| 1. |
- Jin, S. C., et al.
(författare)
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Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
- 2020
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 52:10
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Tidskriftsartikel (refereegranskat)abstract
- Whole-exome sequencing of 250 parent-offspring trios identifies an enrichment of rare damaging de novo mutations in individuals with cerebral palsy and implicates genetically mediated dysregulation of early neuronal connectivity in the etiology of this disorder. In addition to commonly associated environmental factors, genomic factors may cause cerebral palsy. We performed whole-exome sequencing of 250 parent-offspring trios, and observed enrichment of damaging de novo mutations in cerebral palsy cases. Eight genes had multiple damaging de novo mutations; of these, two (TUBA1AandCTNNB1) met genome-wide significance. We identified two novel monogenic etiologies,FBXO31andRHOB, and showed that theRHOBmutation enhances active-state Rho effector binding while theFBXO31mutation diminishes cyclin D levels. Candidate cerebral palsy risk genes overlapped with neurodevelopmental disorder genes. Network analyses identified enrichment of Rho GTPase, extracellular matrix, focal adhesion and cytoskeleton pathways. Cerebral palsy risk genes in enriched pathways were shown to regulate neuromotor function in aDrosophilareverse genetics screen. We estimate that 14% of cases could be attributed to an excess of damaging de novo or recessive variants. These findings provide evidence for genetically mediated dysregulation of early neuronal connectivity in cerebral palsy.
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| 2. |
- Milillo, A., et al.
(författare)
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Investigating Mercury's Environment with the Two-Spacecraft BepiColombo Mission
- 2020
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Ingår i: Space Science Reviews. - : Springer Science and Business Media LLC. - 0038-6308 .- 1572-9672. ; 216:5
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Forskningsöversikt (refereegranskat)abstract
- The ESA-JAXA BepiColombo mission will provide simultaneous measurements from two spacecraft, offering an unprecedented opportunity to investigate magnetospheric and exospheric dynamics at Mercury as well as their interactions with the solar wind, radiation, and interplanetary dust. Many scientific instruments onboard the two spacecraft will be completely, or partially devoted to study the near-space environment of Mercury as well as the complex processes that govern it. Many issues remain unsolved even after the MESSENGER mission that ended in 2015. The specific orbits of the two spacecraft, MPO and Mio, and the comprehensive scientific payload allow a wider range of scientific questions to be addressed than those that could be achieved by the individual instruments acting alone, or by previous missions. These joint observations are of key importance because many phenomena in Mercury's environment are highly temporally and spatially variable. Examples of possible coordinated observations are described in this article, analysing the required geometrical conditions, pointing, resolutions and operation timing of different BepiColombo instruments sensors.
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| 3. |
- Orsini, S., et al.
(författare)
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Inner southern magnetosphere observation of Mercury via SERENA ion sensors in BepiColombo mission
- 2022
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Ingår i: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 13:1
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Tidskriftsartikel (refereegranskat)abstract
- Mercury’s southern inner magnetosphere is an unexplored region as it was not observed by earlier space missions. In October 2021, BepiColombo mission has passed through this region during its first Mercury flyby. Here, we describe the observations of SERENA ion sensors nearby and inside Mercury’s magnetosphere. An intermittent high-energy signal, possibly due to an interplanetary magnetic flux rope, has been observed downstream Mercury, together with low energy solar wind. Low energy ions, possibly due to satellite outgassing, were detected outside the magnetosphere. The dayside magnetopause and bow-shock crossing were much closer to the planet than expected, signature of a highly eroded magnetosphere. Different ion populations have been observed inside the magnetosphere, like low latitude boundary layer at magnetopause inbound and partial ring current at dawn close to the planet. These observations are important for understanding the weak magnetosphere behavior so close to the Sun, revealing details never reached before.
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| 4. |
- Tavakol, M, et al.
