Motile and non-motile (primary) cilia are nearly ubiquitous cellular organelles. The
dysfunction of cilia causes diseases known as ciliopathies. The number of reported …

Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …

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 …

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 …

Genome-wide association studies have greatly improved our understanding of the genetic
basis of disease risk. The fact that they tend not to identify more than a fraction of the specific …

The primary causes of chronic kidney disease (CKD) in children differ from those of CKD in
adults. In the USA the most common diagnostic groups of renal disease that manifest before …

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

Intraflagellar transport (IFT) trains, the polymers composed of two multi-subunit complexes,
IFT-A and IFT-B, carry out bidirectional intracellular transport in cilia, vital for cilia biogenesis …

This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract
(CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied …