Motile and non-motile (primary) cilia are nearly ubiquitous cellular organelles. The
dysfunction of cilia causes diseases known as ciliopathies. The number of reported …

X-linked retinopathies represent a significant proportion of monogenic retinal disease. They
include progressive and stationary conditions, with and without syndromic features. Many …

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 primary cilium is a microtubule-based organelle that functions in sensory and signalling
pathways. Defects in ciliogenesis can lead to a group of genetic syndromes known as …

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

During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …

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 …

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