Methods Testing was performed on an in-house developed and clinically-validated NGS
targeted panel including 194 genes associated with ADPKD and other inherited cystic …

Mutations in NEK1 in mice are causal for cystic kidneys, and model the ciliopathy polycystic
kidney disease caused by abnormal ciliary structure or signaling. NEK1 has previously been …

Methods The clinical data were collected from both the patient's original hospital of
admission and the referring hospital. The medical history, physical examination findings …

Background: Ciliopathies are rare diseases causing renal and extrarenal manifestations.
Here, we report the case of a ciliopathy induced by a homozygous pathogenic variant in the …

Background: We reported on 235 individuals with typical, mild or atypical PKD from an
unselected cohort of 174,172 individuals with exome sequencing. Variants in 11 known …

Background: Renal ciliopathies are among the commonest genetic causes of endstage
renal disease (ESRD). Ciliopathies are caused by defects of the primary cilium, an antenna …

Nephronophthisis comprises a clinically and genetically heterogenous group of autosomal
recessive inherited tubulointerstitial cystic disorders. It represents the most frequent genetic …

Background: Ciliogenesis-associated kinase 1 (CILK1), also known as intestinal cell kinase
(ICK), is localized in the basal bodies of cilia and regulates ciliary transport. Mutations in the …

Renal cystic diseases are the major group of inherited renal disorders in humans and a
leading cause of end-stage renal disease. Dominant and recessive polycystic kidney …

Background: the KCNJ16 gene has been associated with a novel kidney tubulopathy
phenotype, viz. disturbed acid-base homeostasis, hypokalemia and altered renal salt …