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The nephronophthisis complex: clinical and genetic aspects.
Hildebrandt F, Waldherr R, Kutt R, Brandis M. Hildebrandt F, et al. Clin Investig. 1992 Sep;70(9):802-8. doi: 10.1007/BF00180751. Clin Investig. 1992. PMID: 1450635 Review.
A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.
Antignac C, Arduy CH, Beckmann JS, Benessy F, Gros F, Medhioub M, Hildebrandt F, Dufier JL, Kleinknecht C, Broyer M, et al. Antignac C, et al. Among authors: hildebrandt f. Nat Genet. 1993 Apr;3(4):342-5. doi: 10.1038/ng0493-342. Nat Genet. 1993. PMID: 7981755
The gene for human fibronectin glomerulopathy maps to 1q32, in the region of the regulation of complement activation gene cluster.
Vollmer M, Jung M, Rüschendorf F, Ruf R, Wienker T, Reis A, Krapf R, Hildebrandt F. Vollmer M, et al. Among authors: hildebrandt f. Am J Hum Genet. 1998 Dec;63(6):1724-31. doi: 10.1086/302162. Am J Hum Genet. 1998. PMID: 9837825 Free PMC article.
Nephronophthisis.
Wolf MT, Hildebrandt F. Wolf MT, et al. Among authors: hildebrandt f. Pediatr Nephrol. 2011 Feb;26(2):181-94. doi: 10.1007/s00467-010-1585-z. Epub 2010 Jul 22. Pediatr Nephrol. 2011. PMID: 20652329 Free PMC article. Review.
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
Hoff S, Halbritter J, Epting D, Frank V, Nguyen TM, van Reeuwijk J, Boehlke C, Schell C, Yasunaga T, Helmstädter M, Mergen M, Filhol E, Boldt K, Horn N, Ueffing M, Otto EA, Eisenberger T, Elting MW, van Wijk JA, Bockenhauer D, Sebire NJ, Rittig S, Vyberg M, Ring T, Pohl M, Pape L, Neuhaus TJ, Elshakhs NA, Koon SJ, Harris PC, Grahammer F, Huber TB, Kuehn EW, Kramer-Zucker A, Bolz HJ, Roepman R, Saunier S, Walz G, Hildebrandt F, Bergmann C, Lienkamp SS. Hoff S, et al. Among authors: hildebrandt f. Nat Genet. 2013 Aug;45(8):951-6. doi: 10.1038/ng.2681. Epub 2013 Jun 23. Nat Genet. 2013. PMID: 23793029 Free PMC article.
Genetic and physical interaction between the NPHP5 and NPHP6 gene products.
Schäfer T, Pütz M, Lienkamp S, Ganner A, Bergbreiter A, Ramachandran H, Gieloff V, Gerner M, Mattonet C, Czarnecki PG, Sayer JA, Otto EA, Hildebrandt F, Kramer-Zucker A, Walz G. Schäfer T, et al. Among authors: hildebrandt f. Hum Mol Genet. 2008 Dec 1;17(23):3655-62. doi: 10.1093/hmg/ddn260. Epub 2008 Aug 23. Hum Mol Genet. 2008. PMID: 18723859 Free PMC article.
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H. Olbrich H, et al. Among authors: hildebrandt f. Nat Genet. 2003 Aug;34(4):455-9. doi: 10.1038/ng1216. Nat Genet. 2003. PMID: 12872122
Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36.
Schuermann MJ, Otto E, Becker A, Saar K, Rüschendorf F, Polak BC, Ala-Mello S, Hoefele J, Wiedensohler A, Haller M, Omran H, Nürnberg P, Hildebrandt F. Schuermann MJ, et al. Among authors: hildebrandt f. Am J Hum Genet. 2002 May;70(5):1240-6. doi: 10.1086/340317. Epub 2002 Mar 27. Am J Hum Genet. 2002. PMID: 11920287 Free PMC article.
The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development.
Hoff S, Epting D, Falk N, Schroda S, Braun DA, Halbritter J, Hildebrandt F, Kramer-Zucker A, Bergmann C, Walz G, Lienkamp SS. Hoff S, et al. Among authors: hildebrandt f. J Biol Chem. 2018 Sep 28;293(39):15243-15255. doi: 10.1074/jbc.RA117.000847. Epub 2018 Aug 15. J Biol Chem. 2018. PMID: 30111592 Free PMC article.
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants.
Molinari E, Decker E, Mabillard H, Tellez J, Srivastava S, Raman S, Wood K, Kempf C, Alkanderi S, Ramsbottom SA, Miles CG, Johnson CA, Hildebrandt F, Bergmann C, Sayer JA. Molinari E, et al. Among authors: hildebrandt f. Eur J Hum Genet. 2018 Dec;26(12):1791-1796. doi: 10.1038/s41431-018-0212-5. Epub 2018 Jul 12. Eur J Hum Genet. 2018. PMID: 30002499 Free PMC article.
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