| 1. |
- Tabiri, S, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 2. |
- Bravo, L, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 3. |
- de Jong, S, et al.
(författare)
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Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder
- 2018
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Ingår i: Communications biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 1, s. 163-
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Tidskriftsartikel (refereegranskat)abstract
- Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n ~ 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generations. This may explain the observation of anticipation in mood disorders, whereby onset is earlier and the severity increases over the generations of a family. Joint analyses of rare and common variation may be a powerful way to understand the familial genetics of psychiatric disorders.
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| 4. |
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| 5. |
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| 6. |
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| 7. |
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| 8. |
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| 9. |
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| 10. |
- Alcorn, J, et al.
(författare)
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Basic instrumentation for Hall A at Jefferson Lab
- 2004
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Ingår i: Nuclear Instruments & Methods in Physics Research. Section A: Accelerators, Spectrometers, Detectors, and Associated Equipment. - : Elsevier BV. - 0167-5087 .- 0168-9002. ; 522:3, s. 294-346
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Tidskriftsartikel (refereegranskat)abstract
- The instrumentation in Hall A at the Thomas Jefferson National Accelerator Facility was designed to study electro-and photo-induced reactions at very high luminosity and good momentum and angular resolution for at least one of the reaction products. The central components of Hall A are two identical high resolution spectrometers, which allow the vertical drift chambers in the focal plane to provide a momentum resolution of better than 2 x 10(-4). A variety of Cherenkov counters, scintillators and lead-glass calorimeters provide excellent particle identification. The facility has been operated successfully at a luminosity well in excess of 10(38) CM-2 s(-1). The research program is aimed at a variety of subjects, including nucleon structure functions, nucleon form factors and properties of the nuclear medium. (C) 2003 Elsevier B.V. All rights reserved.
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| 11. |
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| 12. |
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| 13. |
- Kelly, J. J., et al.
(författare)
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Recoil polarization measurements for neutral pion electroproduction at Q(2)=1(GeV/c)(2) near the Delta resonance
- 2007
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 75:2
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Tidskriftsartikel (refereegranskat)abstract
- We measured angular distributions of differential cross section, beam analyzing power, and recoil polarization for neutral pion electroproduction at Q(2)=1.0 (GeV/c)(2) in 10 bins of 1.17 <= W <= 1.35 GeV across the Delta resonance. A total of 16 independent response functions were extracted, of which 12 were observed for the first time. Comparisons with recent model calculations show that response functions governed by real parts of interference products are determined relatively well near the physical mass, W=M-Delta approximate to 1.232 GeV, but the variation among models is large for response functions governed by imaginary parts, and for both types of response functions, the variation increases rapidly with W > M-Delta. We performed a multipole analysis that adjusts suitable subsets of center dot(pi)<= 2 amplitudes with higher partial waves constrained by baseline models. This analysis provides both real and imaginary parts. The fitted multipole amplitudes are nearly model independent-there is very little sensitivity to the choice of baseline model or truncation scheme. By contrast, truncation errors in the traditional Legendre analysis of N ->Delta quadrupole ratios are not negligible. Parabolic fits to the W dependence around M-Delta for the multiple analysis gives values for Re(S1+/M1+)=(-6.61 +/- 0.18)% and Re(E1+/M1+)=(-2.87 +/- 0.19)% for the p pi(0) channel at W=1.232 GeV and Q(2)=1.0 (GeV/c)(2) that are distinctly larger than those from the Legendre analysis of the same data. Similarly, the multipole analysis gives Re(S0+/M1+)=(+7.1 +/- 0.8)% at W=1.232 GeV, consistent with recent models, while the traditional Legendre analysis gives the opposite sign because its truncation errors are quite severe.
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| 14. |
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| 15. |
- Abé, Christoph, et al.
(författare)
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Longitudinal Structural Brain Changes in Bipolar Disorder: A Multicenter Neuroimaging Study of 1232 Individuals by the ENIGMA Bipolar Disorder Working Group.
- 2022
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Ingår i: Biological psychiatry. - : Elsevier BV. - 1873-2402 .- 0006-3223. ; 91:6, s. 582-592
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Tidskriftsartikel (refereegranskat)abstract
- Bipolar disorder (BD) is associated with cortical and subcortical structural brain abnormalities. It is unclear whether such alterations progressively change over time, and how this is related to the number of mood episodes. To address this question, we analyzed a large and diverse international sample with longitudinal magnetic resonance imaging (MRI) and clinical data to examine structural brain changes over time in BD.Longitudinal structural MRI and clinical data from the ENIGMA (Enhancing Neuro Imaging Genetics through Meta Analysis) BD Working Group, including 307 patients with BD and 925 healthy control subjects, were collected from 14 sites worldwide. Male and female participants, aged 40 ± 17 years, underwent MRI at 2 time points. Cortical thickness, surface area, and subcortical volumes were estimated using FreeSurfer. Annualized change rates for each imaging phenotype were compared between patients with BD and healthy control subjects. Within patients, we related brain change rates to the number of mood episodes between time points and tested for effects of demographic and clinical variables.Compared with healthy control subjects, patients with BD showed faster enlargement of ventricular volumes and slower thinning of the fusiform and parahippocampal cortex (0.18
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| 16. |
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| 17. |
- Lammer, H., et al.
