| 1. |
- Marouli, Eirini, et al.
(författare)
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Rare and low-frequency coding variants alter human adult height
- 2017
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 542:7640, s. 186-190
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Tidskriftsartikel (refereegranskat)abstract
- Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.
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| 2. |
- Alanärä, Anders, et al.
(författare)
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Utsättning av djur för jakt och fiske
- 2021
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Bok (populärvet., debatt m.m.)abstract
- SLUs vetenskapliga råd för djurskydd har fått i uppdrag av Jordbruksverket att sammanställa aktuell forskning kring utsättning av djur för jakt och fiske samt att belysa eventuella kunskapsluckor på området. Uppdraget omfattar gräsand, rapphöna, fasan och laxfiskar. Bruket att föda upp fåglar och fiskar för utsättning i syfte att gynna jakt och fiske ifrågasätts inte sällan av etiska skäl, men den diskussionen ligger utanför fokus för denna rapport. Utsättning av fågel och fisk är en antropogen verksamhet som, till skillnad från många andra typer av mänsklig påverkan, syftar till att gynna arterna i fråga. Det kan handla om naturvårdsinsatser, att återinföra försvunna arter eller att på andra sätt berika ekosystemet, inte sällan med ökade möjligheter till jakt eller fiske som slutändamål. Ofta förbereds och åtföljs utsättningar av habitatförbättrande åtgärder som inte endast gynnar de utsatta individerna och deras artfränder, utan även har positiva konsekvenser för biologisk mångfald och ekosystemet i stort. I utarbetandet av regelverket knutet till utsättning av fågel och fisk är det viktigt att även beakta de positiva föresatserna och de konsekvenser som verksamheten kan medföra. Annars riskerar man att engagemang och incitament förloras, till men för biologisk mångfald och en rik och levande landsbygd.
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| 3. |
- Almström, Peter, 1972, et al.
(författare)
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Improving productivity 192% by combining flow- and resource efficiency
- 2016
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Ingår i: Swedish Production Symposium 25-27 October 2016, Lund.
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Konferensbidrag (refereegranskat)abstract
- Radical productivity improvements on shop-floor level are not hard to achieve if the right production engineering tools are used to see them. In this article is work analysed using motion and time studies with video. A new design is proposed by using MTM-SAM (Methods Time Measurement -Sequential Activity and Methods analysis) combined with simple methods for layout planning, to achieve simultaneous flow- and resource efficiency. The case company is an electronics manufacturer and a productivity increase of 192% is achieved in one of its departments for manual assembly and testing. The solution is partly tested by letting the operators test the new work methods. The scientific contribution of this article is the verification of the theory in the Lean production literature about flow- and resource efficiency. The practical contribution is obviously the radical improvement result that is generalizable to other industries since generic production engineering methods are used.
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| 4. |
- Andersson, Anastasia, et al.
(författare)
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Complex genetic diversity patterns of cryptic, sympatric brown trout (Salmo trutta) populations in tiny mountain lakes
- 2017
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Ingår i: Conservation Genetics. - : Springer Science and Business Media LLC. - 1566-0621 .- 1572-9737. ; 18:5, s. 1213-1227
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Tidskriftsartikel (refereegranskat)abstract
- Intraspecific genetic variation can have similar effects as species diversity on ecosystem function; understanding such variation is important, particularly for ecological key species. The brown trout plays central roles in many northern freshwater ecosystems, and several cases of sympatric brown trout populations have been detected in freshwater lakes based on apparent morphological differences. In some rare cases, sympatric, genetically distinct populations lacking visible phenotypic differences have been detected based on genetic data alone. Detecting such cryptic sympatric populations without prior grouping of individuals based on phenotypic characteristics is more difficult statistically, though. The aim of the present study is to delineate the spatial connectivity of two cryptic, sympatric genetic clusters of brown trout discovered in two interconnected, tiny subarctic Swedish lakes. The structures were detected using allozyme markers, and have been monitored over time. Here, we confirm their existence for almost three decades and report that these cryptic, sympatric populations exhibit very different connectivity patterns to brown trout of nearby lakes. One of the clusters is relatively isolated while the other one shows high genetic similarity to downstream populations. There are indications of different spawning sites as reflected in genetic structuring among parr from different creeks. We used > 3000 SNPs on a subsample and find that the SNPs largely confirm the allozyme pattern but give considerably lower F (ST) values, and potentially indicate further structuring within populations. This type of complex genetic substructuring over microgeographical scales might be more common than anticipated and needs to be considered in conservation management.
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| 5. |
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| 6. |
- Andersson, Ulf Bertil, et al.
(författare)
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Emendment to the term complex in: “Guide for geological nomenclature in Sweden” (Kumpulainen 2016)
- 2022
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Ingår i: GFF. - : Taylor & Francis. - 1103-5897 .- 2000-0863. ; 144:3-4, s. 151-151
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Since the publication of Kumpulainen (2016), the Committeehave been alerted by the investigation and subsequent changesto the North American Stratigraphic Code concerning thelithodemic unit“complex”(Easton et al.2016; North Ameri-can Commission on Stratigraphic Nomenclature (NACSN)2017). These changes concern the introduction of the nomen-clature unit“Intrusive Complex”. In the original version(NACSN1983), as well as in the Swedish Guide for nomencla-ture (Kumpulainen2016), the unit“complex”is defined ascontaining at least two genetic classes of rocks, i.e., igneous,sedimentary, or metamorphic.
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| 7. |
- Anesten, Fredrik, et al.
