Showing papers by "University of Bergen published in 2014"
University of Washington1, Sapienza University of Rome2, Mekelle University3, University of Texas at San Antonio4, King Saud bin Abdulaziz University for Health Sciences5, Debre markos University6, Emory University7, University of Oxford8, University of Cartagena9, United Nations Population Fund10, University of Birmingham11, Stanford University12, Aga Khan University13, University of Melbourne14, National Taiwan University15, University of Cambridge16, University of California, San Diego17, Public Health Foundation of India18, Public Health England19, University of Peradeniya20, Harvard University21, National Institutes of Health22, Tehran University of Medical Sciences23, Auckland University of Technology24, University of Sheffield25, University of Western Australia26, Karolinska Institutet27, Birzeit University28, Brandeis University29, American Cancer Society30, Ochsner Medical Center31, Yonsei University32, University of Bristol33, Heidelberg University34, Vanderbilt University35, South African Medical Research Council36, Jordan University of Science and Technology37, New Generation University College38, Northeastern University39, Simmons College40, Norwegian Institute of Public Health41, Boston University42, Chinese Center for Disease Control and Prevention43, University of Bari44, University of São Paulo45, University of Otago46, University of Crete47, International Centre for Diarrhoeal Disease Research, Bangladesh48, Fred Hutchinson Cancer Research Center49, Teikyo University50, Bhabha Atomic Research Centre51, University of Tokyo52, Finnish Institute of Occupational Health53, Heriot-Watt University54, University of Alabama at Birmingham55, Griffith University56, National Center for Disease Control and Public Health57, University of California, Irvine58, Johns Hopkins University59, New York University60, University of Queensland61, Universidade Federal de Minas Gerais62, National Research University – Higher School of Economics63, University of Bergen64, Columbia University65, Shandong University66, University of North Carolina at Chapel Hill67, Fujita Health University68, Korea University69, Chongqing Medical University70, Zhejiang University71
TL;DR: The global, regional, and national prevalence of overweight and obesity in children and adults during 1980-2013 is estimated using a spatiotemporal Gaussian process regression model to estimate prevalence with 95% uncertainty intervals (UIs).
9,180 citations
Alistair R. R. Forrest, Hideya Kawaji, Michael Rehli1, J Kenneth Baillie2 +277 more•Institutions (63)
TL;DR: For example, the authors mapped transcription start sites (TSSs) and their usage in human and mouse primary cells, cell lines and tissues to produce a comprehensive overview of mammalian gene expression across the human body.
Abstract: Regulated transcription controls the diversity, developmental pathways and spatial organization of the hundreds of cell types that make up a mammal Using single-molecule cDNA sequencing, we mapped transcription start sites (TSSs) and their usage in human and mouse primary cells, cell lines and tissues to produce a comprehensive overview of mammalian gene expression across the human body We find that few genes are truly 'housekeeping', whereas many mammalian promoters are composite entities composed of several closely separated TSSs, with independent cell-type-specific expression profiles TSSs specific to different cell types evolve at different rates, whereas promoters of broadly expressed genes are the most conserved Promoter-based expression analysis reveals key transcription factors defining cell states and links them to binding-site motifs The functions of identified novel transcripts can be predicted by coexpression and sample ontology enrichment analyses The functional annotation of the mammalian genome 5 (FANTOM5) project provides comprehensive expression profiles and functional annotation of mammalian cell-type-specific transcriptomes with wide applications in biomedical research
1,715 citations
Nicholas J Kassebaum1, Amelia Bertozzi-Villa1, Megan Coggeshall1, Katya Anne Shackelford1 +349 more•Institutions (179)
TL;DR: Global rates of change suggest that only 16 countries will achieve the MDG 5 target by 2015, with evidence of continued acceleration in the MMR, and MMR was highest in the oldest age groups in both 1990 and 2013.
