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Sökning: WFRF:(Barth A. J.)

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51.
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52.
  • Redecke, Lars, et al. (författare)
  • Natively inhibited Trypanosoma brucei cathepsin B structure determined by using an X-ray laser.
  • 2013
  • Ingår i: Science (New York, N.Y.). - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 339:6116, s. 227-30
  • Tidskriftsartikel (refereegranskat)abstract
    • The Trypanosoma brucei cysteine protease cathepsin B (TbCatB), which is involved in host protein degradation, is a promising target to develop new treatments against sleeping sickness, a fatal disease caused by this protozoan parasite. The structure of the mature, active form of TbCatB has so far not provided sufficient information for the design of a safe and specific drug against T. brucei. By combining two recent innovations, in vivo crystallization and serial femtosecond crystallography, we obtained the room-temperature 2.1 angstrom resolution structure of the fully glycosylated precursor complex of TbCatB. The structure reveals the mechanism of native TbCatB inhibition and demonstrates that new biomolecular information can be obtained by the "diffraction-before-destruction" approach of x-ray free-electron lasers from hundreds of thousands of individual microcrystals.
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53.
  • Rodriguez, Sébastien, et al. (författare)
  • Science goals and new mission concepts for future exploration of Titan's atmosphere, geology and habitability : titan POlar scout/orbitEr and in situ lake lander and DrONe explorer (POSEIDON)
  • 2022
  • Ingår i: Experimental astronomy. - : Springer Science and Business Media LLC. - 0922-6435 .- 1572-9508. ; 54:2-3, s. 911-973
  • Tidskriftsartikel (refereegranskat)abstract
    • In response to ESA’s “Voyage 2050” announcement of opportunity, we propose an ambitious L-class mission to explore one of the most exciting bodies in the Solar System, Saturn’s largest moon Titan. Titan, a “world with two oceans”, is an organic-rich body with interior-surface-atmosphere interactions that are comparable in complexity to the Earth. Titan is also one of the few places in the Solar System with habitability potential. Titan’s remarkable nature was only partly revealed by the Cassini-Huygens mission and still holds mysteries requiring a complete exploration using a variety of vehicles and instruments. The proposed mission concept POSEIDON (Titan POlar Scout/orbitEr and In situ lake lander DrONe explorer) would perform joint orbital and in situ investigations of Titan. It is designed to build on and exceed the scope and scientific/technological accomplishments of Cassini-Huygens, exploring Titan in ways that were not previously possible, in particular through full close-up and in situ coverage over long periods of time. In the proposed mission architecture, POSEIDON consists of two major elements: a spacecraft with a large set of instruments that would orbit Titan, preferably in a low-eccentricity polar orbit, and a suite of in situ investigation components, i.e. a lake lander, a “heavy” drone (possibly amphibious) and/or a fleet of mini-drones, dedicated to the exploration of the polar regions. The ideal arrival time at Titan would be slightly before the next northern Spring equinox (2039), as equinoxes are the most active periods to monitor still largely unknown atmospheric and surface seasonal changes. The exploration of Titan’s northern latitudes with an orbiter and in situ element(s) would be highly complementary in terms of timing (with possible mission timing overlap), locations, and science goals with the upcoming NASA New Frontiers Dragonfly mission that will provide in situ exploration of Titan’s equatorial regions, in the mid-2030s. 
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54.
  • Colas, C, et al. (författare)
  • Understanding Experiences of Fibromyalgia Patients Involved in the Fimouv Study During COVID-19 Lockdown
  • 2021
  • Ingår i: Frontiers in psychology. - : Frontiers Media SA. - 1664-1078. ; 12, s. 645092-
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction:The COVID-19 pandemic implied a period of lockdown for the general population, increasing the risk to develop some physical or mental disorders. In fibromyalgia patients, these disorders are part of the large clinical picture of the syndrome. Fibromyalgia management is especially based on a regular practice of physical activity. Lockdown imposed a break in rhythms, requiring a restructuring of scheduling. Thus, the present study aimed to investigate the experiences of fibromyalgia patients during COVID-19 lockdown using a qualitative analysis.Method:19 patients (52 ± 9 years old) who completed a 3-month therapeutic education and/or supervised physical activity program were invited to participate (Fimouv study, Trial registration: ClinicalTrials.gov NCT04107948). A sociologist collected data by means of semi-structured interviews and analyzed them using thematic content analysis.Results:Lockdown exacerbated the main symptoms of fibromyalgia, but adjusting the rhythms of life to fluctuations of these symptoms allowed a better quality of life. Patients felt the lack of physical activity and 68% found alternatives to remain physically active. The reduction of social constraints allowed them to better contend with their pathology. Fibromyalgia stopped being a main priority.Conclusion:Lockdown was positively experienced by fibromyalgia patients. They linked the absence of physical activity with increased pain and fatigue. Nevertheless, reducing social constraints could be a key for fibromyalgia management, where symptoms seemed to take less space in everyday life.Clinical Trial Registration:www.ClinicalTrials.gov, identifier: NCT04107948.
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55.
