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1.
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2.
  • Graf, Alexander, et al. (author)
  • Altered energy partitioning across terrestrial ecosystems in the European drought year 2018 : Energy partitioning in the drought 2018
  • 2020
  • In: Philosophical Transactions of the Royal Society B: Biological Sciences. - : The Royal Society. - 0962-8436 .- 1471-2970. ; 375:1810
  • Journal article (peer-reviewed)abstract
    • Drought and heat events, such as the 2018 European drought, interact with the exchange of energy between the land surface and the atmosphere, potentially affecting albedo, sensible and latent heat fluxes, as well as CO 2 exchange. Each of these quantities may aggravate or mitigate the drought, heat, their side effects on productivity, water scarcity and global warming. We used measurements of 56 eddy covariance sites across Europe to examine the response of fluxes to extreme drought prevailing most of the year 2018 and how the response differed across various ecosystem types (forests, grasslands, croplands and peatlands). Each component of the surface radiation and energy balance observed in 2018 was compared to available data per site during a reference period 2004-2017. Based on anomalies in precipitation and reference evapotranspiration, we classified 46 sites as drought affected. These received on average 9% more solar radiation and released 32% more sensible heat to the atmosphere compared to the mean of the reference period. In general, drought decreased net CO 2 uptake by 17.8%, but did not significantly change net evapotranspiration. The response of these fluxes differed characteristically between ecosystems; in particular, the general increase in the evaporative index was strongest in peatlands and weakest in croplands. This article is part of the theme issue 'Impacts of the 2018 severe drought and heatwave in Europe: from site to continental scale'.
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3.
  • Graf, Alexander, et al. (author)
  • Joint optimization of land carbon uptake and albedo can help achieve moderate instantaneous and long-term cooling effects
  • 2023
  • In: Communications Earth and Environment. - 2662-4435. ; 4:1
  • Journal article (peer-reviewed)abstract
    • Both carbon dioxide uptake and albedo of the land surface affect global climate. However, climate change mitigation by increasing carbon uptake can cause a warming trade-off by decreasing albedo, with most research focusing on afforestation and its interaction with snow. Here, we present carbon uptake and albedo observations from 176 globally distributed flux stations. We demonstrate a gradual decline in maximum achievable annual albedo as carbon uptake increases, even within subgroups of non-forest and snow-free ecosystems. Based on a paired-site permutation approach, we quantify the likely impact of land use on carbon uptake and albedo. Shifting to the maximum attainable carbon uptake at each site would likely cause moderate net global warming for the first approximately 20 years, followed by a strong cooling effect. A balanced policy co-optimizing carbon uptake and albedo is possible that avoids warming on any timescale, but results in a weaker long-term cooling effect.
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4.
  • Jung, Christian, et al. (author)
  • A comparison of very old patients admitted to intensive care unit after acute versus elective surgery or intervention
  • 2019
  • In: Journal of critical care. - : W B SAUNDERS CO-ELSEVIER INC. - 0883-9441 .- 1557-8615. ; 52, s. 141-148
  • Journal article (peer-reviewed)abstract
    • Background: We aimed to evaluate differences in outcome between patients admitted to intensive care unit (ICU) after elective versus acute surgery in a multinational cohort of very old patients (80 years; VIP). Predictors of mortality, with special emphasis on frailty, were assessed.Methods: In total, 5063 VIPs were induded in this analysis, 922 were admitted after elective surgery or intervention, 4141 acutely, with 402 after acute surgery. Differences were calculated using Mann-Whitney-U test and Wilcoxon test. Univariate and multivariable logistic regression were used to assess associations with mortality.Results: Compared patients admitted after acute surgery, patients admitted after elective surgery suffered less often from frailty as defined as CFS (28% vs 46%; p < 0.001), evidenced lower SOFA scores (4 +/- 5 vs 7 +/- 7; p < 0.001). Presence of frailty (CFS >4) was associated with significantly increased mortality both in elective surgery patients (7% vs 12%; p = 0.01), in acute surgery (7% vs 12%; p = 0.02).Conclusions: VIPs admitted to ICU after elective surgery evidenced favorable outcome over patients after acute surgery even after correction for relevant confounders. Frailty might be used to guide clinicians in risk stratification in both patients admitted after elective and acute surgery. 
