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Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.
Lu H, Galeano MCR, Ott E, Kaeslin G, Kausalya PJ, Kramer C, Ortiz-Brüchle N, Hilger N, Metzis V, Hiersche M, Tay SY, Tunningley R, Vij S, Courtney AD, Whittle B, Wühl E, Vester U, Hartleben B, Neuber S, Frank V, Little MH, Epting D, Papathanasiou P, Perkins AC, Wright GD, Hunziker W, Gee HY, Otto EA, Zerres K, Hildebrandt F, Roy S, Wicking C, Bergmann C. Lu H, et al. Among authors: frank v. Nat Genet. 2017 Jul;49(7):1025-1034. doi: 10.1038/ng.3871. Epub 2017 May 22. Nat Genet. 2017. PMID: 28530676 Free PMC article.
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: frank v. 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.
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.
Bergmann C, von Bothmer J, Ortiz Brüchle N, Venghaus A, Frank V, Fehrenbach H, Hampel T, Pape L, Buske A, Jonsson J, Sarioglu N, Santos A, Ferreira JC, Becker JU, Cremer R, Hoefele J, Benz MR, Weber LT, Buettner R, Zerres K. Bergmann C, et al. Among authors: frank v. J Am Soc Nephrol. 2011 Nov;22(11):2047-56. doi: 10.1681/ASN.2010101080. Epub 2011 Oct 27. J Am Soc Nephrol. 2011. PMID: 22034641 Free PMC article.
Diagnosis, pathogenesis, and treatment prospects in cystic kidney disease.
Bergmann C, Frank V, Küpper F, Kamitz D, Hanten J, Berges P, Mager S, Moser M, Kirfel J, Büttner R, Senderek J, Zerres K. Bergmann C, et al. Among authors: frank v. Mol Diagn Ther. 2006;10(3):163-74. doi: 10.1007/BF03256455. Mol Diagn Ther. 2006. PMID: 16771602 Review.
Clinical utility gene card for: Meckel syndrome - update 2016.
Bergmann C, Frank V, Salonen R. Bergmann C, et al. Among authors: frank v. Eur J Hum Genet. 2016 Aug;24(8). doi: 10.1038/ejhg.2016.33. Epub 2016 Apr 20. Eur J Hum Genet. 2016. PMID: 27094752 Free PMC article. No abstract available.
RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4.
Brüchle NO, Frank J, Frank V, Senderek J, Akar A, Koc E, Rigopoulos D, van Steensel M, Zerres K, Bergmann C. Brüchle NO, et al. Among authors: frank j, frank v. J Invest Dermatol. 2008 Apr;128(4):791-6. doi: 10.1038/sj.jid.5701088. Epub 2007 Oct 4. J Invest Dermatol. 2008. PMID: 17914448 Free article.
122 results