RWTH Aachen University
Mutation Database Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1)
Department of Human Genetics, RWTH Aachen University, Pauwelsstraße 30, D-52074 Aachen, Germany



Publications on Cystic Kidney Disease of our group


  • Cystic kidney diseases
    Zerres K, Ortiz Brüchle N.
    Internist (Berl) 2012 Mar14; (German)
  • 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.
    J Am Soc Nephrol. 2011;22(11):2047-56
  • Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation
    Bergmann C, Brüchle NO, Frank V, Rehder H, Zerres K.
    N Engl J Med. 2008;359(3):318-3
  • Nephrecotmy in an autosomal recessive polycystic kidney disease (ARPKD) patient with rapid kidney enlargement and increased expression of EGFR
    Arbeiter A, Büscher R, Bonzel KE, Wingen AM, Vester U, Wohlschläger J, Zerres K, Nürnberger J, Bergmann C, Hoyer PF.
    Nephrol Dial Transplant. 2008;23(9):3026-9
  • Genomic organization and mutation screening of the human ortholog of PKDR1 asscociated with polycystic kidney disease in the rat
    Kaisaki PJ, Bergmann C, Brown JH, Outeda P, Lens XM, Peters DJ, Gretz N, Gauguier D, Bihoreau MT.
    Eur J Med Genet 2008;51(4):325-331
  • Early manifestations of polycystic kidney disease
    Bergmann C, Zerres K.
    Lancet. 2007 30;369(9580):2157
  • Functional analysis of PKHD1 splicing in autosomal recessice polycystic kidney disease
    Bergmann C, Frank V, Küpper F, Senderek J, Zerres K.
    J Hum Genet. 2006;51(9):788-93
  • Diagnosis, Pathogenesis, and Treatment Prospects in Cystic Kidney Disease
    Carsten Bergmann, Valeska Frank, Fabian Küpper, Dirk Kamitz, Jens Hanten, Peter Berges, Silke Mager, Markus Moser, Jutta Kirfel, Reinhard Büttner, Jan Senderek and Klaus Zerres
    Molecular Diagnosis & Therapy 2006; 10 (3): 163-174
  • Clinical consequences of PKHD1 mutations in 164 patients with autosomal recessive polycystic kidney disease (ARPKD)
    Bergmann C, Senderek J, Windelen E, Küpper F, Middeldorf I, Schneider F, Dornia C, Rudnik-Schöneborn S, Konrad M, Schmitt CP, Seeman T, Neuhaus TJ, Vester U, Kirfel J, Büttner R, Zerres K, and the Arbeitsgemeinschaft für Pädiatrische Nephrologie (APN)
    Kidney Int 67:829-848, 2005
  • New options for prenatal diagnosis in autosomal recessive polycystic kidney disease (ARPKD) by mutation analysis of the PKHD1 gene
    Zerres K, Senderek J, Rudnik-Schöneborn S, Eggermann T, Kunze J, Mononen T, Kääriäinen H, Kirfel J, Moser M, Büttner R, Bergmann C.
    Clin Genet 66:53-57, 2004
  • Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD)
    Bergmann C, Küpper F, Dornia C, Schneider F, Senderek J, Zerres K.
    Hum Mutat 25:225-231, 2005
  • A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)
    Moser M, Matthiesen S, Kirfel J, Schorle H, Bergmann C, Senderek J, Rudnik-Schöneborn S, Zerres K, Büttner R.
    Hepatology 2005 May;41(5):1113-21
  • Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)
    Bergmann C, Küpper F, Schmitt CP, Vester U, Neuhaus TJ, Senderek J, Zerres K
    J Med Genet 2005 October; 42(10): e63
  • PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)
    Bergmann C, Senderek J, Küpper F, Schneider F, Dornia C, Windelen E, Eggermann T, Rudnik-Schöneborn S, Kirfel J, Furu L, Onuchic LF, Rossetti S, Harris PC, Somlo S, Guay-Woodford L, Germino GG, Moser M, Büttner R, Zerres K.
    Hum Mutat 23:453-463, 2004
  • PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)
    Bergmann C, Senderek J, Schneider F, Dornia C, Küpper F, Eggermann T, Rudnik-Schöneborn S, Kirfel J, Moser M, Büttner R, Zerres K.
    Hum Mutat 23:487-495, 2004
  • Milder Presentation of Recessive Polycystic Kidney Disease Requires Presence of Amino Acid Substitution Mutations
    Laszlo Furu, Luiz F. Onuchic, Ali Gharavi, Xiaoying Hou, Ernie L. Esquivel, Yasuyuki Nagasawa, Carsten Bergmann, Jan Senderek, Ellis Avner, Klaus Zerres, Gregory G. Germino, Lisa M. Guay-Woodford, Stefan Somlo
    J Am Soc Nephrol 14:2004-2014, 2003
  • Spectrum of Mutations in the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1)
    Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, Rudnik-Schöneborn S, Furu L, Onuchic LF, De Baca M, Germino GG, Guay-Woodford L, Somlo S, Moser M, Buttner R, Zerres K.
    J Am Soc Nephrol 13: 76­89, 2003
  • Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene
    Nagasawa Y, Matthiesen S, Onuchic LF, Hou X, Bergmann C, Esquivel E, Senderek J, Ren Z, Zeltner R, Furu L, Avner E, Moser M, Somlo S, Guay-Woodford L, Buttner R, Zerres K, Germino GG.
    J Am Soc Nephrol 13: 2246­2258, 2002
  • PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats
    Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Rudnik-Schoneborn S, Mrug M, Sweeney W, Avner ED, Zerres K, Guay-Woodford LM, Somlo S, Germino GG
    Am. J. Hum. Genet. 70:1305­1317, 2002
  • The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
    Ward CJ, Hogan MC, Rossetti S, Walker D, Sneddon T, Wang X, Kubly V, Cunningham JM, Bacallao R, Ishibashi M, Milliner DS, Torres VE, Harris PC.
    Nat Genet 2002;30:259-69
  • Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p
    Hallermann C, Mucher G, Kohlschmidt N, Wellek B, Schumacher R, Bahlmann F, Shahidi-Asl P, Theile U, Rudnik-Schöneborn S, Muntefering H, Zerres K.
    Am J Med Genet 2000;90:115-9

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