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6.
  • Da Silva, Adrien (author)
  • Aspects of material and heat transfer in drop- and powder-based laser additive manufacturing
  • 2023
  • Doctoral thesis (other academic/artistic)abstract
    • Additive Manufacturing became a major research topic and part of industrial production in the past years. Numerous techniques now allow to build 3D structures with a wide choice of materials. When it comes to processing of metals, a laser beam is often used as a heat source to melt either a wire or powder. Novel approaches of material deposition are also developed, such as Laser Droplet Generation, which could potentially be applied to Additive Manufacturing. During the process, the laser beam light is partly absorbed by the material, and is then converted to heat, which can induce melting and even vaporization. Additive Manufacturing presents several processing challenges, such as the recoil pressure acting on the drops and powder particles that affects their trajectory. Storage and recycling of the powders is also an important aspect since the powder properties are changed through aging. Another challenge is the adjustment of process parameters according to varying deposition conditions, where the use of process monitoring techniques is crucial.Therefore, this thesis aims at better understanding (i) the effects of recoil pressureon metal drops and powder particles, (ii) powder aging and its effects on the process, and (iii) process optimisation and stability via monitoring. In the six adjoined papers, high-speed imaging and thermal imaging were used to observe laser Additive Manufacturing processes involving both metal drops and powders. The videos enabled to observe drop detachments, measure trajectories, plot powder density maps, quantify powder catchment in the melt pool, measure themelt pool geometry, detect oxides, and extract cooling rates. The experimental results were supplemented with material analysis and theoretical calculations of thermodynamics, recoil pressure and surface tension.These studies allowed to conclude that the recoil pressure induced by laser irradiation on a drop or a powder particle can have some significant effect such as acceleration, change of trajectory, or disintegration. However, these effects seem to be considerably lower than what theoretical models predict. It was also found that the recoil pressure can be used to accurately detach drops from a wire, which was utilised as a new material deposition method for Additive Manufacturing. In Directed Energy deposition, it was showed that aging of the aluminium powder feedstock should be avoided since it induces high porosity, high dilution and decreased mechanical properties. Finally, to guarantee a defect-free deposition during the whole process, it was demonstrated that a thermal camera can be used to monitor the melt pool size, which allows to apply appropriate laser power adjustments to compensate for changing building conditions.  
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7.
  • Engert, Andreas, et al. (author)
  • The European Hematology Association Roadmap for European Hematology Research : a consensus document
  • 2016
  • In: Haematologica. - Pavia, Italy : Ferrata Storti Foundation (Haematologica). - 0390-6078 .- 1592-8721. ; 101:2, s. 115-208
  • Journal article (peer-reviewed)abstract
    • The European Hematology Association (EHA) Roadmap for European Hematology Research highlights major achievements in diagnosis and treatment of blood disorders and identifies the greatest unmet clinical and scientific needs in those areas to enable better funded, more focused European hematology research. Initiated by the EHA, around 300 experts contributed to the consensus document, which will help European policy makers, research funders, research organizations, researchers, and patient groups make better informed decisions on hematology research. It also aims to raise public awareness of the burden of blood disorders on European society, which purely in economic terms is estimated at (sic)23 billion per year, a level of cost that is not matched in current European hematology research funding. In recent decades, hematology research has improved our fundamental understanding of the biology of blood disorders, and has improved diagnostics and treatments, sometimes in revolutionary ways. This progress highlights the potential of focused basic research programs such as this EHA Roadmap. The EHA Roadmap identifies nine 'sections' in hematology: normal hematopoiesis, malignant lymphoid and myeloid diseases, anemias and related diseases, platelet disorders, blood coagulation and hemostatic disorders, transfusion medicine, infections in hematology, and hematopoietic stem cell transplantation. These sections span 60 smaller groups of diseases or disorders. The EHA Roadmap identifies priorities and needs across the field of hematology, including those to develop targeted therapies based on genomic profiling and chemical biology, to eradicate minimal residual malignant disease, and to develop cellular immunotherapies, combination treatments, gene therapies, hematopoietic stem cell treatments, and treatments that are better tolerated by elderly patients.
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8.
