Background: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most
frequent genetic cause of chronic renal failure in children and young adults. Mutations in …

Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive
cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia …

Primary cilia have a broad tissue distribution and are present on most cell types in the
human body. Until recently, they were considered to be redundant organelles, but progress …

Eukaryotes contain an elaborate membrane system, which bounds the cell itself, nuclei,
organelles and transient intracellular structures, such as vesicles. The emergence of this …

Primary cilia play a key role in the ability of cells to respond to extracellular stimuli, such as
signaling molecules and environmental cues. These sensory organelles are crucial to the …

Meckel-Gruber syndrome (MKS) is a severe autosomal recessively inherited disorder
caused by mutations in genes that encode components of the primary cilium and basal …

The Hedgehog (Hh) family of secreted proteins regulates mammalian development and
cancer formation through Gli transcription factors, which exist in both activator and repressor …

MKS3, encoding the transmembrane receptor meckelin, is mutated in Meckel–Gruber
syndrome (MKS), an autosomal-recessive ciliopathy. Meckelin localizes to the primary …

Bardet–Biedl Syndrome (BBS) is a rare human hereditary disorder associated with several
features including obesity, retinopathy, renal defects, polydactyly, learning disabilities and …

Meckel syndrome (MKS) is a lethal disorder characterized by renal cystic dysplasia,
encephalocele, polydactyly and biliary dysgenesis. It is highly genetically heterogeneous …