-
1
-
-
0020560448
-
Epidemiology of adult polycystic kidney disease, Olmsted county, Minnesota: 1935-1980
-
Iglesias CG, Torres VE, Offord KP, Holley KE, Beard CM, Kurland LT. Epidemiology of adult polycystic kidney disease, Olmsted County, Minnesota: 1935-1980. Am J Kidney Dis. 1983;2(6):630-639. (Pubitemid 13078640)
-
(1983)
American Journal of Kidney Diseases
, vol.2
, Issue.6
, pp. 630-639
-
-
Iglesias, C.G.1
Torres, V.E.2
Offord, K.P.3
-
2
-
-
84924646510
-
Bilateral polycystic disease of the kidneys; a follow-up of two hundred and eightyfour patients and their families
-
Dalgaard OZ. Bilateral polycystic disease of the kidneys; a follow-up of two hundred and eightyfour patients and their families. Acta Med Scand Suppl. 1957;328:1-255.
-
(1957)
Acta Med Scand Suppl
, vol.328
, pp. 1-255
-
-
Dalgaard, O.Z.1
-
3
-
-
15844385078
-
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
-
Mochizuki T, et al. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science. 1996;272(5266):1339-1342. (Pubitemid 26199975)
-
(1996)
Science
, vol.272
, Issue.5266
, 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
-
4
-
-
34447286491
-
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease
-
DOI 10.1681/ASN.2006121387
-
Rossetti S, et al. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2007;18(7):2143-2160. (Pubitemid 47041080)
-
(2007)
Journal of the American Society of Nephrology
, vol.18
, Issue.7
, pp. 2143-2160
-
-
Rossetti, S.1
Consugar, M.B.2
Chapman, A.B.3
Torres, V.E.4
Guay-Woodford, L.M.5
Grantham, J.J.6
Bennett, W.M.7
Meyers, C.M.8
Walker, D.L.9
Bae, K.10
Zhang, Q.11
Thompson, P.A.12
Miller, J.P.13
Harris, P.C.14
-
5
-
-
0028278058
-
The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16
-
[No authors listed]. The European Polycystic Kidney Disease Consortium
-
[No authors listed]. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium. Cell. 1994;77(6):881-894.
-
(1994)
Cell
, vol.77
, Issue.6
, pp. 881-894
-
-
-
6
-
-
84883877798
-
Polycystic kidney disease, autosomal dominant
-
Pagon RA, et al., eds. Seattle, Washington, USA: University of Seattle; updated
-
Harris PC, Torres VE. Polycystic kidney disease, autosomal dominant. In: Pagon RA, et al., eds. GeneReviews. Seattle, Washington, USA: University of Seattle; 1993(updated 2011):NBK1246.
-
(1993)
GeneReviews
-
-
Harris, P.C.1
Torres, V.E.2
-
7
-
-
34047276812
-
Autosomal dominant polycystic kidney disease
-
DOI 10.1016/S0140-6736(07)60601-1, PII S0140673607606011
-
Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet. 2007;369(9569):1287-1301. (Pubitemid 46552051)
-
(2007)
Lancet
, vol.369
, Issue.9569
, pp. 1287-1301
-
-
Torres, V.E.1
Harris, P.C.2
Pirson, Y.3
-
9
-
-
79960644241
-
Cystic diseases of the kidney: Ciliary dysfunction and cystogenic mechanisms
-
Gascue C, Katsanis N, Badano JL. Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms. Pediatr Nephrol. 2011;26(8):1181-1195.
-
(2011)
Pediatr Nephrol
, vol.26
, Issue.8
, pp. 1181-1195
-
-
Gascue, C.1
Katsanis, N.2
Badano, J.L.3
-
10
-
-
68749117663
-
Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3
-
Tammachote R, et al. Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. Hum Mol Genet. 2009;18(17):3311-3323.
-
(2009)
Hum Mol Genet
, vol.18
, Issue.17
, pp. 3311-3323
-
-
Tammachote, R.1
-
11
-
-
34547462511
-
A mouse model of autosomal recessive polycystic kidney disease with biliary duct and proximal tubule dilatation
-
DOI 10.1038/sj.ki.5002294, PII 5002294
-
Woollard JR, et al. A mouse model of autosomal recessive polycystic kidney disease with biliary duct and proximal tubule dilatation. Kidney Int. 2007;72(3):328-336. (Pubitemid 47172370)
-
(2007)
Kidney International
, vol.72
, Issue.3
, pp. 328-336
-
-
Woollard, J.R.1
Punyashtiti, R.2
Richardson, S.3
Masyuk, T.V.4
Whelan, S.5
Huang, B.Q.6
Lager, D.J.7
Vandeursen, J.8
Torres, V.E.9
Gattone, V.H.10
Larusso, N.F.11
Harris, P.C.12
Ward, C.J.13
-
12
-
-
0142168748
-
Defects in Cholangiocyte Fibrocystin Expression and Ciliary Structure in the PCK Rat
-
DOI 10.1016/j.gastro.2003.09.001
-
Masyuk TV, et al. Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat. Gastroenterology. 2003;125(5):1303-1310. (Pubitemid 37409750)
-
(2003)
Gastroenterology
, vol.125
, Issue.5
, pp. 1303-1310
-
-
Masyuk, T.V.1
Huang, B.Q.2
Ward, C.J.3
Masyuk, A.I.4
Yuan, D.5
Splinter, P.L.6
Punyashthiti, R.7
Ritman, E.L.8
Torres, V.E.9
Harris, P.C.10
Larusso, N.F.11
-
13
-
-
33847792873
-
2+ signaling
-
DOI 10.1152/ajprenal.00285.2006
-
Xu C, et al. Human ADPKD primary cyst epithelial cells with a novel, single codon deletion in the PKD1 gene exhibit defective ciliary polycystin localization and loss of flow-induced Ca2+ signaling. Am J Physiol Renal Physiol. 2007;292(3):F930-F945. (Pubitemid 46393419)
-
(2007)
American Journal of Physiology - Renal Physiology
, vol.292
, Issue.3
-
-
Xu, C.1
Rossetti, S.2
Jiang, L.3
Harris, P.C.4
Brown-Glaberman, U.5
Wandinger-Ness, A.6
Bacallao, R.7
Alper, S.L.8
-
14
-
-
0037317302
-
Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells
-
DOI 10.1038/ng1076
-
Nauli SM, et al. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet. 2003;33(2):129-137. (Pubitemid 36177063)
-
(2003)
Nature Genetics
, vol.33
, Issue.2
, pp. 129-137
-
-
Nauli, S.M.1
Alenghat, F.J.2
Luo, Y.3
Williams, E.4
Vassilev, P.5
Li, X.6
Elia, A.E.H.7
Lu, W.8
Brown, E.M.9
Quinn, S.J.10
Ingber, D.E.11
Zhou, J.12
-
15
-
-
77952491724
-
Pkd1 transgenic mice: Adult model of polycystic kidney disease with extrarenal and renal phenotypes
-
Kurbegovic A, Cote O, Couillard M, Ward CJ, Harris PC, Trudel M. Pkd1 transgenic mice: adult model of polycystic kidney disease with extrarenal and renal phenotypes. Hum Mol Genet. 2010;19(7):1174-1189.
