-
1
-
-
0026466656
-
Genetic heterogeneity of polycystic kidney disease in Europe
-
edited by Breuning MH, Devoto M, Romeo G, Basel, Switzerland, Karger
-
Peters DJM, Sundkuijl LA: Genetic heterogeneity of polycystic kidney disease in Europe. In: Contributions to Nephrology: Polycystic Kidney Disease, edited by Breuning MH, Devoto M, Romeo G, Basel, Switzerland, Karger, 1992, pp 128-139
-
(1992)
Contributions to Nephrology: Polycystic Kidney Disease
, pp. 128-139
-
-
Peters, D.J.M.1
Sundkuijl, L.A.2
-
2
-
-
0025095857
-
The diagnosis and prognosis of autosomal dominant polycystic kidney disease
-
Parfrey PS, Bear JC, Morgan J, Cramer BC, McManamon PJ, Gault MH, Singh M, Hewitt R, Somlo SI: The diagnosis and prognosis of autosomal dominant polycystic kidney disease. N Engl J Med 323: 1085-1090, 1990
-
(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
Singh, M.7
Hewitt, R.8
Somlo, S.I.9
-
3
-
-
0026478608
-
Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease
-
Ravine D, Walker RG, Gibson RN, Forrest SM, Richards RI, Friend K, Sheffield LJ, Kincaid-Smith P, Danks DM: Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet 340: 1330-1333, 1992
-
(1992)
Lancet
, vol.340
, pp. 1330-1333
-
-
Ravine, D.1
Walker, R.G.2
Gibson, R.N.3
Forrest, S.M.4
Richards, R.I.5
Friend, K.6
Sheffield, L.J.7
Kincaid-Smith, P.8
Danks, D.M.9
-
4
-
-
0031571637
-
Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2)
-
Hayashi T, Mochizuki T, Reynolds DM, Wu G, Cai Y, Somlo S: Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). Genomics 44: 131-136, 1997
-
(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
-
5
-
-
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 DJM, Somlo S: PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 272: 1339-1342, 1996
-
(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.M.14
Somlo, S.15
-
6
-
-
0032475849
-
Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects
-
Nomura H, Turco AE, Pei Y, Kalaydjieva L, Schiavello T, Weremowicz S, Ji W, Morton CC, Meisler M, Reeders ST, Zhou J: Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects. J Biol Chem 273: 25967-25973, 1998
-
(1998)
J Biol Chem
, vol.273
, pp. 25967-25973
-
-
Nomura, H.1
Turco, A.E.2
Pei, Y.3
Kalaydjieva, L.4
Schiavello, T.5
Weremowicz, S.6
Ji, W.7
Morton, C.C.8
Meisler, M.9
Reeders, S.T.10
Zhou, J.11
-
7
-
-
0032534950
-
Identification of the human PKD2-related cDNA. PKD2L: Tissue-specific expression and linkage mapping on chromosome 10q25
-
Wu GQ, Hayashi T, Park JH, Dixit MP, Reynolds DM, Li L, Cai Y, Coca-Prados M, Somlo S: Identification of the human PKD2-related cDNA. PKD2L: Tissue-specific expression and linkage mapping on chromosome 10q25. Genomics 54: 564-568, 1998
-
(1998)
Genomics
, vol.54
, pp. 564-568
-
-
Wu, G.Q.1
Hayashi, T.2
Park, J.H.3
Dixit, M.P.4
Reynolds, D.M.5
Li, L.6
Cai, Y.7
Coca-Prados, M.8
Somlo, S.9
-
8
-
-
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: 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
-
(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
-
9
-
-
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 S, Pepin K, Bateman A, Chothiu C, Hughes J, Harris PC: 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
-
(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, S.7
Pepin, K.8
Bateman, A.9
Chothiu, C.10
Hughes, J.11
Harris, P.C.12
-
10
-
-
0030909957
-
PKD1 interacts with PKD2 through a probable coiled-coil domain
-
Qian F, Gcrmino FJ, Cai Y, Zhang X, Somlo S, Germino GG: PKD1 interacts with PKD2 through a probable coiled-coil domain. Nat Genet 16: 179-183, 1997
-
(1997)
Nat Genet
, vol.16
, pp. 179-183
-
-
Qian, F.1
Gcrmino, F.J.2
