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
Characterization of Monogenic Kidney Disease in Older Patients With CKD.
Elhassan EAE et al.
Kidney International Reports, 2025
Genotype-First Assessment of Presentation and Penetrance of Neurofibromatosis Type 1, Autosomal Dominant Polycystic Kidney Disease, and Marfan Syndrome Within the All of Us Research Program Cohort.
Felker SA et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Identification of polycystin 2 missense mutants targeted for endoplasmic reticulum-associated degradation.
Guerriero CJ et al.
American Journal of Physiology. Cell Physiology, 2025
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
Combining genotype with height-adjusted kidney length predicts rapid progression of ADPKD.
Chen EWC et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024
Polygenic risk alters the penetrance of monogenic kidney disease.
Khan A et al.
Nature Communications, 2023
PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease.
Kimura T et al.
Biomolecules, 2023
Polygenic risk affects the penetrance of monogenic kidney disease.
Khan A et al.
Medrxiv : the Preprint Server for Health Sciences, 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
A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.
Lindemann CH et al.
Kidney International Reports, 2023
A single-center analysis of genotype-phenotype characteristics of Chinese patients with autosomal dominant polycystic kidney disease by targeted exome sequencing.
Yan Z et al.
Frontiers in Genetics, 2022
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
PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis.
Cornec-Le Gall E et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2017
Structure of the polycystic kidney disease TRP channel Polycystin-2 (PC2).
Grieben M et al.
Nature Structural & Molecular Biology, 2017
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
Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany.
Neumann HP et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013
Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease.
Neumann HP et al.
Cerebrovascular Diseases Extra, 2012
Molecular diagnostics for autosomal dominant polycystic kidney disease.
Harris PC et al.
Nature Reviews. Nephrology, 2010
PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning.
Chung W et al.
Clinical Genetics, 2006
Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome.
Woerner AC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease.
Reiterová J et al.
Human Mutation, 2002