(författare)
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Geophysical and Atmospheric Evolution of Habitable Planets
- 2010
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Ingår i: Astrobiology. - : Mary Ann Liebert Inc. - 1531-1074 .- 1557-8070. ; 10:1, s. 45-68
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Tidskriftsartikel (refereegranskat)abstract
- The evolution of Earth-like habitable planets is a complex process that depends on the geodynamical and geophysical environments. In particular, it is necessary that plate tectonics remain active over billions of years. These geophysically active environments are strongly coupled to a planet's host star parameters, such as mass, luminosity and activity, orbit location of the habitable zone, and the planet's initial water inventory. Depending on the host star's radiation and particle flux evolution, the composition in the thermosphere, and the availability of an active magnetic dynamo, the atmospheres of Earth-like planets within their habitable zones are differently affected due to thermal and nonthermal escape processes. For some planets, strong atmospheric escape could even effect the stability of the atmosphere.
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| 18. |
- Langlais, B., et al.
(författare)
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Mars environment and magnetic orbiter model payload
- 2009
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Ingår i: Experimental astronomy. - : Springer Science and Business Media LLC. - 0922-6435 .- 1572-9508. ; 23:3, s. 761-783
-
Tidskriftsartikel (refereegranskat)abstract
- Mars Environment and Magnetic Orbiter was proposed as an answer to the Cosmic Vision Call of Opportunity as a M-class mission. The MEMO mission is designed to study the strong interconnections between the planetary interior, atmosphere and solar conditions essential to understand planetary evolution, the appearance of life and its sustainability. MEMO provides a high-resolution, complete, mapping of the magnetic field (below an altitude of about 250 km), with an yet unachieved full global coverage. This is combined with an in situ characterization of the high atmosphere and remote sensing of the middle and lower atmospheres, with an unmatched accuracy. These measurements are completed by an improved detection of the gravity field signatures associated with carbon dioxide cycle and to the tidal deformation. In addition the solar wind, solar EUV/UV and energetic particle fluxes are simultaneously and continuously monitored. The challenging scientific objectives of the MEMO mission proposal are fulfilled with the appropriate scientific instruments and orbit strategy. MEMO is composed of a main platform, placed on a elliptical (130 x 1,000 km), non polar (77A degrees inclination) orbit, and of an independent, higher apoapsis (10,000 km) and low periapsis (300 km) micro-satellite. These orbital parameters are designed so that the scientific return of MEMO is maximized, in terms of measurement altitude, local time, season and geographical coverage. MEMO carry several suites of instruments, made of an 'exospheric-upper atmosphere' package, a 'magnetic field' package, and a 'low-middle atmosphere' package. Nominal mission duration is one Martian year.
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| 19. |
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| 20. |
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| 21. |
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| 22. |
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| 23. |
- Millischer, V., et al.
(författare)
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Improving lithium dose prediction using population pharmacokinetics and pharmacogenomics: a cohort genome-wide association study in Sweden
- 2022
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Ingår i: Lancet Psychiatry. - 2215-0374. ; 9:6, s. 447-457
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Tidskriftsartikel (refereegranskat)abstract
- Background Lithium is the most effective treatment for bipolar disorder, resulting in strong suicide prevention effects. The therapeutic range of lithium, however, is narrow and treatment initiation requires individual titration to address inter-individual variability. We aimed to improve lithium dose prediction using clinical and genomic data. Methods We performed a population pharmacokinetic study followed by a genome-wide association study (GWAS), including two clinical Swedish cohorts. Participants in cohort 1 were from specialised outpatient clinics at Huddinge Hospital, in Stockholm, Sweden, and participants in cohort 2 were identified using the Swedish National Quality Registry for Bipolar disorder (BipolaR). Patients who received a lithium dose corresponding to at least one tablet of lithium sulphate (6 mmol) per day and had clinically relevant plasma concentrations of lithium were included in the study. Data on age, sex, bodyweight, height, creatinine concentration, estimated glomerular filtration rate (eGFR), lithium preparation, number of tablets of lithium per day, serum lithium concentration, and medications affecting kidney function (C09 antihypertensives, C03 [except C03D] sodium-retaining diuretics, and non-steroidal anti-inflammatory drugs) were obtained retrospectively for several timepoints when possible from electronic health records, BipolaR, and the Swedish prescription registry. The median time between timepoints was 1.07 years for cohort 1 and 1.09 years for cohort 2. The primary outcome of interest was the natural logarithm of total body clearance for lithium (CLLi) associated with the clinical variables. The residual effects after accounting for age and sex, representing the individual-level effects (CLLi,age/sex), were used as the dependent variable in a GWAS. Findings 2357 patients who were administered lithium (1423 women [60.4%] and 934 men [39.6%]; mean age 53.6 years [range 17-89], mainly of European descent) were included and 5627 data points were obtained. Age (variance explained [R-2]: R-cohort1(2)=0.41 and R-cohort2(2)=0.31; both p<0.0001), sex (R-cohort1(2)=0.0063 [p=0.045] and R-cohort2(2)=0.026 [p<0.0001]), eGFR (R-cohort1(2)=0.38 and R-cohort2(2)=0.0; both p<0.0001), comedication with diuretics (R-cohort1(2)=0.0058 [p=0.014] and R-cohort2(2)=0.0026 [p<0.0001]), and agents acting on the renin-aldosterone-angiotensin system (R-cohort1(2)=0.028 and R-cohort2(2)=0.015; both p<0.0001) were clinical predictors of CLLi. Notably, an association between CLLi and serum lithium was observed, with a lower CLLi being associated with higher serum lithium (R-cohort1(2)=0.13 and R-cohort2(2)=0.15; both p<0.0001). In a GWAS of CLLi,age/sex, one locus was associated with a change in CLLi (rs583503; beta=-0.053 [95% CI -0.071 to -0.034]; p<0.00000005). We also found enrichment of the associations with genes expressed in the medulla (p=0.0014, corrected FDR=0.04) and cortex of the kidney (p=0.0015, corrected FDR=0.04), as well as associations with polygenic risk scores for eGFR (p value threshold: 0.05, p=0.01), body-mass index (p value threshold: 0.05, p=0.00025), and blood urea nitrogen (p value threshold: 0.001, p=0.00043). The model based on six clinical predictors explained 61.4% of the variance in CLLi in cohort 1 and 49.8% in cohort 2. Adding genetic markers did not lead to major improvement of the models: within the subsample of genotyped individuals, the variance explained only increased from 59.32% to 59.36% in cohort 1 and from 49.21% to 50.03% in cohort 2 when including rs583503 and the four first principal components. Interpretation Our model predictors could be used clinically to better guide lithium dosage, shortening the time to reach therapeutic concentrations, thus improving care. Identification of the first genomic locus and PRS to be associated with CLLi introduces the opportunity of individualised medicine in lithium treatment. Copyright (C) 2022 Elsevier Ltd. All rights reserved.