Cai, Y.3
Zhang, X.4
Somlo, S.5
Germino, G.G.6
-
11
-
-
0030979629
-
Homoand heterodimeric interactions between the gene products of PKD1 and PKD2
-
Tsiokas L, Kim E, Arnould T, Sukhatme VP, Walz G: Homoand heterodimeric interactions between the gene products of PKD1 and PKD2. Proc Natl Acad Sci USA 94: 6965-6970, 1997
-
(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
-
12
-
-
0031660158
-
A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds
-
Pei Y, He N, Wang K, Kasenda M, Paterson AD, Chan G, Liang Y, Roscoe J, Brissenden J, Hefferton D, Parfrey P, Somlo S, St. George-Hyslop P: A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds. J Am Soc Nephrol 9: 1853-1860, 1998
-
(1998)
J Am Soc Nephrol
, vol.9
, pp. 1853-1860
-
-
Pei, Y.1
He, N.2
Wang, K.3
Kasenda, M.4
Paterson, A.D.5
Chan, G.6
Liang, Y.7
Roscoe, J.8
Brissenden, J.9
Hefferton, D.10
Parfrey, P.11
Somlo, S.12
St. George-Hyslop, P.13
-
13
-
-
7344263460
-
A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene
-
Pei Y, Wang K, Kasenda M, Paterson AD, Liang Y, Huang E, Lian J, Rogovea E, Somlo S, St. George-Hyslop P: A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene. Kidney Int 53: 1127-1132, 1998
-
(1998)
Kidney Int
, vol.53
, pp. 1127-1132
-
-
Pei, Y.1
Wang, K.2
Kasenda, M.3
Paterson, A.D.4
Liang, Y.5
Huang, E.6
Lian, J.7
Rogovea, E.8
Somlo, S.9
St. George-Hyslop, P.10
-
14
-
-
16944366176
-
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)
-
Veldhuisen B, Saris JJ, de Haij S, Hayashi T, Reynolds DM, Mochizuki T, Ellis R, Fossdal R, Bogdanova N, van Dijk MA, Goto 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
-
(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
Ellis, R.7
Fossdal, R.8
Bogdanova, N.9
Van Dijk, M.A.10
Goto, E.11
Ravine, D.12
Norby, S.13
Verellen-Dumoulin, C.14
Breuning, M.H.15
Somlo, S.16
Peters, D.J.M.17
-
15
-
-
0031440227
-
Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene
-
Viribay M, Hayashi T, Telleria D, Mochizuki T, Reynolds DM, Alonso R, Lens XM, Moreno F, Harris PC, Somlo S, San Millan JL: Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. Hum Genet 101: 229-234, 1997
-
(1997)
Hum Genet
, vol.101
, pp. 229-234
-
-
Viribay, M.1
Hayashi, T.2
Telleria, D.3
Mochizuki, T.4
Reynolds, D.M.5
Alonso, R.6
Lens, X.M.7
Moreno, F.8
Harris, P.C.9
Somlo, S.10
San Millan, J.L.11
-
16
-
-
0030927068
-
A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PKD2)
-
Xenophontos SL, Constantinides R, Hayashi T, Mochizuki T, Somlo S, Pierides A, Deltas CC: A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PKD2). Hum Mol Genet 6: 949-952, 1997
-
(1997)
Hum Mol Genet
, vol.6
, pp. 949-952
-
-
Xenophontos, S.L.1
Constantinides, R.2
Hayashi, T.3
Mochizuki, T.4
Somlo, S.5
Pierides, A.6
Deltas, C.C.7
-
17
-
-
0030582668
-
The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I
-
Qian F, Watnick TJ, Onunchic LF, Germino GG: The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. Cell 87: 979-987, 1996
-
(1996)
Cell
, vol.87
, pp. 979-987
-
-
Qian, F.1
Watnick, T.J.2
Onunchic, L.F.3
Germino, G.G.4
-
18
-
-
0031035050
-
Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis
-
Brasier JL, Henske EP: Loss of the polycystic kidney disease (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
-
(1997)
J Clin Invest
, vol.99
, pp. 194-199
-
-
Brasier, J.L.1
Henske, E.P.2
-
19
-
-
0032540226
-
Somatic inactivation of Pkd2 results in polycystic kidney disease
-
Wu G, D'Agati V, Cai Y, Markowitz G, Park JH, Reynolds DM, Maeda Y, Le TC, Hou H Jr, Kucherlapati R, Edelmann W, Somlo S: Somatic inactivation of Pkd2 results in polycystic kidney disease. Cell 93: 177-188, 1998
-
(1998)
Cell
