Eukaryotic cilia are organelles that project from the surface of cells to fulfill motility and
sensory functions. In vertebrates, the functions of both motile and immotile cilia are critical for …

Primary cilia are generally solitary organelles that emanate from the surface of almost all
vertebrate cell types. Until recently, details regarding the function of these structures were …

A diffusion barrier at the transition zone enables the compartmentalization of signaling
molecules by cilia. The BBSome and the small guanosine triphosphatase Arl6, which …

Cilia, organelles that move to execute functions like fertilization and signal to execute
functions like photoreception and embryonic patterning, are composed of a core of nine-fold …

Nephronophthisis and related syndromes : Current Opinion in Pediatrics Nephronophthisis and
related syndromes : Current Opinion in Pediatrics Log in or Register Subscribe to …

Bardet-Biedl syndrome (BBS) is a defining ciliopathy, notable for extensive allelic and
genetic heterogeneity, almost all of which has been identified through sequencing. Recent …

Inherited retinal degeneration (RD) leads to the impairment or loss of vision in millions of
individuals worldwide, most frequently due to the loss of photoreceptor (PR) cells. Animal …

Mutations in CEP290 are the most common cause of Leber congenital amaurosis (LCA), a
severe inherited retinal degenerative disease for which there is currently no cure. Autosomal …

Distinct mutations in the centrosomal-cilia protein CEP290 lead to diverse clinical findings in
syndromic ciliopathies. We show that CEP290 localizes to the transition zone in ciliated …

Upwards of 90% of individuals with Bardet-Biedl syndrome (BBS) display rod-cone
dystrophy with early macular involvement. BBS is an autosomal recessive, genetically …