The Joubert syndrome (JS), Meckel syndrome (MKS), and nephronophthisis (NPH)
ciliopathy spectrum could be the poster child for advances and challenges in Mendelian …

Focal segmental glomerulosclerosis (FSGS) is not a disease, rather a pattern of histological
injury occurring from a variety of causes. The exact pathogenesis has yet to be fully …

Results In total, 51% of the children presented with isolated nephronophthisis, whereas the
other 49% exhibited related ciliopathies. Monogenetic defects were identified in 97 of 152 …

Results Patients were ages 0.6–36 years old (mean of 9.0±7.6 years old); 41 were female.
Mutations were identified in 19 genes in 92 patients; two thirds of the mutations resided in …

Background The clinical diagnosis of genetic renal diseases may be limited by the
overlapping spectrum of manifestations between diseases or by the advancement of …

The population of the Saguenay‐Lac‐Saint‐Jean (SLSJ) region, located in the province of
Quebec, Canada, is recognized as a founder population, where some rare autosomal …

Renal ciliopathies are a heterogenous group of inherited disorders leading to an array of
phenotypes that include cystic kidney disease and renal interstitial fibrosis leading to …

Overexpression of the Aurora kinase A (AURKA) is oncogenic in many tumors. Many studies
of AURKA have focused on activities of this kinase in mitosis, and elucidated the …

Cilia are microtubule-based organelles, protruding from the apical cell surface and
anchoring to the cytoskeleton. Primary (nonmotile) cilia of the kidney act as …

The primary cilium is found in most mammalian cells and plays a functional role in tissue
homeostasis and organ development by modulating key signaling pathways. Ciliopathies …