In vertebrate vision, photons are detected by highly specialized sensory cilia called outer
segments. Photoreceptor outer segments form by remodeling the membrane of a primary …

Complex inflammatory signalling cascades define the response to tissue injury but also
control development and homeostasis, limiting the potential for these pathways to be …

Nephronophthisis (NPH) is the most prevalent monogenetic disorder leading to end-stage
renal failure (ESRD) in childhood. Mutations in Nphp1, encoding a cilia-localized protein …

The base of the cilium comprising the transition zone (TZ) and transition fibers (TF) acts as a
selecting gate to regulate the intraflagellar transport (IFT)-dependent trafficking of proteins to …

Null mutations in the human IQCB1/NPHP5 (nephrocystin-5) gene that encodes NPHP5 are
the most frequent cause of Senior-Løken syndrome, a ciliopathy that is characterized by …

Purpose Senior-Loken syndrome (SLSN) is an autosomal recessive disorder characterized
by retinopathy and nephronophthisis. This study aimed to evaluate whether different …

Comprehensive detailed characterization of new mouse models can be challenging due to
the individual focus involved in developing these models. Often models are engineered to …

Intraflagellar transport (IFT) particles are composed of polyprotein complexes IFT-A and IFT-
B as well as cargo adaptors such as the BBSome. Two IFT-B subunits, IFT25 and IFT27 …

CRISPR/Cas9-mediated gene editing allows manipulation of a gene of interest in its own
chromosomal context. When applied to the analysis of protein interactions and in contrast to …

The transition zone (TZ) is a domain at the base of the cilium that is involved in maintaining
ciliary compartment-specific sensory and signaling activity by regulating cilia protein …