| 1. |
- Aad, G, et al.
(författare)
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- 2015
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swepub:Mat__t
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| 2. |
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- 2019
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Tidskriftsartikel (refereegranskat)
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| 3. |
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| 4. |
- Tesi, B., et al.
(författare)
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Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis
- 2015
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Ingår i: Genome Medicine. - : Springer Science and Business Media LLC. - 1756-994X. ; 7:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: Hemophagocytic lymphohistiocytosis (HLH) is a rapid-onset, potentially fatal hyperinflammatory syndrome. A prompt molecular diagnosis is crucial for appropriate clinical management. Here, we validated and prospectively evaluated a targeted high-throughput sequencing approach for HLH diagnostics. Methods: A high-throughput sequencing strategy of 12 genes linked to HLH was validated in 13 patients with previously identified HLH-associated mutations and prospectively evaluated in 58 HLH patients. Moreover, 2504 healthy individuals from the 1000 Genomes project were analyzed in silico for variants in the same genes. Results: Analyses revealed a mutation detection sensitivity of 97.3 %, an average coverage per gene of 98.0 %, and adequate coverage over 98.6 % of sites previously reported as mutated in these genes. In the prospective cohort, we achieved a diagnosis in 22 out of 58 patients (38 %). Genetically undiagnosed HLH patients had a later age at onset and manifested higher frequencies of known secondary HLH triggers. Rare, putatively pathogenic monoallelic variants were identified in nine patients. However, such monoallelic variants were not enriched compared with healthy individuals. Conclusions: We have established a comprehensive high-throughput platform for genetic screening of patients with HLH. Almost all cases with reduced natural killer cell function received a diagnosis, but the majority of the prospective cases remain genetically unexplained, highlighting genetic heterogeneity and environmental impact within HLH. Moreover, in silico analyses of the genetic variation affecting HLH-related genes in the general population suggest caution with respect to interpreting causality between monoallelic mutations and HLH. A complete understanding of the genetic susceptibility to HLH thus requires further in-depth investigations, including genome sequencing and detailed immunological characterization.
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| 5. |
- Vogt, A., et al.
(författare)
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Isomers and high-spin structures in the N=81 isotones Xe-135 and Ba-137
- 2017
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Ingår i: PHYSICAL REVIEW C. - : AMER PHYSICAL SOC. - 2469-9985. ; 95:2
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Tidskriftsartikel (refereegranskat)abstract
- The high-spin structures and isomers of the N = 81 isotones Xe-135 and Ba-137 are investigated after multinucleon-transfer (MNT) and fusion-evaporation reactions. Both nuclei are populated (i) in Xe-136+ U-238 and (ii) Xe-136+ Pb-208 MNT reactions employing the high-resolution Advanced Gamma Tracking Array (AGATA) coupled to the magnetic spectrometer PRISMA, (iii) in the Xe-136+ Pt-198 MNT reaction employing the gamma-ray array GAMMASPHERE in combination with the gas-detector array CHICO, and (iv) via a B-11+ Te-130 fusion-evaporation reaction with the HORUS gamma-ray array at the University of Cologne. The high-spin level schemes of Xe-135 and Ba-137 are considerably extended to higher energies. The 2058-keV (19/2(-)) state in Xe-135 is identified as an isomer, closing a gap in the systematics along the N = 81 isotones. Its half-life is measured to be 9.0(9) ns, corresponding to a reduced transition probability of B(E2,19/2(-) -> 15/2(-)) = 0.52(6) W.u. The experimentally deduced reduced transition probabilities of the isomeric states are compared to shell-model predictions. Latest shell-model calculations reproduce the experimental findings generally well and provide guidance to the interpretation of the new levels.
