Urothelial carcinoma (UC) of the upper urinary tract (UUT) is rare, constituting 5% to 10% of UCs, with a higher prevalence in males and older adults. It encompasses various subtypes and, unlike UC of the bladder, often presents as invasive disease. Molecular studies reveal frequent FGFR3 and TP53 mutations, guiding therapeutic strategies.
View Article and Find Full Text PDFDEFENSE NO DEATH 1 (DND1) is a cyclic nucleotide-gated ion channel protein. Earlier, it was shown that the silencing of DND1 in the potato (Solanum tuberosum L.) leads to resistance to late blight, powdery mildew, and gray mold diseases.
View Article and Find Full Text PDFBackground And Purpose: GRIN-related disorders are neurodevelopmental disorders caused by mutations in N-methyl-D-aspartate receptor (NMDAR) subunit genes. A large fraction of these mutations lead to a 'gain of function' (GoF) of the NMDAR. Patients present with a range of symptoms including epilepsy, intellectual disability, behavioural and motor.
View Article and Find Full Text PDFIntroduction: A timely integrated diagnostic and care trajectory for children with a developmental disability may prevent severe problems in later life. In Flanders, Belgium, different types of governmental regulated and subsidised settings offer diagnostic evaluations, as (part of) their mission. However, they operate in a non-coordinated way inducing severe accessibility problems for the public.
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