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| 3. |
- Bravo, L, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 4. |
- Tabiri, S, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 5. |
- Glasbey, JC, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 6. |
- Waszak, S. M., et al.
(författare)
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Germline Elongator mutations in Sonic Hedgehog medulloblastoma
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 580:7803
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Tidskriftsartikel (refereegranskat)abstract
- Cancer genomics has revealed many genes and core molecular processes that contribute to human malignancies, but the genetic and molecular bases of many rare cancers remains unclear. Genetic predisposition accounts for 5 to 10% of cancer diagnoses in children(1,2), and genetic events that cooperate with known somatic driver events are poorly understood. Pathogenic germline variants in established cancer predisposition genes have been recently identified in 5% of patients with the malignant brain tumour medulloblastoma(3). Here, by analysing all protein-coding genes, we identify and replicate rare germline loss-of-function variants across ELP1 in 14% of paediatric patients with the medulloblastoma subgroup Sonic Hedgehog (MBSHH). ELP1 was the most common medulloblastoma predisposition gene and increased the prevalence of genetic predisposition to 40% among paediatric patients with MBSHH. Parent-offspring and pedigree analyses identified two families with a history of paediatric medulloblastoma. ELP1-associated medulloblastomas were restricted to the molecular SHH alpha subtype(4) and characterized by universal biallelic inactivation of ELP1 owing to somatic loss of chromosome arm 9q. Most ELP1-associated medulloblastomas also exhibited somatic alterations in PTCH1, which suggests that germline ELP1 loss-of-function variants predispose individuals to tumour development in combination with constitutive activation of SHH signalling. ELP1 is the largest subunit of the evolutionarily conserved Elongator complex, which catalyses translational elongation through tRNA modifications at the wobble (U-34) position(5,6). Tumours from patients with ELP1-associated MBSHH were characterized by a destabilized Elongator complex, loss of Elongator-dependent tRNA modifications, codon-dependent translational reprogramming, and induction of the unfolded protein response, consistent with loss of protein homeostasis due to Elongator deficiency in model systems(7-9). Thus, genetic predisposition to proteome instability may be a determinant in the pathogenesis of paediatric brain cancers. These results support investigation of the role of protein homeostasis in other cancer types and potential for therapeutic interference.
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| 7. |
- Johnson, Owen A., et al.
(författare)
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A Simultaneous Dual-site Technosignature Search Using International LOFAR Stations
- 2023
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Ingår i: Astronomical Journal. - 1538-3881 .- 0004-6256. ; 166:5
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Tidskriftsartikel (refereegranskat)abstract
- The Search for Extraterrestrial Intelligence aims to find evidence of technosignatures, which can point toward the possible existence of technologically advanced extraterrestrial life. Radio signals similar to those engineered on Earth may be transmitted by other civilizations, motivating technosignature searches across the entire radio spectrum. In this endeavor, the low-frequency radio band has remained largely unexplored; with prior radio searches primarily above 1 GHz. In this survey at 110-190 MHz, observations of 1,631,198 targets from TESS and Gaia are reported. Observations took place simultaneously with two international stations (noninterferometric) of the Low Frequency Array in Ireland and Sweden. We can reject the presence of any Doppler drifting narrowband transmissions in the barycentric frame of reference, with equivalent isotropic radiated power of 1017 W, for 0.4 million (or 1.3 million) stellar systems at 110 (or 190) MHz. This work demonstrates the effectiveness of using multisite simultaneous observations for rejecting anthropogenic signals in the search for technosignatures.
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| 8. |
- Wandia, Kelvin, et al.
(författare)
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An interferometric SETI observation of Kepler-111 b
- 2023
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Ingår i: Monthly Notices of the Royal Astronomical Society. - 0035-8711 .- 1365-2966. ; 522:3, s. 3784-3794
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Tidskriftsartikel (refereegranskat)abstract
- The application of very long baseline interferometry (VLBI) to the search for extraterrestrial intelligence (SETI) has been limited to date, despite the technique offering many advantages over traditional single-dish SETI observations. In order to further develop interferometry for SETI, we used the European VLBI network (EVN) at 21 cm to observe potential secondary phase calibrators in the Kepler field. Unfortunately, no secondary calibrators were detected. However, a VLBA primary calibrator in the field, J1926+4441, offset only ∼1.88 arcmin from a nearby exoplanet Kepler-111 b, was correlated with high temporal (0.25 s) and spectral (16384 × 488 Hz channels) resolution. During the analysis of the high-resolution data, we identified a spectral feature that was present in both the auto and cross-correlation data with a central frequency of 1420.424 ± 0.0002 MHz and a width of 0.25 MHz. We demonstrate that the feature in the cross-correlations is an artefact in the data, associated with a significant increase in each telescope's noise figure due to the presence of H I in the beam. This would typically go unnoticed in data correlated with standard spectral resolution. We flag (excluded from the subsequent analysis) these channels and phase rotate the data to the location of Kepler-111 b aided by the Gaia catalogue and search for signals with SNR > 7. At the time of our observations, we detect no transmitters with an equivalent isotropically radiated power ≳4 × 1015 W.
