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1.
  • Acharya, B. S., et al. (author)
  • Introducing the CTA concept
  • 2013
  • In: Astroparticle physics. - : Elsevier BV. - 0927-6505 .- 1873-2852. ; 43, s. 3-18
  • Journal article (other academic/artistic)abstract
    • The Cherenkov Telescope Array (CTA) is a new observatory for very high-energy (VHE) gamma rays. CTA has ambitions science goals, for which it is necessary to achieve full-sky coverage, to improve the sensitivity by about an order of magnitude, to span about four decades of energy, from a few tens of GeV to above 100 TeV with enhanced angular and energy resolutions over existing VHE gamma-ray observatories. An international collaboration has formed with more than 1000 members from 27 countries in Europe, Asia, Africa and North and South America. In 2010 the CTA Consortium completed a Design Study and started a three-year Preparatory Phase which leads to production readiness of CTA in 2014. In this paper we introduce the science goals and the concept of CTA, and provide an overview of the project. (C) 2013 Elsevier B.V. All rights reserved.
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2.
  • Actis, M., et al. (author)
  • Design concepts for the Cherenkov Telescope Array CTA : an advanced facility for ground-based high-energy gamma-ray astronomy
  • 2011
  • In: Experimental astronomy. - : Springer. - 0922-6435 .- 1572-9508. ; 32:3, s. 193-316
  • Journal article (peer-reviewed)abstract
    • Ground-based gamma-ray astronomy has had a major breakthrough with the impressive results obtained using systems of imaging atmospheric Cherenkov telescopes. Ground-based gamma-ray astronomy has a huge potential in astrophysics, particle physics and cosmology. CTA is an international initiative to build the next generation instrument, with a factor of 5-10 improvement in sensitivity in the 100 GeV-10 TeV range and the extension to energies well below 100 GeV and above 100 TeV. CTA will consist of two arrays (one in the north, one in the south) for full sky coverage and will be operated as open observatory. The design of CTA is based on currently available technology. This document reports on the status and presents the major design concepts of CTA.
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3.
  • Ferreira, MA, et al. (author)
  • Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
  • 2019
  • In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 1741-
  • Journal article (peer-reviewed)abstract
    • Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer.
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4.
  • Biazar, C., et al. (author)
  • Cutaneous lupus erythematosus : First multicenter database analysis of 1002 patients from the European Society of Cutaneous Lupus Erythematosus (EUSCLE)
  • 2013
  • In: Autoimmunity Reviews. - : Elsevier BV. - 1568-9972 .- 1873-0183. ; 12:3, s. 444-454
  • Research review (peer-reviewed)abstract
    • In this prospective, cross-sectional, multicenter study, we assessed clinical and laboratory characteristics from patients with cutaneous lupus erythematosus (CLE) using the Core Set Questionnaire of the European Society of Cutaneous Lupus Erythematosus (EUSCLE). 1002 (768 females, 234 males) patients with different subtypes of CLE, such as acute CLE (ACLE, 304 patients), subacute CLE (SCLE, 236 patients), chronic CLE (CCLE, 397 patients), and intermittent CLE (ICLE, 65 patients), from 13 European countries were collected and statistically analyzed by an SPSS database. The main outcome measures included gender, age at onset of disease, LE-specific and LE-nonspecific skin lesions, photosensitivity, laboratory features, and the criteria of the American College of Rheumatology (ACR) for the classification of systemic lupus erythematosus. The mean age at onset of disease was 43.0±15.7 years and differed significantly between the CLE subtypes. In 347 (34.6%) of the 1002 patients, two or more CLE subtypes were diagnosed during the course of the disease and 453 (45.2%) presented with LE-nonspecific manifestations. Drug-induced CLE and SjögrenD́s Syndrome had the highest prevalence in SCLE patients (13.1% and 14.0%, respectively). Photosensitivity was significantly more frequent in patients with ACLE, SCLE, and ICLE compared with those with CCLE. The detection of antinuclear antibodies such as anti-Ro/SSA and anti-La/SSB antibodies revealed further significant differences between the CLE subtypes. In summary, the EUSCLE Core Set Questionnaire and its database facilitate the analysis of clinical and laboratory features in a high number of patients with CLE and will contribute to standardized assessment and monitoring of the disease in Europe.
