Ciliopathies are inherited human disorders caused by both motile and non‐motile cilia
dysfunction that form an important and rapidly expanding disease category. Ciliopathies are …

Cilia are plasma membrane protrusions that act as cellular propellers or antennae. To
perform these functions, cilia must maintain a composition distinct from those of the …

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

Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental
delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar …

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 …

Meckel–Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly
syndrome caused by mutations in genes encoding proteins that are structural or functional …

Background Joubert syndrome (JS) is a recessive neurodevelopmental disorder
characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements …

Nephronophthisis (NPHP) is a renal ciliopathy and an autosomal recessive cause of cystic
kidney disease, renal fibrosis, and end-stage renal failure, affecting children and young …

Soon, the genetic basis of most human Mendelian diseases will be solved. The next
challenge will be to leverage this information to uncover basic mechanisms of disease and …