-
1
-
-
0027925829
-
Autosomal dominant polycystic kidney disease
-
Gabow, P.A. (1993) Autosomal dominant polycystic kidney disease. N. Engl. J. Med., 329, 332-342.
-
(1993)
N. Engl. J. Med.
, vol.329
, pp. 332-342
-
-
Gabow, P.A.1
-
2
-
-
0028278058
-
The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16
-
European Polycystic Kidney Disease Consortium (1994) 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)
Cell
, vol.77
, pp. 881-894
-
-
-
3
-
-
15844385078
-
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
-
Mochizuki, T., Wu, G., Hayashi, T., Xenophontos, S., Veldhuisen, B., Saris, J.J., Reynolds, D., Cai, Y., Gabow, P., Pierides, A., Kimberling, W., Breuning, M., Constantinou Deltas, C., Peters, D. and Somlo, S. (1996) PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science, 272, 1339-1342.
-
(1996)
Science
, vol.272
, pp. 1339-1342
-
-
Mochizuki, T.1
Wu, G.2
Hayashi, T.3
Xenophontos, S.4
Veldhuisen, B.5
Saris, J.J.6
Reynolds, D.7
Cai, Y.8
Gabow, P.9
Pierides, A.10
Kimberling, W.11
Breuning, M.12
Constantinou Deltas, C.13
Peters, D.14
Somlo, S.15
-
4
-
-
0029655664
-
Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations
-
Peral, B., San Millan, J.L., Ong, A.C.M., Gamble, V., Ward, C.J., Strong, C. and Harris, P.C. (1996) Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. Am. J. Hum. Genet., 58, 86-96.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 86-96
-
-
Peral, B.1
San Millan, J.L.2
Ong, A.C.M.3
Gamble, V.4
Ward, C.J.5
Strong, C.6
Harris, P.C.7
-
5
-
-
16944366176
-
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney (PKD2)
-
Veldhuisen, B., Saris, J.J., De Haij, S., Hayashi, T., Reynolds, D.M., Mochizuki, T., Elles, R., Fossdal, R., Bogdanova, N., van Dijk, A.M., Coto, E., Ravine, D., Norby, S., Verellen-Dumoulin, C., Breuning, M.H., Somlo, S. and Peters, D.J.M. (1997) A spectrum of mutations in the second gene for autosomal dominant polycystic kidney (PKD2). Am. J. Hum. Genet., 61, 547-555.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 547-555
-
-
Veldhuisen, B.1
Saris, J.J.2
De Haij, S.3
Hayashi, T.4
Reynolds, D.M.5
Mochizuki, T.6
Elles, R.7
Fossdal, R.8
Bogdanova, N.9
Van Dijk, A.M.10
Coto, E.11
Ravine, D.12
Norby, S.13
Verellen-Dumoulin, C.14
Breuning, M.H.15
Somlo, S.16
Peters, D.J.M.17
-
6
-
-
0030909957
-
PKD1 interacts with PKD2 through a probable coiled-coil domain
-
Qian, F., Germino, E.J., Cai, Y., Zhang, X., Somlo, S. and Germino, G.G. (1997) PKD1 interacts with PKD2 through a probable coiled-coil domain. Nature Genet., 16, 179-183.
-
(1997)
Nature Genet.
, vol.16
, pp. 179-183
-
-
Qian, F.1
Germino, E.J.2
Cai, Y.3
Zhang, X.4
Somlo, S.5
Germino, G.G.6
-
7
-
-
0030979629
-
Homoand heterodimeric interactions between the gene products of PKD1 and PKD2
-
Tsiokas, L., Kim, E., Arnould, T., Sukhatme, V.P. and Walz, G. (1997) Homoand heterodimeric interactions between the gene products of PKD1 and PKD2. Proc. Natl Acad. Sci. USA, 94, 6965-6970.
-
(1997)
Proc. Natl Acad. Sci. USA
, vol.94
, pp. 6965-6970
-
-
Tsiokas, L.1
Kim, E.2
Arnould, T.3
Sukhatme, V.P.4
Walz, G.5
-
8
-
-
0030582668
-
The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type 1
-
Qian, F., Watnick, T.J., Luiz, F., Onuchic, L.F. and Germino, G.G. ( 1996) The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type 1. Cell, 87, 979-987.
-
(1996)
Cell
, vol.87
, pp. 979-987
-
-
Qian, F.1
Watnick, T.J.2
Luiz, F.3
Onuchic, L.F.4
Germino, G.G.5
-
9
-
-
0031035050
-
Loss of the polycystic kidney disease (PKD1) region of 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis
-
Brasier, J.L. and Henske, E.P. (1997) Loss of the polycystic kidney disease (PKD1) region of 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis. J. Clin. Invest., 99, 194-199.
-
(1997)
J. Clin. Invest.
, vol.99
, pp. 194-199
-
-
Brasier, J.L.1
Henske, E.P.2
-
10
-
-
0032421405
-
Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1
-
Koptides, M., Constantinides, R., Kyriakides, G., Hadjigavriel, M., Patsalis, P.C., Pierides, A. and Constantinou Deltas, C. (1998) Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1. Hum. Genet., 103, 709-717.