  • Frank, Matthias, et al. (author)
  • Femtosecond X-ray diffraction from two-dimensional protein crystals
  • 2014
  • In: IUCrJ. - 2052-2525. ; 1:2, s. 95-100
  • Journal article (peer-reviewed)abstract
    • X-ray diffraction patterns from two-dimensional (2-D) protein crystals obtained using femtosecond X-ray pulses from an X-ray free-electron laser (XFEL) are presented. To date, it has not been possible to acquire transmission X-ray diffraction patterns from individual 2-D protein crystals due to radiation damage. However, the intense and ultrafast pulses generated by an XFEL permit a new method of collecting diffraction data before the sample is destroyed. Utilizing a diffract-before-destroy approach at the Linac Coherent Light Source, Bragg diffraction was acquired to better than 8.5 Å resolution for two different 2-D protein crystal samples each less than 10 nm thick and maintained at room temperature. These proof-of-principle results show promise for structural analysis of both soluble and membrane proteins arranged as 2-D crystals without requiring cryogenic conditions or the formation of three-dimensional crystals.
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9.
  • Freischmidt, Axel, et al. (author)
  • Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
  • 2015
  • In: Nature Neuroscience. - : Springer Science and Business Media LLC. - 1097-6256 .- 1546-1726. ; 18:5, s. 631-
  • Journal article (peer-reviewed)abstract
    • Amyotrophic lateral sclerosis (ALS) is a genetically heterogeneous neurodegenerative syndrome hallmarked by adult-onset loss of motor neurons. We performed exome sequencing of 252 familial ALS (fALS) and 827 control individuals. Gene-based rare variant analysis identified an exome-wide significant enrichment of eight loss-of-function (LoF) mutations in TBK1 (encoding TANK-binding kinase 1) in 13 fALS pedigrees. No enrichment of LoF mutations was observed in a targeted mutation screen of 1,010 sporadic ALS and 650 additional control individuals. Linkage analysis in four families gave an aggregate LOD score of 4.6. In vitro experiments confirmed the loss of expression of TBK1 LoF mutant alleles, or loss of interaction of the C-terminal TBK1 coiled-coil domain (CCD2) mutants with the TBK1 adaptor protein optineurin, which has been shown to be involved in ALS pathogenesis. We conclude that haploinsufficiency of TBK1 causes ALS and fronto-temporal dementia.
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10.
  • Guy, Lionel, et al. (author)
  • Low-coverage pyrosequencing reveals recombination and run-off replication in Bartonella henselae strains
  • Other publication (other academic/artistic)abstract
    • Bartonella henselae is a natural intracellular colonizer of cats, and is transferred by blood-sucking insect vectors. It is also an opportunistic human pathogen. Two strains of B. henselae, thought to be representative of the diversity of the species, were selected for low-coverage 454 sequencing. The comparison of these two strains to the published Houston-1 reveals very high nucleotide identity and low substitution and recombination, with the remarkable exception of phages and host-interaction genes such as type IV and V secretion systems. Among the few variable genes of unknown function, BH14680, an alpha-Proteobacteria-specific gene, shows faster evolution in Bartonella compared to other alpha-Proteobacteria. Its 5’ end, which is likely coding for a domain exposed extracellularly, is under positive or very relaxed selection, and might be involved in host-interaction processes. Finally, we show that a simple genome coverage analysis reveal major genomic events such as duplications and unusual replication modes, such as the run-off replication. The latter, combined with a gene transfer agent, is thought to be a novel way to increase substitution and recombination frequencies. An extensive analysis of all bacterial pyrosequencing projects showed that it is probably Bartonella-specific.
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11.
  • Hunter, Mark S, et al. (author)
  • Fixed-target protein serial microcrystallography with an x-ray free electron laser.
  • 2014
  • In: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 4, s. 6026-
  • Journal article (peer-reviewed)abstract
    • We present results from experiments at the Linac Coherent Light Source (LCLS) demonstrating that serial femtosecond crystallography (SFX) can be performed to high resolution (~2.5 Å) using protein microcrystals deposited on an ultra-thin silicon nitride membrane and embedded in a preservation medium at room temperature. Data can be acquired at a high acquisition rate using x-ray free electron laser sources to overcome radiation damage, while sample consumption is dramatically reduced compared to flowing jet methods. We achieved a peak data acquisition rate of 10 Hz with a hit rate of ~38%, indicating that a complete data set could be acquired in about one 12-hour LCLS shift using the setup described here, or in even less time using hardware optimized for fixed target SFX. This demonstration opens the door to ultra low sample consumption SFX using the technique of diffraction-before-destruction on proteins that exist in only small quantities and/or do not produce the copious quantities of microcrystals required for flowing jet methods.