1,383 citations
Harvard University1, Broad Institute2, University of Tübingen3, Max Planck Society4, University of Mainz5, University of Washington6, University of California, Berkeley7, Massachusetts Institute of Technology8, Stockholm University9, University of Adelaide10, The Heritage Foundation11, National Museum of Natural History12, University of Edinburgh13, Sultan Qaboos University14, University of Costa Rica15, University of Antioquia16, Rambam Health Care Campus17, University of Pécs18, Al Akhawayn University19, Catholic University of the Sacred Heart20, University of Oxford21, Belgorod State University22, University of Toronto23, University of Buenos Aires24, University of Bern25, Russian Academy of Sciences26, Paul Sabatier University27, North-Eastern Federal University28, University of Chicago29, University of Arizona30, Stony Brook University31, University of Bergen32, Illumina33, Sofia Medical University34, Bashkir State University35, University of Cambridge36, Vilnius University37, Estonian Biocentre38, University of Strasbourg39, University College London40, Amgen41, Gladstone Institutes42, University of Tartu43, University of Oulu44, Muhimbili University of Health and Allied Sciences45, University of Palermo46, University of Tarapacá47, University of Chile48, Academy of Sciences of Uzbekistan49, Armenian National Academy of Sciences50, University of North Texas51, University of Santiago de Compostela52, University of Kharkiv53, Higher University of San Andrés54, Novosibirsk State University55, Leidos56, Lebanese American University57, University of Split58, University of Pennsylvania59, Banaras Hindu University60, Centre for Cellular and Molecular Biology61, Estonian Academy of Sciences62, Pompeu Fabra University63, Howard Hughes Medical Institute64
TL;DR: It is shown that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians; and early European farmers, who were mainly of Near Eastern origin but also harboured west Europeanhunter-gatherer related ancestry.
Abstract: We sequenced the genomes of a ∼7,000-year-old farmer from Germany and eight ∼8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes with 2,345 contemporary humans to show that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians, who contributed to both Europeans and Near Easterners; and early European farmers, who were mainly of Near Eastern origin but also harboured west European hunter-gatherer related ancestry. We model these populations' deep relationships and show that early European farmers had ∼44% ancestry from a 'basal Eurasian' population that split before the diversification of other non-African lineages.
1,077 citations
TL;DR: The AMBER lipid force field has been updated to create Lipid14, allowing tensionless simulation of a number of lipid types with the AMBER MD package, and is compatible with theAMBER protein, nucleic acid, carbohydrate, and small molecule force fields.
Abstract: The AMBER lipid force field has been updated to create Lipid14, allowing tensionless simulation of a number of lipid types with the AMBER MD package. The modular nature of this force field allows numerous combinations of head and tail groups to create different lipid types, enabling the easy insertion of new lipid species. The Lennard-Jones and torsion parameters of both the head and tail groups have been revised and updated partial charges calculated. The force field has been validated by simulating bilayers of six different lipid types for a total of 0.5 μs each without applying a surface tension; with favorable comparison to experiment for properties such as area per lipid, volume per lipid, bilayer thickness, NMR order parameters, scattering data, and lipid lateral diffusion. As the derivation of this force field is consistent with the AMBER development philosophy, Lipid14 is compatible with the AMBER protein, nucleic acid, carbohydrate, and small molecule force fields.
973 citations
The Mind Research Network1, University of Bergen2, University of North Carolina at Chapel Hill3, Veterans Health Administration4, University of California, San Francisco5, University of California, Los Angeles6, University of Minnesota7, Yale University8, University of California, Irvine9, Georgia State University10, University of Iowa11, University of New Mexico12
TL;DR: The results support and expand current knowledge regarding dysconnectivity in schizophrenia, and strongly advocate the use of dynamic analyses to better account for and understand functional connectivity differences.
906 citations
Christopher J L Murray1, Katrina F Ortblad1, Caterina Guinovart1, Stephen S Lim1 +367 more•Institutions (179)
TL;DR: The Global Burden of Disease 2013 study provides a consistent and comprehensive approach to disease estimation for between 1990 and 2013, and an opportunity to assess whether accelerated progress has occured since the Millennium Declaration.
875 citations
TL;DR: The ENIGMA Consortium has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected.
Abstract: The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA's first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way.
713 citations
Betty Abelev1, Luke David Hanratty2, M. Esposito3, Edmundo Javier Garcia-Solis4 +940 more•Institutions (90)
TL;DR: The ALICE experiment at the CERN Large Hadron Collider as mentioned in this paper continuously took data during the first physics campaign of the machine from fall 2009 until early 2013, using proton and lead-ion beams.