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| 24. |
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| 25. |
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| 26. |
- Friedman, James S., et al.
(författare)
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Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa
- 2009
-
Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297. ; 84:6, s. 792-800
-
Tidskriftsartikel (refereegranskat)abstract
- Retinitis pigmentosa (RP) refers to a genetically heterogeneous group of progressive neurodegenerative diseases that result in dysfunction and/or death of rod and cone photoreceptors in the retina. So far, 18 genes have been identified for autosomal-dominant (ad) RP. Here, we describe an adRP locus (RP42) at chromosome 7p15 through linkage analysis in a six-generation Scandinavian family and identify a disease-causing mutation, c.449G -> A (p.S150N), in exon 6 of the KLHL7 gene. Mutation screening of KLHL7 in 502 retinopathy probands has revealed three different missense mutations in six independent families. KLHL7 is widely expressed, including expression in rod photoreceptors, and encodes a 75 kDa protein of the BTB-Kelch Subfamily within the BTB superfamily. BTB-Kelch proteins have been implicated in ubiquitination through Cullin E3 ligases. Notably, all three putative disease-causing KLHL7 mutations are within a conserved BACK domain; homology modeling suggests that mutant amino acid side chains can potentially fill the cleft between two helices, thereby affecting the ubiquitination complexes. Mutations in an identical region of another BTB-Kelch protein, gigaxonin, have previously been associated with giant axonal neuropathy. Our studies suggest an additional role of the ubiquitin-proteasome protein-degradation pathway in maintaining neuronal health and in disease.
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| 27. |
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| 28. |
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| 29. |
- Widemann, Thomas, et al.
(författare)
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Venus Evolution Through Time : Key Science Questions, Selected Mission Concepts and Future Investigations
- 2023
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Ingår i: Space Science Reviews. - : SPRINGER. - 0038-6308 .- 1572-9672. ; 219:7
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Forskningsöversikt (refereegranskat)abstract
- In this work we discuss various selected mission concepts addressing Venus evolution through time. More specifically, we address investigations and payload instrument concepts supporting scientific goals and open questions presented in the companion articles of this volume. Also included are their related investigations (observations & modeling) and discussion of which measurements and future data products are needed to better constrain Venus' atmosphere, climate, surface, interior and habitability evolution through time. A new fleet of Venus missions has been selected, and new mission concepts will continue to be considered for future selections. Missions under development include radar-equipped ESA-led EnVision M5 orbiter mission (European Space Agency 2021), NASA-JPL's VERITAS orbiter mission (Smrekar et al. 2022a), NASA-GSFC's DAVINCI entry probe/flyby mission (Garvin et al. 2022a). The data acquired with the VERITAS, DAVINCI, and EnVision from the end of this decade will fundamentally improve our understanding of the planet's long term history, current activity and evolutionary path. We further describe future mission concepts and measurements beyond the current framework of selected missions, as well as the synergies between these mission concepts, ground-based and space-based observatories and facilities, laboratory measurements, and future algorithmic or modeling activities that pave the way for the development of a Venus program that extends into the 2040s (Wilson et al. 2022).
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| 30. |
- Andréasson, Sten, et al.
(författare)
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Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes
- 2003
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Ingår i: Ophthalmic Genetics. - : Swets & Zeitlinger Publishers. - 1381-6810 .- 1744-5094. ; 24:4, s. 215-223
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To describe new disease-causing RP2 and RPGR-ORF15 mutations and their corresponding clinical phenotypes in Swedish families with X-linked retinitis pigmentosa (XLRP) and to establish genotype-phenotype correlations by studying the clinical spectrum of disease in families with a known molecular defect. Methods: Seventeen unrelated families with RP and an apparent X-linked pattern of disease inheritance were identified from the Swedish RP registry and screened for mutations in the RP2 and RPGR (for the RP3 disease) genes. These families had been previously screened for the RPGR exons 1-19, and disease-causing mutations were identified in four of them. In the remaining 13 families, we sequenced the RP2 gene and the newly discovered RPGR-ORF exon. Detailed clinical evaluations were then obtained from individuals in the three families with identified mutations. Results: Mutations in RP2 and RPGR-ORF15 were identified in three of the 13 families. Clinical evaluations of affected males and carrier females demonstrated varying degrees of retinal dysfunction and visual handicap, with early onset and severe disease in the families with mutations in the ORF15 exon of the RPGR gene. Conclusions: A total of seven mutations in the RP2 and RPGR genes have been discovered so far in Swedish XLRP families. All affected individuals express a severe form of retinal degeneration with visual handicap early in life, although the degree of retinal dysfunction varies both in hemizygous male patients and in heterozygous carrier females. Retinal disease phenotypes in patients with mutations in the RPGR-ORF15 were more severe than in patients with mutations in RP2 or other regions of the RPGR.
