| 1. |
- Flannick, Jason, et al.
(författare)
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Data Descriptor : Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
- 2017
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Ingår i: Scientific Data. - : Springer Science and Business Media LLC. - 2052-4463. ; 4
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Tidskriftsartikel (refereegranskat)abstract
- To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (> 80% of low-frequency coding variants in similar to ~82 K Europeans via the exome chip, and similar to ~90% of low-frequency non-coding variants in similar to ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.
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| 2. |
- Fuchsberger, Christian, et al.
(författare)
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The genetic architecture of type 2 diabetes
- 2016
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 536:7614, s. 41-47
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Tidskriftsartikel (refereegranskat)abstract
- The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants associated with type 2 diabetes, but in aggregate, these explain only a fraction of the heritability of this disease. Here, to test the hypothesis that lower-frequency variants explain much of the remainder, the GoT2D and T2D-GENES consortia performed whole-genome sequencing in 2,657 European individuals with and without diabetes, and exome sequencing in 12,940 individuals from five ancestry groups. To increase statistical power, we expanded the sample size via genotyping and imputation in a further 111,548 subjects. Variants associated with type 2 diabetes after sequencing were overwhelmingly common and most fell within regions previously identified by genome-wide association studies. Comprehensive enumeration of sequence variation is necessary to identify functional alleles that provide important clues to disease pathophysiology, but large-scale sequencing does not support the idea that lower-frequency variants have a major role in predisposition to type 2 diabetes.
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| 3. |
- Manning, Alisa, et al.
(författare)
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A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk
- 2017
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Ingår i: Diabetes. - : AMER DIABETES ASSOC. - 0012-1797 .- 1939-327X. ; 66:7, s. 2019-2032
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Tidskriftsartikel (refereegranskat)abstract
- To identify novel coding association signals and facilitate characterization of mechanisms influencing glycemic traits and type 2 diabetes risk, we analyzed 109,215 variants derived from exome array genotyping together with an additional 390,225 variants from exome sequence in up to 39,339 normoglycemic individuals from five ancestry groups. We identified a novel association between the coding variant (p.Pro50Thr) in AKT2 and fasting plasma insulin (FI), a gene in which rare fully penetrant mutations are causal for monogenic glycemic disorders. The low-frequency allele is associated with a 12% increase in FI levels. This variant is present at 1.1% frequency in Finns but virtually absent in individuals from other ancestries. Carriers of the FI-increasing allele had increased 2-h insulin values, decreased insulin sensitivity, and increased risk of type 2 diabetes (odds ratio 1.05). In cellular studies, the AKT2-Thr50 protein exhibited a partial loss of function. We extend the allelic spectrum for coding variants in AKT2 associated with disorders of glucose homeostasis and demonstrate bidirectional effects of variants within the pleckstrin homology domain of AKT2.
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| 4. |
- Hall, C. Michael, et al.
(författare)
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Denying bogus skepticism in climate change and tourism research.
- 2015
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Ingår i: Tourism Management. - : Elsevier BV. - 0261-5177 .- 1879-3193. ; 47, s. 352-356
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Tidskriftsartikel (refereegranskat)abstract
- This final response to the two climate change denial papers by Shani and Arad further highlights the inaccuracies, misinformation and errors in their commentaries. The obfuscation of scientific research and the consensus on anthropogenic climate change may have significant long-term negative consequences for better understanding the implications of climate change and climate policy for tourism and create confusion and delay in developing and implementing tourism sector responses.
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| 5. |
- Burch, J. L., et al.
(författare)
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Electron-scale measurements of magnetic reconnection in space
- 2016
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Ingår i: Science. - : AMER ASSOC ADVANCEMENT SCIENCE. - 0036-8075 .- 1095-9203. ; 352:6290, s. 1189-
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Forskningsöversikt (refereegranskat)abstract
- Magnetic reconnection is a fundamental physical process in plasmas whereby stored magnetic energy is converted into heat and kinetic energy of charged particles. Reconnection occurs in many astrophysical plasma environments and in laboratory plasmas. Using measurements with very high time resolution, NASA's Magnetospheric Multiscale (MMS) mission has found direct evidence for electron demagnetization and acceleration at sites along the sunward boundary of Earth's magnetosphere where the interplanetary magnetic field reconnects with the terrestrial magnetic field. We have (i) observed the conversion of magnetic energy to particle energy; (ii) measured the electric field and current, which together cause the dissipation of magnetic energy; and (iii) identified the electron population that carries the current as a result of demagnetization and acceleration within the reconnection diffusion/dissipation region.
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| 6. |
- Hall, C. Michael, et al.
