| 1. |
- Bouyoucef, S E, et al.
(författare)
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Poster Session 2 : Monday 4 May 2015, 08
- 2015
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Ingår i: European Heart Journal Cardiovascular Imaging. - : Oxford University Press (OUP). - 2047-2404 .- 2047-2412. ; 16 Suppl 1
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Tidskriftsartikel (refereegranskat)
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| 2. |
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| 3. |
- Liu, Z. G., et al.
(författare)
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Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features
- 2023
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Ingår i: Human Molecular Genetics. - 0964-6906 .- 1460-2083. ; 32:20, s. 2981-2995
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Tidskriftsartikel (refereegranskat)abstract
- Protein phosphatase 1 regulatory subunit 3F (PPP1R3F) is a member of the glycogen targeting subunits (GTSs), which belong to the large group of regulatory subunits of protein phosphatase 1 (PP1), a major eukaryotic serine/threonine protein phosphatase that regulates diverse cellular processes. Here, we describe the identification of hemizygous variants in PPP1R3F associated with a novel X-linked recessive neurodevelopmental disorder in 13 unrelated individuals. This disorder is characterized by developmental delay, mild intellectual disability, neurobehavioral issues such as autism spectrum disorder, seizures and other neurological findings including tone, gait and cerebellar abnormalities. PPP1R3F variants segregated with disease in affected hemizygous males that inherited the variants from their heterozygous carrier mothers. We show that PPP1R3F is predominantly expressed in brain astrocytes and localizes to the endoplasmic reticulum in cells. Glycogen content in PPP1R3F knockout astrocytoma cells appears to be more sensitive to fluxes in extracellular glucose levels than in wild-type cells, suggesting that PPP1R3F functions in maintaining steady brain glycogen levels under changing glucose conditions. We performed functional studies on nine of the identified variants and observed defects in PP1 binding, protein stability, subcellular localization and regulation of glycogen metabolism in most of them. Collectively, the genetic and molecular data indicate that deleterious variants in PPP1R3F are associated with a new X-linked disorder of glycogen metabolism, highlighting the critical role of GTSs in neurological development. This research expands our understanding of neurodevelopmental disorders and the role of PP1 in brain development and proper function.
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| 4. |
- Arjoni, D. H., et al.
(författare)
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Experimental Evaluation of the Human Performance on a RoboticFlight Simulator based on FOQA Parameters
- 2016
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Ingår i: Proceedings of the Aerospace Technology Congress. - Stockholm. ; , s. 1-11
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Konferensbidrag (refereegranskat)abstract
- The SIVOR project, currently being developed by ITA and Embraer, consists of designing andimplementing a high fidelity flight simulator based on the use of COTS industrial robots. The aim of theproject is to provide a cost-efficient and flexible platform that can be used along the design phases of theaircraft. One of the advantages of an industrial robot over the traditional Stewart platform is theavailability of a large workspace, which provides more flexibility for defining the washout filter. Thisfilter converts the aircraft dynamics into robot movements, which has a limited workspace. The mainpurpose of the flight simulator is to provide a motion feeling similar to the one imposed by the aircraftmovements in a real flight. The representativeness of the motion cue is usually evaluated in a qualitativeway by the pilots that fly the simulator. Quantitative methods to evaluate the entire range of actuation of asimulator are complex, inducing tests in fractions of the flight to increase performance. In this work, wediscuss the use of FOQA (Flight Operational Quality Assurance) as an additional quantitative tool for theevaluation of the motion cue in the SIVOR flight simulator. FOQA is a voluntary safety program fromFAA, detailed in AC-120-82. It proposes a set of parameters that can be used by airliners to analyse flightsafety and increase operational efficiency. The verification of FOQA parameters checks whether or notthe pilot complies with the standard operational procedures defined by the airliners and aircraftmanufacturers. The purpose of this work is to analyse whether or not, and to what extent, the FOQAparameters can be used to evaluate the quality of the motion cue of flight simulators. For this purpose, wedefine an experimental procedure that compares flights performed by pilots under different motionmodes. It then calculates a set of behavioural parameters that has been proposed in order to quantify howthe motion affects the inputs of the pilot. The results are submitted to ANOVA statistical analysis thatverifies the relevance of the motion factor. Finally, we discuss the capability of a FOQA basedexperiment to estimate the contribution of the motion to the realism of the flight simulation.
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| 5. |
- Roziková, M., et al.