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  • Kawakatsu, Taiji, et al. (author)
  • Epigenomic Diversity in a Global Collection of Arabidopsis thaliana Accessions
  • 2016
  • In: Cell. - : Elsevier. - 0092-8674 .- 1097-4172. ; 166:2, s. 492-505
  • Journal article (peer-reviewed)abstract
    • The epigenome orchestrates genome accessibility, functionality, and three-dimensional structure. Because epigenetic variation can impact transcription and thus phenotypes, it may contribute to adaptation. Here, we report 1,107 high-quality single-base resolution methylomes and 1,203 transcriptomes from the 1001 Genomes collection of Arabidopsis thaliana. Although the genetic basis of methylation variation is highly complex, geographic origin is a major predictor of genome-wide DNA methylation levels and of altered gene expression caused by epialleles. Comparison to cistrome and epicistrome datasets identifies associations between transcription factor binding sites, methylation, nucleotide variation, and co-expression modules. Physical maps for nine of the most diverse genomes reveal how transposons and other structural variants shape the epigenome, with dramatic effects on immunity genes. The 1001 Epigenomes Project provides a comprehensive resource for understanding how variation in DNA methylation contributes to molecular and non-molecular phenotypes in natural populations of the most studied model plant.
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8.
  • Alonso-Blanco, Carlos, et al. (author)
  • 1,135 Genomes Reveal the Global Pattern of Polymorphism in Arabidopsis thaliana
  • 2016
  • In: Cell. - : Elsevier. - 0092-8674 .- 1097-4172. ; 166:2, s. 481-491
  • Journal article (peer-reviewed)abstract
    • Arabidopsis thaliana serves as a model organism for the study of fundamental physiological, cellular, and molecular processes. It has also greatly advanced our understanding of intraspecific genome variation. We present a detailed map of variation in 1,135 high-quality re-sequenced natural inbred lines representing the native Eurasian and North African range and recently colonized North America. We identify relict populations that continue to inhabit ancestral habitats, primarily in the Iberian Peninsula. They have mixed with a lineage that has spread to northern latitudes from an unknown glacial refugium and is now found in a much broader spectrum of habitats. Insights into the history of the species and the fine-scale distribution of genetic diversity provide the basis for full exploitation of A. thaliana natural variation through integration of genomes and epigenomes with molecular and non-molecular phenotypes.
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  • Naghavi, N., et al. (author)
  • Buffer layers and transparent conducting oxides for chalcopyrite Cu(In,Ga)(S,Se)(2) based thin film photovoltaics : Present status and current developments
  • 2010
  • In: Progress in Photovoltaics. - : Wiley. - 1062-7995 .- 1099-159X. ; 18:6, s. 411-433
  • Journal article (peer-reviewed)abstract
    • The aim of the present contribution is to give a review on the recent work concerning Cd-free buffer and window layers in chalcopyrite solar cells using various deposition techniques as well as on their adaptation to chalcopyrite-type absorbers such as Cu(In,Ga)Se-2, CuInS2, or Cu(In,Ga)(S,Se)(2). The corresponding solar-cell performances, the expected technological problems, and current attempts for their commercialization will be discussed. The most important deposition techniques developed in this paper are chemical bath deposition, atomic layer deposition, ILGAR deposition, evaporation, and spray deposition. These deposition methods were employed essentially for buffers based on the following three materials: In2S3, ZnS, Zn1-xMgxO.
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15.