-
(2010)
Hum Mol Genet
, vol.19
, Issue.7
, pp. 1174-1189
-
-
Kurbegovic, A.1
Cote, O.2
Couillard, M.3
Ward, C.J.4
Harris, P.C.5
Trudel, M.6
-
16
-
-
67649841563
-
Autosomal dominant polycystic kidney disease: The last 3 years
-
Torres VE, Harris PC. Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int. 2009;76(2):149-168.
-
(2009)
Kidney Int
, vol.76
, Issue.2
, pp. 149-168
-
-
Torres, V.E.1
Harris, P.C.2
-
17
-
-
0036785149
-
The polycystic kidney disease proteins, polycystin-1, polycystin- 2, polaris, and cystin, are co-localized in renal cilia
-
Yoder BK, Hou X, Guay-Woodford LM. The polycystic kidney disease proteins, polycystin-1, polycystin- 2, polaris, and cystin, are co-localized in renal cilia. J Am Soc Nephrol. 2002;13(10):2508-2516.
-
(2002)
J Am Soc Nephrol
, vol.13
, Issue.10
, pp. 2508-2516
-
-
Yoder, B.K.1
Hou, X.2
Guay-Woodford, L.M.3
-
18
-
-
0030909957
-
PKD1 interacts with PKD2 through a probable coiled-coil domain
-
DOI 10.1038/ng0697-179
-
Qian F, Germino FJ, Cai Y, Zhang X, Somlo S, Germino GG. PKD1 interacts with PKD2 through a probable coiled-coil domain. Nat Genet. 1997;16(2):179-183. (Pubitemid 27240617)
-
(1997)
Nature Genetics
, vol.16
, Issue.2
, pp. 179-183
-
-
Qian, F.1
Germino, F.J.2
Cai, Y.3
Zhang, X.4
Somlo, S.5
Germino, G.G.6
-
19
-
-
0037019017
-
Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease
-
DOI 10.1016/S0960-9822(02)00877-1
-
Pazour GJ, San Agustin JT, Follit JA, Rosenbaum JL, Witman GB. Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease. Curr Biol. 2002;12(11):R378-380. (Pubitemid 34689219)
-
(2002)
Current Biology
, vol.12
, Issue.11
-
-
Pazour, G.J.1
San, A.J.T.2
Follit, J.A.3
Rosenbaum, J.L.4
Witman, G.B.5
-
20
-
-
0034700483
-
Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents
-
DOI 10.1038/35050128
-
Hanaoka K, et al. Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents. Nature. 2000;408(6815):990-994. (Pubitemid 32101647)
-
(2000)
Nature
, vol.408
, Issue.6815
, pp. 990-994
-
-
Hanaoka, K.1
Qian, F.2
Boletta, A.3
Bhunia, A.K.4
Piontek, K.5
Tsiokas, L.6
Sukhatme, V.P.7
Guggino, W.B.8
Germino, G.G.9
-
21
-
-
59949104184
-
Characterization of PKD protein- positive exosome-like vesicles
-
Hogan MC, et al. Characterization of PKD protein- positive exosome-like vesicles. J Am Soc Nephrol. 2009;20(2):278-288.
-
(2009)
J Am Soc Nephrol
, vol.20
, Issue.2
, pp. 278-288
-
-
Hogan, M.C.1
-
23
-
-
70350346866
-
Polycystin-1 and -2 dosage regulates pressure sensing
-
Sharif-Naeini R, et al. Polycystin-1 and -2 dosage regulates pressure sensing. Cell. 2009;139(3):587-596.
-
(2009)
Cell
, vol.139
, Issue.3
, pp. 587-596
-
-
Sharif-Naeini, R.1
-
24
-
-
80052153568
-
Polycystin-1 is required for stereocilia structure but not for mechanotransduction in inner ear hair cells
-
Steigelman KA, et al. Polycystin-1 is required for stereocilia structure but not for mechanotransduction in inner ear hair cells. J Neurosci. 2011;31(34):12241-12250.
-
(2011)
J Neurosci
, vol.31
, Issue.34
, pp. 12241-12250
-
-
Steigelman, K.A.1
-
25
-
-
80051923235
-
Association of PKD2 (polycystin 2) mutations with left-right laterality defects
-
Bataille S, et al. Association of PKD2 (polycystin 2) mutations with left-right laterality defects. Am J Kidney Dis. 2011;58(3):456-460.
-
(2011)
Am J Kidney Dis
, vol.58
, Issue.3
, pp. 456-460
-
-
Bataille, S.1
-
26
-
-
50849100989
-
Loss of polycystin-1 causes centrosome amplification and genomic instability
-
Battini L, et al. Loss of polycystin-1 causes centrosome amplification and genomic instability. Hum Mol Genet. 2008;17(18):2819-2833.
-
(2008)
Hum Mol Genet
, vol.17
, Issue.18
, pp. 2819-2833
-
-
Battini, L.1
-
27
-
-
4644367485
-
Calcium restriction allows cAMP activation of the B-Raf/ERK pathway, switching cells to a cAMP-dependent growth-stimulated phenotype
-
DOI 10.1074/jbc.M405079200
-
Yamaguchi T, Wallace DP, Magenheimer BS, Hempson SJ, Grantham JJ, Calvet JP. Calcium restriction allows cAMP activation of the B-Raf/ERK pathway, switching cells to a cAMP-dependent growth-stimulated phenotype. J Biol Chem. 2004;279(39):40419-40430. (Pubitemid 39287631)
-
(2004)
Journal of Biological Chemistry
, vol.279
, Issue.39
, pp. 40419-40430
-
-
Yamaguchi, T.1
Wallace, D.P.2
Magenheimer, B.S.3
Hempson, S.J.4
Grantham, J.J.5
Calvet, J.P.6
-
28
-
-
33644815875
-
Mechanisms of Disease: Autosomal dominant and recessive polycystic kidney diseases
-
DOI 10.1038/ncpneph0070, PII N0070
-
Torres VE, Harris PC. Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases. Nat Clin Pract Nephrol. 2006;2(1):40-55. (Pubitemid 43355244)
-
(2006)
Nature Clinical Practice Nephrology
, vol.2
, Issue.1
, pp. 40-55
-
-
Torres, V.E.1
Harris, P.C.2
-
29
-
-
77954598398
-
Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD
-
Vujic M, et al. Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. J Am Soc Nephrol. 2010;21(7):1097-1102.
