 genomes across diverse global populations (54% non-European) in gnomAD. We discovered a rich and complex landscape of 433,371 SVs, from which we estimate that SVs are responsible for 25–29% of all rare protein-truncating events per genome. We found strong correlations between natural selection against damaging SNVs and rare SVs that disrupt or duplicate protein-coding sequence, which suggests that genes that are highly intolerant to loss-of-function are also sensitive to increased dosage6. We also uncovered modest selection against noncoding SVs in cis-regulatory elements, although selection against protein-truncating SVs was stronger than all noncoding effects. Finally, we identified very large (over one megabase), rare SVs in 3.9% of samples, and estimate that 0.13% of individuals may carry an SV that meets the existing criteria for clinically important incidental findings7. This SV resource is freely distributed via the gnomAD browser8 and will have broad utility in population genetics, disease-association studies, and diagnostic screening.
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| 8. |
- Cronhjort, Mikael, et al.
(författare)
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Nationellt erfarenhetsutbyte och utmaningar för civilingenjörsutbildning
- 2020
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Ingår i: Proceedings of 7:e Utvecklingskonferensen för Sveriges ingenjörsutbildningar. ; , s. 231-232
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Konferensbidrag (refereegranskat)abstract
- Vi vill i en workshop identifiera behovoch intresse för att bilda ett nätverk för civilingenjörsutbildningar i Sverige. Vi tror att det kan finnas ett behov av etteget forum för att diskutera utmaningar som är specifika förcivilingenjörsutbildningar. Vi presenterar här några förslag påområden som vi på KTH tror att kan vara intressanta att ta uppi ett sådant nätverk, men vi är mycket intresserade av att läraoss om vilka utmaningar som uppfattas som intressanta ochviktiga på andra lärosäten.
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| 9. |
- Cummings, Beryl B., et al.
(författare)
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Transcript expression-aware annotation improves rare variant interpretation
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 581, s. 452-458
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Tidskriftsartikel (refereegranskat)abstract
- The acceleration of DNA sequencing in samples from patients and population studies has resulted in extensive catalogues of human genetic variation, but the interpretation of rare genetic variants remains problematic. A notable example of this challenge is the existence of disruptive variants in dosage-sensitive disease genes, even in apparently healthy individuals. Here, by manual curation of putative loss-of-function (pLoF) variants in haploinsufficient disease genes in the Genome Aggregation Database (gnomAD)1, we show that one explanation for this paradox involves alternative splicing of mRNA, which allows exons of a gene to be expressed at varying levels across different cell types. Currently, no existing annotation tool systematically incorporates information about exon expression into the interpretation of variants. We develop a transcript-level annotation metric known as the ‘proportion expressed across transcripts’, which quantifies isoform expression for variants. We calculate this metric using 11,706 tissue samples from the Genotype Tissue Expression (GTEx) project2 and show that it can differentiate between weakly and highly evolutionarily conserved exons, a proxy for functional importance. We demonstrate that expression-based annotation selectively filters 22.8% of falsely annotated pLoF variants found in haploinsufficient disease genes in gnomAD, while removing less than 4% of high-confidence pathogenic variants in the same genes. Finally, we apply our expression filter to the analysis of de novo variants in patients with autism spectrum disorder and intellectual disability or developmental disorders to show that pLoF variants in weakly expressed regions have similar effect sizes to those of synonymous variants, whereas pLoF variants in highly expressed exons are most strongly enriched among cases. Our annotation is fast, flexible and generalizable, making it possible for any variant file to be annotated with any isoform expression dataset, and will be valuable for the genetic diagnosis of rare diseases, the analysis of rare variant burden in complex disorders, and the curation and prioritization of variants in recall-by-genotype studies.
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| 10. |
- Enström, Johanna
(författare)
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A Systems View of Advancements in Biomass Supply Chains
- 2022
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Licentiatavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Forest fuel is an important source of energy with potential for increased use in the Nordic countries. Profitable forest operations are dependent on logistics as the forest is a natural resource with varying conditions over widespread areas. In comparison to saw log and pulp wood supply, forest fuel supply has to face challenges like low product value, seasonality and irregularity of customer demand, low bulk density and the need to process the biomass prior to delivery. In order to utilize both the economic potential and societal benefits from replacing fossil-based fuels with renewable forest fuels these challenges must be managed. This requires efficient long distance transports, with changes of transport mode typically required.This thesis examines preconditions necessary for logistic planning to achieve cost and energy efficient long distance transports within supply chains for forest fuel. The thesis has an explorative approach, including both qualitative and quantitative techniques. Paper I provides a review of the development within forestry logistics in Sweden and Finland since the beginning of the century, with focus on transports, terminal usage and storage related aspects. Paper II uses qualitative interviews to deepen the understanding of a specific forest fuel supply chain by focusing on communications and relations between the actors. Paper III is a study of the influence of a terminal before maritime transport of wood chips using simulation. Paper I shows that forestry logistics faces challenges, primarily related to increased variations in field conditions caused by climate change. The importance of terminal storage for the supply of forest products will likely increase as an effect. Also the entrepreneurs interviewed in Paper II stressed the benefits of terminals in the supply chain, e.g. enhanced planning opportunities and a more even workflow over the year. Paper III puts cost for extra terminal handling in relation to storage costs in a port and demonstrates the importance of including variation in logistic planning. The terminal flows were not profitable in the case of a small port. In order to make a well-founded decision gains in other parts of the supply chain must also be considered, even when they are harder to quantify. This deserves attention in future research.
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