| 1. |
- Thompson, B.A., et al.
(författare)
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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
- 2014
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:2, s. 107-115
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Tidskriftsartikel (refereegranskat)abstract
- The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases. © 2014 Nature America, Inc.
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| 2. |
- Horikoshi, Momoko, et al.
(författare)
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New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:1
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Tidskriftsartikel (refereegranskat)abstract
- Birth weight within the normal range is associated with a variety of adult-onset diseases, but the mechanisms behind these associations are poorly understood. Previous genome-wide association studies of birth weight identified a variant in the ADCY5 gene associated both with birth weight and type 2 diabetes and a second variant, near CCNL1, with no obvious link to adult traits. In an expanded genome-wide association meta-analysis and follow-up study of birth weight (of up to 69,308 individuals of European descent from 43 studies), we have now extended the number of loci associated at genome-wide significance to 7, accounting for a similar proportion of variance as maternal smoking. Five of the loci are known to be associated with other phenotypes: ADCY5 and CDKAL1 with type 2 diabetes, ADRB1 with adult blood pressure and HMGA2 and LCORL with adult height. Our findings highlight genetic links between fetal growth and postnatal growth and metabolism.
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| 3. |
- Schwab, M. B., et al.
(författare)
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Few-cycle optical probe-pulse for investigation of relativistic laser-plasma interactions
- 2013
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Ingår i: Applied Physics Letters. - : American Institute of Physics (AIP). - 0003-6951 .- 1077-3118. ; 103:19
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Tidskriftsartikel (refereegranskat)abstract
- The development of a few-cycle optical probe-pulse for the investigation of laser-plasma interactions driven by a Ti:sapphire, 30 Terawatt (TW) laser system is described. The probe is seeded by a fraction of the driving laser's energy and is spectrally broadened via self-phase modulation in a hollow core fiber filled with a rare gas, then temporally compressed to a few optical cycles via chirped mirrors. Shadowgrams of the laser-driven plasma wave created in relativistic electron acceleration experiments are presented with few-fs temporal resolution, which is shown to be independent of post-interaction spectral filtering of the probe-beam.
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| 4. |
- Wauters, T., et al.
(författare)
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Hydrogen ion cyclotron wall conditioning for fuel removal on TEXTOR and ASDEX upgrade
- 2012
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Ingår i: 39th EPS Conference on Plasma Physics 2012, EPS 2012 and the 16th International Congress on Plasma Physics. - 9781622769810 ; , s. 1378-1381
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Konferensbidrag (refereegranskat)abstract
- Ion Cyclotron Wall Conditioning (ICWC), applicable in presence of the toroidal magnetic field, is envisaged in ITER to recover from disruptions, leaks and torus vents, for recycling control and for fuel removal. Various experiments on different devices as well as modeling efforts are advancing to consolidate this technique. This contribution focuses on a selection of recent hydrogen ICWC experiments on ASDEX Upgrade and TEXTOR. The ASDEX Upgrade experiment aimed at comparing isotopic exchange efficiencies previously obtained on Carbon devices to the ITER relevant Tungsten wall. The experiment on TEXTOR aimed at assessing the performance of H2-ICWC for codeposited layer removal. The latter being a particular important fuel removal aspect since it is predicted that a major part of tritium in-vessel inventory build-up on ITER will be due to the formation of tritium rich codeposited layers.
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| 5. |
- Willerslev, E, et al.
(författare)
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Fifty thousand years of arctic vegetation change and megafauna diet
- 2014
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 506:7486, s. 47-47
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Tidskriftsartikel (refereegranskat)abstract
- Although it is generally agreed that the Arctic flora is among the youngest and least diverse on Earth, the processes that shaped it are poorly understood. Here we present 50 thousand years (kyr) of Arctic vegetation history, derived from the first large-scale ancient DNA metabarcoding study of circumpolar plant diversity. For this interval we also explore nematode diversity as a proxy for modelling vegetation cover and soil quality, and diets of herbivorous megafaunal mammals, many of which became extinct around 10 kyr bp (before present). For much of the period investigated, Arctic vegetation consisted of dry steppe-tundra dominated by forbs (non-graminoid herbaceous vascular plants). During the Last Glacial Maximum (25–15 kyr bp), diversity declined markedly, although forbs remained dominant. Much changed after 10 kyr bp, with the appearance of moist tundra dominated by woody plants and graminoids. Our analyses indicate that both graminoids and forbs would have featured in megafaunal diets. As such, our findings question the predominance of a Late Quaternary graminoid-dominated Arctic mammoth steppe.
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| 6. |
- Browse, John A., et al.
(författare)
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Respiration and Lipid Metabolism
- 2014. - 6th ed.
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Ingår i: Plant Physiology and Development. - 9781605352558 - 9781605354354 ; , s. 317-352
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Bokkapitel (refereegranskat)
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| 7. |
- Hasan, A, et al.
