Nephronophthisis

[1]. Carsten Bergmann, et al. Educational paper: ciliopathies. Eur J Pediatr. 2012 Sep;171(9):1285-300. [Content Brief]

[2]. Cecilie Bredrup, et al. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet. 2011 Nov 11;89(5):634-43. [Content Brief]

[3]. E A Otto, et al. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). J Med Genet. 2009 Oct;46(10):663-70. [Content Brief]

[4]. Edgar A Otto, et al. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet. 2010 Oct;42(10):840-50. [Content Brief]

[5]. Edgar A Otto, et al. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet. 2003 Aug;34(4):413-20. [Content Brief]

[6]. Edgar A Otto, et al. NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis. J Am Soc Nephrol. 2008 Mar;19(3):587-92. [Content Brief]

[7]. Edgar A Otto, et al. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet. 2005 Mar;37(3):282-8. [Content Brief]

[8]. Erica E Davis, et al. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 Mar;43(3):189-96. [Content Brief]

[9]. F Hildebrandt, et al. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nat Genet. 1997 Oct;17(2):149-53. [Content Brief]

[10]. F Hildebrandt, et al. New insights: nephronophthisis-medullary cystic kidney disease. Pediatr Nephrol. 2001 Feb;16(2):168-76. [Content Brief]

[11]. Géraldine Mollet, et al. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat Genet. 2002 Oct;32(2):300-5. [Content Brief]

[12]. Heike Olbrich, et al. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet. 2003 Aug;34(4):455-9. [Content Brief]

[13]. John A Sayer, et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet. 2006 Jun;38(6):674-81. [Content Brief]

[14]. John F O'Toole, et al. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J Clin Invest. 2010 Mar;120(3):791-802. [Content Brief]

[15]. Marion Failler, et al. Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. Am J Hum Genet. 2014 Jun 5;94(6):905-14. [Content Brief]

[16]. Markus Schueler, et al. DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. Am J Hum Genet. 2015 Jan 8;96(1):81-92. [Content Brief]

[17]. Massimo Attanasio, et al. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat Genet. 2007 Aug;39(8):1018-24. [Content Brief]

[18]. Matthias T F Wolf, et al. Nephronophthisis. Pediatr Nephrol. 2011 Feb;26(2):181-94. [Content Brief]

[19]. Maxence S Macia, et al. Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. Am J Hum Genet. 2017 Feb 2;100(2):323-333. [Content Brief]

[20]. Moumita Chaki, et al. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell. 2012 Aug 3;150(3):533-48. [Content Brief]

[21]. Sylvia Hoff, et al. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat Genet. 2013 Aug;45(8):951-6. [Content Brief]

[22]. Toby W Hurd, et al. Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype. J Am Soc Nephrol. 2013 May;24(6):967-77. [Content Brief]