Initiation of cyst formation in autosomal dominant polycystic kidney disease (ADPKD) occurs
when kidney tubule cells are rendered null for either PKD1 or PKD2 by somatic 'second …

The major hallmark of Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the
formation of many fluid-filled cysts in the kidneys, which ultimately impairs the normal renal …

Polycystic kidney disease is typified by cysts in the kidney and extra-renal manifestations
including hypertension and heart failure. The main genetic underpinning this disease are …

Massive GGGGCC (G4C2) repeat expansion in C9orf72 and the resulting loss of C9orf72
function are the key features of~ 50% of inherited amyotrophic lateral sclerosis and …

The exponential rise in our understanding of the aetiology and pathophysiology of genetic
cystic kidney diseases can be attributed to the identification of cystogenic genes over the last …

Cilia are microtubule-based organelles, protruding from the apical cell surface and
anchoring to the cytoskeleton. Primary (nonmotile) cilia of the kidney act as …

Background The primary cilium, a microtubule-based cellular organelle present in certain
kidney cells, functions as a mechano-sensor to monitor fluid flow in addition to various other …

Autosomal dominant polycystic kidney disease (ADPKD) is the most common congenital
kidney disorder, generally caused by mutations in the PKD1 and PKD2 genes, coding for …

Background PKD1 or PKD2, the two main causal genes for autosomal dominant polycystic
kidney disease (ADPKD), encode the multipass transmembrane proteins polycystin-1 (PC1) …

The development of the kidney relies on the establishment and maintenance of a precise
tubular diameter of its functional units, the nephrons. This process is disrupted in polycystic …