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- Mercuri, E., et al.
(författare)
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Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study
- 2020
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Ingår i: Journal of Comparative Effectiveness Research. - : Becaris Publishing Limited. - 2042-6305 .- 2042-6313. ; 9:5, s. 341-360
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Tidskriftsartikel (refereegranskat)abstract
- Aim: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, multicenter registry providing real-world evidence regarding ataluren use in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). We examined the effectiveness of ataluren + standard of care (SoC) in the registry versus SoC alone in the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS), DMD genotype-phenotype/-ataluren benefit correlations and ataluren safety. Patients & methods: Propensity score matching was performed to identify STRIDE and CINRG DNHS patients who were comparable in established disease progression predictors (registry cut-off date, 9 July 2018). Results & conclusion: Kaplan-Meier analyses demonstrated that ataluren + SoC significantly delayed age at loss of ambulation and age at worsening performance in timed function tests versus SoC alone (p <= 0.05). There were no DMD genotype-phenotype/ataluren benefit correlations. Ataluren was well tolerated. These results indicate that ataluren + SoC delays functional milestones of DMD progression in patients with nmDMD in routine clinical practice. ClinicalTrials.gov identifier: NCT02369731. ClinicalTrials.gov identifier: NCT02369731.
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| 6. |
- Marconi, Alessandro, et al.
(författare)
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ELT-HIRES, the high resolution spectrograph for the ELT : Phase A study and path to construction
- 2020
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Ingår i: Ground-based and Airborne Instrumentation for Astronomy VIII. - : SPIE - International Society for Optical Engineering. - 9781510636828 - 9781510636811
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Konferensbidrag (refereegranskat)abstract
- HIRES is the high-resolution spectrograph of the European Extremely Large Telescope at optical and near-infrared wavelengths. It consists of three fibre-fed spectrographs providing a wavelength coverage of 0.4-1.8 µm (goal 0.35-2.4 µm) at a spectral resolution of 100,000. The fibre-feeding allows HIRES to have several, interchangeable observing modes including a SCAO module and a small diffraction-limited IFU in the NIR. Therefore, it will be able to operate both in seeing- and diffraction-limited modes. Its modularity will ensure that HIRES can be placed entirely on the Nasmyth platform, if enough mass and volume is available, or part on the Nasmyth and part in the Coud`e room. ELT-HIRES has a wide range of science cases spanning nearly all areas of research in astrophysics and even fundamental physics. Among the top science cases there are the detection of biosignatures from exoplanet atmospheres, finding the fingerprints of the first generation of stars (PopIII), tests on the stability of Nature’s fundamental couplings, and the direct detection of the cosmic acceleration. The HIRES consortium is composed of more than 30 institutes from 14 countries, forming a team of more than 200 scientists and engineers.
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| 7. |
- Figlioli, G, et al.
(författare)
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The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
- 2020
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Ingår i: Cancers. - : MDPI AG. - 2072-6694. ; 12:2
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Tidskriftsartikel (refereegranskat)abstract
- Germline protein truncating variants (PTVs) in the FANCM gene have been associated with a 2–4-fold increased breast cancer risk in case-control studies conducted in different European populations. However, the distribution and the frequency of FANCM PTVs in Europe have never been investigated. In the present study, we collected the data of 114 European female breast cancer cases with FANCM PTVs ascertained in 20 centers from 13 European countries. We identified 27 different FANCM PTVs. The p.Gln1701* PTV is the most common PTV in Northern Europe with a maximum frequency in Finland and a lower relative frequency in Southern Europe. On the contrary, p.Arg1931* seems to be the most common PTV in Southern Europe. We also showed that p.Arg658*, the third most common PTV, is more frequent in Central Europe, and p.Gln498Thrfs*7 is probably a founder variant from Lithuania. Of the 23 rare or unique FANCM PTVs, 15 have not been previously reported. We provide here the initial spectrum of FANCM PTVs in European breast cancer cases.
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| 8. |
- Bluhm, P., et al.
(författare)
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Precise mass and radius of a transiting super-Earth planet orbiting the M dwarf TOI-1235: a planet in the radius gap?
