-
1
-
-
0029442506
-
ADPKD: Practical implications of population genetics
-
Bear JC (1995) ADPKD: practical implications of population genetics. Contrib Nephrol 115:20-27
-
(1995)
Contrib Nephrol
, vol.115
, pp. 20-27
-
-
Bear, J.C.1
-
2
-
-
0031035050
-
Loss of the polycystic kidney discase (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis
-
Brasier JL, Henske EP (1997) Loss of the polycystic kidney discase (PKD1) region of chromosome 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
-
3
-
-
0025876084
-
Pathogenesis of hypertension in autosomal dominant polycystic kidney disease
-
Chapman AB, Schrier RW (1991) Pathogenesis of hypertension in autosomal dominant polycystic kidney disease. Semin Nephrol 11:653-660
-
(1991)
Semin Nephrol
, vol.11
, pp. 653-660
-
-
Chapman, A.B.1
Schrier, R.W.2
-
4
-
-
0029438144
-
The rate of progression of renal failure in ADPKD
-
Choukroun G, Itakura Y, Man NK, Christophe JL, Albouze G, Jungers P, Grunfeld JP (1995) The rate of progression of renal failure in ADPKD. Contrib Nephrol 115:28-32
-
(1995)
Contrib Nephrol
, vol.115
, pp. 28-32
-
-
Choukroun, G.1
Itakura, Y.2
Man, N.K.3
Christophe, J.L.4
Albouze, G.5
Jungers, P.6
Grunfeld, J.P.7
-
5
-
-
0021176194
-
Prognosis of adult onset polycystic kidney disease re-evaluated
-
Churchill DN, Bear JC, Morgan J, Payne RH, McManamon PJ, Gault MH (1984) Prognosis of adult onset polycystic kidney disease re-evaluated. Kidney Int 26:190-193
-
(1984)
Kidney Int
, vol.26
, pp. 190-193
-
-
Churchill, D.N.1
Bear, J.C.2
Morgan, J.3
Payne, R.H.4
McManamon, P.J.5
Gault, M.H.6
-
6
-
-
0031899557
-
Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene
-
Daniells C, Maheshwar M, Lazarou L, Davies F, Ravine D (1998) Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene. Hum Genet 102:216-220
-
(1998)
Hum Genet
, vol.102
, pp. 216-220
-
-
Daniells, C.1
Maheshwar, M.2
Lazarou, L.3
Davies, F.4
Ravine, D.5
-
7
-
-
0028932219
-
Evidence for a third genetic locus for autosomal dominant polycystic kidney disease
-
Daoust MC, Reynolds DM, Bichet DG, Somlo S (1995) Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 25:733-736
-
(1995)
Genomics
, vol.25
, pp. 733-736
-
-
Daoust, M.C.1
Reynolds, D.M.2
Bichet, D.G.3
Somlo, S.4
-
8
-
-
0025822504
-
Polycystic kidney disease re-evaluated: A population-based study
-
Davies F, Coles GA, Harper PS, Williams AJ, Evans C, Cochlin D (1991) Polycystic kidney disease re-evaluated: a population-based study. QJM 79:477-485
-
(1991)
QJM
, vol.79
, pp. 477-485
-
-
Davies, F.1
Coles, G.A.2
Harper, P.S.3
Williams, A.J.4
Evans, C.5
Cochlin, D.6
-
9
-
-
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
-
-
-
10
-
-
0027925829
-
Autosomal dominant polycystic kidney disease
-
Gabow PA (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
-
11
-
-
0026563828
-
Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease
-
Gabow PA, Johnson AM, Kaehny WD, Kimberling WJ, Lezotte DC, Duley IT, Jones RH (1992) Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease. Kidney Int 41:1311-1319
-
(1992)
Kidney Int
, vol.41
, pp. 1311-1319
-
-
Gabow, P.A.1
Johnson, A.M.2
Kaehny, W.D.3
Kimberling, W.J.4
Lezotte, D.C.5
Duley, I.T.6
Jones, R.H.7
-
12
-
-
0029069583
-
The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains
-
Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, San Millan JL, Gamble V, Harris PC (1995) The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet 10:151-160
-
(1995)
Nat Genet
, vol.10
, pp. 151-160
-
-
Hughes, J.1
Ward, C.J.2
Peral, B.3
Aspinwall, R.4
Clark, K.5
San Millan, J.L.6
Gamble, V.7
Harris, P.C.8
-
13
-
-
0029002967
-
Polycystic kidney disease: The complete structure of the PKD1 gene and its protein
-
International Polycystic Kidney Disease Consortium (1995) Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. Cell 81:289-298
-
(1995)
Cell
, vol.81
, pp. 289-298
-
-
-
14
-
-
0027767585
-
