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  • Purdue, Mark P, et al. (författare)
  • Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3
  • 2011
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 43:1, s. 60-65
  • Tidskriftsartikel (refereegranskat)abstract
    • We conducted a two-stage genome-wide association study of renal cell carcinoma (RCC) in 3,772 affected individuals (cases) and 8,505 controls of European background from 11 studies and followed up 6 SNPs in 3 replication studies of 2,198 cases and 4,918 controls. Two loci on the regions of 2p21 and 11q13.3 were associated with RCC susceptibility below genome-wide significance. Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC. The second locus, rs7105934, at 11q13.3, contains no characterized genes (P = 7.8 × 10⁻¹⁴). In addition, we observed a promising association on 12q24.31 for rs4765623, which maps to SCARB1, the scavenger receptor class B, member 1 gene (P = 2.6 × 10⁻⁸). Our study reports previously unidentified genomic regions associated with RCC risk that may lead to new etiological insights.
  • Rossitto, Chiara, et al. (författare)
  • Towards Digital Environmental Stewardship : the Work of Caring for the Environment in Waste Management
  • 2022
  • Ingår i: Conference on Human Factors in Computing Systems - Proceedings. - New York, NY, USA : Association for Computing Machinery. - 9781450391573 ; , s. 1-16
  • Konferensbidrag (refereegranskat)abstract
    • This paper discusses Digital Environmental Stewardship as an analytical framework that can help HCI scholarship to understand, design, and assess sociotechnical interventions concerned with sustainable waste management practices. Drawing on environmental studies, we outline key concepts of environmental stewardship - namely actors, capacity, and motivations - to unpack how different initiatives for handling waste are organised, both through grassroots and top-down interventions, and through varying sociotechnical configurations. We use these dimensions to analyse three different cases of waste management that illustrate how actions of care for the environment are ecologically organised, and what challenges might hinder them beyond -or besides- behavioural motivations. We conclude with a discussion on the orientation to action that the suggested framework provides, and its role in understanding, designing and assessing digital technologies in this domain. We argue that examining how stewardship actions fold into each other helps design sociotechnical interventions for managing waste from within a relational perspective.
  • Sahlin, Jakob, et al. (författare)
  • Transmission Line Loss Prediction Based on Linear Regression and Exchange Flow Modelling
  • 2017
  • Ingår i: 2017 IEEE Manchester PowerTech, Powertech 2017. - : Institute of Electrical and Electronics Engineers (IEEE). - 9781509042371
  • Konferensbidrag (refereegranskat)abstract
    • Inaccurate line loss predictions leads to additional regulation costs for Transmission System Operators (TSOs) that place energy bids at the day-ahead market to account for these losses. This paper presents a line loss prediction model design, applicable with the TSOs forecast conditions, that can reduce additional expenditure due to inaccurate predictions. The model predicts line losses for the next day per bidding area in relation to prognosis data on electrical demand, supply, renewable energy generation and regional exchange flows. Linear regression analysis can extract these relation factors, known as line loss rates, and derive a line loss prediction with increased accuracy and precision. Required input data is available at the power exchange markets apart from future exchange flows, which instead have been modelled as an optimisation problem and predicted by linear programming. Simulations performed on the Swedish National Grid for 2015 demonstrate the models performance and adequacy for TSO application.
  • Sako, Masao, et al. (författare)
  • The Data Release of the Sloan Digital Sky Survey-II Supernova Survey
  • 2018
  • Ingår i: Publications of the Astronomical Society of the Pacific. - : IOP Publishing. - 0004-6280 .- 1538-3873. ; 130:988
  • Tidskriftsartikel (refereegranskat)abstract
    • This paper describes the data release of the Sloan Digital Sky Survey-II (SDSS-II) Supernova Survey conducted between 2005 and 2007. Light curves, spectra, classifications, and ancillary data are presented for 10,258 variable and transient sources discovered through repeat ugriz imaging of SDSS Stripe 82, a 300 deg(2) area along the celestial equator. This data release is comprised of all transient sources brighter than r similar or equal to 22.5 mag with no history of variability prior to 2004. Dedicated spectroscopic observations were performed on a subset of 889 transients, as well as spectra for thousands of transient host galaxies using the SDSS-III BOSS spectrographs. Photometric classifications are provided for the candidates with good multi-color light curves that were not observed spectroscopically, using host galaxy redshift information when available. From these observations, 4607 transients are either spectroscopically confirmed, or likely to be, supernovae, making this the largest sample of supernova candidates ever compiled. We present a new method for SN host-galaxy identification and derive host-galaxy properties including stellar masses, star formation rates, and the average stellar population ages from our SDSS multi-band photometry. We derive SALT2 distance moduli for a total of 1364 SN. Ia with spectroscopic redshifts as well as photometric redshifts for a further 624 purely photometric SN. Ia candidates. Using the spectroscopically confirmed subset of the three-year SDSS-II SN. Ia sample and assuming a flat.CDM cosmology, we determine Omega(M) = 0.315 +/- 0.093 (statistical error only) and detect a non-zero cosmological constant at 5.7 sigma.
