| 1. |
- Ferrari, Raffaele, et al.
(author)
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Frontotemporal dementia and its subtypes: a genome-wide association study.
- 2014
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In: Lancet Neurology. - 1474-4465. ; 13:7, s. 686-699
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Journal article (peer-reviewed)abstract
- Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes-MAPT, GRN, and C9orf72-have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder.
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| 2. |
- Su, Zhan, et al.
(author)
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Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.
- 2012
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:10
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Journal article (peer-reviewed)abstract
- Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia, and it strongly predisposes to esophageal adenocarcinoma (EAC), a tumor with a very poor prognosis. We report the first genome-wide association study on Barrett's esophagus, comprising 1,852 UK cases and 5,172 UK controls in the discovery stage and 5,986 cases and 12,825 controls in the replication stage. Variants at two loci were associated with disease risk: chromosome 6p21, rs9257809 (Pcombined=4.09×10(-9); odds ratio (OR)=1.21, 95% confidence interval (CI)=1.13-1.28), within the major histocompatibility complex locus, and chromosome 16q24, rs9936833 (Pcombined=2.74×10(-10); OR=1.14, 95% CI=1.10-1.19), for which the closest protein-coding gene is FOXF1, which is implicated in esophageal development and structure. We found evidence that many common variants of small effect contribute to genetic susceptibility to Barrett's esophagus and that SNP alleles predisposing to obesity also increase risk for Barrett's esophagus.
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| 4. |
- Rosenberg, Philip D., et al.
(author)
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Quantifying particle size and turbulent scale dependence of dust flux in the Sahara using aircraft measurements
- 2014
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In: Journal of Geophysical Research - Atmospheres. - 2169-897X .- 2169-8996. ; 119:12, s. 7577-7598
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Journal article (peer-reviewed)abstract
- The first size-resolved airborne measurements of dust fluxes and the first dust flux measurements from the central Sahara are presented and compared with a parameterization by Kok (2011a). High-frequency measurements of dust size distribution were obtained from 0.16 to 300 mu m diameter, and eddy covariance fluxes were derived. This is more than an order of magnitude larger size range than previous flux estimates. Links to surface emission are provided by analysis of particle drift velocities. Number flux is described by a -2 power law between 1 and 144 mu m diameter, significantly larger than the 12 mu m upper limit suggested by Kok (2011a). For small particles, the deviation from a power law varies with terrain type and the large size cutoff is correlated with atmospheric vertical turbulent kinetic energy, suggesting control by vertical transport rather than emission processes. The measured mass flux mode is in the range 30-100 mu m. The turbulent scales important for dust flux are from 0.1 km to 1-10 km. The upper scale increases during the morning as boundary layer depth and eddy size increase. All locations where large dust fluxes were measured had large topographical variations. These features are often linked with highly erodible surface features, such as wadis or dunes. We also hypothesize that upslope flow and flow separation over such features enhance the dust flux by transporting large particles out of the saltation layer. The tendency to locate surface flux measurements in open, flat terrain means these favored dust sources have been neglected in previous studies.
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| 5. |
- Sotiropoulou, Georgia, et al.
(author)
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The thermodynamic structure of summer Arctic stratocumulus and the dynamic coupling to the surface
- 2014
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In: Atmospheric Chemistry And Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 14:22, s. 12573-12592
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Journal article (peer-reviewed)abstract
- The vertical structure of Arctic low-level clouds and Arctic boundary layer is studied, using observations from ASCOS (Arctic Summer Cloud Ocean Study), in the central Arctic, in late summer 2008. Two general types of cloud structures are examined: the "neutrally stratified" and "stably stratified" clouds. Neutrally stratified are mixed-phase clouds where radiative-cooling near cloud top produces turbulence that generates a cloud-driven mixed layer. When this layer mixes with the surface-generated turbulence, the cloud layer is coupled to the surface, whereas when such an interaction does not occur, it remains decoupled; the latter state is most frequently observed. The decoupled clouds are usually higher compared to the coupled; differences in thickness or cloud water properties between the two cases are however not found. The surface fluxes are also very similar for both states. The decoupled clouds exhibit a bimodal thermodynamic structure, depending on the depth of the sub-cloud mixed layer (SCML): clouds with shallower SCMLs are disconnected from the surface by weak inversions, whereas those that lay over a deeper SCML are associated with stronger inversions at the decoupling height. Neutrally stratified clouds generally precipitate; the evaporation/sublimation of precipitation often enhances the decoupling state. Finally, stably stratified clouds are usually lower, geometrically and optically thinner, non-precipitating liquid-water clouds, not containing enough liquid to drive efficient mixing through cloud-top cooling.
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