Primary cilia are specialized sensory organelles that protrude from the apical surface of most
cell types. Over the past two decades, they have been found to play important roles in tissue …

The presence of single, non-motile “primary” cilia on the surface of epithelial cells has been
well described since the 1960s. However, for decades these organelles were believed to be …

Abstract Development of the forebrain critically depends on the Sonic Hedgehog (Shh)
signaling pathway, as illustrated in humans by the frequent perturbation of this pathway in …

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

Ciliopathies comprise a group of complex disorders, with involvement of the majority of
organs and systems. In total,> 180 causal genes have been identified and, in addition to …

In 2001, the first large animal was successfully treated with a gene therapy that restored its
vision. Lancelot, the Briard dog that was treated, suffered from a human childhood blindness …

A hallmark of meiosis is chromosomal pairing, which requires telomere tethering and
rotation on the nuclear envelope through microtubules, driving chromosome homology …

Cilia are highly specialized cellular organelles that serve multiple functions in human
development and health. Their central importance in the body is demonstrated by the …

Joubert syndrome (JBTS) is a genetically heterogeneous autosomal-recessive
neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of …

The primary cilium is a highly specialized and evolutionary conserved organelle in
eukaryotes that plays a significant role in cell signaling and trafficking. Over the past few …