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12.
  • Johnston, Alice S.A., et al. (author)
  • Temperature thresholds of ecosystem respiration at a global scale
  • 2021
  • In: Nature Ecology and Evolution. - : Springer Science and Business Media LLC. - 2397-334X. ; 5:4, s. 487-494
  • Journal article (peer-reviewed)abstract
    • Ecosystem respiration is a major component of the global terrestrial carbon cycle and is strongly influenced by temperature. The global extent of the temperature–ecosystem respiration relationship, however, has not been fully explored. Here, we test linear and threshold models of ecosystem respiration across 210 globally distributed eddy covariance sites over an extensive temperature range. We find thresholds to the global temperature–ecosystem respiration relationship at high and low air temperatures and mid soil temperatures, which represent transitions in the temperature dependence and sensitivity of ecosystem respiration. Annual ecosystem respiration rates show a markedly reduced temperature dependence and sensitivity compared to half-hourly rates, and a single mid-temperature threshold for both air and soil temperature. Our study indicates a distinction in the influence of environmental factors, including temperature, on ecosystem respiration between latitudinal and climate gradients at short (half-hourly) and long (annual) timescales. Such climatological differences in the temperature sensitivity of ecosystem respiration have important consequences for the terrestrial net carbon sink under ongoing climate change.
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13.
  • Liu, Qingcao, et al. (author)
  • Ionization-Induced Subcycle Metallization of Nanoparticles in Few-Cycle Pulses
  • 2020
  • In: ACS Photonics. - : American Chemical Society (ACS). - 2330-4022. ; 7:11, s. 3207-3215
  • Journal article (peer-reviewed)abstract
    • Strong-field laser-matter interactions in nanoscale targets offer unique avenues for the generation and detailed characterization of matter under extreme conditions. Field-driven, subcycle ionization-induced metallization of nanoscale solids in intense laser fields has been predicted (Peltz et al. Time-Resolved X-ray Imaging of Anisotropic Nanoplasma Expansion. Phys. Rev. Lett. 2014, 113, 133401), but its observation was hampered by a lack of a smoking gun. Here, we report the ultrafast metallization of isolated dielectric and semiconducting nanoparticles under intense few-cycle laser pulses. The highest-energy electron emission is found to be a decisive proof that shows a characteristic cutoff modification to a metallic limit for intensities high enough to ignite carrier avalanching in the volume of the particles. Semiclassical Mean-field Mie Monte-Carlo transport simulations reveal the underlying dynamics and explain the observed evolution by near-field driven electron backscattering from the metallizing target.
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14.
  • Lübking, Anna, et al. (author)
  • Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation
  • 2015
  • In: Leukemia Research Reports. - : Elsevier. - 2213-0489. ; 4:2, s. 72-75
  • Journal article (peer-reviewed)abstract
    • Heterozygous mutations in GATA2 underlie different syndromes, previously described as monocytopenia and mycobacterial avium complex infection (MonoMAC); dendritic cell, monocytes, B- and NK lymphocytes deficiency (DCML); lymphedema, deafness and myelodysplasia (Emberger syndrome) and familiar myelodysplastic syndrome/acute myeloid leukemia (MDS / AML). Onset and severity of clinical symptoms vary and preceding cytopenias are not always present. We describe a case of symptomatic DCML deficiency and rather discrete bone marrow findings due to GATA2 mutation. Exome sequencing revealed a somatic ASXL1 mutation and the patient underwent allogeneic stem cell transplantation successfully. © 2015.
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15.
