Rick Kamps

TL;DR: This review describes the recent technological developments in NGS applied to the field of oncology and a number of clinical applications are reviewed, i.e., mutation detection in inherited cancer syndromes based on DNA- sequencing, detection of spliceogenic variants based on RNA-sequencing, DNA-sequenced to identify risk modifiers and application for pre-implantation genetic diagnosis, cancer somatic mutation analysis, pharmacogenetics and liquid biopsy.

TL;DR: In endometriosis lesions, the balance is tilted in favor of enzymes producing E(2) due to a suppression of types 2 and 4 17 beta-HSD, and an increased expression of aromatase and type 1 17beta-HSS in ectopic endometrium.

TL;DR: Observations emphasise that the regulation of endometrium maturation by oestrogen entails more then just stimulation of cell proliferation, as well as being influenced by the in vivo environment as well.

TL;DR: The data shows that SLC19A3 is a new candidate for mutation screening in patients with Leigh syndrome, who might benefit from high doses of thiamine and/or biotin, and especially, Moroccan patients withLeigh syndrome should be tested for the c.20C>A founder mutation in SLC 19A3.

TL;DR: In this article, the mRNA expression levels of all known vascular endothelial growth factor (VEGF) ligands and receptors in human endometrium collected in the menstrual and proliferative phases of the menstrual cycle were analyzed.