-
(1998)
Hum. Genet.
, vol.103
, pp. 709-717
-
-
Koptides, M.1
Constantinides, R.2
Kyriakides, G.3
Hadjigavriel, M.4
Patsalis, P.C.5
Pierides, A.6
Constantinou Deltas, C.7
-
11
-
-
0032132758
-
Somatic mutation in individual liver cysts supports a two-hit model for cystogenesis in autosomal dominant polycystic kidney disease
-
Watnick, T.J., Torres, V.E., Gandolph, M.A., Qian, F., Onuchic, L.F., Klinger, K.W., Landes, G. and Germino, G.G. (1998) Somatic mutation in individual liver cysts supports a two-hit model for cystogenesis in autosomal dominant polycystic kidney disease. Mol. Cell, 2, 247-251.
-
(1998)
Mol. Cell
, vol.2
, pp. 247-251
-
-
Watnick, T.J.1
Torres, V.E.2
Gandolph, M.A.3
Qian, F.4
Onuchic, L.F.5
Klinger, K.W.6
Landes, G.7
Germino, G.G.8
-
12
-
-
0032540226
-
Somatic inactivation of Pkd2 results in polycystic kidney disease
-
Wu, G., Dagati, V., Cai, Y., Markowitz, G., Park, J.H., Reynolds, D.M., Maeda, Y., Le, T.C., Hou, H. Jr, Kucherlapati, R., Edelmann, W. and Somlo, S. (1998) Somatic inactivation of Pkd2 results in polycystic kidney disease. Cell, 93, 177-188.
-
(1998)
Cell
, vol.93
, pp. 177-188
-
-
Wu, G.1
Dagati, V.2
Cai, Y.3
Markowitz, G.4
Park, J.H.5
Reynolds, D.M.6
Maeda, Y.7
Le, T.C.8
Hou H., Jr.9
Kucherlapati, R.10
Edelmann, W.11
Somlo, S.12
-
13
-
-
0026894270
-
Multilocus polycystic disease
-
Reeders, S.T. (1992) Multilocus polycystic disease. Nature Genet., 1, 235-237.
-
(1992)
Nature Genet.
, vol.1
, pp. 235-237
-
-
Reeders, S.T.1
-
14
-
-
0030927068
-
A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PKD2)
-
Xenophontos, S., Constantinides, R., Hayashi, T., Mochizuki, T., Somlo, S., Pierides, A. and Constantinou Deltas, C. (1997) A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PKD2). Hum. Mol. Genet., 6, 949-952.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 949-952
-
-
Xenophontos, S.1
Constantinides, R.2
Hayashi, T.3
Mochizuki, T.4
Somlo, S.5
Pierides, A.6
Constantinou Deltas, C.7
-
15
-
-
0030887477
-
Molecular basis of renal cyst formation - One hit or two
-
Ong, A.C.M. and Harris, P.C. (1997) Molecular basis of renal cyst formation - one hit or two. Lancet, 349, 1039-1040.
-
(1997)
Lancet
, vol.349
, pp. 1039-1040
-
-
Ong, A.C.M.1
Harris, P.C.2
-
16
-
-
0030776156
-
Loss of heterozygosity or: How I learned to stop worrying and love mitotic recombination
-
Tischfield, J.A. (1997) Loss of heterozygosity or: how I learned to stop worrying and love mitotic recombination. Am. J. Hum. Genet., 61, 995-999.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 995-999
-
-
Tischfield, J.A.1
-
17
-
-
0027504088
-
Antioncogenes and human cancer
-
Knudson, A.G. (1993) Antioncogenes and human cancer. Proc. Natl Acad. Sci. USA, 90, 10914-10921.
-
(1993)
Proc. Natl Acad. Sci. USA
, vol.90
, pp. 10914-10921
-
-
Knudson, A.G.1
-
18
-
-
0025380629
-
Polycystic kidney disease: Neoplasia in disguise
-
Grantham, J.J. (1990) Polycystic kidney disease: neoplasia in disguise. Am. J. Kidney Dis., 15, 110-116.
-
(1990)
Am. J. Kidney Dis.
, vol.15
, pp. 110-116
-
-
Grantham, J.J.1
-
19
-
-
0028918961
-
Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families
-
Constantinou Deltas, C., Papageorgiou, E., Boteva, K., Christodoulou, K., Breuning, M.H., Peters, D.J.M. and Pierides, A. (1995) Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families. Hum. Genet., 95, 416-423.
-
(1995)
Hum. Genet.
, vol.95
, pp. 416-423
-
-
Constantinou Deltas, C.1
Papageorgiou, E.2
Boteva, K.3
Christodoulou, K.4
Breuning, M.H.5
Peters, D.J.M.6
Pierides, A.7
-
20
-
-
0031571637
-
Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2)
-
Hayashi, T., Mochizuki, T., Reynolds, D.M., Wu, G., Cai, Y. and Somlo, S. (1997) Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). Genomics, 44, 131-136.
-
(1997)
Genomics
, vol.44
, pp. 131-136
-
-
Hayashi, T.1
Mochizuki, T.2
Reynolds, D.M.3
Wu, G.4
Cai, Y.5
Somlo, S.6
|