The presence of single, non-motile “primary” cilia on the surface of epithelial cells has been
well described since the 1960s. However, for decades these organelles were believed to be …

Nephronophthisis (NPH) is an autosomal recessive ciliopathy and a major cause of end-
stage renal disease in children. The main forms, juvenile and adult NPH, are characterized …

The primary cilium is a microtubule-based organelle that functions in sensory and signalling
pathways. Defects in ciliogenesis can lead to a group of genetic syndromes known as …

Ciliopathies are caused by mutations in genes encoding proteins required for cilia
organization or function. We show through colocalization with PCM-1, that OFD1 (the …

Oral-facial-digital syndromes (OFDS) represent a heterogeneous group of rare
developmental disorders affecting the mouth, the face and the digits. Additional signs may …

The OFD1 protein is necessary for the formation of primary cilia and left–right asymmetry
establishment but additional functions have also been ascribed to this multitask protein …

The ciliopathies are a group of related inherited diseases characterized by malformations in
organ development. The diseases affect multiple organ systems, with kidney, skeleton, and …

Structural birth defects in the kidney and urinary tract are observed in 0.5% of live births and
are a major cause of end-stage renal disease, but their genetic aetiology is not well …

Macroautophagy/autophagy is a self-degradative process necessary for cells to maintain
their energy balance during development and in response to nutrient deprivation …

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 …