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| 31. |
- Ashwin, M.J., et al.
(författare)
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The bonding of CAs acceptors in InxGa1-xAs grown by chemical beam epitaxy using carbon tetrabromide as the source of carbon
- 1996
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Ingår i: Journal of Applied Physics. - : AIP Publishing. - 0021-8979 .- 1089-7550. ; 80:12, s. 6754-6760
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Tidskriftsartikel (refereegranskat)abstract
- InxGa1-xAs layers (0≤x≤0.37) doped with carbon (>1020 cm-3) were grown on semi-insulating GaAs substrates by chemical beam epitaxy using carbon tetrabromide (CBr4) as the dopant source. Hall measurements imply that all of the carbon was present as CAs for values x up to 0.15. The C acceptors were passivated by exposing samples to a radio frequency hydrogen plasma for periods of up to 6 h. The nearest-neighbor bonding configurations of CAs were investigated by studying the nondegenerate antisymmetric hydrogen stretch mode (A-1 symmetry) and the symmetric XH mode (A+1 symmetry) of the H-CAs pairs using IR absorption and Raman scattering, respectively. Observed modes at 2635 and 450 cm-1 had been assigned to passivated Ga4CAs clusters. New modes at 2550 and 430 cm-1 increased in strength with increasing values of x and are assigned to passivated InGa3CAs clusters. These results were compared with ab initio local density functional theory. Modes due to AlInGaCAs clusters were detected in samples containing grown in Al and In. These results demonstrate that for InGaAs, CBr4 is an efficient C doping source since both In-CAs bonds as well as Ga-CAs bonds are formed, whereas there is no evidence for the formation of In-CAs bonds in samples doped with C derived from trimethylgallium or solid sources
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| 32. |
- Birk, Marlène S., et al.
(författare)
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Salmonella infection impacts host proteome thermal stability
- 2024
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Ingår i: European Journal of Cell Biology. - : Elsevier. - 0171-9335 .- 1618-1298. ; 103:4
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Tidskriftsartikel (refereegranskat)abstract
- Intracellular bacterial pathogens hijack the protein machinery of infected host cells to evade their defenses and cultivate a favorable intracellular niche. The intracellular pathogen Salmonella enterica subsp. Typhimurium (STm) achieves this by injecting a cocktail of effector proteins into host cells that modify the activity of target host proteins. Yet, proteome-wide approaches to systematically map changes in host protein function during infection have remained challenging. Here we adapted a functional proteomics approach - Thermal-Proteome Profiling (TPP) - to systematically assess proteome-wide changes in host protein abundance and thermal stability throughout an STm infection cycle. By comparing macrophages treated with live or heat-killed STm, we observed that most host protein abundance changes occur independently of STm viability. In contrast, a large portion of host protein thermal stability changes were specific to infection with live STm. This included pronounced thermal stability changes in proteins linked to mitochondrial function (Acod1/Irg1, Cox6c, Samm50, Vdac1, and mitochondrial respiratory chain complex proteins), as well as the interferon-inducible protein with tetratricopeptide repeats, Ifit1. Integration of our TPP data with a publicly available STm-host protein-protein interaction database led us to discover that the secreted STm effector kinase, SteC, thermally destabilizes and phosphorylates the ribosomal preservation factor Serbp1. In summary, this work emphasizes the utility of measuring protein thermal stability during infection to accelerate the discovery of novel molecular interactions at the host-pathogen interface.
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| 33. |
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| 34. |
- Breuer, L., et al.
(författare)
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Assessing the impact of land use change on hydrology by ensemble modeling (LUCHEM). I : Model intercomparison with current land use
- 2009
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Ingår i: Advances in Water Resources. - : Elsevier BV. - 0309-1708 .- 1872-9657. ; 32:2, s. 129-146
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Tidskriftsartikel (refereegranskat)abstract
- This paper introduces the project on 'Assessing the impact of land use change on hydrology by ensemble modeling (LUCHEM)' that aims at investigating the envelope of predictions on changes in hydrological fluxes due to land use change. As part of a series of four papers, this paper outlines the motivation and setup of LUCHEM, and presents a model intercomparison for the present-day simulation results. Such an intercomparison provides a valuable basis to investigate the effects of different model structures on model predictions and paves the ground for the analysis of the performance of multi-model ensembles and the reliability of the scenario predictions in companion papers. in this study, we applied a set of 10 lumped, semi-lumped and fully distributed hydrological models that have been previously used in land use change studies to the low mountainous Dill catchment. Germany. Substantial differences in model performance were observed with Nash-Sutcliffe efficiencies ranging from 0.53 to 0.92. Differences in model performance were attributed to (1) model input data, (2) model calibration and (3) the physical basis of the models. The models were applied with two sets of input data: an original and a homogenized data set. This homogenization of precipitation, temperature and leaf area index was performed to reduce the variation between the models. Homogenization improved the comparability of model simulations and resulted in a reduced average bias, although some variation in model data input remained. The effect of the physical differences between models on the long-term water balance was mainly attributed to differences in how models represent evapotranspiration. Semi-lumped and lumped conceptual models slightly outperformed the fully distributed and physically based models. This was attributed to the automatic model calibration typically used for this type of models. Overall, however, we conclude that there was no superior model if several measures of model performance are considered and that all models are suitable to participate in further multi-model ensemble set-ups and land use change scenario investigations.
