Primary cilia are specialized microtubule‐based signaling organelles that convey
extracellular signals into a cellular response in most vertebrate cell types. The physiological …

Lens opacities, or cataract (s), may be inherited as a classic Mendelian disorder usually with
early-onset or, more commonly, acquired with age as a multi-factorial or complex trait. Many …

The primary cilium is required for Sonic hedgehog (Shh) signaling in vertebrates. In contrast
to mutants affecting ciliary assembly, mutations in the intraflagellar transport complex A (IFT …

The number of mouse mutants and strains with neural tube defects (NTDs) now exceeds
240, including 205 representing specific genes, 30 for unidentified genes, and 9 …

The Hedgehog signalling pathway plays a fundamental role in orchestrating normal
craniofacial development in vertebrates. In particular, Sonic hedgehog (Shh) is produced in …

Primary cilia are immotile appendages that have evolved to receive and interpret a variety of
different extracellular cues. Cilia play crucial roles in intercellular communication during …

Abstract The Hedgehog (Hh) pathway has become an important model to study the cell
biology of primary cilia, and reciprocally, the study of ciliary processes provides an …

Dynamic changes in membrane protein composition of the primary cilium are central to
development and homeostasis, but we know little about mechanisms regulating membrane …

Human ciliopathies, including Joubert syndrome (JBTS), arise from cilia dysfunction. The
inositol polyphosphate 5-phosphatase INPP5E localizes to cilia and is mutated in JBTS …

Tissue fusion events during embryonic development are crucial for the correct formation and
function of many organs and tissues, including the heart, neural tube, eyes, face and body …