-
(2010)
J Am Soc Nephrol
, vol.21
, Issue.7
, pp. 1097-1102
-
-
Vujic, M.1
-
30
-
-
0018187883
-
Hereditary polycystic kidney disease (adult form): A microdissection study of two cases at an early stage of the disease
-
Baert L. Hereditary polycystic kidney disease (adult form): a microdissection study of two cases at an early stage of the disease. Kidney Int. 1978;13(6):519-525. (Pubitemid 8373078)
-
(1978)
Kidney International
, vol.13
, Issue.6
, pp. 519-525
-
-
Baert, L.1
-
31
-
-
80053904548
-
Tolvaptan in autosomal dominant polycystic kidney disease: Three years' experience
-
Higashihara E, et al. Tolvaptan in autosomal dominant polycystic kidney disease: three years' experience. Clin J Am Soc Nephrol. 2011;6(10):2499-2507.
-
(2011)
Clin J Am Soc Nephrol
, vol.6
, Issue.10
, pp. 2499-2507
-
-
Higashihara, E.1
-
32
-
-
1942486801
-
Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease
-
DOI 10.1038/nm1004
-
Torres VE, et al. Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease. Nat Med. 2004;10(4):363-364. (Pubitemid 38508512)
-
(2004)
Nature Medicine
, vol.10
, Issue.4
, pp. 363-364
-
-
Torres, V.E.1
Wang, X.2
Qian, Q.3
Somlo, S.4
Harris, P.C.5
Gattone II, V.H.6
-
33
-
-
58749103869
-
Mouse models of polycystic kidney disease
-
Wilson PD. Mouse models of polycystic kidney disease. Curr Top Dev Biol. 2008;84:311-350.
-
(2008)
Curr Top Dev Biol
, vol.84
, pp. 311-350
-
-
Wilson, P.D.1
-
34
-
-
0032909095
-
Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes [4]
-
DOI 10.1038/5944
-
Lu W, et al. Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes. Nat Genet. 1999;21(2):160-161. (Pubitemid 29070359)
-
(1999)
Nature Genetics
, vol.21
, Issue.2
, pp. 160-161
-
-
Lu, W.1
Fan, X.2
Basora, N.3
Babakhanlou, H.4
Law, T.5
Rifai, N.6
Harris, P.C.7
Perez-, A.A.R.8
Rennke, H.G.9
Zhou, J.10
-
35
-
-
0031252295
-
Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation
-
Lu W, et al. Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation. Nat Genet. 1997;17(2):179-181.
-
(1997)
Nat Genet
, vol.17
, Issue.2
, pp. 179-181
-
-
Lu, W.1
-
36
-
-
36249030528
-
Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice
-
DOI 10.1093/hmg/ddm299
-
Lantinga-van Leeuwen IS, Leonhard WN, van der Wal A, Breuning MH, de Heer E, Peters DJ. Kidney- specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice. Hum Mol Genet. 2007;16(24):3188-3196. (Pubitemid 350131335)
-
(2007)
Human Molecular Genetics
, vol.16
, Issue.24
, pp. 3188-3196
-
-
Lantinga-van, L.I.S.1
Leonhard, W.N.2
Van Der Wal, A.3
Breuning, M.H.4
De Heer, E.5
Peters, D.J.M.6
-
37
-
-
36849037019
-
A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1
-
DOI 10.1038/nm1675, PII NM1675
-
Piontek K, Menezes LF, Garcia-Gonzalez MA, Huso DL, Germino GG. A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1. Nat Med. 2007;13(12):1490-1495. (Pubitemid 350224245)
-
(2007)
Nature Medicine
, vol.13
, Issue.12
, pp. 1490-1495
-
-
Piontek, K.1
Menezes, L.F.2
Garcia-Gonzalez, M.A.3
Huso, D.L.4
Germino, G.G.5
-
38
-
-
57149094707
-
Pkd1 inactivation induced in adulthood produces focal cystic disease
-
Takakura A, Contrino L, Beck AW, Zhou J. Pkd1 inactivation induced in adulthood produces focal cystic disease. J Am Soc Nephrol. 2008;19(12):2351- 2363.
-
(2008)
J Am Soc Nephrol
, vol.19
, Issue.12
, pp. 2351-2363
-
-
Takakura, A.1
Contrino, L.2
Beck, A.W.3
Zhou, J.4
-
39
-
-
44449137071
-
A mouse model for polycystic kidney disease through a somatic in-frame deletion in the 5′ end of Pkd1
-
DOI 10.1038/ki.2008.111, PII KI2008111
-
Starremans PG, et al. A mouse model for polycystic kidney disease through a somatic in-frame deletion in the 5′ end of Pkd1. Kidney Int. 2008; 73(12):1394-1405. (Pubitemid 351770482)
-
(2008)
Kidney International
, vol.73
, Issue.12
, pp. 1394-1405
-
-
Starremans, P.G.1
Li, X.2
Finnerty, P.E.3
Guo, L.4
Takakura, A.5
Neilson, E.G.6
Zhou, J.7
-
40
-
-
30344471203
-
Defining a link with autosomal- dominant polycystic kidney disease in mice with congenitally low expression of Pkd1
-
.Jiang ST, et al. Defining a link with autosomal- dominant polycystic kidney disease in mice with congenitally low expression of Pkd1. Am J Pathol. 2006;168(1):205-220.
-
(2006)
Am J Pathol
, vol.168
, Issue.1
, pp. 205-220
-
-
Jiang, S.T.1
-
41
-
-
19944406428
-
Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease
-
DOI 10.1093/hmg/ddh336
-
Lantinga-van Leeuwen IS, et al. Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease. Hum Mol Genet. 2004;13(24):3069-3077. (Pubitemid 40045261)
-
(2004)
Human Molecular Genetics
, vol.13
, Issue.24
, pp. 3069-3077
-
-
Lantinga-van, L.I.S.1
Dauwerse, J.G.2
Baelde, H.J.3
Leonhard, W.N.4
Van De, W.A.5
Ward, C.J.6
Verbeek, S.7
DeRuiter, M.C.8
Breuning, M.H.9
De Heer, E.10
Peters, D.J.M.11
-
42
-
-
0033537164
-
Comparison of phonotypes of polycystic kidney disease types 1 and 2
-
DOI 10.1016/S0140-6736(98)03495-3
-
Hateboer N, et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. Lancet. 1999;353(9147):103-107. (Pubitemid 29088079)
-
(1999)
Lancet
, vol.353
, Issue.9147
, pp. 103-107
-
-
Hateboer, N.1
Dijk, M.A.V.2
Bogdanova, N.3
Coto, E.4
Saggar-Malik, A.K.5
San, M.J.L.6
Torra, R.7
Breuning, M.8
Ravine, D.9
-
43
-
-
0027279639
-
Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk
-
German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft fuer Padiatrische Nephrologie)
-
Zerres K, Rudnik-Schoneborn S, Deget F. Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft fuer Padiatrische Nephrologie). J Med Genet. 1993;30(7):583-588.