  • Margolskee, Alison, et al. (author)
  • IMI - oral biopharmaceutics tools project - evaluation of bottom-up PBPK prediction success part 1 : Characterisation of the OrBiTo database of compounds
  • 2017
  • In: European Journal of Pharmaceutical Sciences. - : Elsevier BV. - 0928-0987 .- 1879-0720. ; 96, s. 598-609
  • Journal article (peer-reviewed)abstract
    • Predicting oral bioavailability (F-oral) is of importance for estimating systemic exposure of orally administered drugs. Physiologically-based pharmacokinetic (PBPK) modelling and simulation have been applied extensively in biopharmaceutics recently. The Oral Biopharmaceutical Tools (OrBiTo) project (Innovative Medicines Initiative) aims to develop and improve upon biopharmaceutical tools, including PBPK absorption models. A large-scale evaluation of PBPK models may be considered the first step. Here we characterise the OrBiTo active pharmaceutical ingredient (API) database for use in a large-scale simulation study. The OrBiTo database comprised 83 APIs and 1475 study arms. The database displayed a median logP of 3.60 (2.40-4.58), human blood-to-plasma ratio of 0.62 (0.57-0.71), and fraction unbound in plasma of 0.05 (0.01-0.17). The database mainly consisted of basic compounds (48.19%) and Biopharmaceutics Classification System class II compounds (55.81%). Median human intravenous clearance was 16.9 L/h (interquartile range: 11.6-43.6 L/h; n = 23), volume of distribution was 80.8 L (54.5-239 L; n = 23). The majority of oral formulations were immediate release (IR: 87.6%). Human Foral displayed a median of 0.415 (0.203-0.724; n = 22) for IR formulations. The OrBiTo database was found to be largely representative of previously published datasets. 43 of the APIs were found to satisfy the minimum inclusion criteria for the simulation exercise, and many of these have significant gaps of other key parameters, which could potentially impact the interpretability of the simulation outcome. However, the OrBiTo simulation exercise represents a unique opportunity to perform a large-scale evaluation of the PBPK approach to predicting oral biopharmaceutics.
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16.
  • Nussinov, Zohar, et al. (author)
  • Mapping between finite temperature classical and zero temperature quantum systems : Quantum critical jamming and quantum dynamical heterogeneities
  • 2013
  • In: Physical Review B. Condensed Matter and Materials Physics. - 1098-0121 .- 1550-235X. ; 87:18, s. 184202-
  • Journal article (peer-reviewed)abstract
    • Many electronic systems (e. g., the cuprate superconductors and heavy fermions) exhibit striking features in their dynamical response over a prominent range of experimental parameters. While there are some empirical suggestions of particular increasing length scales that accompany such transitions in some cases, this identification is not universal and in numerous instances no large correlation length is evident. To better understand, as a matter of principle, such behavior in quantum systems, we extend a known mapping (earlier studied in stochastic or supersymmetric quantum mechanics) between finite temperature classical Fokker-Planck systems and related quantum systems at zero temperature to include general nonequilibrium dynamics. Unlike Feynman mappings or stochastic quantization methods in field theories (as well as more recent holographic type dualities), the classical systems that we consider and their quantum duals reside in the same number of space-time dimensions. The upshot of our very broad and rigorous result is that a Wick rotation exactly relates (i) the dynamics in general finite temperature classical dissipative systems to (ii) zero temperature dynamics in the corresponding dual many-body quantum systems. Using this correspondence, we illustrate that, even in the absence of imposed disorder, many continuum quantum fluid systems (and possible lattice counterparts) may exhibit a zero-point quantum dynamical heterogeneity wherein the dynamics, at a given instant, is spatially nonuniform. While the static length scales accompanying this phenomenon do not seem to exhibit a clear divergence in standard correlation functions, the length scale of the dynamical heterogeneities can increase dramatically. We further study quantum jamming and illustrate how a hard-core bosonic system can undergo a zero temperature quantum critical metal-to-insulator-type transition with an extremely large effective dynamical exponent z > 4 that is consistent with length scales that increase far more slowly than the relaxation time as a putative critical transition is approached. Similar results may hold for spin-liquid-type as well as interacting electronic systems. We suggest ways to analyze experimental data in order to adduce such phenomena. Our approach may be used to analyze other quenched quantum systems.
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17.