Autosomal dominant polycystic kidney disease: Localization of the second gene to chromosome 4q13-q23
-
Kimberling WJ, Kumar S, Gabow PA, Kenyon JB, Connolly CJ, Somlo S (1993) Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23. Genomics 18:467-472
-
(1993)
Genomics
, vol.18
, pp. 467-472
-
-
Kimberling, W.J.1
Kumar, S.2
Gabow, P.A.3
Kenyon, J.B.4
Connolly, C.J.5
Somlo, S.6
-
15
-
-
0023256559
-
Slipped-strand mispairing: A major mechanism for DNA sequence evolution
-
Levinson G, Gutman GA (1987) Slipped-strand mispairing: a major mechanism for DNA sequence evolution. Mol Biol Evol 4: 203-221
-
(1987)
Mol Biol Evol
, vol.4
, pp. 203-221
-
-
Levinson, G.1
Gutman, G.A.2
-
16
-
-
0031981387
-
Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease
-
MacDermot KD, Saggar-Malik AK, Economides DL, Jeffery S (1998) Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease. J Med Genet 35:13-16
-
(1998)
J Med Genet
, vol.35
, pp. 13-16
-
-
MacDermot, K.D.1
Saggar-Malik, A.K.2
Economides, D.L.3
Jeffery, S.4
-
17
-
-
15844385078
-
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
-
Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ, Reynolds DM, Cai Y, Gabow PA, Pierides A, Kimberling WJ, Breuning MH, Deltas CC, Peters DJ, 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.L.4
Veldhuisen, B.5
Saris, J.J.6
Reynolds, D.M.7
Cai, Y.8
Gabow, P.A.9
Pierides, A.10
Kimberling, W.J.11
Breuning, M.H.12
Deltas, C.C.13
Peters, D.J.14
Somlo, S.15
-
18
-
-
0029977293
-
The sea urchin sperm receptor for egg jelly is a modular protein with extensive homology to the human polycystic kidney disease protein, PKD1
-
Moy GW, Mendoza LM, Schulz JR, Swanson WJ, Glabe CG, Vacquier VD (1996) The sea urchin sperm receptor for egg jelly is a modular protein with extensive homology to the human polycystic kidney disease protein, PKD1. J Cell Biol 133: 809-817
-
(1996)
J Cell Biol
, vol.133
, pp. 809-817
-
-
Moy, G.W.1
Mendoza, L.M.2
Schulz, J.R.3
Swanson, W.J.4
Glabe, C.G.5
Vacquier, V.D.6
-
19
-
-
0025095857
-
The diagnosis and prognosis of autosomal dominant polycystic kidney disease
-
Parfrey PS, Bear JC, Morgan J, Cramer BC, McManamon PJ, Gault MH, Churchill DN, Singh M, Hewitt R, Somlo S, Reeders ST (1990) The diagnosis and prognosis of autosomal dominant polycystic kidney disease. N Engl J Med 323:1085-1090
-
(1990)
N Engl J Med
, vol.323
, pp. 1085-1090
-
-
Parfrey, P.S.1
Bear, J.C.2
Morgan, J.3
Cramer, B.C.4
McManamon, P.J.5
Gault, M.H.6
Churchill, D.N.7
Singh, M.8
Hewitt, R.9
Somlo, S.10
Reeders, S.T.11
-
20
-
-
0029655664
-
Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations
-
Peral B, San Millan JL, Ong AC, Gamble V, Ward CJ, Strong C, Harris PC (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.3
Gamble, V.4
Ward, C.J.5
Strong, C.6
Harris, P.C.7
-
21
-
-
0030978851
-
Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach
-
Peral B, Gamble V, Strong C, Ong AC, Sloane-Stanley J, Zerres K, Winearls CG, Harris PC (1997) Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. Am J Hum Genet 60:1399-1410
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1399-1410
-
-
Peral, B.1
Gamble, V.2
Strong, C.3
Ong, A.C.4
Sloane-Stanley, J.5
Zerres, K.6
Winearls, C.G.7
Harris, P.C.8
-
22
-
-
0027452094
-
Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease
-
Peters DJ, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, Boersma J, van Eijk R, Norby S, Constantinou-Deltas CD, Peirides A, Brissenden JE, Frants RR, Van Ommen G-JB, Breuning MH (1993) Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nat Genet 5:359-362
-
(1993)
Nat Genet
, vol.5
, pp. 359-362
-
-
Peters, D.J.1
Spruit, L.2
Saris, J.J.3
Ravine, D.4
Sandkuijl, L.A.5
Fossdal, R.6
Boersma, J.7
Van Eijk, R.8
Norby, S.9
Constantinou-Deltas, C.D.10
Peirides, A.11
Brissenden, J.E.12
Frants, R.R.13
Van Ommen, G.-J.B.14
Breuning, M.H.15
-
23
-
-
0030582668
-