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| 35. |
- Breuer, O, et al.
(författare)
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Intravenous Infusion of High Dose Selenite in End-Stage Cancer Patients: Analysis of Systemic Exposure to Selenite and Seleno-Metabolites
- 2023
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Ingår i: Biomedicines. - : MDPI AG. - 2227-9059. ; 11:2
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Tidskriftsartikel (refereegranskat)abstract
- Cancer is one of the main causes of human death globally and novel chemotherapeutics are desperately required. As a simple selenium oxide, selenite is a very promising chemotherapeutic because of pronounced its dose-dependent tumor-specific cytotoxicity. We previously published a first-in-man systematic phase I clinical trial in patients with cancer (from IV to end-stage) (the SECAR trial) showing that selenite is safe and tolerable with an unexpectable high maximum tolerated dose (MTD) and short half-life. In the present study, we analyzed the selenium species in plasma samples, from the patients participating in the SECAR trial and from various time points and dose cohorts using LC-ICP-MS. In conclusion, selenite, selenosugars, and 1–2 unidentified peaks that did not correspond to any standard, herein denoted ui-selenium, were detected in the plasma. However, trimethylated selenium (trimethylselenonoium) was not detected. The unidentified ui-selenium was eluting close to the selenium-containing amino acids (selenomethionine and selenocysteine) but was not part of a protein fraction. Our data demonstrate that the major metabolite detected was selenosugar. Furthermore, the identification of selenite even long after the administration is remarkable and unexpected. The kinetic analysis did not support that dosing per the body surface area would reduce interindividual variability of the systemic exposure in terms of trough concentrations.
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| 36. |
- Budde, M., et al.
(författare)
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Identification of the hydrogen-saturated self-interstitials in silicon and germanium
- 1998
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Ingår i: Physical Review B. Condensed Matter and Materials Physics. - 1098-0121 .- 1550-235X. ; 57:18, s. 4397-4412
-
Tidskriftsartikel (refereegranskat)abstract
- Silicon and germanium single crystals are implanted with protons. The infrared-absorption spectra of the samples contain sharp absorption lines due to the excitation of hydrogen-related local vibrational modes. The lines at 743.1, 748.0, 1986.5, and 1989.4 cm-1 in silicon and at 700.3, 705.5, 1881.8, and 1883.5 cm-1 in germanium originate from the same defect in the two materials. Measurements on samples coimplanted with protons and deuterons show that the defect contains two equivalent hydrogen atoms. Uniaxial stress measurements are carried out and a detailed analysis of the results is presented. It is shown that the defect has monoclinic-II symmetry, and the orientations of the Si-H and Ge-H bonds of the defect are determined. Ab initio local-density-functional theory is used to calculate the structure and local vibrational modes of the self-interstitial binding one and two hydrogen atoms in silicon and germanium together with the structure of the self-interstitial itself. The observed properties of the defect are in excellent agreement with those calculated for the self-interstitial binding two hydrogen atoms.
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| 37. |
- Budde, M., et al.
(författare)
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The hydrogen-saturated self-interstitial in silicon and germanium
- 1997
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Ingår i: Defects in semiconductors. - : Trans Tech Publications Inc.. ; , s. 35-40
-
Konferensbidrag (refereegranskat)abstract
- Infrared absorption spectroscopy is used to study H-related point defects in H+-implanted Si (Si:H) and Ge (Ge:H). The absorption lines at 743.1, 748.0, 1986.5 and 1989.4 cm-1 in Si:H and at 700.3, 705.5, 1881.8 and 1883.5 cm-1 in Ge:H are shown to originate from the same defect containing two equivalent H atoms. Uniaxial stress experiments show that the defects have monoclinic-II symmetry, and the orientations of the two Si-H or Ge-H bonds are determined. The structure and the local vibrational modes of the self-interstitial binding two H atoms (IH2) are calculated with LDF cluster theory. The symmetry, bond-orientations and isotopic frequency-shifts calculated for IH2 are in excellent agreement with those observed for the 743.1-, 748.0-, 1986.5- and 1989.4-cm-1 modes in Si:H and for the 700.3-, 705.5-, 1881.8- and 1883.5-cm-1 modes in Ge:H.
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| 38. |
- Coelho Leite Fava, Thales, et al.
