The primary cilium is a hair-like surface-exposed organelle of the eukaryotic cell that
decodes a variety of signals—such as odorants, light and Hedgehog morphogens—by …

The primary cilium has recently stepped into the spotlight, as a flood of data show that this
organelle has crucial roles in vertebrate development and human genetic diseases. Cilia …

Ciliopathies comprise a group of disorders associated with genetic mutations encoding
defective proteins, which result in either abnormal formation or function of cilia. As cilia are a …

The Wnt family of secreted ligands act through many receptors to stimulate distinct
intracellular signalling pathways in embryonic development, in adults and in disease …

Growth factor signaling is required for cellular differentiation, tissue morphogenesis, and
tissue homeostasis. Misregulation of intracellular signal transduction can lead to …

Planar polarity describes the coordinated polarisation of cells or structures in the plane of a
tissue. The patterning mechanisms that underlie planar polarity are well characterised in …

Defects in the function of cellular organelles such as peroxisomes, lysosomes and
mitochondria are well-known causes of human diseases. Recently, another organelle has …

Cilia are membrane-bounded, centriole-derived projections from the cell surface that contain
a microtubule cytoskeleton, the ciliary axoneme, surrounded by a ciliary membrane …

Summary Nephronophthisis (NPHP), Joubert (JBTS), and Meckel-Gruber (MKS) syndromes
are autosomal-recessive ciliopathies presenting with cystic kidneys, retinal degeneration …

A number of inherited disorders result in renal cyst development. The most common form,
autosomal dominant polycystic kidney disease (ADPKD), is a disorder most often diagnosed …