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.