The primary cilium is a conserved microtubule-based organelle that is critical for transducing
developmental, sensory and homeostatic signaling pathways. It comprises an axoneme with …

Abstract Background Inherited retinal degenerations (IRDs) are a group of rare genetic
conditions affecting retina of the eye that range in prevalence from 1 in 2000 to 1 in 4000 …

We sequenced and assembled using multiple long-read sequencing technologies the
genomes of chimpanzee, bonobo, gorilla, orangutan, gibbon, macaque, owl monkey, and …

Context The pituitary gland is key for childhood growth, puberty, and metabolism. Pituitary
dysfunction is associated with a spectrum of phenotypes, from mild to severe. Congenital …

Cystic kidney diseases, when broadly defined, have a wide differential diagnosis extending
from recessive diseases with a prenatal or pediatric diagnosis, to the most common …

Objectives and background Congenital malformations of the kidney and urinary tract
(CAKUT) have a prevalence of 4–60 in 10,000 livebirths and constitute for 40–50% of all …

Ciliary transport in eukaryotic cells is an intricate and conserved process involving the
coordinated assembly and functioning of a multiprotein intraflagellar transport (IFT) complex …

WD40 repeat-containing proteins play a key role in many cellular functions including signal
transduction, protein degradation, and apoptosis. The WD40 domain is highly conserved …

The recent introduction of genome sequencing in genetic analysis has led to the
identification of pathogenic variants located in deep introns. Recently, several new tools …

More and more attention is paid to diseases such as internal transfer and brain malformation
which are caused by the abnormal morphogenesis of cilia. These cilia‐related diseases are …