(författare)
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World Federation of Societies of Biological Psychiatry (WFSBP) Guidelines for Biological Treatment of Schizophrenia : Part 1: Update 2012 on the acute treatment of schizophrenia and the management of treatment resistance.
- 2012
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Ingår i: The World Journal of Biological Psychiatry. - : Informa UK Limited. - 1562-2975 .- 1814-1412. ; 13:5, s. 318-378
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Tidskriftsartikel (refereegranskat)abstract
- These updated guidelines are based on a first edition of the World Federation of Societies of Biological Psychiatry Guidelines for Biological Treatment of Schizophrenia published in 2005. For this 2012 revision, all available publications pertaining to the biological treatment of schizophrenia were reviewed systematically to allow for an evidence-based update. These guidelines provide evidence-based practice recommendations that are clinically and scientifically meaningful and these guidelines are intended to be used by all physicians diagnosing and treating people suffering from schizophrenia. Based on the first version of these guidelines, a systematic review of the MEDLINE/PUBMED database and the Cochrane Library, in addition to data extraction from national treatment guidelines, has been performed for this update. The identified literature was evaluated with respect to the strength of evidence for its efficacy and then categorised into six levels of evidence (A–F; Bandelow et al. 2008b, World J Biol Psychiatry 9:242). This first part of the updated guidelines covers the general descriptions of antipsychotics and their side effects, the biological treatment of acute schizophrenia and the management of treatment-resistant schizophrenia.
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| 8. |
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| 9. |
- Thomas, H., et al.
(författare)
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Explosions of Xenon Clusters in Ultraintense Femtosecond X-Ray Pulses from the LCLS Free Electron Laser
- 2012
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Ingår i: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 108:13
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Tidskriftsartikel (refereegranskat)abstract
- Explosions of large Xe clusters (< N > similar to 11 000) irradiated by femtosecond pulses of 850 eV x-ray photons focused to an intensity of up to 1017 W/cm(2) from the Linac Coherent Light Source were investigated experimentally. Measurements of ion charge-state distributions and energy spectra exhibit strong evidence for the formation of a Xe nanoplasma in the intense x-ray pulse. This x-ray produced Xe nanoplasma is accompanied by a three-body recombination and hydrodynamic expansion. These experimental results appear to be consistent with a model in which a spherically exploding nanoplasma is formed inside the Xe cluster and where the plasma temperature is determined by photoionization heating.
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| 10. |
- Wauters, T., et al.
(författare)
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Self-consistent application of ion cyclotron wall conditioning for co-deposited layer removal and recovery of tokamak operation on TEXTOR
- 2013
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Ingår i: Nuclear Fusion. - : Institute of Physics (IOP). - 0029-5515 .- 1741-4326. ; 53:12, s. 123001-
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Tidskriftsartikel (refereegranskat)abstract
- This paper presents a demonstration experiment of ion cyclotron wall conditioning (ICWC) on TEXTOR covering all ITER wall conditioning aims and discusses the implications for ITER. O-2/He-ICWC applied to erode carbon co-deposits removed 6.6x10(21) C-atoms (39 pulses, 158 s cumulated discharge time). Large oxygen retention (71% of injected oxygen) prevented subsequent ohmic discharge initiation. Plasma operation was recovered by a 1h47 multi-pulse D-2-ICWC procedure including pumping time between pulses with duty cycle of 2 s/20 s, cleaning the vessel from oxygen impurities, followed by a 23 min He-ICWC procedure (2 s/20 s), applied to desaturate the deuterium-loaded walls. A stable ohmic discharge was established on the first attempt right after the recovery procedure. The discharges showed improved density control and only slightly increased oxygen characteristic radiation levels (1-1.5 times). After the recovery procedure 36% of the injected O-atoms remained retained in the vessel, derived from mass spectrometry measurements. This amount is in the estimated range for storage in remote areas obtained from surface analysis of locally exposed samples. The removed amount of oxygen by D-2 and He-ICWC obtained from mass spectrometry corresponds to the retention in plasma-wetted areas estimated by surface analysis. It is concluded that most of the removed oxygen stems from plasma-wetted areas while shadowed areas, e. g. behind poloidal limiters, may feature net retention of the discharge gas. On ITER, designed with a shaped first wall, the ICWC plasma-wetted area will approach the total surface area, reducing consequently the retention in remote areas. A tentative extrapolation of the carbon removal on TEXTOR to tritium removal from co-deposits on ITER in the 39 x 4 s O-2/He-ICWC discharges, including pumping time between the RF pulses, corresponds on ITER to a tritium removal in the order of the estimated retention per 400 s DT-burn (140-500 mgT (Shimada and Pitts 2011 J. Nucl. Mater. 415 S1013-6)).
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