(författare)
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Influence of free-stream turbulence on the boundary layer stability of a wind turbine airfoil and near wake
- 2023
-
Ingår i: Journal of Physics, Conference Series. - : IOP Publishing. - 1742-6588 .- 1742-6596. ; 2505:1, s. 012002-012002
-
Tidskriftsartikel (refereegranskat)abstract
- Free-stream turbulence (FST) alters the boundary layer of wind turbine blades, changing the hydrodynamic stability and near wake. Large-eddy simulations (LES) of a blade section with a laminar separation bubble for several turbulence intensities (TI) and a Reynolds number of 100,000 are performed. The effects of boundary-layer streaks generated by FST on Tollmien-Schlichting (TS) and Kelvin-Helmholtz (KH) instabilities are analyzed with a model based on the parabolized stability equations (PSE). Two competing effects on flow stability are identified. The spanwise-averaged mean-flow distortion stabilizes primary TS/KH modes for increasing TI. However, this contribution seems dominant only for TI ≥ 8.6%. For lower TI, the spanwise-oscillating distortion caused by streaks destabilizes the flow, and the growth rates of secondary modal instabilities increase with the streak amplitude. The destabilization occurs mainly at spanwise locations with negative streaks since the inflection point shifts away from the wall, enhancing inviscid instabilities. Inflection points in the spanwise direction formed by the streaks also contribute to the destabilization. The modal structures from PSE and LES agree. Finally, the trailing-edge near-wake coherent structures are more energetic for TI ≥ 8.6% due to the partial stabilization of modal instabilities, delaying the turbulent breakdown.
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| 39. |
- Coelho Leite Fava, Thales, et al.
(författare)
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Numerical investigation of transition on a wind turbine blade under free-stream turbulence at ??? = 1,000,000
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- Laminar-turbulent transition on a wind turbine blade section at ??? = 1,000,000 under anisotropic inflow turbulence is studied with wall-resolved large-eddy simulations and linear stability theory. The turbulence intensities (??) are 0, 0.6, 1.2, 2.4, 4.5 and 7%. The laminar separation bubble (LSB) for ?? = 0% develops two spanwise lobes upon reattachment due to the strong amplification of disturbances generated in the upstream attached boundary layer. Transition occurs via the breakdown of Kelvin-Helmholtz vortices in this case. Considering even modest turbulence levels (?? = 0.6%) leads to the suppression of the LSB due to the strong streak growth. Inner modes, which in the limit of zero FST tends to Tollmien-Schlichting (TS) waves, are present for ?? ≤ 2.4%, where Mack’s correlation agrees well with the simulations. Furthermore, linear receptivity occurs in this range of ??, with the initial streak growth well predicted by optimal perturbation analysis. The breakdown of streaks arises predominantly through an inner varicose instability for ?? ≤ 2.4%. For ?? ≥ 4.5%, non-linear receptivity is found, and narrower streaks dominate the flow. These streaks are not the most energetic, and SPOD fails to identify them. The streaks break down via an outer varicose instability in this range of ??, leading to bypass transition. The transition location displays a variation ∝ exp(??−1) for ?? ≤ 2.4% and ∝ ??−2 for 2.4% < ?? ≤ 7.0%, which can be explained by receptivity arguments. Finally, a model for a low-frequency cut-off for computing the effective ?? in atmospheric turbulence isderived considering TS waves.
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| 40. |
- Coelho Leite Fava, Thales, et al.
(författare)
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Numerical study of the hydrodynamic stability of a wind-turbine airfoil with a laminar separation bubble under free-stream turbulence
- 2023
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Ingår i: Physics of fluids. - : AIP Publishing. - 1070-6631 .- 1089-7666. ; 35:8
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Tidskriftsartikel (refereegranskat)abstract
- The interaction of several instabilities and the influence of free-stream turbulence on laminar-turbulent transition on a 20% thick wind-turbine blade section with a laminar separation bubble (LSB) are investigated with wall-resolved large-eddy simulations (LES). Turbulence intensities (TI) of 0%, 2.2%, 4.5%, 8.6%, and 15.6% at chord Reynolds number 100,000 are considered. Linear receptivity occurs for the most energetic disturbances; high-frequency perturbations are excited via non-linear mechanisms for TI≥8.6%. Unstable Tollmien–Schlichting (TS) waves appear in the inflectional flow region for TI≤4.5%, shifting to inviscid Kelvin–Helmholtz (KH) modes upon separation and forming spanwise rolls. Sub-harmonic secondary instability occurs for TI=0%, with rolls intertwining before transition. Streaks spanwise modulate the rolls and increase their growth rates with TI for TI≤4.5%, reducing separation and shifting transition upstream. The TI=4.5% case presents the highest perturbations, leading to the smallest LSB and most upstream transition. Earlier inception of TS/KH modes occurs on low-speed streaks, inducing premature transition. However, for TI=8.6%, the effect of the streaks is to stabilize the attached mean flow and front part of the LSB. This occurs due to the near-wall momentum deficit alleviation, leading to the transition delay and larger LSB than TI=4.5%. This also suppresses separation and completely stabilizes TS/KH modes for TI=15.6%. Linear stability theory predicts well the modal evolution for TI≤8.6%. Optimal perturbation analysis accurately computes the streak development upstream of the inflectional flow region but indicates higher amplification than LES downstream due to the capture of low-frequency, oblique modal instabilities from the LSB. Only low-amplitude [ O(1%)] streaks displayed exponential growth in the LES since non-linearity precludes the appearance of these modes.
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| 41. |
- Geschwindner, Stefan, et al.
(författare)
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Characterisation of de novo mutations in the C-terminal domain of proprotein convertase subtilisin/kexin type 9.
- 2015
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Ingår i: Protein Engineering Design & Selection. - : Oxford University Press (OUP). - 1741-0126 .- 1741-0134.