  • Kon, E., et al. (author)
  • A multilayer biomaterial for osteochondral regeneration shows superiority vs microfractures for the treatment of osteochondral lesions in a multicentre randomized trial at 2 years
  • 2018
  • In: Knee Surgery Sports Traumatology Arthroscopy. - : Springer Science and Business Media LLC. - 0942-2056 .- 1433-7347. ; 26:9, s. 2704-2715
  • Journal article (peer-reviewed)abstract
    • Purpose The increasing awareness on the role of subchondral bone in the etiopathology of articular surface lesions led to the development of osteochondral scaffolds. While safety and promising results have been suggested, there are no trials proving the real potential of the osteochondral regenerative approach. Aim was to assess the benefit provided by a nanostructured collagen-hydroxyapatite (coll-HA) multilayer scaffold for the treatment of chondral and osteochondral knee lesions. Methods In this multicentre randomized controlled clinical trial, 100 patients affected by symptomatic chondral and osteochondral lesions were treated and evaluated for up to 2 years (51 study group and 49 control group). A biomimetic coll-HA scaffold was studied, and bone marrow stimulation (BMS) was used as reference intervention. Primary efficacy measurement was IKDC subjective score at 2 years. Secondary efficacy measurements were: KOOS, IKDC Knee Examination Form, Tegner and VAS Pain scores evaluated at 6, 12 and 24 months. Tissue regeneration was evaluated with MRI MOCART scoring system at 6, 12 and 24 months. An external independent agency was involved to ensure data correctness and objectiveness. Results A statistically significant improvement of all clinical scores was obtained from basal evaluation to 2-year follow-up in both groups, although no overall statistically significant differences were detected between the two treatments. Conversely, the subgroup of patients affected by deep osteochondral lesions (i.e. Outerbridge grade IV and OCD) showed a statistically significant better IKDC subjective outcome (+12.4 points, p = 0.036) in the coll-HA group. Statistically significant better results were also found for another challenging group: sport active patients (+16.0, p = 0.027). Severe adverse events related to treatment were documented only in three patients in the coll-HA group and in one in the BMS group. The MOCART score showed no statistical difference between the two groups. Conclusions This study highlighted the safety and potential of a biomimetic implant. While no statistically significant differences were found compared to BMS for chondral lesions, this procedure can be considered a suitable option for the treatment of osteochondral lesions.
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16.
  • Martin, Natalia M., et al. (author)
  • Atomic Layer Grown Zinc-Tin Oxide as an Alternative Buffer Layer for Cu2ZnSnS4-Based Thin Film Solar Cells : Influence of Absorber Surface Treatment on Buffer Layer Growth
  • 2022
  • In: ACS Applied Energy Materials. - : American Chemical Society (ACS). - 2574-0962. ; 5:11, s. 13971-13980
  • Journal article (peer-reviewed)abstract
    • Zn1-xSnxOy (ZTO) deposited by atomic layer deposition has shown promising results as a buffer layer material for kesterite Cu2ZnSnS4 (CZTS) thin film solar cells. Increased performance was observed when a ZTO buffer layer was used as compared to the traditional CdS buffer, and the performance was further increased after an air annealing treatment of the absorber. In this work, we study how CZTS absorber surface treatments may influence the chemical and electronic properties at the ZTO/CZTS interface and the reactions that may occur at the absorber surface prior to atomic layer deposition of the buffer layer. For this, we have used a combination of microscopy and synchrotron-based spectroscopies with variable information depths (X-ray photoelectron spectroscopy, high-energy X-ray photoelectron spectroscopy, and X-ray absorption spectroscopy), allowing for an in-depth analysis of the CZTS near-surface regions and bulk material properties. No significant ZTO buffer thickness variation is observed for the differently treated CZTS absorbers, and no differences are observed when comparing the bulk properties of the samples. However, the formation of SnOx and compositional changes observed toward the CZTS surface upon an air annealing treatment may be linked to the modified buffer layer growth. Further, the results indicate that the initial N2 annealing step integrated in the buffer layer growth by atomic layer deposition, which removes Na-COx species from the CZTS surface, may be useful for the ZTO/CZTS device performance.
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17.