Abstract: ALICE is the heavy-ion experiment at the CERN Large Hadron Collider. The experiment continuously took data during the first physics campaign of the machine from fall 2009 until early 2013, using proton and lead-ion beams. In this paper we describe the running environment and the data handling procedures, and discuss the performance of the ALICE detectors and analysis methods for various physics observables.
691 citations
TL;DR: Modelling and a sensitivity analysis of the acoustic observations from the Malaspina 2010 Circumnavigation Expedition show that the previous estimate of mesopelagic fishes biomass needs to be revised to at least one order of magnitude higher, and there is a close relationship between the open ocean fishes biomass and primary production.
Abstract: With a current estimate of ~1,000 million tons, mesopelagic fishes likely dominate the world total fishes biomass. However, recent acoustic observations show that mesopelagic fishes biomass could be significantly larger than the current estimate. Here we combine modelling and a sensitivity analysis of the acoustic observations from the Malaspina 2010 Circumnavigation Expedition to show that the previous estimate needs to be revised to at least one order of magnitude higher. We show that there is a close relationship between the open ocean fishes biomass and primary production, and that the energy transfer efficiency from phytoplankton to mesopelagic fishes in the open ocean is higher than what is typically assumed. Our results indicate that the role of mesopelagic fishes in oceanic ecosystems and global ocean biogeochemical cycles needs to be revised as they may be respiring ~10% of the primary production in deep waters. Mesopelagic fishes dominate the global fishes biomass, yet there exist major uncertainties regarding their global biomass. Irigoien et al.analyse acoustic data collected during a circumglobal cruise and show that biomass estimates should be raised by an order of magnitude.
545 citations
University of Nottingham1, King Saud Medical City2, International Centre for Diarrhoeal Disease Research, Bangladesh3, Government Medical College, Thiruvananthapuram4, Centers for Disease Control and Prevention5, Ljubljana University Medical Centre6, Kantonsspital St. Gallen7, Institut de veille sanitaire8, Children's Hospital at Westmead9, Mexican Social Security Institute10, Medical University of Vienna11, Capital Medical University12, University of Barcelona13, University of Colorado Denver14, State University of West Paraná15, Sheba Medical Center16, University of Manitoba17, Peking University18, National Institutes of Health19, Hospital General Universitario Gregorio Marañón20, Statens Serum Institut21, Imperial College London22, Boston Children's Hospital23, Peking Union Medical College Hospital24, Dhaka Medical College and Hospital25, Universidade Federal de Ciências da Saúde de Porto Alegre26, Gold Coast Hospital27, Tehran University of Medical Sciences28, University of Oxford29, University of Zagreb30, Pamela Youde Nethersole Eastern Hospital31, Stellenbosch University32, Shiraz University of Medical Sciences33, Tan Tock Seng Hospital34, University of Helsinki35, China Medical University (PRC)36, King Hussein Cancer Center37, University of Toronto38, Alfaisal University39, Erciyes University40, Lithuanian University of Health Sciences41, Military Medical Academy42, University of Bergen43, Haukeland University Hospital44, Shahid Beheshti University of Medical Sciences and Health Services45, Johns Hopkins University School of Medicine46, University of Birmingham47, Rambam Health Care Campus48, Vanderbilt University49, Charité50, University of Bristol51, Yüzüncü Yıl University52, Oswaldo Cruz Foundation53, Rzeszów University54, University Hospital of Basel55, Medical University of Warsaw56, University of Alberta Hospital57, University of Alberta58, University of Hong Kong59, National Center for Immunization and Respiratory Diseases60, VU University Medical Center61
TL;DR: There was an increase in the mortality hazard rate with each day's delay in initiation of treatment up to day 5 as compared with treatment initiated within 2 days of symptom onset, and early treatment versus no treatment was also associated with a reduction in mortality risk.
TL;DR: Ophiolites are suites of temporally and spatially associated ultramafic, mafic and felsic rocks that are interpreted to be remnants of ancient oceanic crust and upper mantle.
