| 1. |
- Ahlberg, Erik, et al.
(author)
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"Vi klimatforskare stödjer Greta och skolungdomarna"
- 2019
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In: Dagens nyheter (DN debatt). - 1101-2447.
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Journal article (pop. science, debate, etc.)abstract
- DN DEBATT 15/3. Sedan industrialiseringens början har vi använt omkring fyra femtedelar av den mängd fossilt kol som får förbrännas för att vi ska klara Parisavtalet. Vi har bara en femtedel kvar och det är bråttom att kraftigt reducera utsläppen. Det har Greta Thunberg och de strejkande ungdomarna förstått. Därför stödjer vi deras krav, skriver 270 klimatforskare.
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| 2. |
- Marouli, Eirini, et al.
(author)
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Rare and low-frequency coding variants alter human adult height
- 2017
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 542:7640, s. 186-190
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Journal article (peer-reviewed)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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| 3. |
- Turcot, Valerie, et al.
(author)
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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
- 2018
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In: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 50:1, s. 26-41
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Journal article (peer-reviewed)abstract
- Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are similar to 10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed similar to 7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.
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| 4. |
- Andreasson, Rebecca, et al.
(author)
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Past and Future Challenges for Railway Research and the Role of a Systems Perspective
- 2019
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In: Proceedings of the 20th Congress of the International Ergonomics Association (IEA 2018). - Cham : Springer. - 9783319960708 - 9783319960715 ; , s. 1737-1746
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Book chapter (peer-reviewed)abstract
- Operational train traffic is dependent on an efficient traffic plan monitored and executed by the traffic controllers, the proficient maneuvering of the trains by the train drivers, and on the interaction, communication, and coordination between these two work roles. The railway research community, and the branch of industry itself, has called for an integrated systems perspective for the whole train traffic system to achieve an efficient performance. As human-human and human-technology interactions are natural parts of the socio-technical system of train traffic, the aim of this paper is to provide illustrative examples for why a systems perspective is needed for the future of railway research. Furthermore, we present the theoretical framework of distributed cognition (DCog) as a necessary addition to the theoretical and methodological toolbox of the Human Factors and Ergonomics (HF&E) discipline. To realize efficient and coordinated processes involved in organizing and executing operational train traffic, the paper proposes that the DCog framework should be implemented in the train traffic domain as a viable approach forward.
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| 5. |
- Andreasson, Rebecca, et al.
(author)
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The coordination between train traffic controllers and train drivers : a distributed cognition perspective on railway
- 2019
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In: Cognition, Technology & Work. - : Springer Science and Business Media LLC. - 1435-5558 .- 1435-5566. ; 21:3, s. 417-443
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Journal article (peer-reviewed)abstract
- Although there has long been a call for a holistic systems perspective to better understand real work in the complex domain of railway traffic, prior research has not strongly emphasised the socio-technical perspective. In operational railway traffic, the successful planning and execution of the traffic are the product of the socio-technical system comprised by both train drivers and traffic controllers. This paper presents a study inspired by cognitive ethnography with the aim to characterise the coordinating activities that are conducted by train traffic controllers and train drivers in the work practices of the socio-technical system of Swedish railway. The theoretical framework of distributed cognition (DCog) is used as a conceptual and analytical tool to make sense of the complex railway domain and the best practices as they are developed and performed “in the wild”. The analysis reveals a pattern of collaboration and coordination of actions among the workers and we introduce the concept of enacted actionable practices as a key concern for understanding how a successfully executed railway traffic emerges as a property of the socio-technical system. The implications for future railway research are briefly discussed.
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| 6. |
- Dawson, Michael N., et al.
