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
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers.
Telis N et al.
Hgg Advances, 2025
Kidney organoid models of polycystic kidney disease: challenges and future directions.
Afrin H et al.
American Journal of Physiology. Renal Physiology, 2025
Characterization of Monogenic Kidney Disease in Older Patients With CKD.
Elhassan EAE et al.
Kidney International Reports, 2025
Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.
Cristalli CP et al.
Genes, 2025
Neonatal Encephalopathy: Novel Phenotypes and Genotypes Identified by Genome Sequencing.
Ambrose A et al.
Neurology. Genetics, 2025
New Variants Identified by Next-Generation Sequencing in Polycystic Kidney Disease Patients.
Ozyavuz Cubuk P et al.
Biochemical Genetics, 2024
Cyclin-dependent kinase 4 drives cystic kidney disease in the absence of mTORC1 signaling activity.
Grahammer F et al.
Kidney International, 2024
Genetic Analysis of Severe Polycystic Liver Disease in Japan.
Mizuno H et al.
Kidney360, 2024
Increased Expression of Orexin-A in Patients Affected by Polycystic Kidney Disease.
Nigro E et al.
International Journal of Molecular Sciences, 2024
Genetics of cystogenesis in base-edited human organoids reveal therapeutic strategies for polycystic kidney disease.
Vishy CE et al.
Cell Stem Cell, 2024
Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease.
Topak A
Laboratory Medicine, 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
Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report.
Graziani L et al.
Genes, 2023
PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease.
Kimura T et al.
Biomolecules, 2023
Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.
Nigro E et al.
Genes, 2023
Clinical genetic diagnostics in Danish autosomal dominant polycystic kidney disease patients reveal possible founder variants.
Nielsen ML et al.
European Journal of Medical Genetics, 2021
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
A no-nonsense approach to hereditary kidney disease.
Tokhmafshan F et al.
Pediatric Nephrology (berlin, Germany), 2020
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.
Mantovani V et al.
Frontiers in Genetics, 2020
TRPP2 dysfunction decreases ATP-evoked calcium, induces cell aggregation and stimulates proliferation in T lymphocytes.
Magistroni R et al.
Bmc Nephrology, 2019
Population data improves variant interpretation in autosomal dominant polycystic kidney disease.
Mallawaarachchi AC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
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
The polycystin complex mediates Wnt/Ca(2+) signalling.
Kim S et al.
Nature Cell Biology, 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
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.
Tan AY et al.
The Journal of Molecular Diagnostics : Jmd, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Polycystin-2 induces a conformational change in polycystin-1.
Oatley P et al.
Biochemistry, 2013
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
A polycystin-2 (TRPP2) dimerization domain essential for the function of heteromeric polycystin complexes.
Giamarchi A et al.
The Embo Journal, 2010
Determinants of renal disease variability in ADPKD.
Harris PC et al.
Advances in Chronic Kidney Disease, 2010
Structural and molecular basis of the assembly of the TRPP2/PKD1 complex.
Yu Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
Autosomal dominant polycystic kidney disease: the last 3 years.
Torres VE et al.
Kidney International, 2009
2008 Homer W. Smith Award: insights into the pathogenesis of polycystic kidney disease from gene discovery.
Harris PC
Journal of the American Society of Nephrology : Jasn, 2009
Domain mapping of the polycystin-2 C-terminal tail using de novo molecular modeling and biophysical analysis.
Celić A et al.
The Journal of Biological Chemistry, 2008
Polycystin-2 down-regulates cell proliferation via promoting PERK-dependent phosphorylation of eIF2alpha.
Liang G et al.
Human Molecular Genetics, 2008
Polycystin-2 is regulated by endoplasmic reticulum-associated degradation.
Liang G et al.
Human Molecular Genetics, 2008
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.
Rossetti S et al.
Journal of the American Society of Nephrology : Jasn, 2007
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
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
Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.
Wu G et al.
Molecular Genetics and Metabolism, 2000
Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease.
Reynolds DM et al.
Journal of the American Society of Nephrology : Jasn, 1999