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Loss of Glis2 function leads to nephronophthisis. Loss of Glis2 function in humans and mice leads to renal atrophy and interstitial fibrosis, characteristics of nephronophthisis. This involves increased apoptosis of tubular epithelial cells, induction of epithelial-mesenchymal transition, and infiltration of macrophages and lymphocytes that ultimately results in end-stage renal disease.
