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The nephronophthisis protein <i>GLIS2</i> / <i>NPHP7</i> is required for the DNA damage response in kidney tubular epithelial cells

2024-11-03

Abstract excerpt

Nephronophthisis (NPH) is an autosomal-recessive cystic kidney disease representing the most frequent genetic cause of end-stage kidney failure in children and adolescents. NPH is caused by genetic variants in >20 NPHP genes. While nearly all NPHP genes encode ciliary proteins, classifying NPH as a renal ciliopathy, there is evidence for a pathogenic role of a compromised DNA damage response (DDR). Here, we presen...

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Literature Corpus work
62aaa83f-3780-5220-8ffc-e4952d94c670
DOI
10.1101/2024.11.02.621644
Open publication

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The nephronophthisis protein <i>GLIS2</i> / <i>NPHP7</i> is required for the DNA damage response in kidney tubular epithelial cellsDOI 10.1101/2024.11.02.621644
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