(författare)
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No time for smokescreen skepticism : A rejoinder to Shani and Arad
- 2015
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Ingår i: Tourism Management. - : Elsevier BV. - 0261-5177 .- 1879-3193. ; 47, s. 341-347
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Tidskriftsartikel (refereegranskat)abstract
- Shani and Arad (2014) claimed that tourism scholars tend to endorse the most pessimistic assessments regarding climate change, and that anthropogenic climate change was a "fashionable" and "highly controversial scientific topic". This brief rejoinder provides the balance that is missing from such climate change denial and skepticism studies on climate change and tourism. Recent research provides substantial evidence that reports on anthropogenic climate change are accurate, and that human-induced greenhouse gas emissions, including from the tourism industry, play a significant role in climate change. Some positive net effects may be experienced by some destinations in the short-term, but in the long-term all elements of the tourism system will be impacted. The expansion of tourism emissions at a rate greater than efficiency gains means that it is increasingly urgent that the tourism sector acknowledge, accept and respond to climate change. Debate on tourism-related adaptation and mitigation measures is to be encouraged and welcomed. Climate change denial is not.
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| 7. |
- Giblin, S. R., et al.
(författare)
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Pauling Entropy, Metastability, and Equilibrium in Dy2Ti2O7 Spin Ice
- 2018
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Ingår i: Physical Review Letters. - : American Physical Society. - 0031-9007 .- 1079-7114. ; 121:6
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Tidskriftsartikel (refereegranskat)abstract
- Determining the fate of the Pauling entropy in the classical spin ice material Dy2Ti2O7 with respect to the third law of thermodynamics has become an important test case for understanding the existence and stability of ice-rule states in general. The standard model of spin ice-the dipolar spin ice model-predicts an ordering transition at T approximate to 0.15 K, but recent experiments by Pomaranski et al. suggest an entropy recovery over long timescales at temperatures as high as 0.5 K, much too high to be compatible with the theory. Using neutron scattering and specific heat measurements at low temperatures and with long timescales ( 0.35 K/10(6) s and 0.5 K/10(5) s, respectively) on several isotopically enriched samples, we find no evidence of a reduction of ice-rule correlations or spin entropy. High-resolution simulations of the neutron structure factor show that the spin correlations remain well described by the dipolar spin ice model at all temperatures. Furthermore, by careful consideration of hyperfine contributions, we conclude that the original entropy measurements of Ramirez et al. are, after all, essentially correct: The short-time relaxation method used in that study gives a reasonably accurate estimate of the equilibrium spin ice entropy due to a cancellation of contributions.
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| 8. |
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| 9. |
- Bovo, L., et al.
(författare)
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Special temperatures in frustrated ferromagnets
- 2018
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Ingår i: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 9:1
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Tidskriftsartikel (refereegranskat)abstract
- The description and detection of unconventional magnetic states, such as spin liquids, is a recurring topic in condensed matter physics. While much of the efforts have traditionally been directed at geometrically frustrated antiferromagnets, recent studies reveal that systems featuring competing antiferromagnetic and ferromagnetic interactions are also promising candidate materials. We find that this competition leads to the notion of special temperatures, analogous to those of gases, at which the competing interactions balance, and the system is quasi-ideal. Although induced by weak perturbing interactions, these special temperatures are surprisingly high and constitute an accessible experimental diagnostic of eventual order or spin-liquid properties. The well characterised Hamiltonian and extended low-temperature susceptibility measurement of the canonical frustrated ferromagnet Dy2Ti2O7 enables us to formulate both a phenomenological and microscopic theory of special temperatures for magnets. Other members of this class of magnets include kapellasite Cu3Zn(OH)6Cl2 and the spinel GeCo2O4.
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| 10. |
- Khotyaintsev, Yuri V., et al.
(författare)
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Electron jet of asymmetric reconnection
- 2016
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Ingår i: Geophysical Research Letters. - : Blackwell Publishing. - 0094-8276 .- 1944-8007. ; 43:11, s. 5571-5580
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Tidskriftsartikel (refereegranskat)abstract
- We present Magnetospheric Multiscale observations of an electron-scale current sheet and electron outflow jet for asymmetric reconnection with guide field at the subsolar magnetopause. The electron jet observed within the reconnection region has an electron Mach number of 0.35 and is associated with electron agyrotropy. The jet is unstable to an electrostatic instability which generates intense waves with E-vertical bar amplitudes reaching up to 300mVm(-1) and potentials up to 20% of the electron thermal energy. We see evidence of interaction between the waves and the electron beam, leading to quick thermalization of the beam and stabilization of the instability. The wave phase speed is comparable to the ion thermal speed, suggesting that the instability is of Buneman type, and therefore introduces electron-ion drag and leads to braking of the electron flow. Our observations demonstrate that electrostatic turbulence plays an important role in the electron-scale physics of asymmetric reconnection.