Abstract: Ophiolites are suites of temporally and spatially associated ultramafic, mafic, and felsic rocks that are interpreted to be remnants of ancient oceanic crust and upper mantle. Ophiolites show significant variations in their internal structure, geochemical fingerprints, and emplacement mechanisms. These differences are controlled by (1) the proximity, when formed at the magmatic stage, to a plume or trench; (2) the rate, geometry, and nature of ocean-ridge spreading; (3) mantle composition, temperature, and fertility; and (4) the availability of fluids. The oceanic crust preserved in ophiolites may form in any tectonic setting during the evolution of ocean basins, from the rift–drift and seafloor spreading stages to subduction initiation and terminal closure. An ophiolite is emplaced either from downgoing oceanic lithosphere via subduction-accretion or from the upper plate in a subduction zone through trench–continent collision. Subduction zone tectonics is thus the most important factor in the igneous evolution of ophiolites and their emplacement into continental margins.
TL;DR: In this article, the daily influence of transformational leadership, contingent reward, and active management-by-exception (MBE active) on followers' daily work engagement was examined.
Abstract: This diary study adds to the leadership literature by examining the daily influence of transformational leadership, contingent reward, and active management-by-exception (MBE active) on followers' daily work engagement. We compare the unique contribution of these leadership behaviours and focus on the work environment to examine how these leadership behaviours influence followers' daily work engagement. While travelling by sail ship, 61 naval cadets filled out a diary questionnaire for 34 days. Multilevel regression analyses revealed that, after controlling for followers' work engagement the previous day, cadets were more engaged on days that their leader showed more transformational leadership and provided contingent reward. MBE active was unrelated to followers' work engagement. As predicted, transformational leadership and contingent reward contributed to a more favourable work environment (more autonomy and support), while MBE active resulted in a less favourable work environment (less autonomy) for the cadets. This study highlights the importance of daily leadership for followers' daily work engagement.
TL;DR: In this article, a constraint-based approach to visualizing high dimensional data was proposed to analyze the effect of parameter choices on data transformations and showed that deep learning methods are able to learn physiologically important representations and detect latent relations in neuroimaging data.
Abstract: Deep learning methods have recently made notable advances in the tasks of classification and representation learning. These tasks are important for brain imaging and neuroscience discovery, making the methods attractive for porting to a neuroimager's toolbox. Success of these methods is, in part, explained by the flexibility of deep learning models. However, this flexibility makes the process of porting to new areas a difficult parameter optimization problem. In this work we demonstrate our results (and feasible parameter ranges) in application of deep learning methods to structural and functional brain imaging data. These methods include deep belief networks and their building block the restricted Boltzmann machine. We also describe a novel constraint-based approach to visualizing high dimensional data. We use it to analyze the effect of parameter choices on data transformations. Our results show that deep learning methods are able to learn physiologically important representations and detect latent relations in neuroimaging data.
Harvard University1, Broad Institute2, University of Tübingen3, Max Planck Society4, University of Mainz5, University of Washington6, University of California, Berkeley7, Massachusetts Institute of Technology8, Stockholm University9, University of Adelaide10, The Heritage Foundation11, National Museum of Natural History12, Sultan Qaboos University13, University of Edinburgh14, University of Costa Rica15, University of Antioquia16, Rambam Health Care Campus17, University of Pécs18, Al Akhawayn University19, Catholic University of the Sacred Heart20, University of Oxford21, Belgorod State University22, University of Toronto23, University of Buenos Aires24, University of Bern25, Russian Academy of Sciences26, Paul Sabatier University27, North-Eastern Federal University28, University of Chicago29, University of Arizona30, Stony Brook University31, University of Bergen32, Illumina33, Sofia Medical University34, Bashkir State University35, University of Cambridge36, Vilnius University37, Estonian Biocentre38, University of Strasbourg39, Amgen40, University College London41, Gladstone Institutes42, University of Tartu43, University of Oulu44, Muhimbili University of Health and Allied Sciences45, University of Palermo46, University of Tarapacá47, University of Chile48, Academy of Sciences of Uzbekistan49, Armenian National Academy of Sciences50, University of North Texas51, University of Santiago de Compostela52, University of Kharkiv53, Higher University of San Andrés54, Novosibirsk State University55, Leidos56, Lebanese American University57, University of Split58, University of Pennsylvania59, Banaras Hindu University60, Centre for Cellular and Molecular Biology61, Estonian Academy of Sciences62, Pompeu Fabra University63, Howard Hughes Medical Institute64
TL;DR: The authors showed that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, ancient north Eurasians related to Upper Palaeolithic Siberians, who contributed to both Europeans and Near Easterners; and early European farmers, who were mainly of Near Eastern origin but also harboured west European hunters-gatherer related ancestry.
