| 1. |
- Mingardo, E, et al.
(författare)
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A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy
- 2022
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Ingår i: Communications biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 5:1, s. 1203-
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Tidskriftsartikel (refereegranskat)abstract
- Classic bladder exstrophy represents the most severe end of all human congenital anomalies of the kidney and urinary tract and is associated with bladder cancer susceptibility. Previous genetic studies identified one locus to be involved in classic bladder exstrophy, but were limited to a restrict number of cohort. Here we show the largest classic bladder exstrophy genome-wide association analysis to date where we identify eight genome-wide significant loci, seven of which are novel. In these regions reside ten coding and four non-coding genes. Among the coding genes is EFNA1, strongly expressed in mouse embryonic genital tubercle, urethra, and primitive bladder. Re-sequence of EFNA1 in the investigated classic bladder exstrophy cohort of our study displays an enrichment of rare protein altering variants. We show that all coding genes are expressed and/or significantly regulated in both mouse and human embryonic developmental bladder stages. Furthermore, nine of the coding genes residing in the regions of genome-wide significance are differentially expressed in bladder cancers. Our data suggest genetic drivers for classic bladder exstrophy, as well as a possible role for these drivers to relevant bladder cancer susceptibility.
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| 2. |
- Droese, C., et al.
(författare)
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High-precision Mass Measurements of 203-207Rn and 213Ra with SHIPTRAP
- 2013
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Ingår i: European Physical Journal A. Hadrons and Nuclei. - : Springer Science and Business Media LLC. - 1434-6001. ; 49:1, s. 13-19
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Tidskriftsartikel (refereegranskat)abstract
- The masses of the nuclides Rn203-207 and Ra-213 were measured directly for the first time with the Penning-trap mass spectrometer SHIPTRAP at GSI Darmstadt. The results confirm the previously determined mass values. The mass uncertainties for Rn-205 and Ra-213 were significantly reduced. The results are relevant for the investigation of the nuclear shell structure between N = 82 and N = 126. As an indicator of structural changes the two-neutron separation energies S-2n(Z, N) have been studied.
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| 3. |
- Lorenz, Ch, et al.
(författare)
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Quantum-state-selective decay spectroscopy of 213Ra
- 2017
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Ingår i: Physical Review C. - 2469-9985. ; 96:3
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Tidskriftsartikel (refereegranskat)abstract
- An experimental scheme combining the mass resolving power of a Penning trap with contemporary decay spectroscopy has been established at GSI Darmstadt. The Universal Linear Accelerator (UNILAC) at GSI Darmstadt provided a 48Ca beam impinging on a thin 170Er target foil. Subsequent to velocity filtering of reaction products in the Separator for Heavy Ion reaction Products (SHIP), the nuclear ground state of the 5n evaporation channel 213Ra was mass-selected in SHIPTRAP, and the 213Ra ions were finally transferred into an array of silicon strip detectors surrounded by large composite germanium detectors. Based on comprehensive Geant4 simulations and supported by theoretical calculations, the spectroscopic results call for a revision of the decay path of 213Ra, thereby exemplifying the potential of a combination of a mass-selective Penning trap device with a dedicated nuclear decay station and contemporary Geant4 simulations.
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