Associated Papers
Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report.
Graziani L et al.
Genes, 2023
The diverse effects of pathogenic point mutations on ion channel activity of a gain-of-function polycystin-2.
Wang Y et al.
The Journal of Biological Chemistry, 2023
Polycystic Kidney Disease Caused by Bilineal Inheritance of Truncating PKD1 as Well as PKD2 Mutations.
Losekoot M et al.
Kidney International Reports, 2020
Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.
Elisakova V et al.
Bmc Nephrology, 2018
Extracellular Loops Are Essential for the Assembly and Function of Polycystin Receptor-Ion Channel Complexes.
Salehi-Najafabadi Z et al.
The Journal of Biological Chemistry, 2017
Structure of the polycystic kidney disease TRP channel Polycystin-2 (PC2).
Grieben M et al.
Nature Structural & Molecular Biology, 2017
Function and regulation of TRPP2 ion channel revealed by a gain-of-function mutant.
Arif Pavel M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease.
Stekrová J et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2004
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