AR Benmerah

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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)
Nephronophtisis (NPH) is a kidney ciliopathy often associated with extra-renal defects and for which 12 genes (NPHP1-12) have been identified. NPHP1 and NPHP4 control the ciliary access at the transition zone and the velocity of some intraflagellar transport (IFT)/BBS proteins in C.elegans. Recently, in a collaborative effort, we have identified, in(More)
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