The cilium is a complex organelle, the assembly of which requires the coordination of motor-
driven intraflagellar transport (IFT), membrane trafficking and selective import of cilium …

Hereditary degenerations of the human retina are genetically heterogeneous, with well over
100 genes implicated so far. This Seminar focuses on the subset of diseases called retinitis …

Ciliopathies comprise a group of disorders associated with genetic mutations encoding
defective proteins, which result in either abnormal formation or function of cilia. As cilia are a …

This paper presents the 12th update of the human obesity gene map, which incorporates
published results up to the end of October 2005. Evidence from single‐gene mutation …

Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a
major cause of incurable vision loss. Tremendous progress has been made over the last two …

Primary cilia are ubiquitous cellular appendages that provide important yet not well
understood sensory and signaling functions. Ciliary dysfunction underlies numerous human …

The identification of mutations in genes that cause human diseases has largely been
accomplished through the use of positional cloning, which relies on linkage mapping. In …

Bardet-Biedl syndrome (BBS) is a human genetic disorder resulting in obesity, retinal
degeneration, polydactyly, and nephropathy. Recent studies indicate that trafficking defects …

The evolutionarily conserved planar cell polarity (PCP) pathway (or noncanonical Wnt
pathway) drives several important cellular processes, including epithelial cell polarization …

Publisher Summary Nephronophthisis (NPHP) is an autosomal recessive cystic kidney
disease that represents the most frequent monogenic cause of end-stage renal disease …