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| 9. |
- Shaikh, Gaushiya A., et al.
(författare)
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Assessing the Suitability of a-SiS Nanosheet as an Anode Material for Multivalent Metal-Ion Batteries
- 2023
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Ingår i: Energy & Fuels. - : American Chemical Society (ACS). - 0887-0624 .- 1520-5029. ; 37:19, s. 15116-15126
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Tidskriftsartikel (refereegranskat)abstract
- The search for suitable two-dimensional (2D) anode materials is crucial to drive the progress of multivalent metal-ion batteries capable of delivering exceptional performance, specifically with very fast charging and discharging rates. In this research, we have unveiled novel insights at the density functional theory level, with the workability of 2D puckered silicon monosulfide (a-SiS) as a probable anode material for multivalent metal-ion batteries using Na, Ca, and Al ions. Exploring the stability aspects of both structural and dynamic levels in the a-SiS nanosheet was estimated through the calculation of cohesive energy and non-imaginary phonon frequencies. The a-SiS nanosheet exhibited negative adsorption energies of -1.45, -0.92, and -2.67 eV for Na, Ca, and Al ions, respectively. Additionally, it was observed that the introduction of mono-, di-, and tri-metal atoms to the surface of the a-SiS nanosheet transformed its semiconducting nature into a metallic phase. Minimal activation energies for the active ion migration of Na (0.066 eV), Ca (0.067 eV), and Al (0.18 eV) on the surface of the a-SiS nanosheet suggest high diffusion and optimal charge/discharge functionality. Furthermore, diminished mean operating voltages of 0.44 V (Na), 0.43 V (Ca), and 0.55 V (Al) were attained and improved the theoretical storage performance of 2046.81 mAh/g (Na), 1643.02 mAh/g (Ca), and 2422.76 mAh/g (Al) for the a-SiS nanosheet. The results of this work suggest that the a-SiS nanosheet has the potential to play a crucial role as a hopeful anode material for the creation of budget-friendly, high-functioning metal-ion batteries using Na, Ca, and Al ions.
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| 10. |
- Shaikh, Gaushiya A., et al.
(författare)
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Prominent Electrode Material for Na-, K-, and Mg-ion Batteries : 2D beta-Sb Monolayer
- 2022
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Ingår i: Energy & Fuels. - : American Chemical Society (ACS). - 0887-0624 .- 1520-5029. ; 36:13, s. 7087-7095
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Tidskriftsartikel (refereegranskat)abstract
- The applicability of a two-dimensional beta-antimonene (beta-Sb) monolayer as a negative electrode material for Na-, K-, and Mg-ion batteries has been conducted through first-principles calculations based on density functional theory (DFT). Our findings propose that the hollow and top sites are the energetically most stable adsorption sites for Na, Mg, and K atoms. The chronological adsorption energy, charge transfer, open-circuit voltage, theoretical storage capacity, and metal-ion diffusion barrier energy are investigated. The semiconducting beta-Sb monolayer can provide inherent benefits for transportation of electrons through it, which can deliver tremendous mobility with lower barrier energies of 0.10 eV for Na, 0.09 eV for K, and 0.15 eV for Mg for the diffusion process. The double layers of beta-Sb can adsorb ions on both sides, which leads, at high concentrations (Na2Sb, K2Sb, and Mg2Sb), to theoretical storage capacities of 440.22, 440.22, and 880.45 mAh/gm for Na, K, and Mg ions, respectively. Besides, the electronic formation of beta-Sb changed the nature from semiconducting to metallic under metal-ion adsorption, which significantly enhanced the performance of metal-ion batteries. With the given advantages, we propose that the beta-Sb monolayer can be viewed as a potential material for negative electrodes in Na-, K-, and Mg-ion batteries.
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