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Juvenile nephronophthisis (NPH) is a genetically heterogeneous disorder representing the most frequent inherited cause of chronic renal failure in children. We recently assigned a gene (NPH1) to the 2q13 region which is responsible for approximately 85% of cases. Cloning this region in a yeast artificial chromosome contig revealed the presence of low copy(More)
A utosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is an important childhood nephropathy, occurring in 1 in 20 000 live births. 1 The clinical phenotype is dominated by dilatation of the renal collecting ducts, biliary dysgenesis, and portal tract fibrosis. Affected children often present in utero with enlarged, echogenic kidneys, as well as(More)
Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder. It represents the most frequent genetic cause of end-stage renal disease in the first three decades of life. NPH is characterized by the dysfunction of sensory cilia which explains the complexity of the NPH phenotype. It can be associated with reti-nitis pigmentosa(More)
A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects NEK8/NPHP9 encodes a NIMA (Never-In-Mitosis A) protein essential for cell cycle control. NEK8 is composed of kinase and RCC1 domains, the latter involved in centrosomal localization. It localizes into the nucleus and at the inversin compartment(More)
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