  • Rey, G., et al. (author)
  • Absorption Coefficient of a Semiconductor Thin Film from Photoluminescence
  • 2018
  • In: Physical Review Applied. - : AMER PHYSICAL SOC. - 2331-7019. ; 9:6
  • Journal article (peer-reviewed)abstract
    • The photoluminescence (PL) of semiconductors can be used to determine their absorption coefficient (a) using Planck's generalized law. The standard method, suitable only for self-supported thick samples, like wafers, is extended to multilayer thin films by means of the transfer-matrix method to include the effect of the substrate and optional front layers. a values measured on various thin-film solar-cell absorbers by both PL and photothermal deflection spectroscopy (PDS) show good agreement. PL measurements are extremely sensitive to the semiconductor absorption and allow us to advantageously circumvent parasitic absorption from the substrate; thus, a can be accurately determined down to very low values, allowing us to investigate deep band tails with a higher dynamic range than in any other method, including spectrophotometry and PDS.
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18.
  • Rosenhahn, Erik, et al. (author)
  • Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
  • 2022
  • In: American Journal of Human Genetics. - : Cell Press. - 0002-9297 .- 1537-6605. ; 109:8, s. 1421-1435
  • Journal article (peer-reviewed)abstract
    • PPFIBP1 encodes for the liprin-β1 protein, which has been shown to play a role in neuronal outgrowth and synapse formation in Drosophila melanogaster. By exome and genome sequencing, we detected nine ultra-rare homozygous loss-of-function variants in 16 individuals from 12 unrelated families. The individuals presented with moderate to profound developmental delay, often refractory early-onset epilepsy, and progressive microcephaly. Further common clinical findings included muscular hyper- and hypotonia, spasticity, failure to thrive and short stature, feeding difficulties, impaired vision, and congenital heart defects. Neuroimaging revealed abnormalities of brain morphology with leukoencephalopathy, ventriculomegaly, cortical abnormalities, and intracranial periventricular calcifications as major features. In a fetus with intracranial calcifications, we identified a rare homozygous missense variant that by structural analysis was predicted to disturb the topology of the SAM domain region that is essential for protein-protein interaction. For further insight into the effects of PPFIBP1 loss of function, we performed automated behavioral phenotyping of a Caenorhabditis elegans PPFIBP1/hlb-1 knockout model, which revealed defects in spontaneous and light-induced behavior and confirmed resistance to the acetylcholinesterase inhibitor aldicarb, suggesting a defect in the neuronal presynaptic zone. In conclusion, we establish bi-allelic loss-of-function variants in PPFIBP1 as a cause of an autosomal recessive severe neurodevelopmental disorder with early-onset epilepsy, microcephaly, and periventricular calcifications. 
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19.
  • Sawa, Hezekiah B., et al. (author)
  • Enhanced performance of Cu2ZnSnS4 based bifacial solar cells with FTO and W/FTO back contacts through absorber air annealing and Na incorporation
  • 2024
  • In: Solar Energy Materials and Solar Cells. - : Elsevier. - 0927-0248 .- 1879-3398. ; 264
  • Journal article (peer-reviewed)abstract
    • This study reports on the influence of air annealing and Na incorporation into the absorber on the performance of Cu2ZnSnS4 (CZTS) bifacial solar cells with FTO and W/FTO back contacts. Na was incorporated by depositing similar to 12 nm thick NaF on the CZTS precursors prior to the sulfurization process via thermal evaporation. After sulfurization, some of the samples were annealed in air at 300 degrees C for 90 s and subsequently at 200 degrees C for 600 s. Transmission electron microscopy confirmed sulfurization of the W interlayer to form WS2 which improves the FTO ohmicity. Na incorporation improved grain size of the absorber as revealed by scanning electron microscopy. Non-annealed samples had the unwanted SnS2 phase while the air annealed samples, particularly those with both W interlayer and Na incorporation, were exempt from SnS2 phase, as was confirmed through grazing incident X-ray diffraction and Raman spectroscopy. These results suggest that absorber air annealing and Na incorporation enhance absorber crystal growth which is advantageous in reducing bulk carrier recombination. As a result, the efficiency was significantly improved from 3.0% for solar cells fabricated directly on FTO to 5.2% for those whose absorbers were air annealed, incorporated with Na and made on W/FTO. The latter also exhibits the highest external quantum efficiency response and calculated short circuit current density for both sides illumination. This indicates that the air annealing, Na incorporation and W interlayer are enhancing the performance of bifacial CZTS solar cells with FTO back contact for both back side and front side illumination.
