Abstract Background and Aims Polycystic kidney diseases (PKDs) are the most prevalent
inherited kidney disease. They are caused by pathogenic variants in genes encoding for …

Background: NEK8 encodes a protein that localizes to the primary cilium. Biallelic NEK8
variants are known to cause multiorgan developmental defects including renal cystic …

Abstract BACKGROUND AND AIMS NEK8/NPHP9 encodes a protein that localizes to the
primary cilium. Biallelic NEK8 variants are known to cause multiorgan developmental …

Autosomal dominant polycystic kidney disease (ADPKD) resulting from pathogenic variants
in PKD1 and PKD2 is the most common form of PKD, but other genetic causes tied to …

Introduction: Nephronophthisis (NPHP) is a group of autosomal recessive renal diseases
characterized by a reduced ability of the kidneys to concentrate solutes, chronic …

Abstract Background and Aims Autosomal dominant polycystic kidney disease (ADPKD),
commonly caused by pathogenic variants in PKD1 and PKD2 genes, leads to enlarged …

Ciliopathies are a group of genetic multi-systemic disorders related to dysfunction of the
primary cilium, a sensory organelle present at the cell surface that regulates key signaling …

Mutations affecting the integrity and function of cilia have been identified in various genes
over the last decade accounting for a group of diseases called ciliopathies. Ciliopathies …

Background: 9-20% of chronic kidney disease patients have a Mendelian genetic cause.
Mice with biallelic deleterious variants in Nek1 and Nek8, encoding NimA-related …

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by age-dependent
occurrence of bilateral, multiple renal cysts resulting in kidney enlargement in association …