- 2020
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 639
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Tidskriftsartikel (refereegranskat)abstract
- We report the confirmation of a transiting planet around the bright weakly active M0.5 V star TOI-1235 (TYC 4384-1735-1, V ≈ 11.5 mag), whose transit signal was detected in the photometric time series of sectors 14, 20, and 21 of the TESS space mission. We confirm the planetary nature of the transit signal, which has a period of 3.44 d, by using precise RV measurements with the CARMENES, HARPS-N, and iSHELL spectrographs, supplemented by high-resolution imaging and ground-based photometry. A comparison of the properties derived for TOI-1235 b with theoretical models reveals that the planet has a rocky composition, with a bulk density slightly higher than that of Earth. In particular, we measure a mass of Mp = 5.9 ± 0.6 M⊕ and a radius of Rp = 1.69 ± 0.08 R⊕, which together result in a density of ρp = 6.7- 1.1+ 1.3 g cm-3. When compared with other well-characterized exoplanetary systems, the particular combination of planetary radius and mass places our discovery in the radius gap, which is a transition region between rocky planets and planets with significant atmospheric envelopes. A few examples of planets occupying the radius gap are known to date. While the exact location of the radius gap for M dwarfs is still a matter of debate, our results constrain it to be located at around 1.7 R⊕ or larger at the insolation levels received by TOI-1235 b (~60 S⊕). This makes it an extremely interesting object for further studies of planet formation and atmospheric evolution.
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| 9. |
- Sestito, Federico, et al.
(författare)
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The Pristine survey – X. A large population of low-metallicity stars permeates the Galactic disc
- 2020
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Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966 .- 1745-3925 .- 1745-3933. ; 497:1, s. L7-L12
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Tidskriftsartikel (refereegranskat)abstract
- The orbits of the least chemically enriched stars open a window on the formation of our Galaxy when it was still in its infancy. The common picture is that these low-metallicity stars are distributed as an isotropic, pressure-supported component since these stars were either accreted from the early building blocks of the assembling Milky Way (MW), or were later brought by the accretion of faint dwarf galaxies. Combining the metallicities and radial velocities from the Pristine and LAMOST surveys and Gaia DR2 parallaxes and proper motions for an unprecedented large and unbiased sample of 1027 very metal poor stars at [Fe/H] ≤ −2.5 dex, we show that this picture is incomplete. We find that 31 per cent of the stars that currently reside spatially in the disc (|Z|≤3kpc) do not venture outside of the disc plane throughout their orbit. Moreover, this sample shows strong statistical evidence (at the 5.0σ level) of asymmetry in their kinematics, favouring prograde motion. The discovery of this population implies that a significant fraction of stars with iron abundances [Fe/H] ≤ −2.5 dex merged into, formed within, or formed concurrently with the MW disc and that the history of the disc was quiet enough to allow them to retain their disc-like orbital properties, challenging theoretical and cosmological models.
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| 10. |
- Amarsi, Anish, et al.
(författare)
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The GALAH Survey : non-LTE departure coefficients for large spectroscopic surveys
- 2020
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 642
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Tidskriftsartikel (refereegranskat)abstract
- Massive sets of stellar spectroscopic observations are rapidly becoming available and these can be used to determine the chemical composition and evolution of the Galaxy with unprecedented precision. One of the major challenges in this endeavour involves constructing realistic models of stellar spectra with which to reliably determine stellar abundances. At present, large stellar surveys commonly use simplified models that assume that the stellar atmospheres are approximately in local thermodynamic equilibrium (LTE). To test and ultimately relax this assumption, we have performed non-LTE calculations for 13 different elements (H, Li, C, N, O, Na, Mg, Al, Si, K, Ca, Mn, and Ba), using recent model atoms that have physically-motivated descriptions for the inelastic collisions with neutral hydrogen, across a grid of 3756 1D MARCS model atmospheres that spans 3000 <= T-eff/K <= 8000, - 0.5 <= log g/cm s(-2) <= 5.5, and - 5 <= [Fe/H] <= 1. We present the grids of departure coefficients that have been implemented into the GALAH DR3 analysis pipeline in order to complement the extant non-LTE grid for iron. We also present a detailed line-by-line re-analysis of 50 126 stars from GALAH DR3. We found that relaxing LTE can change the abundances by between - 0.7 dex and + 0.2 dex for different lines and stars. Taking departures from LTE into account can reduce the dispersion in the [A/Fe] versus [Fe/H] plane by up to 0.1 dex, and it can remove spurious differences between the dwarfs and giants by up to 0.2 dex. The resulting abundance slopes can thus be qualitatively different in non-LTE, possibly with important implications for the chemical evolution of our Galaxy. The grids of departure coefficients are publicly available and can be implemented into LTE pipelines to make the most of observational data sets from large spectroscopic surveys.
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