17 research outputs found
In vitro validation of gamma-secretase inhibitors alone or in combination with other anti-cancer drugs for the treatment of T-cell acute lymphoblastic leukemia
Results of 20- versus 45-min post-infusion scalp cooling time in the prevention of docetaxel-induced alopecia
The HBP1 tumour suppressor is a negative epigenetic regulator of MYCN-driven neuroblastoma through interaction with the PRC2 complex
CRISPR–Cas9-targeted fragmentation and selective sequencing enable massively parallel microsatellite analysis
Cost-Effectiveness of Tisagenlecleucel in Paediatric Acute Lymphoblastic Leukaemia (pALL) and Adult Diffuse Large B-Cell Lymphoma (DLBCL) in Switzerland
Analyse von altersabhängigen Veränderungen der DNA-Methylierung in ausgezupften Haarproben mittels massiver paralleler Sequenzierung
TRICHOTHIODYSTROPHY WITHOUT PHOTOSENSITIVITY - BIOCHEMICAL, ULTRASTRUCTURAL AND DNA-REPAIR STUDIES
A case of trichothiodystrophy (TTD) without photosensitivity is reported in an 8-year-old girl. Electron microscopic (EM) examination of the keratinocytes showed fibrillary bundles in the cytoplasm thinner and less electron dense than those of the normal cells and large membrane-bound vacuoles filled with granular-filamentous material. These findings could indicate a disturbance in the protein metabolism in tissues of ectodermal origin, explaining also the functional abnormalities of the central nervous system in TTD patients. The results of cellular DNA repair studies after UV irradiation in cultured fibroblasts showed normal levels of unscheduled DNA synthesis. This finding indicates that UV hypersensitivity is not constantly present in TTD