| 1. |
- Beecham, Ashley H, et al.
(författare)
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Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
- 2013
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:11, s. 1353-60
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Tidskriftsartikel (refereegranskat)abstract
- Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10(-4)). In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls. In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 5.0 × 10(-8)), 3 of which we found after conditioning on previously identified variants. Thus, there are now 110 established multiple sclerosis risk variants at 103 discrete loci outside of the major histocompatibility complex. With high-resolution Bayesian fine mapping, we identified five regions where one variant accounted for more than 50% of the posterior probability of association. This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals.
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| 2. |
- Charlton, J. E., et al.
(författare)
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A sub-millimetre wave airborne demonstrator for the observation of precipitation and ice clouds
- 2010
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Ingår i: International Geoscience and Remote Sensing Symposium (IGARSS). - Piscataway, NJ : IEEE Communications Society. - 9781424433940 ; , s. 1023-1026
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Konferensbidrag (refereegranskat)abstract
- Sub-millimetre remote sensing instruments can provide critical information on cirrus clouds and an alternative way of measuring precipitation with a much smaller antenna than those which microwave sensors currently use. Two satellite concepts CIWSIR and GOMAS were proposed as ESA Earth Explorer missions; these were not funded, however they were recommended for an aircraft demonstrator. ESA studies have been performed to identify the optimum instrument and platform to demonstrate these satellite concepts. This paper reports on one of these preparatory activities; the design of a sub-millimetre wave airborne demonstrator for both ice cloud and precipitation observations which will be able to prove the feasibility of the scientific principles of both satellite missions. The paper will describe the derivation of the demonstrator requirements, consideration of the available platform and instrument options, the design of the selected concept, performance prediction and the outline of a proof of concept flight campaign. It will present the outcome of the study which describes a demonstrator design based upon the new Met Office International Sub-Millimetre Airborne Radiometer (ISMAR).
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| 3. |
- Buehler, Stefan, et al.
(författare)
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Observing ice clouds in the submillimeter spectral range: the CloudIce mission proposal for ESA's Earth Explorer 8
- 2012
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Ingår i: Atmospheric Measurement Techniques. - : Copernicus GmbH. - 1867-1381 .- 1867-8548. ; 5:7, s. 1529-1549
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Tidskriftsartikel (refereegranskat)abstract
- Passive submillimeter-wave sensors are a way to obtain urgently needed global data on ice clouds, particularly on the so far poorly characterized 'essential climate variable' ice water path (IWP) and on ice particle size. CloudIce was a mission proposal to the European Space Agency ESA in response to the call for Earth Explorer 8 (EE8), which ran in 2009/2010. It proposed a passive submillimeter-wave sensor with channels ranging from 183 GHz to 664 GHz. The article describes the CloudIce mission proposal, with particular emphasis on describing the algorithms for the data-analysis of submillimeter-wave cloud ice data (retrieval algorithms) and demonstrating their maturity. It is shown that we have a robust understanding of the radiative properties of cloud ice in the millimeter/submillimeter spectral range, and that we have a proven toolbox of retrieval algorithms to work with these data. Although the mission was not selected for EE8, the concept will be useful as a reference for other future mission proposals.
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| 4. |
- Galligani, V. S., et al.
(författare)
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Meso-scale modelling and radiative transfer simulations of a snowfall event over France at microwaves for passive and active modes and evaluation with satellite observations
- 2015
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Ingår i: Atmospheric Measurement Techniques. - : Copernicus GmbH. - 1867-1381 .- 1867-8548. ; 8:3, s. 1605-1616
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Tidskriftsartikel (refereegranskat)abstract
- Microwave passive and active radiative transfer simulations are performed with the Atmospheric Radiative Transfer Simulator (ARTS) for a mid-latitude snowfall event, using outputs from the Meso-NH mesoscale cloud model. The results are compared to the corresponding microwave observations available from MHS and CloudSat. The spatial structures of the simulated and observed brightness temperatures show an overall agreement since the large-scale dynamical structure of the cloud system is reasonably well captured by Meso-NH. However, with the initial assumptions on the single-scattering properties of snow, there is an obvious underestimation of the strong scattering observed in regions with large frozen hydrometeor quantities. A sensitivity analysis of both active and passive simulations to the microphysical parametrizations is conducted. Simultaneous analysis of passive and active calculations provides strong constraints on the assumptions made to simulate the observations. Good agreements are obtained with both MHS and CloudSat observations when the single-scattering properties are calculated using the 'soft sphere' parametrization from Liu (2004), along with the Meso-NH outputs. This is an important step toward building a robust data set of simulated measurements to train a statistically based retrieval scheme.
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| 5. |
- Galligani, V. S., et al.
(författare)
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The impact of the melting layer on the passive microwave cloud scattering signal observed from satellites: A study using TRMM microwave passive and active measurements
- 2013
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Ingår i: Journal of Geophysical Research. - : American Geophysical Union (AGU). - 0148-0227 .- 2156-2202 .- 2169-897X. ; 118:11, s. 5667-5678
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Tidskriftsartikel (refereegranskat)abstract
- Concurrent passive and active microwave measurements onboard the Tropical Rainfall Measurement Mission (TRMM) show that under cloudy conditions, when a melting layer is detected by the precipitation radar, a polarized scattering signal at 85GHz in passive mode is often observed. Radiative transfer simulations confirm the role of large horizontally oriented non-spherical particles on the polarized scattering signal and assess the effect of changes in particle phase, from solid ice to dry snow to melting snow, on the radiative properties. We conclude on the necessity to account for this polarization generated by the clouds in passive microwave rain retrievals and to use this specific signature to help diagnose the precipitation type and derive more accurate algorithms. In addition, analysis of the passive microwave polarized scattering is a unique way to get insight into microphysical properties of clouds at global scale, and this potential should be explored at millimeter and submillimeter frequencies that are more sensitive to the scattering generated by smaller particles.
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| 6. |
- Keller, Annika, et al.
(författare)
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Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:9, s. 1077-
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Tidskriftsartikel (refereegranskat)abstract
- Calcifications in the basal ganglia are a common incidental finding and are sometimes inherited as an autosomal dominant trait ( idiopathic basal ganglia calcification (IBGC)). Recently, mutations in the PDGFRB gene coding for the platelet-derived growth factor receptor beta (PDGF-R beta) were linked to IBGC. Here we identify six families of different ancestry with nonsense and missense mutations in the gene encoding PDGF-B, the main ligand for PDGF-R beta. We also show that mice carrying hypomorphic Pdgfb alleles develop brain calcifications that show age-related expansion. The occurrence of these calcium depositions depends on the loss of endothelial PDGF-B and correlates with the degree of pericyte and blood-brain barrier deficiency. Thus, our data present a clear link between Pdgfb mutations and brain calcifications in mice, as well as between PDGFB mutations and IBGC in humans.
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