Article

CAKUT variants in <i>PRPF8, DYRK2</i> , and <i>CEP78</i> : implications for splicing and ciliogenesis

2025-07-21

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Introduction</h4> Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of chronic kidney disease in children and young adults. Although over 50 monogenic causes have been identified, many remain unresolved. PRPF8 is a core spliceosome component, essential for pre-mRNA splicing, and further localizes to the distal mother centriole to promote ciliogenesis. <h4>Me...

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Literature Corpus work: 184356cd-0f94-5f2e-8ef0-9f3ac33b109d
DOI: 10.1101/2025.07.16.665151

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