(författare)
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Electrolytic conductivity at pure water level final report
- 2020
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Ingår i: Metrologia. - : IOP Publishing Ltd. - 0026-1394 .- 1681-7575. ; 58:1 A
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Tidskriftsartikel (refereegranskat)abstract
- Electrolytic conductivity in aqueous solutions is one of the most common electrochemical measurement techniques in industry. Since it is sensitive to the amount content of dissolved ions in a solution, a limiting value for conductivity is a clear and simple quality criterium for the ionic purity of water. The relevant measuring range for pure water applications is roughly between 0.055 μS cm-1 (ultrapure water) and 150 μS cm-1 at 25 °C. For instance, the European, Japanese and United States (USP) Pharmacopoeia have specified the requirements for purified water, highly purified water and water for injection for pharmaceutical use based on conductiv-ity. Sectors that also use conductivity limits for water purity are electrical power production, food industry, electronic industry and analytical laboratories. At low conductivity levels it is not feasible to circulate water samples for comparison measure-ments, since the conductivity value is instable due to inevitable ionic contamination. The main contamination results from carbon dioxide in ambient air that dissolves in water and builds H3O+ and hydrogen carbonate ions. The contribution of these ions to conductivity is around 1 μS cm-1. Hence, it is impossible to provide stable samples having usable uncertainties in the conductivity range of interest. EURAMET 1271, performed in 2013, was the first successful comparison measurement of pure water conductivity. In the meanwhile, more NMIs, the majority of which is situated in Europe, have built measurement capabilities in the pure water range. EURAMRET 1271 covered a measurement range up to 50 μS cm-1, whereas more and more customers request conductivity cell calibration in the range up to 150 μS cm-1. Consequently, this comparison intends to extend the measurement range and to enable more NMIs to get support for potential CMCs. Therefore, this comparison is additionally intended being a supplementary CCQM comparison. A commercial conductivity measurement meter, including a conductivity measurement cell, was used for the comparison in a Round-Robin scheme. The devices were provided by PTB and were sent from one institute to another. Each institute had to measure the conductivity of a reference solution using the conductivity meter. The reference solution could either be pure water or a measurement standard solution that was reasonably stable in the range of interest. In the first scheme, the cell had to be integrated in a closed pure water flow though system to minimize impurification by CO2. An adequate fixture for this setup was provided by PTB. In the second scheme, the cell was immersed into the measurement standard solution under tem-perature-controlled conditions. Essentially, the institutes had to report the conductivity values indicated by the conductivity meter and the conductivity reference value assigned to the water in the flow though system or that of the measurement standard solution, respectively. The co-ordinating institute calculated adjusted cell constants for the cell from the reported values, which were used to calculate linking conductivities, the actual quantities to be finally compared. The results showed good equivalence in all conductivity ranges, with only a few inconsistent values. Adequate comparison reference values are suggested that can serve to calculate robust degrees of equivalences for the participants usable to support respective CMC claims.
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| 6. |
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| 7. |
- Grochowski, CM, et al.
(författare)
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Deciphering genomic inversions
- 2020
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Ingår i: EUROPEAN JOURNAL OF HUMAN GENETICS. - 1018-4813. ; 28:SUPPL 1, s. 117-118
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)
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| 8. |
- Moreira, A. H., et al.
(författare)
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Experimental evaluation of the contribution of adding a motion system to an EDS
- 2016
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Ingår i: Proceedings of the Aerospace Technology Congress. - Stockholm. ; , s. 1-10
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Konferensbidrag (refereegranskat)abstract
- The use of flight simulators in pilot training campaigns has become a cheaper and saferalternative to the use of a real aircraft, as simulators will not cause any kind of humaninjury or vehicular damages. However, the degree of fidelity of the simulation is of theutmost importance for this application, thus it has become the subject of discussion inseveral studies.It is understood as a flight simulator with a high degree of fidelity, all kind of simulatorsthat are capable of providing motion cues that are sufficiently similar to those obtainedduring an actual flight, so much so that a human would be incapable of noticing anydifference (Giordano et al., 2010). Many argue that the only way to obtain such a highquality of simulation is by using a motion platform, which makes the cost of thisequipment the same order of magnitude of a real aircraft.Several recent studies have contributed in this topic of discussion, the influence of themotion platform is still unclear (McCauley, 2006), (Proctor, Bauer and Lucario, 2007),(McDaniel, Scott and Browning, 1983). Bürki-cohen, Sparko and Bellman (2011) madea thorough review of the need of motion platforms in aircraft simulators while discussesthe need of motion platforms in military helicopter simulators, butThe objective of this work is to analyze the contribution of adding a motion system to anEDS (Engineering Development System), yielding a flexible and reconfigurablesimulator, available as soon as the official aerodynamic databank is made available. Theadvantage (if any) of creating an EDS with motion platform is that it brings to the aircraftdevelopment cycle, the opportunity of anticipating the knowledge acquired in thelearning-by-using approach, by means of a simulation environment that resembles thebehavior of the final product, especially in the early development phases.
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