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| 6. |
- Bouchal, Johannes M., 1979-
(författare)
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Reconciling the stratigraphy and depositional history of the Lycian orogen-top basins, SW Anatolia
- 2019
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Ingår i: Palaeobiodiversity and Palaeoenvironments. - Heidelberg : Springer Science and Business Media LLC. - 1867-1594 .- 1867-1608. ; 99, s. 551-570
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Tidskriftsartikel (refereegranskat)abstract
- Terrestrial fossil records from the SW Anatolian basins are crucial both for regional correlations and palaeoenvironmental reconstructions. By reassessing biostratigraphic constraints and incorporating new fossil data, we calibrated and reconstructed the late Neogene and Quaternary palaeoenvironments within a regional palaeogeographical framework. The culmination of the Taurides in SW Anatolia was followed by a regional crustal extension from the late Tortonian onwards that created a broad array of NE-trending orogen-top basins with synchronic associations of alluvial fan, fluvial and lacustrine deposits. The terrestrial basins are superimposed on the upper Burdigalian marine units with a c. 7 myr of hiatus that corresponds to a shift from regional shortening to extension. The initial infill of these basins is documented by a transition from marginal alluvial fans and axial fluvial systems into central shallow-perennial lakes coinciding with a climatic shift from warm/humid to arid conditions. The basal alluvial fan deposits abound in fossil macro-mammals of an early Turolian (MN11–12; late Tortonian) age. The Pliocene epoch in the region was punctuated by subhumid/humid conditions resulting in a rise of local base levels and expansion of lakes as evidenced by marsh-swamp deposits containing diverse fossilmammal assemblages indicating late Ruscinian (lateMN15; late Zanclean) age. A second pulse of extension, accompanied by regional climatic changes, prompted subsequent deepening of the lakes as manifested by thick and laterally extensive carbonate successions. These lakes, which prevailed c. 1 myr, later shrank due to renewed progradation of alluvial fans and eventually filled up and dried out, reflected by marsh-swamp deposits at the top of a complete lacustrine succession that contains diverse micro-mammal assemblages indicating a latest Villanyian (MN17; Gelasian) age. A third pulse of tectonic reorganisation and associated extension dissected the basins into their present-day configuration from the early Pleistocene onwards under warm/humid climatic conditions. The new age data provide means to correlate deposits across various basins in the region that help to place the basin development into a regional tectonic framework, which can be attributed to the consequence of the well-articulated regional phenomena of slab-tear/detachmentinduced uplift followed by crustal extension and basin formation (late Tortonian), the outward extension of the Aegean arc (early Pliocene) and eventually accompanied by westward extrusion of the Anatolian Plate (early Pleistocene).
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| 7. |
- Cserni, G, et al.
(författare)
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Consistency in recognizing microinvasion in breast carcinomas is improved by immunohistochemistry for myoepithelial markers.
- 2016
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Ingår i: Virchows Archiv: an international journal of pathology. - : Springer Science and Business Media LLC. - 1432-2307. ; 468:4, s. 473-481
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Tidskriftsartikel (refereegranskat)abstract
- Microinvasion is the smallest morphologically identifiable stage of invasion. Its presence and distinction from in situ carcinoma may have therapeutic implications, and clinical staging also requires the recognition of this phenomenon. Microinvasion is established on the basis of several morphological criteria, which may be difficult and not perfectly reproducible among pathologists. The aim of this study was to assess the consistency of diagnosing microinvasion in the breast on traditional haematoxylin and eosin (HE) stained slides and to evaluate whether immunohistochemistry (IHC) for myoepithelial markers could improve this. Digital images were generated from representative areas of 50 cases stained with HE and IHC for myoepithelial markers. Cases were specifically selected from the spectrum of in situ to microinvasive cancers. Twenty-eight dedicated breast pathologists assessed these cases at different magnifications through a web-based platform in two rounds: first HE only and after a washout period by both HE and IHC. Consistency in the recognition of microinvasion significantly improved with the use of IHC. Concordance rates increased from 0.85 to 0.96, kappa from 0.5 to 0.85, the number of cases with 100 % agreement rose from 9/50 to 25/50 with IHC and the certainty of diagnosis also increased. The use of IHC markedly improves the consistency of identifying microinvasion. This corroborates previous recommendations to use IHC for myoepithelial markers to clarify cases where uncertainty exists about the presence of microinvasion. Microinvasive carcinoma is a rare entity, and seeking a second opinion may avoid overdiagnosis.