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20.
  • Sawa, Hezekiah B., et al. (author)
  • Toward improving the performance of Cu2ZnSnS4-based solar cells with Zr, W or sulfurized layers at the SnO2:F/Cu2ZnSnS4 rear interface
  • 2024
  • In: Thin Solid Films. - : Elsevier. - 0040-6090 .- 1879-2731. ; 793
  • Journal article (peer-reviewed)abstract
    • The photovoltaic performance of Cu2ZnSnS4 (CZTS)-based thin film solar cells with transparent back contacts is mainly constrained by the ohmic loss due to degradation of the back contacts at high temperatures required for the growth of the CZTS absorbers. This work has attempted to use ultrathin Zr and W interlayers at the SnO2:F (FTO)/CZTS interface with the purpose of improving the ohmic properties of FTO and hence the performance of solar cells. 20 nm thick Zr and W layers were coated on FTO using direct current magnetron sputtering, followed by heating at 550 °C in a sulfur atmosphere for some of the samples. Inclusion of Zr and W interlayers compromised the transmittance of the FTO back contact, however heating of the samples in a sulfur atmosphere improved the transmittance to values comparable to or better than those of un-heated FTO. Furthermore, heated W/FTO showed a significant improvement in electrical conductivity as observed from Hall effect measurements. To make complete solar cells, CZTS absorber, buffer (CdS) and window (i-ZnO/ZnO:Al) layers were sequentially deposited on the un-heated FTO, Zr/FTO, W/FTO and Mo back contacts. Glow discharge optical emmision spectroscopy confirmed that Zr and W did not diffuse into the absorber and also prevented Na diffusion into the absorber. From the scanning electron microscopy cross sectional analysis, an impovement in the absober grain size and a clear junction between the absorber and FTO with W interlayer were observed. Grazing incident X-ray diffractometry confirmed the polycrystalline nature of the CZTS thin films and indicated the presence of other phases, particularly SnS2. On the resulting solar cell parameters, the inclusion of a W interlayer reduced the series resistance from 4.5 Ωcm to 3.7 Ωcm2. An improvement in short circuit current density (JSC) is also observed, enhancing the efficiency of the solar cells with CZTS/W/FTO to 3.1 % compared to that with CZTS/Mo at 2.7 % and CZTS/FTO at 3.0 %. W was found to improve the external quantum efficiency response and JSC of the solar cells for both backside and frontside light illumination. On the other hand, inclusion of a Zr interlayer (Zr/FTO) only slighlty improved the open circuit voltage, but compromised the JSC compared to FTO and W/FTO back contacts. Thus, the findings of this study demonstrate the prospect for improving the performance of the CZTS-based thin film solar cells through the inclusion of ultrathin Zr and W interlayers between the FTO back contact and CZTS absorber.
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21.
  • Van Puyvelde, L., et al. (author)
  • Photoluminescence investigation of Cu2ZnSnS4 thin film solar cells
  • 2015
  • In: Thin Solid Films. - : Elsevier BV. - 0040-6090 .- 1879-2731. ; 582, s. 146-150
  • Journal article (peer-reviewed)abstract
    • Cu2ZnSnS4 (CZTS) is a promising absorber for thin film solar cells which is non-toxic and consists of only abundant elements. In order to achieve higher solar cell efficiencies for this material, a better understanding about its defect structure is necessary. In this paper photoluminescence (PL) from sputtered CZTS thin film solar cells which differ in buffer layer thickness was studied. In the PL spectra three broad peaks could be distinguished between 0.9 and 1.3 eV. The PL measurements as a function of temperature and excitation power density revealed the presence of potential fluctuations. The separations between the band edge of the photoluminescence excitation signal and the PL emission peaks are large, which indicates that PL involves trapping of carriers by deep-level defects.
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