Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …

Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a
pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable …

INTRODUCTION Variation in pigmentation among human populations may reflect local
adaptation to regional light environments, because dark skin is more photoprotective …

Cilia play many essential roles in fluid transport and cellular locomotion, and as sensory
hubs for a variety of signal transduction pathways. Despite having a conserved basic …

Skin color is highly variable in Africans, yet little is known about the underlying molecular
mechanism. Here we applied massively parallel reporter assays to screen 1,157 candidate …

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 …

Joubert syndrome is a congenital cerebellar ataxia with autosomal recessive or X-linked
inheritance, the diagnostic hallmark of which is a unique cerebellar and brainstem …

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 …

Photoreceptors are sensory neurons designed to convert light stimuli into neurological
responses. This process, called phototransduction, takes place in the outer segments (OS) …

Abstract Joubert syndrome (JS; MIM PS213300) is a rare, typically autosomal recessive
disorder characterized by cerebellar vermis hypoplasia and a distinctive malformation of the …