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| 11. |
- Li, Wenya, et al.
(författare)
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Kinetic evidence of magnetic reconnection due to Kelvin-Helmholtz waves
- 2016
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Ingår i: Geophysical Research Letters. - : Blackwell Publishing. - 0094-8276 .- 1944-8007. ; 43:11, s. 5635-5643
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Tidskriftsartikel (refereegranskat)abstract
- The Kelvin-Helmholtz (KH) instability at the Earth's magnetopause is predominantly excited during northward interplanetary magnetic field (IMF). Magnetic reconnection due to KH waves has been suggested as one of the mechanisms to transfer solar wind plasma into the magnetosphere. We investigate KH waves observed at the magnetopause by the Magnetospheric Multiscale (MMS) mission; in particular, we study the trailing edges of KH waves with Alfvenic ion jets. We observe gradual mixing of magnetospheric and magnetosheath ions at the boundary layer. The magnetospheric electrons with energy up to 80keV are observed on the magnetosheath side of the jets, which indicates that they escape into the magnetosheath through reconnected magnetic field lines. At the same time, the low-energy (below 100eV) magnetosheath electrons enter the magnetosphere and are heated in the field-aligned direction at the high-density edge of the jets. Our observations provide unambiguous kinetic evidence for ongoing reconnection due to KH waves.
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| 12. |
- Torbert, R. B., et al.
(författare)
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Electron-scale dynamics of the diffusion region during symmetric magnetic reconnection in space
- 2018
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Ingår i: Science. - : AMER ASSOC ADVANCEMENT SCIENCE. - 0036-8075 .- 1095-9203. ; 362:6421, s. 1391-1395
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Tidskriftsartikel (refereegranskat)abstract
- Magnetic reconnection is an energy conversion process that occurs in many astrophysical contexts including Earth's magnetosphere, where the process can be investigated in situ by spacecraft. On 11 July 2017, the four Magnetospheric Multiscale spacecraft encountered a reconnection site in Earth's magnetotail, where reconnection involves symmetric inflow conditions. The electron-scale plasma measurements revealed (i) super-Alfvenic electron jets reaching 15,000 kilometers per second; (ii) electron meandering motion and acceleration by the electric field, producing multiple crescent-shaped structures in the velocity distributions; and (iii) the spatial dimensions of the electron diffusion region with an aspect ratio of 0.1 to 0.2, consistent with fast reconnection. The well-structured multiple layers of electron populations indicate that the dominant electron dynamics are mostly laminar, despite the presence of turbulence near the reconnection site.
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| 13. |
- Turner, D. L., et al.
(författare)
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Examining Coherency Scales, Substructure, and Propagation of Whistler Mode Chorus Elements With Magnetospheric Multiscale (MMS)
- 2017
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Ingår i: Journal of Geophysical Research - Space Physics. - : American Geophysical Union (AGU). - 2169-9380 .- 2169-9402. ; 122:11, s. 11201-11226
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Tidskriftsartikel (refereegranskat)abstract
- Whistler mode chorus waves are a naturally occurring electromagnetic emission observed in Earth's magnetosphere. Here, for the first time, data from NASA's Magnetospheric Multiscale (MMS) mission were used to analyze chorus waves in detail, including the calculation of chorus wave normal vectors, k. A case study was examined from a period of substorm activity around the time of a conjunction between the MMS constellation and NASA's Van Allen Probes mission on 07 April 2016. Chorus wave activity was simultaneously observed by all six spacecraft over a broad range of L shells (5.5 < L < 8.5), magnetic local time (06: 00 < MLT < 09: 00), and magnetic latitude (-32 degrees < MLAT < -15 degrees), implying a large chorus active region. Eight chorus elements and their substructure were analyzed in detail with MMS. These chorus elements were all lower band and rising tone emissions, right-handed and nearly circularly polarized, and propagating away from the magnetic equator when they were observed at MMS (MLAT similar to-31 degrees). Most of the elements had "hook"-like signatures on their wave power spectra, characterized by enhanced wave power at flat or falling frequency following the peak, and all the elements exhibited complex and well-organized substructure observed consistently at all four MMS spacecraft at separations up to 70 km (60 km perpendicular and 38 km parallel to the background magnetic field). The waveforms in field-aligned coordinates also demonstrated that these waves were all phase coherent, allowing for the direct calculation of k. Error estimates on calculated k revealed that the plane wave approximation was valid for six of the eight elements and most of the subelements. The wave normal vectors were within 20-30 degrees from the direction antiparallel to the background field for all elements and changed from subelement to subelement through at least two of the eight elements. The azimuthal angle of k in the perpendicular plane was oriented earthward and was oblique to that of the Poynting vector, which has implications for the validity of cold plasma theory.
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