(författare)
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Diagnostic Approach to the Patients with Suspected Primary Immunodeficiency
- 2020
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Ingår i: Endocrine, metabolic & immune disorders drug targets. - : Bentham Science Publishers Ltd.. - 2212-3873 .- 1871-5303. ; 20:2, s. 157-171
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Tidskriftsartikel (refereegranskat)abstract
- Primary immunodeficiency diseases (PIDs) are a group of more than 350 disorders affecting distinct components of the innate and adaptive immune systems. In this review, the classic and advanced stepwise approach towards the diagnosis of PIDs are simplified and explained in detail.Results:Susceptibility to recurrent infections is the main hallmark of almost all PIDs. However, noninfectious complications attributable to immune dysregulation presenting with lymphoproliferative and/or autoimmune disorders are not uncommon. Moreover, PIDs could be associated with misleading presentations including allergic manifestations, enteropathies, and malignancies.Conclusion:Timely diagnosis is the most essential element in improving outcome and reducing the morbidity and mortality in PIDs. This wouldn’t be possible unless the physicians keep the diagnosis of PID in mind and be sufficiently aware of the approach to these patients.
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| 5. |
- Aizawa, S., et al.
(författare)
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Cross-comparison of global simulation models applied to Mercury's dayside magnetosphere
- 2021
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Ingår i: Planetary and Space Science. - : Elsevier. - 0032-0633 .- 1873-5088. ; 198
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Tidskriftsartikel (refereegranskat)abstract
- We present the first comparison of multiple global simulations of the solar wind interaction with Mercury's dayside magnetosphere, conducted in the framework of the international collaborative project SHOTS - Studies on Hermean magnetosphere Oriented Theories and Simulations. Two 3D magnetohydrodynamic and two 3D hybrid simulation codes are used to investigate the global response of the Hermean magnetosphere without its exosphere to a northward-oriented interplanetary magnetic field. We cross-compare the results of the four codes for a theoretical case and a MESSENGER orbit with similar upstream plasma conditions. The models agree on bowshock and magnetopause locations at 2.1 ± 0.11 and 1.4 ± 0.1 Mercury planetary radii, respectively. The latter locations may be influenced by subtle differences in the treatment of the plasma boundary at the planetary surface. The predicted magnetosheath thickness varies less between the codes. Finally, we also sample the plasma data along virtual trajectories of BepiColombo's Magnetospheric and Planetary Orbiter. Our ability to accurately predict the structure of the Hermean magnetosphere aids the analysis of the onboard plasma measurements of past and future magnetospheric missions.
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| 6. |
- Szalay, J.R., et al.
(författare)
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Oxygen production from dissociation of Europa’s water-ice surface
- 2024
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Ingår i: Nature Astronomy. - : Springer Nature. - 2397-3366. ; 8:5, s. 567-576
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Tidskriftsartikel (refereegranskat)abstract
- Jupiter’s moon Europa has a predominantly water-ice surface that is modified by exposure to its space environment. Charged particles break molecular bonds in surface ice, thus dissociating the water to ultimately produce H2 and O2, which provides a potential oxygenation mechanism for Europa’s subsurface ocean. These species are understood to form Europa’s primary atmospheric constituents. Although remote observations provide important global constraints on Europa’s atmosphere, the molecular O2 abundance has been inferred from atomic O emissions. Europa’s atmospheric composition had never been directly sampled and model-derived oxygen production estimates ranged over several orders of magnitude. Here, we report direct observations of H2+ and O2+ pickup ions from the dissociation of Europa’s water-ice surface and confirm these species are primary atmospheric constituents. In contrast to expectations, we find the H2 neutral atmosphere is dominated by a non-thermal, escaping population. We find 12 ± 6 kg s−1 (2.2 ± 1.2 × 1026 s−1) O2 are produced within Europa’s surface, less than previously thought, with a narrower range to support habitability in Europa’s ocean. This process is found to be Europa’s dominant exogenic surface erosion mechanism over meteoroid bombardment.
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| 7. |
- Farrell, William M., et al.
(författare)
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The dust, atmosphere, and plasma at the moon
- 2024
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Ingår i: Reviews in Mineralogy and Geochemistry, Mineralogical Society of America. - : Walter de Gruyter. - 1529-6466 .- 1943-2666. ; 89, s. 563-609
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Tidskriftsartikel (refereegranskat)
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| 8. |
- Fatemi, Shahab, et al.
