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- Aad, G, et al.
(författare)
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- 2015
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swepub:Mat__t
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- Aad, G., et al.
(författare)
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- 2015
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Tidskriftsartikel (refereegranskat)
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- van Rheenen, W, et al.
(författare)
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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
- 2021
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 53:12, s. 1636-
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Tidskriftsartikel (refereegranskat)abstract
- Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons.
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7. |
- Leleu, A., et al.
(författare)
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Six transiting planets and a chain of Laplace resonances in TOI-178
- 2021
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 649
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Tidskriftsartikel (refereegranskat)abstract
- Determining the architecture of multi-planetary systems is one of the cornerstones of understanding planet formation and evolution. Resonant systems are especially important as the fragility of their orbital configuration ensures that no significant scattering or collisional event has taken place since the earliest formation phase when the parent protoplanetary disc was still present. In this context, TOI-178 has been the subject of particular attention since the first TESS observations hinted at the possible presence of a near 2:3:3 resonant chain. Here we report the results of observations from CHEOPS, ESPRESSO, NGTS, and SPECULOOS with the aim of deciphering the peculiar orbital architecture of the system. We show that TOI-178 harbours at least six planets in the super-Earth to mini-Neptune regimes, with radii ranging from 1.152 to 2.87 Earth radii and periods of 1.91, 3.24, 6.56, 9.96, 15.23, and 20.71 days. All planets but the innermost one form a 2:4:6:9:12 chain of Laplace resonances, and the planetary densities show important variations from planet to planet, jumping from 1.02 to 0.177 times the Earth's density between planets c and d. Using Bayesian interior structure retrieval models, we show that the amount of gas in the planets does not vary in a monotonous way, contrary to what one would expect from simple formation and evolution models and unlike other known systems in a chain of Laplace resonances. The brightness of TOI-178 (H = 8.76 mag, J = 9.37 mag, V = 11.95 mag) allows for a precise characterisation of its orbital architecture as well as of the physical nature of the six presently known transiting planets it harbours. The peculiar orbital configuration and the diversity in average density among the planets in the system will enable the study of interior planetary structures and atmospheric evolution, providing important clues on the formation of super-Earths and mini-Neptunes. -0.070 -0.13 -0.23 -0.061 +0.073 +0.14 +0.28 +0.055
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- Luque, R., et al.
(författare)
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A resonant sextuplet of sub-Neptunes transiting the bright star HD 110067
- 2023
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Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 623:7989, s. 932-937
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Tidskriftsartikel (refereegranskat)abstract
- Planets with radii between that of the Earth and Neptune (hereafter referred to as ‘sub-Neptunes’) are found in close-in orbits around more than half of all Sun-like stars 1,2. However, their composition, formation and evolution remain poorly understood 3. The study of multiplanetary systems offers an opportunity to investigate the outcomes of planet formation and evolution while controlling for initial conditions and environment. Those in resonance (with their orbital periods related by a ratio of small integers) are particularly valuable because they imply a system architecture practically unchanged since its birth. Here we present the observations of six transiting planets around the bright nearby star HD 110067. We find that the planets follow a chain of resonant orbits. A dynamical study of the innermost planet triplet allowed the prediction and later confirmation of the orbits of the rest of the planets in the system. The six planets are found to be sub-Neptunes with radii ranging from 1.94R ⊕ to 2.85R ⊕. Three of the planets have measured masses, yielding low bulk densities that suggest the presence of large hydrogen-dominated atmospheres.
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- Serrano, L. M., et al.
(författare)
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The HD 93963 A transiting system: A 1.04d super-Earth and a 3.65 d sub-Neptune discovered by TESS and CHEOPS
- 2022
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 667
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Tidskriftsartikel (refereegranskat)abstract
- We present the discovery of two small planets transiting HD 93963A (TOI-1797), a GOV star (M-* = 1.109 +/- 0.043M(circle dot), R-* = 1.043 +/- 0.009 R-circle dot) in a visual binary system. We combined TESS and CHEOPS space-borne photometry with MuSCAT 2 ground-based photometry, 'Alopeke and PHARO high-resolution imaging, TRES and FIES reconnaissance spectroscopy, and SOPHIE radial velocity measurements. We validated and spectroscopically confirmed the outer transiting planet HD 93963 A c, a sub-Neptune with an orbital period of P-c approximate to 3.65 d that was reported to be a TESS object of interest (TOI) shortly after the release of Sector 22 data. HD 93963 A c has amass of M-c = 19.2 +/- 4.1 M-circle plus and a radius of R-c = 3.228 +/- 0.059 R-circle plus, implying a mean density of rho(c) = 3.1 +/- 0.7 g cm(-3). The inner object, HD 93963 A b, is a validated 1.04 d ultra-short period (USP) transiting super-Earth that we discovered in the TESS light curve and that was not listed as a TOI, owing to the low significance of its signal (TESS signal-to-noise ratio approximate to 6.7, TESS + CHEOPS combined transit depth D-b = 141.5(-8.3)(+8.5) ppm). We intensively monitored the star with CHEOPS by performing nine transit observations to confirm the presence of the inner planet and validate the system. HD 93963 A b is the first small (R-b = 1.35 +/- 0.042 R-circle plus) USP planet discovered and validated by TESS and CHEOPS. Unlike planet c, HD 93963 Ab is not significantly detected in our radial velocities (M-b = 7.8 +/- 3.2 M-circle plus). The two planets are on either side of the radius valley, implying that they could have undergone completely different evolution processes. We also discovered a linear trend in our Doppler measurements, suggesting the possible presence of a long-period outer planet. With a V-band magnitude of 9.2, HD 93963 A is among the brightest stars known to host a USP planet, making it one of the most favourable targets for precise mass measurement via Doppler spectroscopy and an important laboratory to test formation, evolution, and migration models of planetary systems hosting ultra-short period planets.
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- Korenblik, R., et al.
(författare)
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Dragon 1 Protocol Manuscript : Training, Accreditation, Implementation and Safety Evaluation of Portal and Hepatic Vein Embolization (PVE/HVE) to Accelerate Future Liver Remnant (FLR) Hypertrophy
- 2022
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Ingår i: Cardiovascular and Interventional Radiology. - : Springer. - 0174-1551 .- 1432-086X. ; 45, s. 1391-1398
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Tidskriftsartikel (refereegranskat)abstract
- Study Purpose The DRAGON 1 trial aims to assess training, implementation, safety and feasibility of combined portal- and hepatic-vein embolization (PVE/HVE) to accelerate future liver remnant (FLR) hypertrophy in patients with borderline resectable colorectal cancer liver metastases. Methods The DRAGON 1 trial is a worldwide multicenter prospective single arm trial. The primary endpoint is a composite of the safety of PVE/HVE, 90-day mortality, and one year accrual monitoring of each participating center. Secondary endpoints include: feasibility of resection, the used PVE and HVE techniques, FLR-hypertrophy, liver function (subset of centers), overall survival, and disease-free survival. All complications after the PVE/HVE procedure are documented. Liver volumes will be measured at week 1 and if applicable at week 3 and 6 after PVE/HVE and follow-up visits will be held at 1, 3, 6, and 12 months after the resection. Results Not applicable. Conclusion DRAGON 1 is a prospective trial to assess the safety and feasibility of PVE/HVE. Participating study centers will be trained, and procedures standardized using Work Instructions (WI) to prepare for the DRAGON 2 randomized controlled trial. Outcomes should reveal the accrual potential of centers, safety profile of combined PVE/HVE and the effect of FLR-hypertrophy induction by PVE/HVE in patients with CRLM and a small FLR.
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