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- 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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- Chellaï, O., et al.
(författare)
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Millimeter-wave beam scattering and induced broadening by plasma turbulence in the TCV tokamak
- 2021
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Ingår i: Nuclear Fusion. - : IOP Publishing. - 1741-4326 .- 0029-5515. ; 61:6
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Tidskriftsartikel (refereegranskat)abstract
- The scattering of millimeter-wave beams from electron density fluctuations and the associated beam broadening are experimentally demonstrated. Using a dedicated setup, instantaneous deflection and (de-)focusing of the beam due to density blobs on the beam path are shown to agree with full-wave simulations. The detected time-averaged wave power transmitted through the turbulent plasma is reproduced by the radiative-transfer model implemented in the WKBeam code, which predicts a ∼50% turbulence-induced broadening of the beam cross-section. The role of core turbulence for the considered geometry is highlighted.
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- Davidsson, Bjorn J. R., et al.
(författare)
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CO2-driven surface changes in the Hapi region on Comet 67P/Churyumov-Gerasimenko
- 2022
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Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press. - 0035-8711 .- 1365-2966. ; 516:4, s. 6009-6040
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Tidskriftsartikel (refereegranskat)abstract
- Between 2014 December 31 and 2015 March 17, the OSIRIS cameras on Rosetta documented the growth of a 140 -m wide and 0.5 -m deep depression in the Hapi region on Comet 67P/Churyumov-Gerasimenko. This shallow pit is one of several that later formed elsewhere on the comet, all in smooth terrain that primarily is the result of airfall of coma particles. We have compiled observations of this region in Hapi by the microwave instrument MIRO on Rosetta, acquired during October and November 2014. We use thermophysical and radiative transfer models in order to reproduce the MIRO observations. This allows us to place constraints on the thermal inertia, diffusivity, chemical composition, stratification, extinction coefficients, and scattering properties of the surface material, and how they evolved during the months prior to pit formation. The results are placed in context through long-term comet nucleus evolution modelling. We propose that (1) MIRO observes signatures that are consistent with a solid-state greenhouse effect in airfall material; (2) CO2 ice is sufficiently close to the surface to have a measurable effect on MIRO antenna temperatures, and likely is responsible for the pit formation in Hapi observed by OSIRIS; (3) the pressure at the CO2 sublimation front is sufficiently strong to expel dust and water ice outwards, and to compress comet material inwards, thereby causing the near-surface compaction observed by CONSERT, SESAME, and groundbased radar, manifested as the 'consolidated terrain' texture observed by OSIRIS.
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