Article
Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases.
Orphanet journal of rare diseases - 9 Mar 2022
Ziegler Wolfgang H, Lüdiger Sarah, Hassan Fatima, Georgiadis Margarita E, Swolana Kathrin, Khera Amrit, Mertens Arne, Franke Doris, Wohlgemuth Kai, Dahmer-Heath Mareike, König Jens, Dafinger Claudia, Liebau Max C, Cetiner Metin, Bergmann Carsten, Soetje Birga, Haffner Dieter
Abstract excerpt
BACKGROUND: In pediatric hereditary cystic kidney diseases, epithelial cell defects mostly result from rare, autosomal recessively inherited pathogenic variants in genes encoding proteins of the cilia-centrosome complex. Consequences of individual gene variants on epithelial function are often difficult to predict and can furthermore depend on the patient's genetic background. Here, we studied urine-derived renal...
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