(author)
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A second horizon scan of biogeography: Golden ages, Midas touches, and the Red Queen
- 2016
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In: Frontiers of Biogeography. - : University of California. - 1948-6596. ; 8:4
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Journal article (peer-reviewed)abstract
- Are we entering a new 'Golden Age' of biogeography, with continued development of infrastructure and ideas? We highlight recent developments, and the challenges and opportunities they bring, in light of the snapshot provided by the 7th biennial meeting of the International Biogeography Society (IBS 2015). We summarize themes in and across 15 symposia using narrative analysis and word clouds, which we complement with recent publication trends and 'research fronts'. We find that biogeography is still strongly defined by core sub-disciplines that reflect its origins in botanical, zoological (particularly bird and mammal), and geographic (e.g., island, montane) studies of the 1800s. That core is being enriched by large datasets (e.g. of environmental variables, 'omics', species' occurrences, traits) and new techniques (e.g., advances in genetics, remote sensing, modeling) that promote studies with increasing detail and at increasing scales; disciplinary breadth is being diversified (e.g., by developments in paleobiogeography and microbiology) and integrated through the transfer of approaches and sharing of theory (e.g., spatial modeling and phylogenetics in evolutionary-ecological contexts). Yet some subdisciplines remain on the fringe (e.g., marine biogeography, deep-time paleobiogeography), new horizons and new theory may be overshadowed by popular techniques (e.g., species distribution modelling), and hypotheses, data, and analyses may each be wanting. Trends in publication suggest a shift away from traditional biogeography journals to multidisciplinary or open access journals. Thus, there are currently many opportunities and challenges as biogeography increasingly addresses human impacts on, and stewardship of, the planet (e.g., Intergovernmental Science-Policy Platform on Biodiversity and Ecosystem Services). As in the past, biogeographers doubtless will continue to be engaged by new data and methods in exploring the nexus between biology and geography for decades into the future. But golden ages come and go, and they need not touch every domain in a discipline nor affect subdisciplines at the same time; moreover, what appears to be a Golden Age may sometimes have an undesirable 'Midas touch'. Contexts within and outwith biogeography-e.g., methods, knowledge, climate, biodiversity, politics-are continually changing, and at times it can be challenging to establish or maintain relevance. In so many races with the Red Queen, we suggest that biogeography will enjoy greatest success if we also increasingly engage with the epistemology of our discipline.
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| 7. |
- Jansson, Samuel, et al.
(author)
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Correlation of mosquito wing-beat harmonics to aid in species classification and flight heading assessment
- 2019
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In: Novel Biophotonics Techniques and Applications V. - : SPIE. - 1605-7422 .- 2410-9045. - 9781510628434 ; 20:60
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Conference paper (peer-reviewed)abstract
- Surveying disease vectors is currently excessively laborious for continuous and widespread monitoring. Wing beat modulation spectroscopy gives opportunity for species and sex recognition in electronic traps or mosquito target classification in lidar. We used a polarimetric dual-wavelength-band laboratory system to record kHz modulated backscattered light from insects. The system operates in the near and short-wave infrared at 808 nm and 1550 nm and retrieves both co- and depolarized light. Here we give clues on the harmonic content and covariance of four mosquito species and fruit flies. Further, we interpret the interdependence of harmonic strengths when insects transit the probe volume with random heading direction and provide correlation matrices for coherent and incoherent light. Using the obtained parameters, we demonstrate that species that are difficult to distinguish with microscope can be classified with high accuracy. The results are valuable for understanding wingbeat harmonics in relation to heading and valuable for optimal sensor design for disease vector surveillance.
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| 8. |
- Johansson, Ellen, et al.
(author)
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Revising the embryonic origin of thyroid C cells in mice and humans
- 2015
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In: Development (Cambridge, England). - : The Company of Biologists. - 1477-9129 .- 0950-1991. ; 142:20, s. 3519-3528
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Journal article (peer-reviewed)abstract
- Current understanding infers a neural crest origin of thyroid C cells, the major source of calcitonin in mammals and ancestors to neuroendocrine thyroid tumors. The concept is primarily based on investigations in quail-chick chimeras involving fate-mapping of neural crest cells to the ultimobranchial glands that regulate Ca(2+) homeostasis in birds, reptiles, amphibians and fishes, but whether mammalian C cell development implicates a homologous ontogenetic trajectory has not been experimentally verified. With lineage tracing we now provide direct evidence that Sox17+ anterior endoderm is the only source of differentiated C cells and their progenitors in mice. In similarity with many gut endoderm derivatives embryonic C cells were found to co-express pioneer factors forkhead box (Fox) a1 and Foxa2 before neuroendocrine differentiation takes place. In the ultimobranchial body epithelium emerging from pharyngeal pouch endoderm in early organogenesis differential Foxa1/Foxa2 expression distinguished two spatially separated pools of C cell precursors with different growth properties. A similar expression pattern was recapitulated in medullary thyroid carcinoma cells in vivo consistent with a growth-promoting role of Foxa1. Contrasting embryonic precursor cells, C cell-derived tumor cells invading the stromal compartment down-regulated Foxa2 foregoing epithelial-mesenchymal transition designated by loss of E-cadherin; both Foxa2 and E-cadherin were re-expressed at metastatic sites. These findings revise mammalian C cell ontogeny, expand the neuroendocrine repertoire of endoderm, and redefine the boundaries of neural crest diversification. The data further underpin distinct functions of Foxa1 and Foxa2 in both embryonic and tumor development.
