It has been a decade since it was discovered that primary cilia have an essential role in
Hedgehog (Hh) signaling in mammals. This discovery came from screens in the mouse that …

Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …

Eukaryotic cilia and flagella are evolutionarily conserved organelles that protrude from the
cell surface. The unique location and properties of cilia allow them to function in vital …

Cellular organelles provide opportunities to relate biological mechanisms to disease. Here
we use affinity proteomics, genetics and cell biology to interrogate cilia: poorly understood …

Despite the increasing diagnostic rate of genomic sequencing, the genetic basis of more
than 50% of heritable kidney disease remains unresolved. Kidney organoids differentiated …

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

Intraflagellar transport (IFT) relies on the IFT complex and is required for ciliogenesis. The
IFT‐B complex consists of 9–10 stably associated core subunits and six “peripheral” …

Organ development depends on the integration of coordinated long-range communication
between cells. The cerebrospinal fluid composition and flow properties regulate several …

Bardet-Biedl syndrome (BBS) is a defining ciliopathy, notable for extensive allelic and
genetic heterogeneity, almost all of which has been identified through sequencing. Recent …

Defects in the biosynthesis and/or function of primary cilia cause a spectrum of disorders
collectively referred to as ciliopathies. A subset of these disorders is distinguished by …