Gli proteins are transcriptional effectors of the Hedgehog signaling pathway. They play key
roles in the development of many organs and tissues, and are deregulated in birth defects …

The Joubert syndrome (JS), Meckel syndrome (MKS), and nephronophthisis (NPH)
ciliopathy spectrum could be the poster child for advances and challenges in Mendelian …

Primary cilia are small, antenna-like organelles that detect and transduce chemical and
mechanical cues in the extracellular environment, regulating cell behavior and, in turn …

Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy characterized by a
pathognomonic hindbrain malformation. All known JBTS genes encode proteins involved in …

Primary cilia are antenna‐like organelles required for signalling transduction. How cilia
structure is mechanistically maintained at steady‐state to promote signalling is largely …

The mechanisms of vertebrate Hedgehog signaling are linked to the biology of the primary
cilium, an antenna-like organelle that projects from the surface of most vertebrate cell types …

The GTPase Arl13b participates in ciliary protein transport, but its contribution to
intraflagellar transport (IFT), the main motor-based protein shuttle of cilia, remains largely …

The establishment of pregnancy depends on interactions between the epithelial and stromal
cells of the endometrium that drive the decidual reaction that remodels the stroma and …

Mutations in the channel protein PKD2 cause autosomal dominant polycystic kidney
disease, but the function of PKD2 in cilia remains unclear. Here, we show that PKD2 targets …

Neural development requires a series of cellular events starting with cell specification,
proliferation, and migration. Subsequently, axons and dendrites project from the cell surface …