Polycystic Kidney Disease

 

 

Publications                                                                                      

 

Selected references before 1996:

Peters DJM, Sandkuijl LA. Genetic heterogeneity of polycystic kidney disease in Europe. In: Breuning MH, Devoto M, Romeo G, editors. Contributions to Nephrology, Vol. 97: Polycystic Kidney Disease. Basel: Karger, 1992: 128-39.

Peters DJM, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, Boersma J, van Eijk R, Norby  S, Constantinou Deltas CD, Pierides A, Brissenden JE, Frants RR, van Ommen GJB, Breuning  MH: Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney  disease. Nature Genet 5: 359-362, 1993

 The European Chromosome 16 Tuberous Sclerosis Consortium, Nellist M, Janssen B, Brook-Carter PT, Hesseling-Jansen ALW, Maheshwar MM, Verhoef S, Van den Ouweland  AMW, Lindhout D, Eussen B, Cordeiro I, Santos H, Halley DJJ, Sampson JR, Ward CJ, Peral B,  Thomas S, Hughes J, Harris PC, Roelfsema JH, et al. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75: 1-20, 1993

The European Polycystic Kidney Disease Consortium, Ward CJ, Peral B, Hughes J, Thomas S,  Gamble V, MacCarthy AB, Sloane-Stanley J, Buckle VJ, Kearney L, Higgs DR, Ratcliffe PJ, Harris PC, Roelfsema JH, Spruit L, Saris JJ, Dauwerse JG, Peters DJM, Breuning MH, Nellist M,  et al. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated  region on chromosome 16. Cell 77: 881- 894, 1994  

References 1996-2003:

Pirson Y, Lannoy N, Peters DJM, Geubel A, Gigot J-F, Breuning MH, Verellen-Dumoulin C: Isolated polycystic liver disease as a distinct genetic disease, unlinked to PKD1 and PKD2.  Hepatology 23: 249-252, 1996

Breuning MH, Peters DJM. ; Watson ML, Torres VE, editors.Polycystic kidney disease. Oxford:  Oxford University Press, 1996; 15, Genetic heterogeneity of autosomal dominant polycystic kidney disease. p. 391-403.

 Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ, Reynolds DM, Cai  Y, Gabow PA, Pierides A, Kimberling WJ, Breuning MH, Constantinou Deltas C, Peters DJM,     Somlo S: PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.  Science 272: 1339-1342, 1996

 Veldhuisen B, Breuning MH, Wesby-van Swaay E, Boersma J, Peters DJM: Analysis of a large  family with the second type of autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 11 [Suppl 6]: 13-17, 1996

 Peters DJM, Spruit L, Klingel R, Prins F, Baelde HJJ, Giordano PC, Bernini LF, De Heer E,  Breuning MH, Bruijn JA: Adult, fetal and polycystic kidney expression of polycystin, the polycystic kidney disease- 1 gene product. Lab Invest 75: 221-230, 1996

 Roelfsema JH, Peters DJM, Breuning MH: Detection of translation terminating mutations in the  PKD1 gene. Nephrol Dial Transplant 11 [Suppl 6]: 5-9, 1996

 Veldhuisen B, Saris JJ, Haij Sd, Hayashi T, Reynolds DM, Mochizuki T, Ellis R, Fossdal R, Bogdanova N, Van Dijk MA, Coto E, Ravine D, Norby S, Verellen‑Dumoulin C, Breuning MH,   Somlo S, Peters DJM: A spectrum of mutations in the second gene for autosomal dominant  polycystic kidney disease (PKD2). Am J Hum Genet 61: 547-555, 1997

Roelfsema JH, Spruit L, Saris JJ, Chang PC, Pirson Y, Ommen GJBv, Peters DJM, Breuning   MH: Mutation detection in the repeated part of the PKD1 gene. Am J Hum Genet 61: 1044-1052,  1997

 Peters DJM, Wal Av, Spruit L, Saris JJ, Breuning MH, Bruijn JA, Heer Ed: Cellular localisation  and tissue distribution of polycystin-1. J Pathol 188: 439-446,  1999

 Van Dijk MA, Peters DJM, Breuning MH, Chang PC: The Angiotensin converting enzyme genotype and microalbuminuria in autosomal dominant polycystic kidney disease. J Am Soc  Nephrol : 15 (6): 836-839, 1999

 Veldhuisen B, Spruit L, Dauwerse HG, Breuning MH, Peters DJM: Genes homologous to the  autosomal dominant polycystic kidney disease genes (PKD1 and PKD2). Eur J Hum Genet, 7(8): 860-872, 1999

 Reybolds,D.M, Hayashi, T., Cai, Y., Veldhuisen, B., Watnick, T.J., Lens, X.M., Mochizuki, T., Qian, F., Fossdal, R., Coto, E., Wu., G., Breunig, M.H., Germino, G.G., Peters, D.J.M., Somlo, S.: Aberrant splicing in the PKD2 gene as a cause of Polycystic kidney disease. JASN, 10(11): 2342-2351, 1999.

 Hateboer N, Veldhuisen B, Peters D, Breuning MH, San Millan JL, Bogdanova N, Coto E, Van Dijk MA, Afzal AR, Jeffery S, Saggar-Malik AK, Torra R, Dimitrakov D, Martinez I, de Castro SS, Krawczak M, Ravine D. Location of mutations within the PKD2 gene influences clinical outcome. Kidney Int 2000; 57(4):1444-1451.               

Scheffers MS, van der Bent P, Prins F, Spruit L, Breuning MH, Litvinov SV, De Heer E, Peters DJM. Polycystin-1, the product of the polycystic kidney disease 1 gene, co-localizes with desmosomes in MDCK-cells. Hum Mol Genet 2000; 9(18).

Peters DJ, Paul LC. Van gen naar ziekte; van polycystinen naar polycysteuze nierziekten. Ned.Tijdschr.Geneeskd. 2001; 145: 173-175.

Peters DJM, Breuning MH. Autosomal Dominant Polycystic Kidney Disease: Modification of disease progression. Lancet 2001; Volume 358, Number 9291, 27 October 2001.

Dauwerse,J.G., Bouman,K., van Essen,A.J., A.H.van der Hout, Kolsters,G., Breuning,M.H., and Peters,D.J.M. Acrofacial dystosis in a patient with the TSC2-PKD1 contiguous gene syndrome. J. Med. Genet 2002; 39, 136-141.  

Reiterova J, Stekrova J, Peters DJ, Kapras J, Kohoutova M, Merta M, Zidovska J. Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. Hum Mutat, 2002;19:573.

Scheffers MS, Le H, van der Bent P, Leonhard W, Prins F, Spruit L, Breuning MH, de Heer E, Peters DJ. Distinct subcellular expression of endogenous polycystin-2 in the plasma membrane and Golgi apparatus of MDCK cells. Hum Mol Genet, 11, 59-67, 2002.

Magistroni,R., He,N., Wang,K., Andrew,R., Johnson,A., Gabow,P., Dicks,E., Parfrey,P., Torra,R., San Millan,J.L., Coto,E., Van Dijk,M., Breuning,M., Peters,D., Bogdanova,N., Ligabue,G., Albertazzi,A., Hateboer,N., Demetriou,K., Pierides,A., Deltas,C., George-Hyslop,P., Ravine,D., and Pei,Y. Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. J.Am.Soc.Nephrol., 14,1164-1174, 2003.

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