The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type i
-
Qian F, Watnick TJ, Onuchic LF, Germino GG (1996) The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. Cell 87:979-987
-
(1996)
Cell
, vol.87
, pp. 979-987
-
-
Qian, F.1
Watnick, T.J.2
Onuchic, L.F.3
Germino, G.G.4
-
24
-
-
0030909957
-
PKD1 interacts with PKD2 through a probable coiled-coil domain
-
Qian F, Germino FJ, Cai Y, Zhang X, Somlo S, Germino GG (1997) PKD1 interacts with PKD2 through a probable coiled-coil domain. Nat Genet 16:179-183
-
(1997)
Nat Genet
, vol.16
, pp. 179-183
-
-
Qian, F.1
Germino, F.J.2
Cai, Y.3
Zhang, X.4
Somlo, S.5
Germino, G.G.6
-
25
-
-
0022410264
-
A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16
-
Reeders ST, Breuning MH, Davies KE, Nicholls RD, Jarman AP, Higgs DR, Pearson PL, Weatherall DJ (1985) A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317:542-544
-
(1985)
Nature
, vol.317
, pp. 542-544
-
-
Reeders, S.T.1
Breuning, M.H.2
Davies, K.E.3
Nicholls, R.D.4
Jarman, A.P.5
Higgs, D.R.6
Pearson, P.L.7
Weatherall, D.J.8
-
26
-
-
0023880847
-
A second genetic locus for autosomal dominant polycystic kidney disease
-
Romeo G, Devoto M, Costa G, Roncuzzi L, Catizone L, Zucchelli P, Germino GG, Keith T, Weatherall DJ, Reeders ST (1988) A second genetic locus for autosomal dominant polycystic kidney disease. Lancet 2:8-11
-
(1988)
Lancet
, vol.2
, pp. 8-11
-
-
Romeo, G.1
Devoto, M.2
Costa, G.3
Roncuzzi, L.4
Catizone, L.5
Zucchelli, P.6
Germino, G.G.7
Keith, T.8
Weatherall, D.J.9
Reeders, S.T.10
-
27
-
-
0029861825
-
Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 gene
-
Rossetti S, Bresin E, Restagno G, Carbonara A, Corra S, De Prisco O, Pignatti PF, Turco AE (1996) Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 gene. Am J Med Genet 65:155-159
-
(1996)
Am J Med Genet
, vol.65
, pp. 155-159
-
-
Rossetti, S.1
Bresin, E.2
Restagno, G.3
Carbonara, A.4
Corra, S.5
De Prisco, O.6
Pignatti, P.F.7
Turco, A.E.8
-
28
-
-
9844245128
-
Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains
-
Sandford R, Sgotto B, Aparicio S, Brenner S, Vaudin M, Wilson RK, Chissoe A, Chothia C, Hughes J, Harris P (1997) Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains. Hum Mol Genet 6:1483-1489
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1483-1489
-
-
Sandford, R.1
Sgotto, B.2
Aparicio, S.3
Brenner, S.4
Vaudin, M.5
Wilson, R.K.6
Chissoe, A.7
Chothia, C.8
Hughes, J.9
Harris, P.10
-
29
-
-
0030979629
-
Homo-and heterodimeric interactions between the gene products of PKD1 and PKD2
-
Tsiokas L, Kim E, Arnould T, Sukhatme VP, Walz G (1997) Homo-and 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
-
30
-
-
0029149637
-
A novel nonsense mutation in the PKD1 gene (C3817 T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family
-
Turco AE, Rossetti S, Bresin E, Corra S, Gammaro L, Maschio G, Pignatti PF (1995) A novel nonsense mutation in the PKD1 gene (C3817 T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family. Hum Mol Genet 4:1331-1335
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1331-1335
-
-
Turco, A.E.1
Rossetti, S.2
Bresin, E.3
Corra, S.4
Gammaro, L.5
Maschio, G.6
Pignatti, P.F.7
-
31
-
-
0030852875
-
Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease
-
Turco AE, Rossetti S, Bresin E, Englisch S, Corra S, Pignatti PF (1997) Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease. Hum Mut 10:164-167
-
(1997)
Hum Mut
, vol.10
, pp. 164-167
-
-
Turco, A.E.1
Rossetti, S.2
Bresin, E.3
Englisch, S.4
Corra, S.5
Pignatti, P.F.6
-
32
-
-
0032540226
-
Somatic inactivation of Pkd2 results in polycystic kidney disease
-
Wu G, D'Agati V, Cai Y, Markowits G, Park JH, Reynolds DM, Maeda Y, Le TC, Hou JrH, Kucherlapali R, Edelman W, Solmo 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
D'Agati, V.2
Cai, Y.3
Markowits, G.4
Park, J.H.5
Reynolds, D.M.6
Maeda, Y.7
Le, T.C.8
Hou H., Jr.9
Kucherlapali, R.10
Edelman, W.11
Solmo, S.12
|