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| 9. |
- Nicolas, Aude, et al.
(author)
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
- 2018
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In: Neuron. - : Cell Press. - 0896-6273 .- 1097-4199. ; 97:6, s. 1268-1283.e6
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Journal article (peer-reviewed)abstract
- To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.
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| 10. |
- Paige, Ellie, et al.
(author)
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Use of Repeated Blood Pressure and Cholesterol Measurements to Improve Cardiovascular Disease Risk Prediction : An Individual-Participant-Data Meta-Analysis
- 2017
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In: American Journal of Epidemiology. - : Oxford University Press. - 0002-9262 .- 1476-6256. ; 186:8, s. 899-907
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Research review (peer-reviewed)abstract
- The added value of incorporating information from repeated blood pressure and cholesterol measurements to predict cardiovascular disease (CVD) risk has not been rigorously assessed. We used data on 191,445 adults from the Emerging Risk Factors Collaboration (38 cohorts from 17 countries with data encompassing 1962-2014) with more than 1 million measurements of systolic blood pressure, total cholesterol, and high-density lipoprotein cholesterol. Over a median 12 years of follow-up, 21,170 CVD events occurred. Risk prediction models using cumulative mean values of repeated measurements and summary measures from longitudinal modeling of the repeated measurements were compared with models using measurements from a single time point. Risk discrimination (C-index) and net reclassification were calculated, and changes in C-indices were meta-analyzed across studies. Compared with the single-time-point model, the cumulative means and longitudinal models increased the C-index by 0.0040 (95% confidence interval (CI): 0.0023, 0.0057) and 0.0023 (95% CI: 0.0005, 0.0042), respectively. Reclassification was also improved in both models; compared with the single-time-point model, overall net reclassification improvements were 0.0369 (95% CI: 0.0303, 0.0436) for the cumulative-means model and 0.0177 (95% CI: 0.0110, 0.0243) for the longitudinal model. In conclusion, incorporating repeated measurements of blood pressure and cholesterol into CVD risk prediction models slightly improves risk prediction.
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| 11. |
- Rudbeck Jepsen, Martin, et al.
(author)
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Transitions in European land-management regimes between 1800 and 2010
- 2015
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In: Land use policy. - : Elsevier BV. - 0264-8377 .- 1873-5754. ; 49:SI, s. 53-64
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Journal article (peer-reviewed)abstract
- Land use is a cornerstone of human civilization, but also intrinsically linked to many global sustainability challenges—from climate change to food security to the ongoing biodiversity crisis. Understanding the underlying technological, institutional and economic drivers of land-use change, and how they play out in different environmental, socio-economic and cultural contexts, is therefore important for identifying effective policies to successfully address these challenges. In this regard, much can be learned from studying long-term land-use change. We examined the evolution of European land management over the past 200 years with the aim of identifying (1) key episodes of changes in land management, and (2) their underlying technological, institutional and economic drivers. To do so, we generated narratives elaborating on the drivers of land use-change at the country level for 28 countries in Europe. We qualitatively grouped drivers into land-management regimes, and compared changes in management regimes across Europe. Our results allowed discerning seven land-management regimes, and highlighted marked heterogeneity regarding the types of management regimes occurring in a particular country, the timing and prevalence of regimes, and the conditions that result in observed bifurcations. However, we also found strong similarities across countries in the timing of certain land-management regime shifts, often in relation to institutional reforms (e.g., changes in EU agrarian policies or the emergence and collapse of the Soviet land management paradigm) or to technological innovations (e.g., drainage pipes, tillage and harvesting machinery, motorization, and synthetic fertilizers). Land reforms frequently triggered changes in land management, and the location and timing of reforms had substantial impacts on land-use outcomes. Finally, forest protection policies and voluntary cooperatives were important drivers of land-management changes. Overall, our results demonstrate that land-system changes should not be conceived as unidirectional developments following predefined trajectories, but rather as path-dependent processes that may be affected by various drivers, including sudden events.
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