Article

Loss of nephronophthisis-associated nephrocystin-1 impairs DNA damage repair in kidney organoids

2025-06-09

Abstract excerpt

<h4>ABSTRACT</h4> Nephronophthisis (NPH) is a heterogeneous, autosomal recessive ciliopathy and an important cause of end-stage renal disease (ESRD) in children and young adults. Since its classification as ciliopathy in 2003, NPH disease causal attribution had been focused primarily on ciliary dysfunction. The finding that ciliopathy players are involved in the DNA damage response (DDR) signaling resulted in a p...

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Literature Corpus work: 7da63d96-fbac-5f45-9e97-1913dcddd177
DOI: 10.1101/2025.06.09.658557

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