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| 8. |
- Rosiak, D., et al.
(författare)
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Enhanced Quadrupole and Octupole Strength in Doubly Magic Sn 132
- 2018
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Ingår i: Physical Review Letters. - 0031-9007. ; 121:25
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Tidskriftsartikel (refereegranskat)abstract
- The first 2+ and 3- states of the doubly magic nucleus Sn132 are populated via safe Coulomb excitation employing the recently commissioned HIE-ISOLDE accelerator at CERN in conjunction with the highly efficient MINIBALL array. The Sn132 ions are accelerated to an energy of 5.49 MeV/nucleon and impinged on a Pb206 target. Deexciting γ rays from the low-lying excited states of the target and the projectile are recorded in coincidence with scattered particles. The reduced transition strengths are determined for the transitions 0g.s.+→21+, 0g.s.+→31-, and 21+→31- in Sn132. The results on these states provide crucial information on cross-shell configurations which are determined within large-scale shell-model and Monte Carlo shell-model calculations as well as from random-phase approximation and relativistic random-phase approximation. The locally enhanced B(E2;0g.s.+→21+) strength is consistent with the microscopic description of the structure of the respective states within all theoretical approaches. The presented results of experiment and theory can be considered to be the first direct verification of the sphericity and double magicity of Sn132.
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| 9. |
- Xin, H., et al.
(författare)
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Strong Influence of Coadsorbate Interaction on CO Desorption Dynamics on Ru(0001) Probed by Ultrafast X-Ray Spectroscopy and Ab Initio Simulations
- 2015
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Ingår i: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 114:15
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Tidskriftsartikel (refereegranskat)abstract
- We show that coadsorbed oxygen atoms have a dramatic influence on the CO desorption dynamics from Ru(0001). In contrast to the precursor-mediated desorption mechanism on Ru(0001), the presence of surface oxygen modifies the electronic structure of Ru atoms such that CO desorption occurs predominantly via the direct pathway. This phenomenon is directly observed in an ultrafast pump-probe experiment using a soft x-ray free-electron laser to monitor the dynamic evolution of the valence electronic structure of the surface species. This is supported with the potential of mean force along the CO desorption path obtained from density-functional theory calculations. Charge density distribution and frozen-orbital analysis suggest that the oxygen-induced reduction of the Pauli repulsion, and consequent increase of the dative interaction between the CO 5 sigma and the charged Ru atom, is the electronic origin of the distinct desorption dynamics. Ab initio molecular dynamics simulations of CO desorption from Ru(0001) and oxygen-coadsorbed Ru(0001) provide further insights into the surface bond-breaking process.
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| 10. |
- Östrom, Henrik, et al.
(författare)
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Probing the transition state region in catalytic CO oxidation on Ru
- 2015
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 347:6225, s. 978-982
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Tidskriftsartikel (refereegranskat)abstract
- Femtosecond x-ray laser pulses are used to probe the carbon monoxide (CO) oxidation reaction on ruthenium (Ru) initiated by an optical laser pulse. On a time scale of a few hundred femtoseconds, the optical laser pulse excites motions of CO and oxygen (O) on the surface, allowing the reactants to collide, and, with a transient close to a picosecond (ps), new electronic states appear in the OK-edge x-ray absorption spectrum. Density functional theory calculations indicate that these result from changes in the adsorption site and bond formation between CO and O with a distribution of OC-O bond lengths close to the transition state (TS). After 1 ps, 10% of the CO populate the TS region, which is consistent with predictions based on a quantum oscillator model.
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