  • Gurholt, Tiril P., et al. (författare)
  • Intracranial and subcortical volumes in adolescents with early‐onset psychosis : A multisite mega‐analysis from the ENIGMA consortium
  • 2020
  • Ingår i: Human Brain Mapping. - Stockholm : Wiley. - 1065-9471 .- 1097-0193. ; 43:1, s. 373-384
  • Tidskriftsartikel (refereegranskat)abstract
    • Early-onset psychosis disorders are serious mental disorders arising before the age of 18 years. Here, we investigate the largest neuroimaging dataset, to date, of patients with early-onset psychosis and healthy controls for differences in intracranial and subcortical brain volumes. The sample included 263 patients with early-onset psychosis (mean age: 16.4 ± 1.4 years, mean illness duration: 1.5 ± 1.4 years, 39.2% female) and 359 healthy controls (mean age: 15.9 ± 1.7 years, 45.4% female) with magnetic resonance imaging data, pooled from 11 clinical cohorts. Patients were diagnosed with early-onset schizophrenia (n = 183), affective psychosis (n = 39), or other psychotic disorders (n = 41). We used linear mixed-effects models to investigate differences in intracranial and subcortical volumes across the patient sample, diagnostic subgroup and antipsychotic medication, relative to controls. We observed significantly lower intracranial (Cohen's d = −0.39) and hippocampal (d = −0.25) volumes, and higher caudate (d = 0.25) and pallidum (d = 0.24) volumes in patients relative to controls. Intracranial volume was lower in both early-onset schizophrenia (d = −0.34) and affective psychosis (d = −0.42), and early-onset schizophrenia showed lower hippocampal (d = −0.24) and higher pallidum (d = 0.29) volumes. Patients who were currently treated with antipsychotic medication (n = 193) had significantly lower intracranial volume (d = −0.42). The findings demonstrate a similar pattern of brain alterations in early-onset psychosis as previously reported in adult psychosis, but with notably low intracranial volume. The low intracranial volume suggests disrupted neurodevelopment in adolescent early-onset psychosis.
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56.
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57.
  • Olofsson, Henrik, 1972, et al. (författare)
  • Profiling the EMBRACE tile beam using GPS satellite carriers
  • 2009
  • Ingår i: Proceedings of Science. - 1824-8039. ; 132, s. 253-257
  • Konferensbidrag (refereegranskat)abstract
    • All rights reserved. The L2C carriers of multiple GPS satellites have been used to trace out a nearly complete beam pattern out to 45 away from the main lobe centre for a horizontally mounted single EMBRACE tile. The beam was formed along its bore-sight direction, i.e., staring at the local sky zenith. The result is very close to design specifications although there is evidence for at least one side lobe rising above the achieved noise level. We have also used the older L2 carrier to estimate the system temperature, although an exact figure in addition requires knowledge of the aperture efficiency. © 2018 Sissa Medialab Srl.
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58.
  • Pecunia, Vincenzo, et al. (författare)
  • Roadmap on energy harvesting materials
  • 2023
  • Ingår i: Journal of Physics. - : IOP Publishing. - 2515-7639. ; 6:4
  • Tidskriftsartikel (refereegranskat)abstract
    • Ambient energy harvesting has great potential to contribute to sustainable development and address growing environmental challenges. Converting waste energy from energy-intensive processes and systems (e.g. combustion engines and furnaces) is crucial to reducing their environmental impact and achieving net-zero emissions. Compact energy harvesters will also be key to powering the exponentially growing smart devices ecosystem that is part of the Internet of Things, thus enabling futuristic applications that can improve our quality of life (e.g. smart homes, smart cities, smart manufacturing, and smart healthcare). To achieve these goals, innovative materials are needed to efficiently convert ambient energy into electricity through various physical mechanisms, such as the photovoltaic effect, thermoelectricity, piezoelectricity, triboelectricity, and radiofrequency wireless power transfer. By bringing together the perspectives of experts in various types of energy harvesting materials, this Roadmap provides extensive insights into recent advances and present challenges in the field. Additionally, the Roadmap analyses the key performance metrics of these technologies in relation to their ultimate energy conversion limits. Building on these insights, the Roadmap outlines promising directions for future research to fully harness the potential of energy harvesting materials for green energy anytime, anywhere.
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59.
  • Rice, Gillian I, et al. (författare)
  • Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
  • 2017
  • Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 1439-1899 .- 0174-304X. ; 48:3, s. 166-184
  • Tidskriftsartikel (refereegranskat)abstract
    • We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in ADAR1. The clinicoradiological phenotype encompassed a spectrum of Aicardi-Goutières syndrome, isolated bilateral striatal necrosis, spastic paraparesis with normal neuroimaging, a progressive spastic dystonic motor disorder, and adult-onset psychological difficulties with intracranial calcification. Homozygous missense mutations were recorded in five families. We observed a p.Pro193Ala variant in the heterozygous state in 22 of 23 families with compound heterozygous mutations. We also ascertained 11 cases from nine families with a p.Gly1007Arg dominant-negative mutation, which occurred de novo in four patients, and was inherited in three families in association with marked phenotypic variability. In 50 of 52 samples from 34 patients, we identified a marked upregulation of type I interferon-stimulated gene transcripts in peripheral blood, with a median interferon score of 16.99 (interquartile range [IQR]: 10.64-25.71) compared with controls (median: 0.93, IQR: 0.57-1.30). Thus, mutations in ADAR1 are associated with a variety of clinically distinct neurological phenotypes presenting from early infancy to adulthood, inherited either as an autosomal recessive or dominant trait. Testing for an interferon signature in blood represents a useful biomarker in this context.
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60.
  • Bushby, Katharine, et al. (författare)
  • Ataluren treatment of patients with nonsense mutation dystrophinopathy.
  • 2014
  • Ingår i: Muscle & nerve. - : Wiley. - 1097-4598 .- 0148-639X. ; 50:4, s. 477-87
  • Tidskriftsartikel (refereegranskat)abstract
    • Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders.
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