Abstract: We sequenced the genomes of a ∼7,000-year-old farmer from Germany and eight ∼8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes with 2,345 contemporary humans to show that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians, who contributed to both Europeans and Near Easterners; and early European farmers, who were mainly of Near Eastern origin but also harboured west European hunter-gatherer related ancestry. We model these populations' deep relationships and show that early European farmers had ∼44% ancestry from a 'basal Eurasian' population that split before the diversification of other non-African lineages.
TL;DR: In this article, the authors presented a search for a dark photon in the reaction e^{+}e^{-}→γA^{'], A^{'}→e''+''e''-e''−γA''−E''−μ'' −μ'' -E'' −γA''.
Abstract: Dark sectors charged under a new Abelian interaction have recently received much attention in the context of dark matter models. These models introduce a light new mediator, the so-called dark photon (A^{'}), connecting the dark sector to the standard model. We present a search for a dark photon in the reaction e^{+}e^{-}→γA^{'}, A^{'}→e^{+}e^{-}, μ^{+}μ^{-} using 514 fb^{-1} of data collected with the BABAR detector. We observe no statistically significant deviations from the standard model predictions, and we set 90% confidence level upper limits on the mixing strength between the photon and dark photon at the level of 10^{-4}-10^{-3} for dark photon masses in the range 0.02-10.2 GeV. We further constrain the range of the parameter space favored by interpretations of the discrepancy between the calculated and measured anomalous magnetic moment of the muon.
TL;DR: The research on this topic is in its infancy, and as such the SNS-addiction construct needs further conceptual and empirical exploration, and there is a great demand for studies using careful longitudinal designs and studies which include objective measures of both behavior and health based on broad representative samples.
Abstract: Research into frequent, excessive, and compulsive social network activity has increased the last years, in which terms such as "social network site addiction" and "Facebook addiction" have been used interchangeably. The aim of this review is to offer more knowledge and better understanding of social network site addiction (SNS-addiction) among researchers as well as clinicians by presenting a narrative overview of the research field in terms of definition, measurement, antecedents, consequences, and treatment as well as recommendations for future research efforts. Seven different measures of SNS-addiction have been developed, although they have to a very little extent been validated against each other. The small number of studies conducted so far on this topic suggests that SNS-addiction is associated with health-related, academic, and interpersonal problems/issues. However such studies have relied on a simple cross-sectional study design. It is therefore hard to draw any conclusions about potential causality and long-term effects at this point, beyond hypothetical speculations. Empirical studies suggest that SNS-addiction is caused by dispositional factors (e.g., personality, needs, self-esteem), although relevant explanatory socio-cultural and behavioral reinforcement factors remain to be empirically explored. No well-documented treatment for SNS-addiction exists, but knowledge gained from Internet addiction treatment approaches might be transferable to SNS-addiction. Overall, the research on this topic is in its infancy, and as such the SNS-addiction construct needs further conceptual and empirical exploration. There is a great demand for studies using careful longitudinal designs and studies which include objective measures of both behavior and health based on broad representative samples.
TL;DR: The physics of the SLAC and KEK B Factories are described in this paper, with a brief description of the detectors, BaBar and Belle, and data taking related issues.
Abstract: This work is on the Physics of the B Factories. Part A of this book contains a brief description of the SLAC and KEK B Factories as well as their detectors, BaBar and Belle, and data taking related issues. Part B discusses tools and methods used by the experiments in order to obtain results. The results themselves can be found in Part C.
TL;DR: Using genetic and pharmacological approaches to perturb NAD(P)H metabolism, it is found that fluorescence lifetime imaging (FLIM) differentiates quantitatively between the two cofactors, revealing NADPH-enriched populations of cells, raising questions about their distinct metabolic roles.
