Associated Papers
BICC1 Interacts with PKD1 and PKD2 to Drive Cystogenesis in ADPKD.
Tran U et al.
Biorxiv : the Preprint Server for Biology, 2025
Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.
Alzahrani OR et al.
Medicina (kaunas, Lithuania), 2022
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.
Zacchia M et al.
Journal of Nephrology, 2021
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease.
Izarzugaza JMG et al.
Genome Medicine, 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
Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.
Elisakova V et al.
Bmc Nephrology, 2018
Functional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genes.
Edrees BM et al.
Genomics Data, 2016
Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease.
Edrees BM et al.
Gene, 2016
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.
Cornec-Le Gall E et al.
Human Mutation, 2014
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.
Tan AY et al.
The Journal of Molecular Diagnostics : Jmd, 2014
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
Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy.
Losekoot M et al.
Journal of Medical Genetics, 2012
High Resolution Melt analysis for mutation screening in PKD1 and PKD2.
Bataille S et al.
Bmc Nephrology, 2011
Determinants of renal disease variability in ADPKD.
Harris PC et al.
Advances in Chronic Kidney Disease, 2010
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.
Rossetti S et al.
Kidney International, 2009
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