Showing papers by "Jenny Karlsson published in 2016"
TL;DR: It is shown that YWHAE–NUTM2B/E fusion and the BCOR ITD are mutually exclusive events and activated different downstream signaling systems that have important diagnostic implications and opens up for further mechanistic studies of CCSK pathogenesis.
Abstract: Clear cell sarcoma of the kidney (CCSK) is the second most common pediatric renal tumor. Two recurrent genetic aberrations have been described in CCSK. One is a fusion of YWHAE and NUTM2B/E, the other is an internal tandem duplication (ITD) in the BCOR gene. Here it is shown that YWHAE-NUTM2B/E fusion and the BCOR ITD are mutually exclusive events and activated different downstream signaling systems. This has important diagnostic implications and opens up for further mechanistic studies of CCSK pathogenesis.
46 citations
TL;DR: The global methylation profile and the mutational status of 633 specific epigenetic regulators were analyzed in the pediatric tumor clear cell sarcoma of the kidney (CCSK) and a mutation in the key epigenetic regulator EZH2 was discovered in one case.
Abstract: The global methylation profile and the mutational status of 633 specific epigenetic regulators were analyzed in the pediatric tumor clear cell sarcoma of the kidney (CCSK). Methylation array analyses of 30 CCSKs revealed CCSK tumor DNA to be globally hypermethylated compared to Wilms tumor, normal fetal kidney, and adult kidney. The aberrant methylation pattern of CCSKs was associated with activation of genes involved in embryonic processes and with silencing of genes linked to normal kidney function. No epigenetic regulator was recurrently mutated in our cohort, but a mutation in the key epigenetic regulator EZH2 was discovered in one case. EZH2 mRNA was significantly higher in CCSK compared to Wilms tumor and normal kidney, and the EZH2 protein was strongly expressed in more than 90 % of CCSK tumor cells in 9/9 tumors analyzed. This was in striking contrast to the lack of EZH2 protein expression in Wilms tumor stromal elements, indicating that EZH2 could be explored further as a diagnostic marker and a potential drug target for CCSK.
12 citations
TL;DR: A compact sample-scanning confocal optical microscope for detection of single impurities below the surface of a bulk crystal at cryogenic temperatures is described, achieving a spatial resolution of 300 nm and a detection efficiency of 1.6%.
Abstract: A compact sample-scanning confocal optical microscope for detection of single impurities below the surface of a bulk crystal at cryogenic temperatures is described. The sample, lens, and scanners are mounted inside a helium bath cryostat and have a footprint of only 19 × 19 mm. Wide field imaging and confocal imaging using a Blu-ray lens immersed in liquid helium are demonstrated with excitation at 370 nm. A spatial resolution of 300 nm and a detection efficiency of 1.6% were achieved.
9 citations
TL;DR: In this article, a high-resolution spectroscopic investigation of Eu3+-Ce3+ and Pr3+ -Ce-3+ codoped Y2SiO5 crystals was performed.
6 citations
TL;DR: In this paper, a low-drift stabilized laser within the zero phonon line of the 4f-5d transition in Ce3+:Y2SiO5 at 2 K was used for hole burning.
Abstract: We perform hole burning with a low-drift stabilized laser within the zero phonon line of the 4f-5d transition in Ce3+:Y2SiO5 at 2 K. The narrowest spectral holes appear for small applied magnetic fields and are 6±4 MHz wide (FWHM). This puts an upper bound on the homogeneous linewidth of the transition to 3±2 MHz, which is close to lifetime limited. The spin level relaxation time is measured to 72±21 ms with a magnetic field of 10 mT. A slow permanent hole burning mechanism is observed. If the excitation frequency is not changed the fluorescence intensity is reduced by more than 50% after a couple of minutes of continuous excitation. The spectral hole created by the permanent hole burning has a width in the tens of MHz range, which indicates that a trapping mechanism occurs via the 5d state. (Less)
3 citations