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_S3-_Positive_SNV___indel
Molecular pathology and cystogenic propensity of the ADPKD Taiwan founder variant.
Kimura LF et al.
Jci Insight, 2025
Differential modulation of polycystin-2 gain-of-function channels by cysteine-reactive compounds, amphiphilic substances, and S4-S5 linker mutations.
Geiges L et al.
The Journal of Biological Chemistry, 2025
Co-evolution of alpha-helical transmembrane protein residues: large-scale variant profiling and complete mutational landscape of 2277 known PDB entries representing 504 unique human protein sequences.
Karagöl T et al.
Journal of Molecular Evolution, 2025
40993375 (PubMed )
Supplement: 239_2025_10262_MOESM3_ESM.xlsx › Sheet1
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
PKD2 gene variants in Chinese patients with autosomal dominant polycystic kidney disease.
Xu D et al.
Clinical Genetics, 2021
Structure and function of polycystin channels in primary cilia.
Ta CM et al.
Cellular Signalling, 2020
Molecular dysregulation of ciliary polycystin-2 channels caused by variants in the TOP domain.
Vien TN et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
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
The Structure of the Polycystic Kidney Disease Channel PKD2 in Lipid Nanodiscs.
Shen PS et al.
Cell, 2016
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