, vol.93
, pp. 177-188
-
-
Wu, G.1
D'Agati, 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
-
20
-
-
0032132758
-
Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease
-
Watnick TJ, Torres VE, Gandolph MA, Qian F, Onuchic LF, Klinger KW, Landes G, Germino GG: Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease. Mol Cell 2: 247-251, 1998
-
(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
-
21
-
-
0021324754
-
Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: Data for genetic counseling
-
Bear JC, McManamon P, Morgan J, Payne RH, Lewis H, Gault MH: Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: Data for genetic counseling. Am J Med Genet 18: 45-53, 1984
-
(1984)
Am J Med Genet
, vol.18
, pp. 45-53
-
-
Bear, J.C.1
McManamon, P.2
Morgan, J.3
Payne, R.H.4
Lewis, H.5
Gault, M.H.6
-
22
-
-
0029330286
-
When cells stop making sense: Effects of nonsense codons on RNA metabolism in vertebrate cells
-
Maquat LE: When cells stop making sense: Effects of nonsense codons on RNA metabolism in vertebrate cells. RNA 1: 453-465, 1995
-
(1995)
RNA
, vol.1
, pp. 453-465
-
-
Maquat, L.E.1
-
23
-
-
0029835707
-
Defects in RNA splicing and the consequence of shortened translational reading frames
-
Maquat LE: Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 59: 279-286, 1996
-
(1996)
Am J Hum Genet
, vol.59
, pp. 279-286
-
-
Maquat, L.E.1
-
24
-
-
0028136599
-
Maintenance of an open reading frame as an additional level of scrutiny during splice site selection
-
Dietz HC, Kendzior RJJ: Maintenance of an open reading frame as an additional level of scrutiny during splice site selection. Nat Genet 8: 183-188, 1994
-
(1994)
Nat Genet
, vol.8
, pp. 183-188
-
-
Dietz, H.C.1
Kendzior, R.J.J.2
-
25
-
-
0030772379
-
The regulation of splice-site selection, and its role in human disease
-
Cooper TA, Mattox W: The regulation of splice-site selection, and its role in human disease. Am J Hum Genet 61: 259-266, 1997
-
(1997)
Am J Hum Genet
, vol.61
, pp. 259-266
-
-
Cooper, T.A.1
Mattox, W.2
-
26
-
-
0030743391
-
G triplets located throughout a class of small vertebrate introns enforce intron borders and regulate splice site selection
-
McCullough AJ, Berget SM: G triplets located throughout a class of small vertebrate introns enforce intron borders and regulate splice site selection. Mol Cell Biol 17: 4562-4571, 1997
-
(1997)
Mol Cell Biol
, vol.17
, pp. 4562-4571
-
-
McCullough, A.J.1
Berget, S.M.2
-
27
-
-
0031202066
-
Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome
-
Liu W, Qian C, Francke U: Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. Nat Genet 16: 328-329, 1997
-
(1997)
Nat Genet
, vol.16
, pp. 328-329
-
-
Liu, W.1
Qian, C.2
Francke, U.3
-
28
-
-
0029025934
-
Mutation of conserved negatively charged residues in the S2 and S3 transmembrane segments of a mammalian K+ channel selectively modulates channel gating
-
Planells-Cases R, Ferrer-Montiel AV, Patten CD, Montai M: Mutation of conserved negatively charged residues in the S2 and S3 transmembrane segments of a mammalian K+ channel selectively modulates channel gating. Proc Natl Acad Sci USA 92: 9422-9426, 1995
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 9422-9426
-
-
Planells-Cases, R.1
Ferrer-Montiel, A.V.2
Patten, C.D.3
Montai, M.4
-
29
-
-
0032977495
-
Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease
-
Koptides M, Hadjimichael C, Koupepidou P, Pierides A, Constantinou DC: Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease. Hum Mol Genet 8: 509-513, 1999
-
(1999)
Hum Mol Genet
, vol.8
, pp. 509-513
-
-
Koptides, M.1
Hadjimichael, C.2
Koupepidou, P.3
Pierides, A.4
Constantinou, D.C.5
|