The trafficking dynamics of uromodulin (UMOD), the most abundant protein in human urine, play a critical role in the pathogenesis of kidney disease. Monoallelic mutations in the UMOD gene cause autosomal dominant tubulointerstitial kidney disease (ADTKD-UMOD), an incurable genetic disorder that leads to kidney failure. The disease is caused by the intracellular entrapment of mutant UMOD in kidney epithelial cells, but the precise mechanisms mediating disrupted UMOD trafficking remain elusive.
View Article and Find Full Text PDFThe use of antidepressants is well-documented for several health conditions. The determination of these drugs in biological fluids is often important in intoxication cases. However, appropriate sample preparation needs to be employed, such as dispersive liquid phase microextraction (DSPME).
View Article and Find Full Text PDFBackground: Pathogenic variants in the mismatch repair genes are associated with an elevated lifetime risk of colorectal cancer (CRC). We previously identified two variants of uncertain significance (VUS) in the MLH1 gene, c.696_698del, p.
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