Abstract: NAD is a key determinant of cellular energy metabolism. In contrast, its phosphorylated form, NADP, plays a central role in biosynthetic pathways and antioxidant defence. The reduced forms of both pyridine nucleotides are fluorescent in living cells but they cannot be distinguished, as they are spectrally identical. Here, using genetic and pharmacological approaches to perturb NAD(P)H metabolism, we find that fluorescence lifetime imaging (FLIM) differentiates quantitatively between the two cofactors. Systematic manipulations to change the balance between oxidative and glycolytic metabolism suggest that these states do not directly impact NAD(P)H fluorescence decay rates. The lifetime changes observed in cancers thus likely reflect shifts in the NADPH/NADH balance. Using a mathematical model, we use these experimental data to quantify the relative levels of NADH and NADPH in different cell types of a complex tissue, the mammalian cochlea. This reveals NADPH-enriched populations of cells, raising questions about their distinct metabolic roles.
TL;DR: This paper will review the development of high order accurate multi-block finite difference schemes, point out the main contributions and speculate about the next lines of research in this area.
TL;DR: The data indicate that long-acting GLP-1R agonists influence body weight by regulating either food intake or energy expenditure through various hypothalamic sites and that these mechanisms might be clinically relevant.
Abstract: GLP-1 receptor (GLP-1R) is widely located throughout the brain, but the precise molecular mechanisms mediating the actions of GLP-1 and its long-acting analogs on adipose tissue as well as the brain areas responsible for these interactions remain largely unknown. We found that central injection of a clinically used GLP-1R agonist, liraglutide, in mice stimulates brown adipose tissue (BAT) thermogenesis and adipocyte browning independent of nutrient intake. The mechanism controlling these actions is located in the hypothalamic ventromedial nucleus (VMH), and the activation of AMPK in this area is sufficient to blunt both central liraglutide-induced thermogenesis and adipocyte browning. The decreased body weight caused by the central injection of liraglutide in other hypothalamic sites was sufficiently explained by the suppression of food intake. In a longitudinal study involving obese type 2 diabetic patients treated for 1 year with GLP-1R agonists, both exenatide and liraglutide increased energy expenditure. Although the results do not exclude the possibility that extrahypothalamic areas are also modulating the effects of GLP-1R agonists, the data indicate that long-acting GLP-1R agonists influence body weight by regulating either food intake or energy expenditure through various hypothalamic sites and that these mechanisms might be clinically relevant.
Broad Institute1, Harvard University2, deCODE genetics3, University of Oxford4, University of Copenhagen5, University of Michigan6, Yeshiva University7, Texas Biomedical Research Institute8, Wake Forest University9, University of Southern Denmark10, Pfizer11, Ealing Hospital12, National Health Service13, Imperial College London14, Hallym University15, Lund University16, University of Helsinki17, University of Texas Health Science Center at Houston18, Norwegian University of Science and Technology19, Uppsala University20, University of Bergen21, Aalborg University22, Novo Nordisk23, University of Eastern Finland24, Technische Universität München25, University of North Carolina at Chapel Hill26, University of Liverpool27, National Institute for Health and Welfare28, National University of Singapore29, Agency for Science, Technology and Research30, University of Iceland31, King Abdulaziz University32, Danube University Krems33, University of Pennsylvania34, University of Mississippi35, Churchill Hospital36, Massachusetts Institute of Technology37
TL;DR: In this article, the authors identified 12 rare protein-truncating variants in SLC30A8, which encodes an islet zinc transporter (ZnT8) and harbors a common variant (p.Trp325Arg) associated with T2D risk and glucose and proinsulin levels.
Abstract: Loss-of-function mutations protective against human disease provide in vivo validation of therapeutic targets, but none have yet been described for type 2 diabetes (T2D). Through sequencing or genotyping of ~150,000 individuals across 5 ancestry groups, we identified 12 rare protein-truncating variants in SLC30A8, which encodes an islet zinc transporter (ZnT8) and harbors a common variant (p.Trp325Arg) associated with T2D risk and glucose and proinsulin levels. Collectively, carriers of protein-truncating variants had 65% reduced T2D risk (P = 1.7 × 10(-6)), and non-diabetic Icelandic carriers of a frameshift variant (p.Lys34Serfs*50) demonstrated reduced glucose levels (-0.17 s.d., P = 4.6 × 10(-4)). The two most common protein-truncating variants (p.Arg138* and p.Lys34Serfs*50) individually associate with T2D protection and encode unstable ZnT8 proteins. Previous functional study of SLC30A8 suggested that reduced zinc transport increases T2D risk, and phenotypic heterogeneity was observed in mouse Slc30a8 knockouts. In contrast, loss-of-function mutations in humans provide strong evidence that SLC30A8 haploinsufficiency protects against T2D, suggesting ZnT8 inhibition as a therapeutic strategy in T2D prevention.