(författare)
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Glucagon-Like Peptide-1-, but not Growth and Differentiation Factor 15-, Receptor Activation Increases the Number of Interleukin-6-Expressing Cells in the External Lateral Parabrachial Nucleus
- 2019
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Ingår i: Neuroendocrinology. - : S. Karger AG. - 0028-3835 .- 1423-0194. ; 109:4, s. 310-321
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Tidskriftsartikel (refereegranskat)abstract
- Interleukin (IL)-6 in the hypothalamus and hindbrain is an important downstream mediator of suppression of body weight and food intake by glucagon-like peptide-1 (GLP-1) receptor stimulation. CNS GLP-1 is produced almost exclusively in prepro-glucagon neurons in the nucleus of the solitary tract. These neurons innervate energy balance-regulating areas, such as the external lateral parabrachial nucleus (PBNel); essential for induction of anorexia. Using a validated novel IL-6-reporter mouse strain, we investigated the interactions in PBNel between GLP-1, IL-6, and calcitonin gene-related peptide (CGRP, a well-known mediator of anorexia). We show that PBNel GLP-1R-containing cells highly (to about 80%) overlap with IL-6-containing cells on both protein and mRNA level. Intraperitoneal administration of a GLP-1 analogue exendin-4 to mice increased the proportion of IL-6-containing cells in PBNel 3-fold, while there was no effect in the rest of the lateral parabrachial nucleus. In contrast, injections of an anorexigenic peptide growth and differentiation factor 15 (GDF15) markedly increased the proportion of CGRP-containing cells, while IL-6-containing cells were not affected. In summary, GLP-1R are found on IL-6-producing cells in PBNel, and GLP-1R stimulation leads to an increase in the proportion of cells with IL-6-reporter fluorescence, supporting IL-6 mediation of GLP-1 effects on energy balance.
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| 8. |
- Backman, Helena, et al.
(författare)
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Decreased COPD prevalence in Sweden after decades of decrease in smoking
- 2020
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Ingår i: Respiratory Research. - : Springer Nature. - 1465-9921 .- 1465-993X. ; 21
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundCOPD has increased in prevalence worldwide over several decades until the first decade after the millennium shift. Evidence from a few recent population studies indicate that the prevalence may be levelling or even decreasing in some areas in Europe. Since the 1970s, a substantial and ongoing decrease in smoking prevalence has been observed in several European countries including Sweden. The aim of the current study was to estimate the prevalence, characteristics and risk factors for COPD in the Swedish general population. A further aim was to estimate the prevalence trend of COPD in Northern Sweden from 1994 to 2009.MethodsTwo large random population samples were invited to spirometry with bronchodilator testing and structured interviews in 2009–2012, one in south-western and one in northern Sweden, n = 1839 participants in total. The results from northern Sweden were compared to a study performed 15 years earlier in the same area and age-span. The diagnosis of COPD required both chronic airway obstruction (CAO) and the presence of respiratory symptoms, in line with the GOLD documents since 2017. CAO was defined as post-bronchodilator FEV1/FVC < 0.70, with sensitivity analyses based on the FEV1/FVC < lower limit of normal (LLN) criterion.ResultsBased on the fixed ratio definition, the prevalence of COPD was 7.0% (men 8.3%; women 5.8%) in 2009–2012. The prevalence of moderate to severe (GOLD ≥ 2) COPD was 3.5%. The LLN based results were about 30% lower. Smoking, occupational exposures, and older age were risk factors for COPD, whereof smoking was the most dominating risk factor. In northern Sweden the prevalence of COPD, particularly moderate to severe COPD, decreased significantly from 1994 to 2009, and the decrease followed a decrease in smoking.ConclusionsThe prevalence of COPD has decreased in Sweden, and the prevalence of moderate to severe COPD was particularly low. The decrease follows a major decrease in smoking prevalence over several decades, but smoking remained the dominating risk factor for COPD.
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| 9. |
- Barman, Linda, 1972-, et al.
(författare)
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Interactions in online discussion forums - an underutilized resource for learning?
- 2019
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Ingår i: 2019 IEEE Frontiers in Education Conference (FIE). - Covington, KY, USA : Institute of Electrical and Electronics Engineers (IEEE). ; , s. 1-5
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Konferensbidrag (refereegranskat)abstract
- This work-in progress research paper addresses how the discussion forums in online courses are made useful to promote students' learning. This qualitative study investigates the interactions between learners, as well as between learners and teachers in MOOCs. Community of Inquiry was used as an analytical framework to unveil how the discussions made in the online environment may connect to the course participants' learning processes. Preliminary findings indicate that the interactions taking place in the discussion forums primarily concerns issues regarding course structure. Very few posts concern challenging reasoning or, conversations that may support learners to deepen their understanding of the subject matter at hand.
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| 10. |
- Barman, Linda, 1972-, et al.
(författare)
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Reframing the design for learning in MOOCs
- 2019
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Ingår i: 2019 IEEE Frontiers in Education Conference (FIE). - Covington, KY, USA : Institute of Electrical and Electronics Engineers (IEEE).
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Konferensbidrag (refereegranskat)abstract
- In this research to practice paper we report on a framework for learning design useful to identify expertise that is needed when creating courses in digital environments, such as MOOCs (Massive Open Online Courses). The framework is based on research emphasizing active and meaningful learning, variation in activities and, feedback. Five different domains of course design for online learning is included in the framework; 1) overall course design, 2) platform possibilities, 3) learning activities, 4) videos, and the design of 5) graded assignments. Each of these domains is associated with certain knowledge and expertise. Applying the framework suggested here can help learning designers and teachers in making purposeful choices and prioritize resources to further enhance student learning.
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