Background Cilia play an important role in cellular signaling pathways. Defective ciliary
function causes a variety of disorders involve retina, skeleton, liver, kidney or others. Cilia …

Recent studies implicate primary cilium (PC) proteins in the etiologies of various polycystic
kidney diseases (PKD). NIMA-related kinases (NRKs) are conserved serine/threonine …

Mutations in the never-in-mitosis A-related kinase, Nek8, are associated with cystic kidney
disease in both humans and mice, with Nek8 being the NPHP9 gene in the human juvenile …

We studied two brothers who presented in the newborn period with cardiac, renal, and
hepatic anomalies that were initially suggestive of ALGS, although no mutations in JAG1 or …

Development of novel therapies for polycystic kidney disease (PKD) requires assays that
adequately reflect disease biology and are adaptable to high-throughput screening. Here …

The murine autosomal recessive juvenile cystic kidney (jck) mutation results in polycystic
kidney disease. We have identified in jck mice a mutation in Nek8, a novel and highly …

Polycystic kidney disease (PKD) is one of the most common genetic diseases in the world
and is characterized by chronic renal cystic growth and kidney failure in children and adults …

A key feature of the polycystic kidney diseases is aberrant cell proliferation, a consequence
of dysfunctional ciliary signaling. The NIMA-related kinases (Nek) Nek1 and Nek8 carry the …

AIM To evaluate the genetic defects of ciliary genes causing the loss of primary cilium in
autosomal dominant polycystic kidney disease (ADPKD). METHODS We analyzed 191 …

Abstract Autosomal Dominant Polycystic Kidney Disease (ADPKD), characterized by
progressive cyst formation/expansion, results in enlarged kidneys and often end stage …