-
(1993)
J Med Genet
, vol.30
, Issue.7
, pp. 583-588
-
-
Zerres, K.1
Rudnik-Schoneborn, S.2
Deget, F.3
-
44
-
-
47549117011
-
Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation
-
DOI 10.1056/NEJMc0801868
-
Bergmann C, Bruchle NO, Frank V, Rehder H, Zerres K. Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation. N Engl J Med. 2008;359(3):318-319. (Pubitemid 352008467)
-
(2008)
New England Journal of Medicine
, vol.359
, Issue.3
, pp. 318-319
-
-
Bergmann, C.1
Bruchle, N.O.2
Frank, V.3
Rehder, H.4
Zerres, K.5
-
45
-
-
56549105426
-
Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome
-
Consugar MB, et al. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int. 2008;74(11):1468-1479.
-
(2008)
Kidney Int
, vol.74
, Issue.11
, pp. 1468-1479
-
-
Consugar, M.B.1
-
46
-
-
16944367389
-
Renal cystic disease in tuberous sclerosis: Role of the polycystic kidney disease 1 gene
-
Sampson JR, et al. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Am J Hum Genet. 1997;61(4):843-851. (Pubitemid 27418458)
-
(1997)
American Journal of Human Genetics
, vol.61
, Issue.4
, pp. 843-851
-
-
Sampson, J.R.1
Maheshwar, M.M.2
Aspinwall, R.3
Thompson, P.4
Cheadle, J.P.5
Ravine, D.6
Roy, S.7
Haan, E.8
Bernstein, J.9
Harris, P.C.10
-
47
-
-
0028051871
-
Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - A contiguous gene syndrome
-
DOI 10.1038/ng1294-328
-
Brook-Carter PT, et al. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - a contiguous gene syndrome. Nat Genet. 1994;8(4):328-332. (Pubitemid 24375596)
-
(1994)
Nature Genetics
, vol.8
, Issue.4
, pp. 328-332
-
-
Brook-Carter, P.T.1
Peral, B.2
Ward, C.J.3
Thompson, P.4
Hughes, J.5
Maheshwar, M.M.6
Nellist, M.7
Gamble, V.8
Harris, P.C.9
Sampson, J.R.10
-
48
-
-
0035125616
-
Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease
-
DOI 10.1086/318188
-
Pei Y, et al. Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. Am J Hum Genet. 2001;68(2):355-363. (Pubitemid 32147805)
-
(2001)
American Journal of Human Genetics
, vol.68
, Issue.2
, pp. 355-363
-
-
Pei, Y.1
Paterson, A.D.2
Kai, R.W.3
He, N.4
Hefferton, D.5
Watnick, T.6
Germino, G.G.7
Parfrey, P.8
Somlo, S.9
St. G.-Hyslop, P.10
-
49
-
-
37549071892
-
Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation
-
Connor A, et al. Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation. Am J Transplant. 2008;8(1):232-237.
-
(2008)
Am J Transplant
, vol.8
, Issue.1
, pp. 232-237
-
-
Connor, A.1
-
50
-
-
77954596742
-
What is the role of somatic mutation in autosomal dominant polycystic kidney disease?
-
Harris PC. What is the role of somatic mutation in autosomal dominant polycystic kidney disease? J Am Soc Nephrol. 2010;21(7):1073-1076.
-
(2010)
J Am Soc Nephrol
, vol.21
, Issue.7
, pp. 1073-1076
-
-
Harris, P.C.1
-
51
-
-
0037098955
-
Pioglitazone improves the phenotype and molecular defects of a targeted Pkd1 mutant
-
Muto S, et al. Pioglitazone improves the phenotype and molecular defects of a targeted Pkd1 mutant. Hum Mol Genet. 2002;11(15):1731-1742. (Pubitemid 34812094)
-
(2002)
Human Molecular Genetics
, vol.11
, Issue.15
, pp. 1731-1742
-
-
Muto, S.1
Aiba, A.2
Saito, Y.3
Nakao, K.4
Nakamura, K.5
Tomita, K.6
Kitamura, T.7
Kurabayashi, M.8
Nagai, R.9
Higashihara, E.10
Harris, P.C.11
Katsuki, M.12
Horie, S.13
-
52
-
-
0036283965
-
Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease
-
DOI 10.1053/ajkd.2002.33908
-
.Paterson AD, Wang KR, Lupea D, St George-Hyslop P, Pei Y. Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2002;40(1):16-20. (Pubitemid 34701206)
-
(2002)
American Journal of Kidney Diseases
, vol.40
, Issue.1
, pp. 16-20
-
-
Paterson, A.D.1
Wang, K.R.2
Lupea, D.3
St. G.-Hyslop, P.4
Pei, Y.5
-
53
-
-
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. 1997;99(2):194-199. (Pubitemid 27053988)
-
(1997)
Journal of Clinical Investigation
, vol.99
, Issue.2
, pp. 194-199
-
-
Brasier, J.L.1
Henske, E.P.2
-
54
-
-
0030582668
-
The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I
-
DOI 10.1016/S0092-8674(00)81793-6
-
Qian F, Watnick TJ, Onuchic LF, Germino GG. The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. Cell. 1996;87(6):979-987. (Pubitemid 26427982)
-
(1996)
Cell
, vol.87
, Issue.6
, pp. 979-987
-
-
Qian, F.1
Watnick, T.J.2
Onuchic, L.F.3
Germino, G.G.4
-
55
-
-
0033033706
-
Somatic PKD2 mutations in individual kidney and liver cysts support a 'two-hit' model of cystogenesis in type 2 autosomal dominant polycystic kidney disease
-
Pei Y, et al. Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 1999;10(7):1524-1529. (Pubitemid 29297527)
-
(1999)
Journal of the American Society of Nephrology
, vol.10
, Issue.7
, pp. 1524-1529
-
-
Pei, Y.1
Watnick, T.2
He, N.3
Wang, K.4
Liang, Y.5
Parfrey, P.6
Germino, G.7
St. G.-Hyslop, P.8
-
56
-
-
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 Deltas C. Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease. Hum Mol Genet. 1999;8(3):509-513. (Pubitemid 29097339)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.3
, pp. 509-513
-
-
Koptides, M.1
Hadjimichael, C.2
Koupepidou, P.3
Pierides, A.4
Deltas, C.C.5
-
57
-
-
0032540226
-
Somatic inactivation of Pkd2 results in polycystic kidney disease
-
DOI 10.1016/S0092-8674(00)81570-6
-
Wu G, et al. Somatic inactivation of Pkd2 results in polycystic kidney disease. Cell. 1998;93(2):177-188. (Pubitemid 28180852)
-
(1998)
Cell
, vol.93
, Issue.2
, 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 Jr., H.9
Kucherlapati, R.10
Edelmann, W.11
Somlo, S.12
-
58
-
-
57649130595
-
Polycystin-2 expression is regulated by a PC2-binding domain in the intracellular portion of fibrocystin
-
Kim I, et al. Polycystin-2 expression is regulated by a PC2-binding domain in the intracellular portion of fibrocystin. J Biol Chem. 2008;283(46):31559-31566.
