Detailed structural, biochemical, cell biological, and genetic studies of any gene/protein are
required to develop models of its actions in cells. Studying a protein family in the aggregate …

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

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

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

Intraflagellar transport (IFT) is a highly conserved mechanism for motor-driven transport of
cargo within cilia, but how this cargo is selectively transported to cilia is unclear …

Phosphoinositides (PIs) are phospholipids derived from phosphatidylinositol. PIs are
regulated via reversible phosphorylation, which is directed by the opposing actions of PI …

Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a
characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic …

Primary cilia act as cell surface antennae, coordinating cellular responses to sensory inputs
and signalling molecules that regulate developmental and homeostatic pathways. Cilia are …

Heterotopic ossification (HO), defined as the formation of extraskeletal bone in muscle and
soft tissues, is a diverse pathological process caused by either genetic mutations or inciting …

INTRODUCTION Motile cilia are slender, highly conserved cellular protrusions that move
surrounding fluids. Their whip-like motion enables the swimming movement of many …