Associated Papers
Cholesterol ensures ciliary polycystin-2 localization to prevent polycystic kidney disease.
Itabashi T et al.
Life Science Alliance, 2025
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
Ciliary exclusion of Polycystin-2 promotes kidney cystogenesis in an autosomal dominant polycystic kidney disease model.
Walker RV et al.
Nature Communications, 2019
Structure of the human PKD1-PKD2 complex.
Su Q et al.
Science (new York, N.y.), 2018
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
Three exonic mutations in polycystic kidney disease-2 gene (PKD2) alter splicing of its pre-mRNA in a minigene system.
Gonzalez-Paredes FJ et al.
Gene, 2016
Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner.
Gainullin VG et al.
The Journal of Clinical Investigation, 2015
Transient receptor potential genes and human inherited disease.
Everett KV
Advances in Experimental Medicine and Biology, 2011
Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.
Magistroni R et al.
Journal of the American Society of Nephrology : Jasn, 2003
Mutations of the human polycystic kidney disease 2 (PKD2) gene.
Deltas CC
Human Mutation, 2001
Location of mutations within the PKD2 gene influences clinical outcome.
Hateboer N et al.
Kidney International, 2000
Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.
Wu G et al.
Molecular Genetics and Metabolism, 2000
Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.
Torra R et al.
Kidney International, 1999
A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds.
Pei Y et al.
Journal of the American Society of Nephrology : Jasn, 1998
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).
Veldhuisen B et al.
American Journal of Human Genetics, 1997
[Mutational analysis of the PKD1 and PKD2 (type 1 and 2 dominant autosomal polycystic kidney) genes].
Torra R et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0