-
(2008)
J Biol Chem
, vol.283
, Issue.46
, pp. 31559-31566
-
-
Kim, I.1
-
59
-
-
63949086532
-
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease
-
Rossetti S, et al. Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Kidney Int. 2009;75(8):848-855.
-
(2009)
Kidney Int
, vol.75
, Issue.8
, pp. 848-855
-
-
Rossetti, S.1
-
60
-
-
84863081434
-
A missense mutation in PKD1 attenuates the severity of renal disease
-
Pei Y, et al. A missense mutation in PKD1 attenuates the severity of renal disease. Kidney Int. 2012;4(4):412-417.
-
(2012)
Kidney Int
, vol.4
, Issue.4
, pp. 412-417
-
-
Pei, Y.1
-
61
-
-
84856019824
-
Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy
-
Losekoot M, et al. Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy. J Med Genet. 2012;49(1):37-40.
-
(2012)
J Med Genet
, vol.49
, Issue.1
, pp. 37-40
-
-
Losekoot, M.1
-
62
-
-
80555136788
-
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease
-
Bergmann C, et al. Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. J Am Soc Nephrol. 2011;22(11):2047-2056.
-
(2011)
J Am Soc Nephrol
, vol.22
, Issue.11
, pp. 2047-2056
-
-
Bergmann, C.1
-
63
-
-
0037352031
-
A highly efficient recombineering-based method for generating conditional knockout mutations
-
DOI 10.1101/gr.749203
-
Liu P, Jenkins NA, Copeland NG. A highly efficient recombineering-based method for generating conditional knockout mutations. Genome Res. 2003;13(3):476-484. (Pubitemid 36395405)
-
(2003)
Genome Research
, vol.13
, Issue.3
, pp. 476-484
-
-
Liu, P.1
Jenkins, N.A.2
Copeland, N.G.3
-
64
-
-
0027382154
-
Volume changes in autosomal dominant polycystic kidneys after the initiation of hemodialysis [9]
-
Ishikawa I, Saito Y. Volume changes in autosomal dominant polycystic kidneys after the initiation of hemodialysis. Nephron. 1993;65(4):649-650. (Pubitemid 23341529)
-
(1993)
Nephron
, vol.65
, Issue.4
, pp. 649-650
-
-
Ishikawa, I.1
Saito, Y.2
-
65
-
-
80052268964
-
Fibrosis and progression of autosomal dominant polycystic kidney disease (ADPKD)
-
Norman J. Fibrosis and progression of autosomal dominant polycystic kidney disease (ADPKD). Biochim Biophys Acta. 2011;1812(10):1327-1336.
-
(2011)
Biochim Biophys Acta
, vol.1812
, Issue.10
, pp. 1327-1336
-
-
Norman, J.1
-
66
-
-
0142073812
-
Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist
-
Gattone VH. Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist. Nat Med. 2003;9(10):1323-1326.
-
(2003)
Nat Med
, vol.9
, Issue.10
, pp. 1323-1326
-
-
Gattone, V.H.1
-
67
-
-
33749235323
-
Development of polycystic kidney disease in juvenile cystic kidney mice: Insights into pathogenesis, ciliary abnormalities, and common features with human disease
-
DOI 10.1681/ASN.2006020136
-
Smith LA, et al. Development of polycystic kidney disease in juvenile cystic kidney mice: insights into pathogenesis, ciliary abnormalities, and common features with human disease. J Am Soc Nephrol. 2006;17(10):2821-2831. (Pubitemid 44484672)
-
(2006)
Journal of the American Society of Nephrology
, vol.17
, Issue.10
, pp. 2821-2831
-
-
Smith, L.A.1
Bukanov, N.O.2
Husson, H.3
Russo, R.J.4
Barry, T.C.5
Taylor, A.L.6
Beier, D.R.7
Ibraghimov-Beskrovnaya, O.8
-
68
-
-
56849113217
-
Age-related reference intervals of the main biochemical and hematological parameters in C57BL/6J, 129SV/EV and C3H/HeJ mouse strains
-
Mazzaccara C, et al. Age-related reference intervals of the main biochemical and hematological parameters in C57BL/6J, 129SV/EV and C3H/HeJ mouse strains. PLoS One. 2008;3(11):e3772.
-
(2008)
PLoS One
, vol.3
, Issue.11
-
-
Mazzaccara, C.1
-
69
-
-
33847239212
-
Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: The Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort
-
Bae KT, et al. Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort. Clin J Am Soc Nephrol. 2006;1(1):64-69.
-
(2006)
Clin J Am Soc Nephrol
, vol.1
, Issue.1
, pp. 64-69
-
-
Bae, K.T.1
-
70
-
-
0022625484
-
Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe
-
Reeders ST, et al. Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe. Lancet. 1986;2(8497):6-8.
-
(1986)
Lancet
, vol.2
, Issue.8497
, pp. 6-8
-
-
Reeders, S.T.1
-
71
-
-
74049138304
-
Conditional disruption of Pkd1 in osteoblasts results in osteopenia due to direct impairment of bone formation
-
Xiao Z, Zhang S, Cao L, Qiu N, David V, Quarles LD. Conditional disruption of Pkd1 in osteoblasts results in osteopenia due to direct impairment of bone formation. J Biol Chem. 2010;285(2):1177-1187.
