A5022819681- Renal and related cancers
- Genetic and Kidney Cyst Diseases
- Cancer-related gene regulation
- Ion Transport and Channel Regulation
- Magnesium in Health and Disease
- Wnt/β-catenin signaling in development and cancer
- Biomedical Research and Pathophysiology
- Adenosine and Purinergic Signaling
- Extracellular vesicles in disease
- Urological Disorders and Treatments
- Melanoma and MAPK Pathways
- Kidney Stones and Urolithiasis Treatments
- Parathyroid Disorders and Treatments
- Thermoregulation and physiological responses
- Epigenetics and DNA Methylation
Radboud University Nijmegen
2018-2022
Radboud University Medical Center
2018-2022
Radboud Institute for Molecular Life Sciences
2018-2022
National Institutes of Health
2020
Yale University
2020
Harvard University
2020
Rockefeller University
2020
Brigham and Women's Hospital
2020
Federation of American Societies for Experimental Biology
2020
Leiden University Medical Center
2016
TFE -fusion renal cell carcinomas ( RCCs ) are caused by chromosomal translocations that lead to overexpression of the TFEB and TFE3 genes Kauffman et al., 2014 ). The mechanisms leading kidney tumor development remain uncharacterized effective therapies yet be identified. Hence, need model these diseases in an experimental animal system Here, we show kidney-specific transgenic mice, resulted clear cells, multi-layered basement membranes, severe cystic pathology, ultimately papillary with...
Renal tubular cells respond to mechanical stimuli generated by urinary flow regulate the activity and transcript abundance of important genes for ion handling, cellular homeostasis, proper renal development. The primary cilium, a mechanosensory organelle, is postulated this mRNA response. aim study reveal transcriptome changes epithelia in response fluid determine role cilia process. Inner-medullary collecting duct (CD) were subjected either static or physiologically relevant (~0.6 dyn/cm2)....
The PKD1 gene encodes polycystin-1 (PC1), a mechanosensor triggering intracellular responses upon urinary flow sensing in kidney tubular cells. Mutations lead to autosomal dominant polycystic disease (ADPKD). involvement of PC1 renal electrolyte handling remains unknown since physiology ADPKD patients has only been characterized cystic ADPKD. We thus studied the inducible kidney-specific Pkd1 knockout (iKsp- −/− ) mice manifesting precystic phenotype. Serum and determinations indicated that...
Tubular ATP release is regulated by mechanosensation of fluid shear stress (FSS). Polycystin-1/polycystin-2 (PC1/PC2) functions as a mechanosensory complex in the kidney. Extracellular implicated polycystic kidney disease (PKD), where PC1/PC2 dysfunctional. This study aims to provide new insights into signaling under physiological conditions and PKD. Microfluidics, pharmacologic inhibition, loss-of-function approaches were combined assess mouse distal convoluted tubule 15 (mDCT15) cells....
Magnesium (Mg2+) is an important cofactor of many enzymes crucial for life; therefore, maintaining a Mg2+ balance in the body essential. In kidney, distal convoluted tubule (DCT) determines final urinary excretion. The nephron subjected to variable flow, but little known about influence flow on transport. Primary cilia, which are mechanosensory organelles that sense changes expressed tubular epithelial cells. This study aimed elucidate whether facilitates DCT To this end, mouse DCT15 cells,...
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is an inherited disorder characterized by the development of renal cysts, which frequently leads to failure. Hypertension and other cardiovascular symptoms contribute high morbidity mortality disease. ADPKD caused mutations in PKD1 gene or, less frequently, PKD2 gene. The disease onset progression are highly variable between patients, whereby underlying mechanisms not fully elucidated. Recently, a role extracellular vesicles (EVs) has been...