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Tidskriftsartikel (refereegranskat)abstract
- Proprotein convertase subtilisin/kexin type 9 (PCSK9) promotes the degradation of the hepatic low-density lipoprotein receptor (LDL-R) and is therefore a prominent therapeutic target for reducing LDL-cholesterol. The C-terminal domain of PCSK9 is unlikely to be involved in a direct extracellular interaction with the LDL-R. We probed the importance of the C-terminus for the degradation of the LDL-R by designing seven de novo mutants of PCSK9 that fill potential druggable cavities. The mutants were tested for their ability to diminish LDL uptake in human HepG2 cells and for affinity towards a calcium independent mutant of the EGF(A) domain of the human LDL-R. The later was done by a newly developed surface plasmon resonance-based assay format. We identified three mutant proteins (G517R, V610R and V644R) with decreased ability to block LDL uptake into HepG2 cells. These mutations define areas outside the direct interaction area between PCSK9 and the LDL-R that could be targeted to inhibit the PCSK9 triggered degradation of the LDL-R. We also describe the mechanistic rationalisation of the affinity changes seen with the natural occurring human D374Y (gain of function) mutation causing severe hypercholesterolaemia. The action of this mutant is due to a significantly decreased dissociation rate constant, whereas the mutation does not affect the association rate constant.
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| 42. |
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| 43. |
- Huisman, J. A., et al.
(författare)
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Assessing the impact of land use change on hydrology by ensemble modeling (LUCHEM) III : Scenario analysis
- 2009
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Ingår i: Advances in Water Resources. - : Elsevier BV. - 0309-1708 .- 1872-9657. ; 32:2, s. 159-170
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Tidskriftsartikel (refereegranskat)abstract
- An ensemble of 10 hydrological models was applied to the same set of land use change scenarios. There was general agreement about the direction of changes in the mean annual discharge and 90% discharge percentile predicted by the ensemble members, although a considerable range in the magnitude of predictions for the scenarios and catchments under consideration was obvious. Differences in the magnitude of the increase were attributed to the different mean annual actual evapotranspiration rates for each land use type. The ensemble of model runs was further analyzed with deterministic and probabilistic ensemble methods. The deterministic ensemble method based on a trimmed mean resulted in a single somewhat more reliable scenario prediction. The probabilistic reliability ensemble averaging (REA) method allowed a quantification of the model structure uncertainty in the scenario predictions. It was concluded that the use of a model ensemble has greatly increased our confidence in the reliability of the model predictions.
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| 44. |
- Kogan, Natalya M, et al.
(författare)
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Cannabidiol, a Major Non‐Psychotropic Cannabis Constituent Enhances Fracture Healing and Stimulates Lysyl Hydroxylase Activity in Osteoblasts
- 2015
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Ingår i: Journal of Bone and Mineral Research. - : Wiley. - 1523-4681 .- 0884-0431. ; 30:10, s. 1905-1913
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Tidskriftsartikel (refereegranskat)abstract
- Cannabinoid ligands regulate bone mass, but skeletal effects of cannabis (marijuana and hashish) have not been reported. Bone fractures are highly prevalent, involving prolonged immobilization and discomfort. Here we report that the major non-psychoactive cannabis constituent, cannabidiol (CBD), enhances the biomechanical properties of healing rat mid-femoral fractures. The maximal load and work-to-failure, but not the stiffness, of femurs from rats given a mixture of CBD and Δ9-tetrahydrocannabinol (THC) for 8 weeks were markedly increased by CBD. This effect is not shared by THC (the psychoactive component of cannabis), but THC potentiates the CBD stimulated work-to-failure at 6 weeks postfracture followed by attenuation of the CBD effect at 8 weeks. Using micro–computed tomography (μCT), the fracture callus size was transiently reduced by either CBD or THC 4 weeks after fracture but reached control level after 6 and 8 weeks. The callus material density was unaffected by CBD and/or THC. By contrast, CBD stimulated mRNA expression of Plod1 in primary osteoblast cultures, encoding an enzyme that catalyzes lysine hydroxylation, which is in turn involved in collagen crosslinking and stabilization. Using Fourier transform infrared (FTIR) spectroscopy we confirmed the increase in collagen crosslink ratio by CBD, which is likely to contribute to the improved biomechanical properties of the fracture callus. Taken together, these data show that CBD leads to improvement in fracture healing and demonstrate the critical mechanical role of collagen crosslinking enzymes. © 2015 American Society for Bone and Mineral Research.
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| 45. |
- Litnovsky, Andrey, et al.
(författare)
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Carbon transport, deposition and fuel accumulation in castellated structures exposed in TEXTOR
- 2007
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Ingår i: Journal of Nuclear Materials. - : Elsevier BV. - 0022-3115 .- 1873-4820. ; 367, s. 1481-1486
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Tidskriftsartikel (refereegranskat)abstract
- In order to maintain the thermo-mechanical durability of ITER it is proposed to castellate the interior surface of the first wall and divertor by splitting them into small-size cells [W. Daener et a]., Fusion Eng. Des. 61&62 (2002) 61]. A concern is the accumulation of fuel in the gaps of the castellation. In TEXTOR, molybdenum limiters were exposed in the scrape-off layer (SOL) plasma to assess fuel accumulation. The first limiter was exposed under deposition-dominated conditions. Carbon deposits were formed both on top surfaces and in the gaps. About 0.12% of the impinging D-fluence was found in the gaps. Another castellated limiter was exposed under erosion-dominated conditions. Deposited layers were found only on the plasma shadowed areas of the gaps. A significant amount of molybdenum from the limiter was found intermixed in the deposit. The gaps contained similar to 0.03% of the impinging D-fluence. Modeling was performed to simulate carbon transport into the gaps.
