Associated Papers
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.
Giovanella S et al.
Clinical Genetics, 2026
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
Molecular pathology and cystogenic propensity of the ADPKD Taiwan founder variant.
Kimura LF et al.
Jci Insight, 2025
Identification of polycystin 2 missense mutants targeted for endoplasmic reticulum-associated degradation.
Guerriero CJ et al.
American Journal of Physiology. Cell Physiology, 2025
New Variants Identified by Next-Generation Sequencing in Polycystic Kidney Disease Patients.
Ozyavuz Cubuk P et al.
Biochemical Genetics, 2024
Genetic Analysis of Severe Polycystic Liver Disease in Japan.
Mizuno H et al.
Kidney360, 2024
The Case | Asymmetric kidney cysts in a patient with negative family history.
Mohib O et al.
Kidney International, 2024
Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease.
Yilmaz K et al.
Frontiers in Pediatrics, 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
Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.
Suzuki Y et al.
Genes, 2023
The genetic spectrum of polycystic kidney disease in children.
Kocaaga A et al.
Revista Da Associacao Medica Brasileira (1992), 2023
Comprehensive mutations analyses of FTO (fat mass and obesity-associated gene) and their effects on FTO's substrate binding implicated in obesity.
Kumar R et al.
Frontiers in Nutrition, 2022
Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.
Bekheirnia N et al.
Kidney360, 2021
Myotonic dystrophy type 1 cosegregating with autosomal dominant polycystic kidney disease type 2.
Nicoletti T et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
Structure and function of polycystin channels in primary cilia.
Ta CM et al.
Cellular Signalling, 2020
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.
Schönauer R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.
He WB et al.
Bmc Medical Genetics, 2018
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
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
Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.
Kinoshita M et al.
Plos One, 2016
Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner.
Gainullin VG et al.
The Journal of Clinical Investigation, 2015
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.
Trujillano D et al.
Molecular Genetics & Genomic Medicine, 2014
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
Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.
Robinson C et al.
Bmc Nephrology, 2012
Molecular diagnostics for autosomal dominant polycystic kidney disease.
Harris PC et al.
Nature Reviews. Nephrology, 2010
Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: a potential modifier in autosomal dominant polycystic kidney disease.
Dedoussis GV et al.
European Journal of Clinical Investigation, 2008
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
Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.
Peltola P et al.
Journal of Molecular Medicine (berlin, Germany), 2005