-
(2010)
J Biol Chem
, vol.285
, Issue.2
, pp. 1177-1187
-
-
Xiao, Z.1
Zhang, S.2
Cao, L.3
Qiu, N.4
David, V.5
Quarles, L.D.6
-
72
-
-
0035834136
-
Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene
-
DOI 10.1073/pnas.211191098
-
Boulter C, Mulroy S, Webb S, Fleming S, Brindle K, Sandford R. Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene. Proc Natl Acad Sci U S A. 2001;98(21):12174-12179. (Pubitemid 32959846)
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, Issue.21
, pp. 12174-12179
-
-
Boulter, C.1
Mulroy, S.2
Webb, S.3
Fleming, S.4
Brindle, K.5
Sandford, R.6
-
73
-
-
0030732925
-
Left ventricular hypertrophy in autosomal dominant polycystic kidney disease
-
Chapman AB, Johnson AM, Rainguet S, Hossack K, Gabow P, Schrier RW. Left ventricular hypertrophy in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 1997;8(8):1292-1297. (Pubitemid 27493634)
-
(1997)
Journal of the American Society of Nephrology
, vol.8
, Issue.8
, pp. 1292-1297
-
-
Chapman, A.B.1
Johnson, A.M.2
Rainguet, S.3
Hossack, K.4
Gabow, P.5
Schrier, R.W.6
-
74
-
-
0024543421
-
Lectin peroxidase conjugate reactivity in acquired cystic disease of the kidney
-
Ishikawa I, Horiguchi T, Shikura N. Lectin peroxidase conjugate reactivity in acquired cystic disease of the kidney. Nephron. 1989;51(2):211-214. (Pubitemid 19037694)
-
(1989)
Nephron
, vol.51
, Issue.2
, pp. 211-214
-
-
Ishikawa, I.1
Horiguchi, T.2
Shikura, N.3
-
75
-
-
0026096188
-
Acquired cystic disease of the kidney analyzed by microdissection
-
Vandeursen H, Van Damme B, Baert J, Baert L. Acquired cystic disease of the kidney analyzed by microdissection. J Urol. 1991;146(4):1168-1172.
-
(1991)
J Urol
, vol.146
, Issue.4
, pp. 1168-1172
-
-
Vandeursen, H.1
Van Damme, B.2
Baert, J.3
Baert, L.4
-
76
-
-
0034121514
-
Proximal tubular cysts in fetal human autosomal recessive polycystic kidney disease
-
Nakanishi K, Sweeney WE Jr, Zerres K, Guay-Woodford LM, Avner ED. Proximal tubular cysts in fetal human autosomal recessive polycystic kidney disease. J Am Soc Nephrol. 2000;11(4):760-763. (Pubitemid 30171886)
-
(2000)
Journal of the American Society of Nephrology
, vol.11
, Issue.4
, pp. 760-763
-
-
Nakanishi, K.1
Sweeney Jr., W.E.2
Zerres, K.3
Guay-Woodford, L.M.4
Avner, E.D.5
-
77
-
-
77950256964
-
Glomerular and proximal tubule cysts as early manifestations of Pkd1 deletion
-
Ahrabi AK, et al. Glomerular and proximal tubule cysts as early manifestations of Pkd1 deletion. Nephrol Dial Transplant. 2010;25(4):1067-1078.
-
(2010)
Nephrol Dial Transplant
, vol.25
, Issue.4
, pp. 1067-1078
-
-
Ahrabi, A.K.1
-
78
-
-
38149005366
-
Vasopressin directly regulates cyst growth in polycystic kidney disease
-
Wang X, Wu Y, Ward CJ, Harris PC, Torres VE. Vasopressin directly regulates cyst growth in polycystic kidney disease. J Am Soc Nephrol. 2008;19(1):102-108.
-
(2008)
J Am Soc Nephrol
, vol.19
, Issue.1
, pp. 102-108
-
-
Wang, X.1
Wu, Y.2
Ward, C.J.3
Harris, P.C.4
Torres, V.E.5
-
79
-
-
77749264267
-
Hepato-renal pathology in Pkd2 ws25/- Mice, an animal model of autosomal dominant polycystic kidney disease
-
Stroope A, et al. Hepato-renal pathology in Pkd2 ws25/- mice, an animal model of autosomal dominant polycystic kidney disease. Am J Pathol. 2010;176(3):1282-1291.
-
(2010)
Am J Pathol
, vol.176
, Issue.3
, pp. 1282-1291
-
-
Stroope, A.1
-
80
-
-
74449086803
-
Identification of signaling pathways regulating primary cilium length and flow-mediated adaptation
-
Besschetnova TY, Kolpakova-Hart E, Guan Y, Zhou J, Olsen BR, Shah JV. Identification of signaling pathways regulating primary cilium length and flow-mediated adaptation. Curr Biol. 2010;20(2):182-187.
-
(2010)
Curr Biol
, vol.20
, Issue.2
, pp. 182-187
-
-
Besschetnova, T.Y.1
Kolpakova-Hart, E.2
Guan, Y.3
Zhou, J.4
Olsen, B.R.5
Shah, J.V.6
-
81
-
-
66449122451
-
Attenuated, flow-induced ATP release contributes to absence of flow-sensitive, purinergic Cai2+ signaling in human ADPKD cyst epithelial cells
-
Xu C, et al. Attenuated, flow-induced ATP release contributes to absence of flow-sensitive, purinergic Cai2+ signaling in human ADPKD cyst epithelial cells. Am J Physiol Renal Physiol. 2009;296(6):F1464-F1476.
-
(2009)
Am J Physiol Renal Physiol
, vol.296
, Issue.6
-
-
Xu, C.1
-
82
-
-
0029069583
-
The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains
-
Hughes J, et al. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet. 1995;10(2):151-160.
-
(1995)
Nat Genet
, vol.10
, Issue.2
, pp. 151-160
-
-
Hughes, J.1
-
83
-
-
0037168674
-
Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations
-
DOI 10.1073/pnas.252484899
-
Qian F, et al. Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations. Proc Natl Acad Sci U S A. 2002;99(26):16981- 16986. (Pubitemid 36034084)
-
(2002)
Proceedings of the National Academy of Sciences of the United States of America
, vol.99
, Issue.26
, pp. 16981-16986
-
-
Qian, F.1
Boletta, A.2
Bhunia, A.K.3
Xu, H.4
Liu, L.5
Ahrabi, A.K.6
Watnick, T.J.7
Zhou, F.8
Germino, G.G.9
-
84
-
-
0037036350
-
Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex
-
DOI 10.1074/jbc.M107788200
-
Newby LJ, Streets AJ, Zhao Y, Harris PC, Ward CJ, Ong AC. Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex. J Biol Chem. 2002;277(23):20763-20773. (Pubitemid 34967382)
-
(2002)
Journal of Biological Chemistry
, vol.277
, Issue.23
, pp. 20763-20773
-
-
Newby, L.J.1
Streets, A.J.2
Zhao, Y.3
Harris, P.C.4
Ward, C.J.5
Ong, A.C.M.6
-
85
-
-
66049115017
-
Role of N-glycosylation in trafficking of apical membrane proteins in epithelia
-
Vagin O, Kraut JA, Sachs G. Role of N-glycosylation in trafficking of apical membrane proteins in epithelia. Am J Physiol Renal Physiol. 2009;296(3):F459-F469.