TL;DR: Estimating the global lifetime prevalence rate of anabolic-androgenic steroid (AAS) use and investigating moderators of the prevalence rate found sample type (athletes), assessment method, sampling method, and male sample percentage were significant predictors of AAS use prevalence.
Bergen University College1, University of Bergen2, Sewanee: The University of the South3, COMSATS Institute of Information Technology4, University of Oslo5, GSI Helmholtz Centre for Heavy Ion Research6, Konkuk University7, Lawrence Livermore National Laboratory8, Czech Technical University in Prague9, Academy of Sciences of the Czech Republic10, Yale University11, Panjab University, Chandigarh12, Hungarian Academy of Sciences13, Variable Energy Cyclotron Centre14, Aligarh Muslim University15, Oak Ridge National Laboratory16
TL;DR: In this article, comprehensive results on π±, K±, k0 S, p(p) and ¯ Λ(Λ)¯ production at mid-rapidity (0 < yCMS < 0.5) in p-Pb collisions at √sNN = 5.02 TeV, measured by the ALICE detector at the LHC, are reported.
National Center for Atmospheric Research1, Lawrence Berkeley National Laboratory2, Leibniz Institute for Neurobiology3, Goddard Institute for Space Studies4, National Oceanography Centre5, Alfred Wegener Institute for Polar and Marine Research6, Russian Academy of Sciences7, University of Bergen8, International Centre for Theoretical Physics9, Central Maine Community College10, Massachusetts Institute of Technology11, Japan Meteorological Agency12, Geophysical Fluid Dynamics Laboratory13, Florida State University14, Commonwealth Scientific and Industrial Research Organisation15, National Institute of Geophysics and Volcanology16, National Oceanography Centre, Southampton17
TL;DR: Simulation characteristics from eighteen global ocean-sea-ice coupled models are presented with a focus on the mean Atlantic meridional overturning circulation (AMOC) and other related fields in the North Atlantic as discussed by the authors.
TL;DR: In this article, the authors presented the electron and photon energy calibration achieved with the ATLAS detector using about 25 fb(-1) of LHC proton-proton collision data taken at center-of-mass energies of root s = 7 and 8 TeV.
Abstract: This paper presents the electron and photon energy calibration achieved with the ATLAS detector using about 25 fb(-1) of LHC proton-proton collision data taken at centre-of-mass energies of root s = 7 and 8 TeV. The reconstruction of electron and photon energies is optimised using multivariate algorithms. The response of the calorimeter layers is equalised in data and simulation, and the longitudinal profile of the electromagnetic showers is exploited to estimate the passive material in front of the calorimeter and reoptimise the detector simulation. After all corrections, the Z resonance is used to set the absolute energy scale. For electrons from Z decays, the achieved calibration is typically accurate to 0.05% in most of the detector acceptance, rising to 0.2% in regions with large amounts of passive material. The remaining inaccuracy is less than 0.2-1% for electrons with a transverse energy of 10 GeV, and is on average 0.3% for photons. The detector resolution is determined with a relative inaccuracy of less than 10% for electrons and photons up to 60 GeV transverse energy, rising to 40% for transverse energies above 500 GeV.
TL;DR: This is the first characterization of the complete 18S rRNA gene using all eukaryotes present in the SILVA database, providing a robust test for universal eukARYotic primers and suggesting that the V2, V4 and V9 regions were best suited for biodiversity assessments.
