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
Evaluating gene variations in autosomal dominant polycystic kidney disease patients using whole exome sequencing and phenotype to genotype analysis.
Aypek H et al.
Renal Failure, 2025
Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers.
Telis N et al.
Hgg Advances, 2025
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
The mutual interaction of TRPC5 channel with polycystin proteins.
Kwak M et al.
The Korean Journal of Physiology & Pharmacology : Official Journal of the Korean Physiological Society and the Korean Society of Pharmacology, 2025
New Variants Identified by Next-Generation Sequencing in Polycystic Kidney Disease Patients.
Ozyavuz Cubuk P et al.
Biochemical Genetics, 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
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
Role of PKD2 in the endoplasmic reticulum calcium homeostasis.
Liu X et al.
Frontiers in Physiology, 2022
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
Polycystins as components of large multiprotein complexes of polycystin interactors.
Hardy E et al.
Cellular Signalling, 2020
Comprehensive analysis of mutations of renal cell carcinoma in an autosomal dominant polycystic kidney disease patient.
Shim KE et al.
Medicine, 2020
Identification of novel mutations and risk assessment of Han Chinese patients with autosomal dominant polycystic kidney disease.
Zhang M et al.
Nephrology (carlton, Vic.), 2019
Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease.
Xu D et al.
Kidney & Blood Pressure Research, 2018
Mutational screening of PKD2 gene in the north Indian polycystic kidney disease patients revealed 28 genetic variations.
Raj S et al.
Journal of Genetics, 2017
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Carrera P et al.
Scientific Reports, 2016
High-resolution melt as a screening method in autosomal dominant polycystic kidney disease (ADPKD).
Virzì GM et al.
Journal of Clinical Laboratory Analysis, 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
Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.
Rossetti S et al.
Journal of the American Society of Nephrology : Jasn, 2012
Crystal structure and characterization of coiled-coil domain of the transient receptor potential channel PKD2L1.
Molland KL et al.
Biochimica Et Biophysica Acta, 2012
Structural model of the TRPP2/PKD1 C-terminal coiled-coil complex produced by a combined computational and experimental approach.
Zhu J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
Structural biology of TRP channels.
Li M et al.
Advances in Experimental Medicine and Biology, 2011
Transient receptor potential genes and human inherited disease.
Everett KV
Advances in Experimental Medicine and Biology, 2011
Polycystins and renovascular mechanosensory transduction.
Patel A et al.
Nature Reviews. Nephrology, 2010
A polycystin-2 (TRPP2) dimerization domain essential for the function of heteromeric polycystin complexes.
Giamarchi A et al.
The Embo Journal, 2010
A pathogenic C terminus-truncated polycystin-2 mutant enhances receptor-activated Ca2+ entry via association with TRPC3 and TRPC7.
Miyagi K et al.
The Journal of Biological Chemistry, 2009
Ca2+-dependent conformational changes in a C-terminal cytosolic domain of polycystin-2.
Schumann F et al.
The Journal of Biological Chemistry, 2009
Identification and functional characterization of an N-terminal oligomerization domain for polycystin-2.
Feng S et al.
The Journal of Biological Chemistry, 2008
Mutant polycystin-2 induces proliferation in primary rat tubular epithelial cells in a STAT-1/p21-independent fashion accompanied instead by alterations in expression of p57KIP2 and Cdk2.
Felekkis KN et al.
Bmc Nephrology, 2008
COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century.
Voskarides K et al.
Genetic Testing, 2008
COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy.
Voskarides K et al.
Journal of the American Society of Nephrology : Jasn, 2007
TRPP2 and autosomal dominant polycystic kidney disease.
Köttgen M
Biochimica Et Biophysica Acta, 2007
Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localization of polycystin-2 in vivo and in vitro.
Streets AJ et al.
Human Molecular Genetics, 2006
Polycystin 2 interacts with type I inositol 1,4,5-trisphosphate receptor to modulate intracellular Ca2+ signaling.
Li Y et al.
The Journal of Biological Chemistry, 2005
Polycystins: polymodal receptor/ion-channel cellular sensors.
Delmas P
Pflugers Archiv : European Journal of Physiology, 2005
Regulation of calcium signaling by polycystin-2.
Cantiello HF
American Journal of Physiology. Renal Physiology, 2004
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
Immortalized epithelial cells from human autosomal dominant polycystic kidney cysts.
Loghman-Adham M et al.
American Journal of Physiology. Renal Physiology, 2003