  • Setiawan, Veronica Wendy, et al. (författare)
  • CYP17 genetic variation and risk of breast and prostate cancer from the national Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3)
  • 2007
  • Ingår i: Cancer Epidemiology Biomarkers & Prevention. - : American Association for Cancer Research. - 1538-7755. ; 16:11, s. 2237-2246
  • Tidskriftsartikel (refereegranskat)abstract
    • CYP17 encodes cytochrome p450c17 alpha, which mediates activities essential for the production of sex steroids. Common germ line variation in the CYP17 gene has been related to inconsistent results in breast and prostate cancer, with most studies focusing on the nonsynonymous single nucleotide polymorphism (SNP) T27C (rs743572). We comprehensively characterized variation in CYP17 by direct sequencing of exons followed by dense genotyping across the 58 kb region around CYP17 in five racial/ethnic populations. Two blocks of strong linkage disequilibrium were identified and nine haplotype-tagging SNPs, including T27C, were chosen to predict common haplotypes (R-h(2) >= 0.85). These haplotype-tagging SNPs were genotyped in 8,138 prostate cancer cases and 9,033 controls, and 5,333 breast cancer cases and 7,069 controls from the Breast and Prostate Cancer Cohort Consortium. We observed borderline significant associations with prostate cancer for rs2486758 [TC versus TT, odds ratios (OR), 1.07; 95% confidence intervals (95% Cl), 1.00-1.14; CC versus TT, OR, 1.09; 95% CI, 0.95-1.26; P trend = 0.04] and rs6892 (AG versus AA, OR, 1.08; 95% CI, 1.00-1.15; GG versus AA, OR, 1.11; 95% CI, 0.95-1.30; P trend = 0.03). We also observed marginally significant associations with breast cancer for rs4919687 (GA versus GG, OR, 1.04; 95% CI, 0.97-1.12, AA versus GG, OR, 1.17; 95% CI, 1.03-1.34; P trend = 0.03) and rs4919682 (CT versus CC, OR, 1.04; 95% CI, 0.97-1.12; TT versus CC, OR, 1.16; 95% CI, 1.01-1.33; P trend = 0.04). Common variation at CYP17 was not associated with circulating sex steroid hormones in men or postmenopausal women. Our findings do not support the hypothesis that common germ line variation in CYP17 makes a substantial contribution to postmenopausal breast or prostate cancer susceptibility.
  • Skyttner, Camilla, et al. (författare)
  • Sequence and length optimization of membrane active coiled coils for triggered liposome release
  • 2019
  • Ingår i: Biochimica et Biophysica Acta - Biomembranes. - : ELSEVIER SCIENCE BV. - 0005-2736 .- 1879-2642. ; 1862:2, s. 449-456
  • Tidskriftsartikel (refereegranskat)abstract
    • Defined and tunable peptide-lipid membrane interactions that trigger the release of liposome encapsulated drugs may offer a route to improving the efficiency and specificity of liposome-based drug delivery systems, but this require means to tailor the performance of the membrane active peptides. In this paper, the membrane activity of a de novo designed coiled coil peptide has been optimized with respect to sequence and size to improve release efficiency of liposome encapsulated cargo. The peptides were only membrane active when covalently conjugated to the liposomes. Two amino acid substitutions were made to enhance the amphipathic characteristics of the peptide, which increased the release by a factor of five at 1 mu M. Moreover, the effect of peptide length was investigated by varying the number of heptad repeats from 2 to 5, yielding the peptides KVC2-KVC5. The shortest peptide (KVC2) showed the least interaction with the membrane and proved less efficient than the longer peptides in releasing the liposomal cargo. The peptide with three heptads (KVC3) caused liposome aggregation whereas KVC4 proved to effectively release the liposomal cargo without causing aggregation. The longest peptide (KVC5) demonstrated the most defined a-helical secondary structure and the highest liposome surface concentration but showed slower release kinetics than KVC4. The four heptad peptide KVC4 consequently displayed optimal properties for triggering the release and is an interesting candidate for further development of bioresponsive and tunable liposomal drug delivery systems.
  • Tholander, Jakob, et al. (författare)
  • Where all the interaction is sketching in interaction design as an embodied practice
  • 2008
  • Ingår i: Proceedings of the 7th ACM conference on Designing interactive systems. - New York : ACM Press. - 9781605580029 ; , s. 445-454, s. 445-454
  • Konferensbidrag (refereegranskat)abstract
    • Sketching and design sketches are often recognized as key elements of successful interaction design practice and a central skill in interaction design expertise. Interaction design is a relatively young field without well-developed conventions, tools, and formalisms. We analyze the practical work and the conduct of interaction designers in how they express interaction and dynamics through whiteboard drawings. We focus on how talk and action were used to shape the meaning of the drawings. The ways the designers imagined that users would interact with the system and how it would mediate communication between users became topical through a web of drawings, talk, and embodied action. Our analysis forefronts three aspects of interaction design: 1) the role of the design material 2) the role of embodied action in interaction design, and 3) talk and embodied action as central means of doing design. We argue that the qualities of a design material need to be understood in relation to the activity in which it is taken into use and through the kinds of actions that the participants engage in. This implies that design representations do not carry meaning in themselves but are made meaningful through design activity. 
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