-
(2009)
Am J Physiol Renal Physiol
, vol.296
, Issue.3
-
-
Vagin, O.1
Kraut, J.A.2
Sachs, G.3
-
86
-
-
53849149321
-
Chemical and biological folding contribute to temperature-sensitive DeltaF508 CFTR trafficking
-
Wang X, Koulov AV, Kellner WA, Riordan JR, Balch WE. Chemical and biological folding contribute to temperature-sensitive DeltaF508 CFTR trafficking. Traffic. 2008;9(11):1878-1893.
-
(2008)
Traffic
, vol.9
, Issue.11
, pp. 1878-1893
-
-
Wang, X.1
Koulov, A.V.2
Kellner, W.A.3
Riordan, J.R.4
Balch, W.E.5
-
87
-
-
77956553281
-
Genetic variation of DKK3 may modify renal disease severity in ADPKD
-
Liu M, et al. Genetic variation of DKK3 may modify renal disease severity in ADPKD. J Am Soc Nephrol. 2010;21(9):1510-1520.
-
(2010)
J Am Soc Nephrol
, vol.21
, Issue.9
, pp. 1510-1520
-
-
Liu, M.1
-
88
-
-
33750689517
-
Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease
-
DOI 10.1681/ASN.2006080835
-
Harris PC, et al. Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2006;17(11):3013-3019. (Pubitemid 44707761)
-
(2006)
Journal of the American Society of Nephrology
, vol.17
, Issue.11
, pp. 3013-3019
-
-
Harris, P.C.1
Bae, K.T.2
Rossetti, S.3
Torres, V.E.4
Grantham, J.J.5
Chapman, A.B.6
Guay-Woodford, L.M.7
King, B.F.8
Wetzel, L.H.9
Baumgarten, D.A.10
Kenney, P.J.11
Consugar, M.12
Klahr, S.13
Bennett, W.M.14
Meyers, C.M.15
Zhang, Q.16
Thompson, P.A.17
Zhu, F.18
Miller, J.P.19
-
89
-
-
34248180073
-
Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease
-
DOI 10.1681/ASN.2007010125
-
Rossetti S, Harris PC. Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease. J Am Soc Nephrol. 2007;18(5):1374-1380. (Pubitemid 46717503)
-
(2007)
Journal of the American Society of Nephrology
, vol.18
, Issue.5
, pp. 1374-1380
-
-
Rossetti, S.1
Harris, P.C.2
-
90
-
-
77958016655
-
Progressive renal distortion by multiple cysts in transgenic mice expressing artificial microRNAs against Pkd1
-
Wang E, et al. Progressive renal distortion by multiple cysts in transgenic mice expressing artificial microRNAs against Pkd1. J Pathol. 2010;222(3):238-248.
-
(2010)
J Pathol
, vol.222
, Issue.3
, pp. 238-248
-
-
Wang, E.1
-
91
-
-
45549094416
-
The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus
-
DOI 10.1089/gte.2008.0002
-
Li D, et al. The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus. Genet Test. 2008;12(2):325-330. (Pubitemid 351860454)
-
(2008)
Genetic Testing
, vol.12
, Issue.2
, pp. 325-330
-
-
Li, D.1
Yu, J.2
Gu, F.3
Pang, X.4
Ma, X.5
Li, R.6
Liu, N.7
Ma, X.8
-
92
-
-
0028354750
-
Phenotypic variability and incomplete penetrance of spontaneous fractures in an inbred strain of transgenic mice expressing a mutated collagen gene (COL1A1)
-
Pereira R, Halford K, Sokolov BP, Khillan JS, Prockop DJ. Phenotypic variability and incomplete penetrance of spontaneous fractures in an inbred strain of transgenic mice expressing a mutated collagen gene (COL1A1). J Clin Invest. 1994;93(4):1765-1769. (Pubitemid 24116419)
-
(1994)
Journal of Clinical Investigation
, vol.93
, Issue.4
, pp. 1765-1769
-
-
Pereira, R.1
Halford, K.2
Sokolov, B.P.3
Khillan, J.S.4
Prockop, D.J.5
-
93
-
-
0031598463
-
Cell proliferation in the developing human kidney
-
Nadasdy T, Lajoie G, Laszik Z, Blick KE, Molnar- Nadasdy G, Silva FG. Cell proliferation in the developing human kidney. Pediatr Dev Pathol. 1998;1(1):49-55. (Pubitemid 128542111)
-
(1998)
Pediatric and Developmental Pathology
, vol.1
, Issue.1
, pp. 49-55
-
-
Nadasdy, T.1
Lajoie, G.2
Laszik, Z.3
Blick, K.E.4
Molnar-Nadasdy, G.5
Silva, F.G.6
-
94
-
-
0028456132
-
Proliferative activity of intrinsic cell populations in the normal human kidney
-
Nadasdy T, Laszik Z, Blick KE, Johnson LD, Silva FG. Proliferative activity of intrinsic cell populations in the normal human kidney. J Am Soc Nephrol. 1994;4(12):2032-2039.
-
(1994)
J Am Soc Nephrol
, vol.4
, Issue.12
, pp. 2032-2039
-
-
Nadasdy, T.1
Laszik, Z.2
Blick, K.E.3
Johnson, L.D.4
Silva, F.G.5
-
95
-
-
77952314993
-
Evidence of extraordinary growth in the progressive enlargement of renal cysts
-
Grantham JJ, Cook LT, Wetzel LH, Cadnapaphornchai MA, Bae KT. Evidence of extraordinary growth in the progressive enlargement of renal cysts. Clin J Am Soc Nephrol. 2010;5(5):889-896.
-
(2010)
Clin J Am Soc Nephrol
, vol.5
, Issue.5
, pp. 889-896
-
-
Grantham, J.J.1
Cook, L.T.2
Wetzel, L.H.3
Cadnapaphornchai, M.A.4
Bae, K.T.5
-
96
-
-
72049098241
-
Pkd1 haploinsufficiency increases renal damage and induces microcyst formation following ischemia/reperfusion
-
Bastos AP, et al. Pkd1 haploinsufficiency increases renal damage and induces microcyst formation following ischemia/reperfusion. J Am Soc Nephrol. 2009;20(11):2389-2402.
