Molekulare Charakterisierung der autosomal rezessiven polyzystischen Nierenerkrankung (ARPKD)

• Antragsteller: Professor Dr. Klaus Zerres
• Fachliche Zuordnung: Humangenetik
• Förderung: Förderung von 1997 bis 2009
• Projektkennung: Deutsche Forschungsgemeinschaft (DFG) - Projektnummer 5079944

• Erstellungsjahr: 2009

Zusammenfassung der Projektergebnisse

Keine Zusammenfassung vorhanden

Projektbezogene Publikationen (Auswahl)

• Clinical consequences of PKHDI mutations in 164 patients with autosomal recessive polycystic kidney disease (ARPKD). Kidney Int 67:829-848
  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
  
• Autosomal recessive polycystic kidney disease (ARPKD). J Nephrol 16:453-8, 2003
  Zerres K, Rudnik-Schöneborn S, Senderek J, Eggermann T, Bergmann C
  
• Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. J Am Soc Nephrol 14:2004-2014, 2003
  Furu L, Onuchic LF, Gharavi A, Hou X, Esquivel EL, Nagasawa Y, Bergmann C, Senderek J, Avner E, Zerres K, Germino GG, Guay-Woodford LM, Somlo S
  
• Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). J Am Soc Nephrol 13:76-89, 2003
  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, Büttner R, Zerres K
  
• New options for prenatal diagnosis in autosomal recessive polycystic kidney disease (ARPKD) by mutation analysis of the PKHD1 gene. Clin Genet 66:53-57, 2004
  Zerres K, Senderek J, Rudnik-Schöneborn S, Eggermann T, Kunze J, Mononen T, Kääriäinen H, Kirfel J, Moser M, Büttner R, Bergmann C
  
• PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat 23:453-463, 2004
  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
  
• PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat 23:487-495, 2004
  Bergmann C, Senderek J, Schneider F, Dornia C, Küpper F, Eggermann T, Rudnik-Schöneborn S, Kirfel J, Moser M, Büttner R, Zerres K
  
• A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD). Hepatology 41:1113-1121, 2005
  Moser M, Matthiesen S, Kirfel J, Schorle H, Bergmann C, Senderek J, Rudnik-Schöneborn S, Zerres K, Büttner R
  
• Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat 25:225-231, 2005
  Bergmann C, Küpper F, Dornia C, Schneider F, Senderek J, Zerres K
  
• Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD). J Med Genet 42:e63, 2005
  Bergmann C, Küpper F, Schmitt CP, Vester U, Neuhaus TJ, Senderek J, Zerres K
  
• Diagnosis, pathogenesis and treatment prospects in cystic kidney disease. Molecular Diagnosis & Therapy 10:163-74, 2006
  Bergmann C, Frank V, Küpper F, Kamitz D, Hanten J, Berges P, Mager S, Moser M, Kirfel J, Büttner R, Senderek J, Zerres K
  
• Functional analysis of PKHDI splicing in autosomal recessive polycystic kidney disease (ARPKD). J Hum Genet 51:788-93, 2006
  Bergmann C, Frank V, Küpper F, Schmidt C, Senderek J, Zerres K