  • Rebmann, Corinna, et al. (author)
  • ICOS eddy covariance flux-station site setup : A review
  • 2018
  • In: International Agrophysics. - : Walter de Gruyter GmbH. - 0236-8722 .- 2300-8725. ; 32:4, s. 471-494
  • Research review (peer-reviewed)abstract
    • The Integrated Carbon Observation System Research Infrastructure aims to provide long-Term, continuous observations of sources and sinks of greenhouse gases such as carbon dioxide, methane, nitrous oxide, and water vapour. At ICOS ecosystem stations, the principal technique for measurements of ecosystem-Atmosphere exchange of GHGs is the eddy-covariance technique. The establishment and setup of an eddy-covariance tower have to be carefully reasoned to ensure high quality flux measurements being representative of the investigated ecosystem and comparable to measurements at other stations. To fulfill the requirements needed for flux determination with the eddy-covariance technique, variations in GHG concentrations have to be measured at high frequency, simultaneously with the wind velocity, in order to fully capture turbulent fluctuations. This requires the use of high-frequency gas analysers and ultrasonic anemometers. In addition, to analyse flux data with respect to environmental conditions but also to enable corrections in the post-processing procedures, it is necessary to measure additional abiotic variables in close vicinity to the flux measurements. Here we describe the standards the ICOS ecosystem station network has adopted for GHG flux measurements with respect to the setup of instrumentation on towers to maximize measurement precision and accuracy while allowing for flexibility in order to observe specific ecosystem features.
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18.
  • Reinthaler, Eva M., et al. (author)
  • TPP2 mutation associated with sterile brain inflammation mimicking MS
  • 2018
  • In: NEUROLOGY-GENETICS. - 2376-7839. ; 4:6
  • Journal article (peer-reviewed)abstract
    • Objective To ascertain the genetic cause of a consanguineous family from Syria suffering from a sterile brain inflammation mimicking a mild nonprogressive form of MS.Methods We used homozygosity mapping and next-generation sequencing to detect the disease-causing gene in the affected siblings. In addition, we performed RNA and protein expression studies, enzymatic activity assays, immunohistochemistry, and targeted sequencing of further MS cases from Austria, Germany, Canada and Jordan.Results In this study, we describe the identification of a homozygous missense mutation (c.82T>G, p.Cys28Gly) in the tripeptidyl peptidase II (TPP2) gene in all 3 affected siblings of the family. Sequencing of all TPP2-coding exons in 826 MS cases identified one further homozygous missense variant (c.2027C>T, p.Thr676Ile) in a Jordanian MS patient. TPP2 protein expression in whole blood was reduced in the affected siblings. In contrast, TPP2 protein expression in postmortem brain tissue from MS patients without TPP2 mutations was highly upregulated.Conclusions The homozygous TPP2 mutation (p.Cys28Gly) is likely responsible for the inflammation phenotype in this family. TPP2 is an ubiquitously expressed serine peptidase that removes tripeptides from the N-terminal end of longer peptides. TPP2 is involved in various biological processes including the destruction of major histocompatibility complex Class I epitopes. Recessive loss-of-function mutations in TPP2 were described in patients with Evans syndrome, a rare autoimmune disease affecting the hematopoietic system. Based on the gene expression results in our MS autopsy brain samples, we further suggest that TPP2 may play a broader role in the inflammatory process in MS.
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19.
  • Rohringer, Nina, et al. (author)
  • Atomic and Molecular Inner-Shell X-Ray Lasers
  • 2012
  • In: Frontiers in Optics 2012/Laser Science XXVIII. - : OSA. - 9781557529565
  • Conference paper (peer-reviewed)abstract
    • We present experimental results on the first realization of an atomic inner-shell x-ray laser and x-ray Raman laser in the KeV photon-energy regime in Neon. Extension of the scheme to diatomic molecules is discussed.
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20.
  • Shirer, K. R., et al. (author)
  • Nuclear magnetic resonance studies of pseudospin fluctuations in URu2Si2
  • 2013
  • In: Physical Review B. Condensed Matter and Materials Physics. - 1098-0121 .- 1550-235X. ; 88:9, s. 094436-
  • Journal article (peer-reviewed)abstract
    • We report Si-29 nuclear magnetic resonance measurements in single crystals and aligned powders of URu2Si2 in the hidden order and paramagnetic phases. The spin-lattice relaxation data reveal evidence of pseudospin fluctuations of U moments in the paramagnetic phase. We find evidence for partial suppression of the density of states below 30 K and analyze the data in terms of a two-component spin-fermion model. We propose that this behavior is a realization of a pseudogap between the hidden-order transition T-HO and 30 K. This behavior is then compared to other materials that demonstrate precursor fluctuations in a pseudogap regime above a ground state with long-range order.
