Associated Papers
Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.
Tapper EE et al.
Kidney Medicine, 2026
41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S5-_susVUS
Fundamental insights into autosomal dominant polycystic kidney disease from human-based cell models.
Weydert C et al.
Pediatric Nephrology (berlin, Germany), 2019
High Resolution Melt analysis for mutation screening in PKD1 and PKD2.
Bataille S et al.
Bmc Nephrology, 2011
Human ADPKD primary cyst epithelial cells with a novel, single codon deletion in the PKD1 gene exhibit defective ciliary polycystin localization and loss of flow-induced Ca2+ signaling.
Xu C et al.
American Journal of Physiology. Renal Physiology, 2007
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