Nephronophthisis: molecular mechanisms, disease models and therapy |
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Recently, kidney researchers have identified several genes, which if mutated, lead to cystic kidneys. The genes encode proteins, some of which are called nephrocystins. These proteins are important for kidney development and normal kidney health. Prior to developing cysts, patients are unable to concentrate their urine. We will investigate how these proteins control water reabsorption. Using molecular techniques and cells where the protein has been knocked out, we will mimic human cystic kidney disease. In these model systems, we will also be able to determine the effects of new drug treatments that are being proposed for cystic kidney disease
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