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21.
  • Steinleitner, Philipp, et al. (author)
  • Dielectric Engineering of Electronic Correlations in a van der Waals Heterostructure
  • 2018
  • In: Nano Letters. - : American Chemical Society (ACS). - 1530-6992 .- 1530-6984. ; 18:2, s. 1402-1409
  • Journal article (peer-reviewed)abstract
    • Heterostructures of van der Waals bonded layered materials offer unique means to tailor dielectric screening with atomic-layer precision, opening a fertile field of fundamental research. The optical analyses used so far have relied on interband spectroscopy. Here we demonstrate how a capping layer of hexagonal boron nitride (hBN) renormalizes the internal structure of excitons in a WSe 2 monolayer using intraband transitions. Ultrabroadband terahertz probes sensitively map out the full complex-valued mid-infrared conductivity of the heterostructure after optical injection of 1s A excitons. This approach allows us to trace the energies and line widths of the atom-like 1s-2p transition of optically bright and dark excitons as well as the densities of these quasiparticles. The excitonic resonance red shifts and narrows in the WSe 2 /hBN heterostructure compared to the bare monolayer. Furthermore, the ultrafast temporal evolution of the mid-infrared response function evidences the formation of optically dark excitons from an initial bright population. Our results provide key insight into the effect of nonlocal screening on electron-hole correlations and open new possibilities of dielectric engineering of van der Waals heterostructures.
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22.
  • Winkelmann, Juliane, et al. (author)
  • Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy
  • 2012
  • In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 21:10, s. 2205-2210
  • Journal article (peer-reviewed)abstract
    • Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is characterized by late onset (30-40 years old) cerebellar ataxia, sensory neuronal deafness, narcolepsy-cataplexy and dementia. We performed exome sequencing in five individuals from three ADCA-DN kindreds and identified DNMT1 as the only gene with mutations found in all five affected individuals. Sanger sequencing confirmed the de novo mutation p.Ala570Val in one family, and showed co-segregation of p.Val606Phe and p.Ala570Val, with the ADCA-DN phenotype, in two other kindreds. An additional ADCA-DN kindred with a p.GLY605Ala mutation was subsequently identified. Narcolepsy and deafness were the first symptoms to appear in all pedigrees, followed by ataxia. DNMT1 is a widely expressed DNA methyltransferase maintaining methylation patterns in development, and mediating transcriptional repression by direct binding to HDAC2. It is also highly expressed in immune cells and required for the differentiation of CD4+ into T regulatory cells. Mutations in exon 20 of this gene were recently reported to cause hereditary sensory neuropathy with dementia and hearing loss (HSAN1). Our mutations are all located in exon 21 and in very close spatial proximity, suggesting distinct phenotypes depending on mutation location within this gene.
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23.
  • Zhou, Caizhi, et al. (author)
  • Plastic response of dislocation glide in solid helium under dc strain-rate loading
  • 2013
  • In: Physical Review B. Condensed Matter and Materials Physics. - 1098-0121 .- 1550-235X. ; 88:2, s. 024513-
  • Journal article (peer-reviewed)abstract
    • We develop a model for the gliding of dislocations and plasticity in solid He-4. This model takes into account the Peierls barrier, multiplication and interaction of dislocations, as well as classical thermally and mechanically activated processes leading to dislocation glide. We specifically examine the dc stress-strain curve and how it is affected by temperature, strain rate, and dislocation density. As a function of temperature and shear strain, we observe plastic deformation and discuss how this may be related to the experimental observation of elastic anomalies in solid hcp He-4 that have been discussed in connection with the possibility of supersolidity or giant plasticity. Our theory gives several predictions for the dc stress strain curves, for example, the yield point and the change in the work-hardening rate and plastic dissipation peak, that can be compared directly to constant strain-rate experiments and thus provide bounds on model parameters.
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