Article
Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation.
Human molecular genetics - 4 May 2022
Schwarz Hannah, Popp Bernt, Airik Rannar, Torabi Nasrin, Knaup Karl X, Stoeckert Johanna, Wiech Thorsten, Amann Kerstin, Reis André, Schiffer Mario, Wiesener Michael S, Schueler Markus
Abstract excerpt
Nephronophthisis-related ciliopathies (NPHP-RC) comprises a group of inherited kidney diseases, caused by mutations in genes encoding proteins localizing to primary cilia. NPHP-RC represents one of the most frequent monogenic causes of renal failure within the first three decades of life, but its molecular disease mechanisms remain unclear. Here, we identified biallelic ANKS6 mutations in two affected siblings...
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