Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

M Attanasio, NH Uhlenhaut, VH Sousa, JF O'Toole… - Nature …, 2007 - nature.com
Nephronophthisis (NPHP), an autosomal recessive kidney disease, is the most frequent
genetic cause of end-stage renal failure in the first three decades of life. Positional cloning of …

Nephronophthisis-associated ciliopathies

F Hildebrandt, W Zhou - Journal of the American society of …, 2007 - journals.lww.com
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, represents the
most frequent genetic cause of end-stage kidney disease in the first three decades of life …

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

EA Otto, ML Trapp, UT Schultheiss… - Journal of the …, 2008 - journals.lww.com
Nephronophthisis, an autosomal recessive kidney disease, is the most frequent genetic
cause of chronic renal failure in the first 3 decades of life. Causative mutations in 8 genes …

[HTML][HTML] Mutations in MAPKBP1 cause juvenile or late-onset cilia-independent nephronophthisis

MS Macia, J Halbritter, M Delous, C Bredrup… - The American Journal of …, 2017 - cell.com
Nephronophthisis (NPH), an autosomal-recessive tubulointerstitial nephritis, is the most
common cause of hereditary end-stage renal disease in the first three decades of life. Since …

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

S Hoff, J Halbritter, D Epting, V Frank, TMT Nguyen… - Nature …, 2013 - nature.com
Nephronophthisis is an autosomal recessive cystic kidney disease that leads to renal failure
in childhood or adolescence. Most NPHP gene products form molecular networks. Here we …

Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6

M Delous, NE Hellman, HM Gaude… - Human molecular …, 2009 - academic.oup.com
Nephronophthisis (NPH) is an autosomal recessive disorder characterized by renal fibrosis,
tubular basement membrane disruption and corticomedullary cyst formation leading to end …

[HTML][HTML] Many genes—one disease? Genetics of Nephronophthisis (NPHP) and NPHP-associated disorders

S Srivastava, E Molinari, S Raman, JA Sayer - Frontiers in pediatrics, 2018 - frontiersin.org
Nephronophthisis (NPHP) is a renal ciliopathy and an autosomal recessive cause of cystic
kidney disease, renal fibrosis, and end-stage renal failure, affecting children and young …

[HTML][HTML] Renal ciliopathies: sorting out therapeutic approaches for nephronophthisis

MF Stokman, S Saunier, A Benmerah - Frontiers in cell and …, 2021 - frontiersin.org
Nephronophthisis (NPH) is an autosomal recessive ciliopathy and a major cause of end-
stage renal disease in children. The main forms, juvenile and adult NPH, are characterized …

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression

V Frank, S Habbig, MP Bartram… - Human molecular …, 2013 - academic.oup.com
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 …

[HTML][HTML] A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8

JK McCooke, R Appels, RA Barrero, A Ding… - BMC genomics, 2012 - Springer
Background Nephronophthisis (NPHP) as a cause of cystic kidney disease is the most
common genetic cause of progressive renal failure in children and young adults. NPHP is …