-
(2009)
J Am Soc Nephrol
, vol.20
, Issue.11
, pp. 2389-2402
-
-
Bastos, A.P.1
-
97
-
-
16844375093
-
Pkd1 regulates immortalized proliferation of renal tubular epithelial cells through p53 induction and JNK activation
-
DOI 10.1172/JCI200522850
-
Nishio S, et al. Pkd1 regulates immortalized proliferation of renal tubular epithelial cells through p53 induction and JNK activation. J Clin Invest. 2005;115(4):910-918. (Pubitemid 40489395)
-
(2005)
Journal of Clinical Investigation
, vol.115
, Issue.4
, pp. 910-918
-
-
Nishio, S.1
Hatano, M.2
Nagata, M.3
Horie, S.4
Koike, T.5
Tokuhisa, T.6
Mochizuki, T.7
-
98
-
-
77249114260
-
Variability in gene expression underlies incomplete penetrance
-
Raj A, Rifkin SA, Andersen E, van Oudenaarden A. Variability in gene expression underlies incomplete penetrance. Nature. 2010;463(7283):913-918.
-
(2010)
Nature
, vol.463
, Issue.7283
, pp. 913-918
-
-
Raj, A.1
Rifkin, S.A.2
Andersen, E.3
Van Oudenaarden, A.4
-
99
-
-
42449110394
-
Renal cilia display length alterations following tubular injury and are present early in epithelial repair
-
DOI 10.1093/ndt/gfm743
-
Verghese E, Weidenfeld R, Bertram JF, Ricardo SD, Deane JA. Renal cilia display length alterations following tubular injury and are present early in epithelial repair. Nephrol Dial Transplant. 2008;23(3):834-841. (Pubitemid 351767580)
-
(2008)
Nephrology Dialysis Transplantation
, vol.23
, Issue.3
, pp. 834-841
-
-
Verghese, E.1
Weidenfeld, R.2
Bertram, J.F.3
Ricardo, S.D.4
Deane, J.A.5
-
100
-
-
84865043909
-
Primary cilia elongation in response to interleukin-1 mediates the inflammatory response
-
Wann AK, Knight MM. Primary cilia elongation in response to interleukin-1 mediates the inflammatory response. Cell Mol Life Sci. 2012;69(17):2967-2977.
-
(2012)
Cell Mol Life Sci
, vol.69
, Issue.17
, pp. 2967-2977
-
-
Wann, A.K.1
Knight, M.M.2
-
101
-
-
33646678189
-
Volume progression in polycystic kidney disease
-
DOI 10.1056/NEJMoa054341
-
Grantham JJ, et al. Volume progression in polycystic kidney disease. N Engl J Med. 2006;354(20):2122-2130. (Pubitemid 43736612)
-
(2006)
New England Journal of Medicine
, vol.354
, Issue.20
, pp. 2122-2130
-
-
Grantham, J.J.1
Torres, V.E.2
Chapman, A.B.3
Guay-Woodford, L.M.4
Bae, K.T.5
King Jr., B.F.6
Wetzel, L.H.7
Baumgarten, D.A.8
Kenney, P.J.9
Harris, P.C.10
Klahr, S.11
Bennett, W.M.12
Hirschman, G.N.13
Meyers, C.M.14
Zhang, X.15
Zhu, F.16
Miller, J.P.17
-
102
-
-
79959725455
-
A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation
-
Fedeles SV, et al. A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation. Nat Genet. 2011;43(7):639-647.
-
(2011)
Nat Genet
, vol.43
, Issue.7
, pp. 639-647
-
-
Fedeles, S.V.1
-
103
-
-
80052384258
-
Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma
-
Zode GS, et al. Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma. J Clin Invest. 2011;121(9):3542-3553.
-
(2011)
J Clin Invest
, vol.121
, Issue.9
, pp. 3542-3553
-
-
Zode, G.S.1
-
104
-
-
82655181482
-
Epitope-Tagged Pkhd1 tracks the processing, secretion, and localization of fibrocystin
-
Bakeberg JL, et al. Epitope-Tagged Pkhd1 tracks the processing, secretion, and localization of fibrocystin. J Am Soc Nephrol. 2011;22(12):2266-2277.
-
(2011)
J Am Soc Nephrol
, vol.22
, Issue.12
, pp. 2266-2277
-
-
Bakeberg, J.L.1
-
105
-
-
0035701003
-
Tissue-specific expression and Splicing of the rat polycystic kidney disease 1 gene
-
Xu H, Shen J, Walker CL, Kleymenova E. Tissue-specific expression and splicing of the rat polycystic kidney disease 1 gene. DNA Seq. 2001;12(5-6):361-366. (Pubitemid 34103176)
-
(2001)
DNA Sequence - Journal of DNA Sequencing and Mapping
, vol.12
, Issue.5-6
, pp. 361-366
-
-
Xu, H.1
Shen, J.2
Walker, C.L.3
Kleymenova, E.4
-
106
-
-
70349731660
-
Inhibition of tumor growth progression by antiandrogens and mTOR inhibitor in a Pten-deficient mouse model of prostate cancer
-
Zhang W, et al. Inhibition of tumor growth progression by antiandrogens and mTOR inhibitor in a Pten-deficient mouse model of prostate cancer. Cancer Res. 2009;69(18):7466-7472.
-
(2009)
Cancer Res
, vol.69
, Issue.18
, pp. 7466-7472
-
-
Zhang, W.1
-
107
-
-
0034858092
-
A combined SEM and TEM study on the basal labyrinth of the collecting duct in the rat kidney
-
Fukudome H. A combined SEM and TEM study on the basal labyrinth of the collecting duct in the rat kidney. Arch Histol Cytol. 2001;64(3):339-351. (Pubitemid 32847604)
-
(2001)
Archives of Histology and Cytology
, vol.64
, Issue.3
, pp. 339-351
-
-
Fukudome, H.1
-
108
-
-
0242675939
-
Transmembrane Domain Analysis of Polycystin-1, the Product of the Polycystic Kidney Disease-1 (PKD1) Gene: Evidence for 11 Membrane-Spanning Domains
-
DOI 10.1021/bi035074c
-
Nims N, Vassmer D, Maser RL. Transmembrane domain analysis of polycystin-1, the product of the polycystic kidney disease-1 (PKD1) gene: evidence for 11 membrane-spanning domains. Biochemistry. 2003;42(44):13035- 13048. (Pubitemid 37385836)
-
(2003)
Biochemistry
, vol.42
, Issue.44
, pp. 13035-13048
-
-
Nims, N.1
Vassmer, D.2
Maser, R.L.3
|