(författare)
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Hybrid Simulations of Solar Wind Proton Precipitation to the Surface of Mercury
- 2020
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Ingår i: Journal of Geophysical Research - Space Physics. - : American Geophysical Union (AGU). - 2169-9380 .- 2169-9402. ; 125:4
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Tidskriftsartikel (refereegranskat)abstract
- We examine the effects of the interplanetary magnetic field (IMF) orientation and solar wind dynamic pressure on the solar wind proton precipitation to the surface of Mercury using a hybrid-kinetic model. We use our model to explain observations of Mercury's neutral sodium exosphere and compare our results with MESSENGER observations. For the typical solar wind dynamic pressure at Mercury our model shows a high proton flux precipitates through the magnetospheric cusps to the high latitudes on both hemispheres on the dayside, centered near the noon meridian with ∼11° latitudinal extent in the north and ∼21° latitudinal extent in the south, which is consistent with MESSENGER observations. We show that this two-peak pattern is controlled by the radial component (Bx) of the IMF and not the Bz. Our model suggests that the southward IMF and its associated magnetic reconnection do not play a major role in controlling plasma precipitation to the surface of Mercury through the cusps. We found that the total precipitation rate through both of the cusps remain constant and independent of the IMF orientation. We also show that the solar wind proton incidence rate to the entire surface of Mercury is higher when the IMF has a northward component and nearly half of the incidence flux impacts the low latitudes on the nightside. During extreme solar events (e.g., coronal mass ejections), our model suggests that over 70 nPa solar wind dynamic pressure is required for the entire surface of Mercury to be exposed to the solar wind plasma.
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| 9. |
- Fatemi, S., et al.
(författare)
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Unveiling the 3D structure of magnetosheath jets
- 2024
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Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 531:4, s. 4692-4713
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Tidskriftsartikel (refereegranskat)abstract
- Magnetosheath jets represent localized enhancements in dynamic pressure observed within the magnetosheath. These energetic entities, carrying excess energy and momentum, can impact the magnetopause and disrupt the magnetosphere. Therefore, they play a vital role in coupling the solar wind and terrestrial magnetosphere. However, our understanding of the morphology and formation of these complex, transient events remains incomplete over two decades after their initial observation. Previous studies have relied on oversimplified assumptions, considering jets as elongated cylinders with dimensions ranging from $0.1\, R_{\rm E}$ to $5\, R_{\rm E}$ (Earth radii). In this study, we present simulation results obtained from Amitis, a high-performance hybrid-kinetic plasma framework (particle ions and fluid electrons) running in parallel on graphics processing units (GPUs) for fast and more environmentally friendly computation compared to CPU-based models. Considering realistic scales, we present the first global, three-dimensional (3D in both configuration and velocity spaces) hybrid-kinetic simulation results of the interaction between solar wind plasma and the Earth. Our high-resolution kinetic simulations reveal the 3D structure of magnetosheath jets, showing that jets are far from being simple cylinders. Instead, they exhibit intricate and highly interconnected structures with dynamic 3D characteristics. As they move through the magnetosheath, they wrinkle, fold, merge, and split in complex ways before a subset reaches the magnetopause.
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| 10. |
- Fatemi, V., et al.
(författare)
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Microwave Susceptibility Observation of Interacting Many-Body Andreev States
- 2022
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Ingår i: Physical Review Letters. - 1079-7114 .- 0031-9007. ; 129:22
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Tidskriftsartikel (refereegranskat)abstract
- Electrostatic charging affects the many-body spectrum of Andreev states, yet its influence on their microwave properties has not been elucidated. We developed a circuit quantum electrodynamics probe that, in addition to transition spectroscopy, measures the microwave susceptibility of different states of a semiconductor nanowire weak link with a single dominant (spin-degenerate) Andreev level. We found that the microwave susceptibility does not exhibit a particle-hole symmetry, which we qualitatively explain as an influence of Coulomb interaction. Moreover, our state-selective measurement reveals a large, ?-phase shifted contribution to the response common to all many-body states which can be interpreted as arising from a phase-dependent continuum in the superconducting density of states.
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