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| 46. |
- Litnovsky, A., et al.
(författare)
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Overview of material migration and mixing, fuel retention and cleaning of ITER-like castellated structures in TEXTOR
- 2011
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Ingår i: Journal of Nuclear Materials. - : Elsevier BV. - 0022-3115 .- 1873-4820. ; 415:1, s. S289-S292
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Tidskriftsartikel (refereegranskat)abstract
- Plasma-facing components (PFCs) in ITER will be castellated by splitting them into small-size blocks to maintain the thermo-mechanical stability. However, there are concerns in particular on retention of codeposited radioactive fuel in the gaps. An R&D program is underway in TEXTOR addressing this acute issue of castellation. Material migration and fuel inventory are investigated using long- and short-term discharge-resolved experiments with castellated structures in TEXTOR. Significant impurity transport to the gaps was detected and results were in part quantitatively reproduced with 3D-GAPS code. Deposits containing up to 70 at.% of tungsten on the gap areas closest to the plasma were detected in recent experiments. Deposition in the gaps accompanied by metal mixing demand for development of effective cleaning techniques. In experiments with ITER-like castellation, the gaps were cleaned from carbonaceous deposits using oxygen plasmas at 350 degrees C. This contribution contains an overview of experimental and modeling results along with recommendations for PFCs in ITER.
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| 47. |
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| 48. |
- Nebel, Bernd A., et al.
(författare)
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A Career in Catalysis : Bernhard Hauer
- 2023
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Ingår i: ACS Catalysis. - : American Chemical Society (ACS). - 2155-5435. ; 13:13, s. 8861-8889
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Forskningsöversikt (refereegranskat)abstract
- On the occasion of Professor Bernhard Hauer′s (partial) retirement, we reflect on and highlight his distinguished career in biocatalysis. Bernhard, a biologist by training, has greatly influenced biocatalysis with his vision and ideas throughout his four-decade career. The development of his career went hand in hand with the evolution of biocatalysis and the application and development of enzymes for chemical processes. In this Account, we present selected examples of his early work on the development of enzymes and their application in an industrial setting, with a focus on his specific contributions to harnessing the catalytic power of enzymes for novel reactions and the understanding and engineering of flexible loops and channels on catalysis.
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| 49. |
- Piston, Dominik, et al.
(författare)
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DJ-1 is a redox sensitive adapter protein for high molecular weight complexes involved in regulation of catecholamine homeostasis
- 2017
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Ingår i: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 26:20, s. 4028-4041
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Tidskriftsartikel (refereegranskat)abstract
- DJ-1 is an oxidation sensitive protein encoded by the PARK7 gene. Mutations in PARK7 are a rare cause of familial recessive Parkinson's disease (PD), but growing evidence suggests involvement of DJ-1 in idiopathic PD. The key clinical features of PD, rigidity and bradykinesia, result from neurotransmitter imbalance, particularly the catecholamines dopamine (DA) and noradrenaline. We report in human brain and human SH-SY5Y neuroblastoma cell lines that DJ-1 predominantly forms high molecular weight (HMW) complexes that included RNA metabolism proteins hnRNPA1 and PABP1 and the glycolysis enzyme GAPDH. In cell culture models the oxidation status of DJ-1 determined the specific complex composition. RNA sequencing indicated that oxidative changes to DJ-1 were concomitant with changes in mRNA transcripts mainly involved in catecholamine metabolism. Importantly, loss of DJ-1 function upon knock down (KD) or expression of the PD associated form L166P resulted in the absence of HMW DJ-1 complexes. In the KD model, the absence of DJ-1 complexes was accompanied by impairment in catecholamine homeostasis, with significant increases in intracellular DA and noraderenaline levels. These changes in catecholamines could be rescued by re-expression of DJ-1. This catecholamine imbalance may contribute to the particular vulnerability of dopaminergic and noradrenergic neurons to neurodegeneration in PARK7-related PD. Notably, oxidised DJ-1 was significantly decreased in idiopathic PD brain, suggesting altered complex function may also play a role in the more common sporadic form of the disease.
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| 50. |
- Popescu, A., et al.
(författare)
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Increasing transparency and privacy for online social network users – USEMP value model, scoring framework and legal
- 2016
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Ingår i: Privacy Technologies and Policy. - Cham : Encyclopedia of Global Archaeology/Springer Verlag. - 9783319314556 - 9783319314563 ; , s. 38-59
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Konferensbidrag (refereegranskat)abstract
- In this paper we present research results from the multi-disciplinary EU research project USEMP (USEMP is a project funded from EU research framework, additional information about project scope and deliverables are available at project’s public website at: http://www.usemp-project.eu/). In particular, we look at the legal aspects of personal data licensing and profile transparency, the development of a personal data value model in Online Social Networks (OSNs) and the development of disclosure scoring and personal data value frameworks. In the first part of the paper we show how personal data usage licensing and profile transparency for OSN activities provides for Data Protection by Design (DPbD). We also present an overview of the existing personal data monetization ecosystem in OSNs and its possible evolutions for increasing privacy and transparency for consumers about their OSN presence. In the last part of the paper, we describe the USEMP scoring framework for personal information disclosure and data value that can assist users to better perceive how their privacy is affected by their OSN presence and what the value of their OSN activities is.
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