Abstract: High throughput sequencing technology has great promise for biodiversity studies. However, an underlying assumption is that the primers used in these studies are universal for the prokaryotic or eukaryotic groups of interest. Full primer universality is difficult or impossible to achieve and studies using different primer sets make biodiversity comparisons problematic. The aim of this study was to design and optimize universal eukaryotic primers that could be used as a standard in future biodiversity studies. Using the alignment of all eukaryotic sequences from the publicly available SILVA database, we generated a full characterization of variable versus conserved regions in the 18S rRNA gene. All variable regions within this gene were analyzed and our results suggested that the V2, V4 and V9 regions were best suited for biodiversity assessments. Previously published universal eukaryotic primers as well as a number of self-designed primers were mapped to the alignment. Primer selection will depend on sequencing technology used, and this study focused on the 454 pyrosequencing GS FLX Titanium platform. The results generated a primer pair yielding theoretical matches to 80% of the eukaryotic and 0% of the prokaryotic sequences in the SILVA database. An empirical test of marine sediments using the AmpliconNoise pipeline for analysis of the high throughput sequencing data yielded amplification of sequences for 71% of all eukaryotic phyla with no isolation of prokaryotic sequences. To our knowledge this is the first characterization of the complete 18S rRNA gene using all eukaryotes present in the SILVA database, providing a robust test for universal eukaryotic primers. Since both in silico and empirical tests using high throughput sequencing retained high inclusion of eukaryotic phyla and exclusion of prokaryotes, we conclude that these primers are well suited for assessing eukaryote diversity, and can be used as a standard in biodiversity studies.
TL;DR: An earlier version of the paper was presented at the Conference of the European Group of Public Administration, 4-7 September 2002, Potsdam, Germany - group on ''Quality, satisfaction and trust in government».
Abstract: An earlier version of the paper was presented at the Conference of the European Group of Public Administration, 4—7 September 2002, Potsdam, Germany - group on «Quality, satisfaction and trust in government»
TL;DR: In this paper, a measurement of the Z/gamma* boson transverse momentum spectrum using ATLAS proton-proton collision data at a centre-of-mass energy of root s = 7TeV at the LHC is described.
Abstract: This paper describes a measurement of the Z/gamma* boson transverse momentum spectrum using ATLAS proton-proton collision data at a centre-of-mass energy of root s = 7TeV at the LHC. The measurement is performed in the Z/gamma* -> e(+)e(-) and Z/gamma* -> mu(+)mu(-) channels, using data corresponding to an integrated luminosity of 4.7 fb(-1). Normalized differential cross sections as a function of the Z/gamma* boson transverse momentum are measured for transverse momenta up to 800 GeV. The measurement is performed inclusively for Z/gamma* rapidities up to 2.4, as well as in three rapidity bins. The channel results are combined, compared to perturbative and resummed QCD calculations and used to constrain the parton shower parameters of Monte Carlo generators.
Wellcome Trust Sanger Institute1, University of Santiago de Compostela2, University College London3, Haukeland University Hospital4, University of Bergen5, Katholieke Universiteit Leuven6, University of Cambridge7, University of Liverpool8, University of East Anglia9, Institute of Cancer Research10, University of Tampere11, Johns Hopkins University12, Netherlands Cancer Institute13, Université libre de Bruxelles14, Erasmus University Medical Center15, University of Iceland16, Royal Brisbane and Women's Hospital17, University of Queensland18, University of Lyon19, Oslo University Hospital20, Radboud University Nijmegen21, Harvard University22, Curie Institute23, Royal National Orthopaedic Hospital24, University of Texas MD Anderson Cancer Center25
TL;DR: It is found that 3′ transduction activity in a patient’s tumor was always associated with hypomethylation of that element, and in some cases transduction events can scatter exons, genes, and regulatory elements widely across the genome.
Abstract: Long interspersed nuclear element-1 (L1) retrotransposons are mobile repetitive elements that are abundant in the human genome. L1 elements propagate through RNA intermediates. In the germ line, neighboring, nonrepetitive sequences are occasionally mobilized by the L1 machinery, a process called 3' transduction. Because 3' transductions are potentially mutagenic, we explored the extent to which they occur somatically during tumorigenesis. Studying cancer genomes from 244 patients, we found that tumors from 53% of the patients had somatic retrotranspositions, of which 24% were 3' transductions. Fingerprinting of donor L1s revealed that a handful of source L1 elements in a tumor can spawn from tens to hundreds of 3' transductions, which can themselves seed further retrotranspositions. The activity of individual L1 elements fluctuated during tumor evolution and correlated with L1 promoter hypomethylation. The 3' transductions disseminated genes, exons, and regulatory elements to new locations, most often to heterochromatic regions of the genome.