Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal
monogenic disorder. It has large inter-and intra-familial variability explained to a large extent …

Renal cysts are clinically and genetically heterogeneous conditions. Polycystic kidney
disease (PKD) is common and its characterization has paved the way for the identification of …

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations to PKD1 or
PKD2, triggering progressive cystogenesis and typically leading to end-stage renal disease …

Mutations in the polycystin genes, PKD1 or PKD2, results in Autosomal Dominant Polycystic
Kidney Disease (ADPKD). Although a genetic basis of ADPKD is established, we lack a …

To elucidate the molecular pathways that modulate renal cyst growth in ADPKD, we
performed global gene profiling on cysts of different size (< 1 ml, n= 5; 10–20 ml, n= 5;> 50 …

Genome editing tools such as CRISPR/Cas9 enable the rapid and precise manipulation of
genomes. CRISPR-based genome editing has greatly simplified the study of gene function …

It is 20 years since the identification of PKD1, the major gene mutated in autosomal
dominant polycystic kidney disease (ADPKD), followed closely by the cloning of PKD2 …

Autosomal dominant polycystic kidney disease (ADPKD) is a progressive inherited disorder
in which renal tissue is gradually replaced with fluid-filled cysts, giving rise to chronic kidney …

Autosomal dominant polycystic kidney disease (ADPKD) is driven by mutations in PKD1 and
PKD2 genes. Recent work suggests that epigenetic modulation of gene expression and …

Autosomal-dominant polycystic kidney disease (ADPKD) is caused by mutations in either
PKD1 or PKD2 and is characterized by the development of multiple bilateral renal cysts that …