The presence of single, non-motile “primary” cilia on the surface of epithelial cells has been
well described since the 1960s. However, for decades these organelles were believed to be …

The primary cilium, a sensory appendage that is present in most mammalian cells, plays
critical roles in signaling pathways and cell cycle progression. Mutations that affect the …

Essential to development, primary cilia are microtubule-based cellular organelles that
protrude from the surface of cells. Acting as cellular antenna, primary cilia play central roles …

Ciliopathies comprise a group of complex disorders, with involvement of the majority of
organs and systems. In total,> 180 causal genes have been identified and, in addition to …

Upwards of 90% of individuals with Bardet-Biedl syndrome (BBS) display rod-cone
dystrophy with early macular involvement. BBS is an autosomal recessive, genetically …

Random autosomal monoallelic gene expression refers to the transcription of a gene from
one of two homologous alleles. We assessed the dynamics of monoallelic expression during …

Gene discovery using massively parallel sequencing has focused on phenotypes diagnosed
postnatally such as well‐characterized syndromes or intellectual disability, but is rarely …

Ciliogenesis is generally inhibited in dividing cells, however, it has been unclear which
signaling cascades regulate the phenomenon. Here, we report that epidermal growth factor …

The ciliopathies are a group of related inherited diseases characterized by malformations in
organ development. The diseases affect multiple organ systems, with kidney, skeleton, and …

The global prevalence rate for congenital hydrocephalus (CH) is approximately one out of
every five hundred births with multifaceted predisposing factors at play. Genetic influences …