-
1
-
-
0031972263
-
Autosomal recessive polycystic kidney disease
-
Zerres K, Rudnik-Schoneborn S, Steinkamm C, Becker J, Mucher G: Autosomal recessive polycystic kidney disease. J Mol Med 76: 303-309, 1998
-
(1998)
J Mol Med
, vol.76
, pp. 303-309
-
-
Zerres, K.1
Rudnik-Schoneborn, S.2
Steinkamm, C.3
Becker, J.4
Mucher, G.5
-
2
-
-
0027621009
-
Autosomal recessive polycystic kidney disease: Issues regarding the variability of clinical presentation
-
Shaikewitz ST, Chapman A: Autosomal recessive polycystic kidney disease: Issues regarding the variability of clinical presentation. J Am Soc Nephrol 3: 1858-1862, 1993
-
(1993)
J Am Soc Nephrol
, vol.3
, pp. 1858-1862
-
-
Shaikewitz, S.T.1
Chapman, A.2
-
3
-
-
0030957715
-
Autosomal recessive polycystic kidney disease: Long-term outcome of neonatal survivors
-
Roy S, Dillon MJ, Trompeter RS, Barratt TM: Autosomal recessive polycystic kidney disease: Long-term outcome of neonatal survivors. Pediatr Nephrol 11: 302-306, 1997
-
(1997)
Pediatr Nephrol
, vol.11
, pp. 302-306
-
-
Roy, S.1
Dillon, M.J.2
Trompeter, R.S.3
Barratt, T.M.4
-
4
-
-
0024546662
-
Autosomal recessive polycystic kidney disease
-
Kaplan BS, Fay J, Shah V, Dillon MJ, Barratt TM: Autosomal recessive polycystic kidney disease. Pediatr Nephrol 3: 43-49, 1989
-
(1989)
Pediatr Nephrol
, vol.3
, pp. 43-49
-
-
Kaplan, B.S.1
Fay, J.2
Shah, V.3
Dillon, M.J.4
Barratt, T.M.5
-
5
-
-
0023705784
-
Dominant and recessive polycystic kidney disease in children: Evaluation of clinical features and laboratory data
-
Kaariainen H, Koskimies O, Norio R: Dominant and recessive polycystic kidney disease in children: Evaluation of clinical features and laboratory data. Pediatr Nephrol 2: 296-302, 1988
-
(1988)
Pediatr Nephrol
, vol.2
, pp. 296-302
-
-
Kaariainen, H.1
Koskimies, O.2
Norio, R.3
-
6
-
-
0034865003
-
Autosomal recessive polycystic kidney disease in adulthood
-
Fonck C, Chauveau D, Gagnadoux MF, Pirson Y, Grunfeld JP: Autosomal recessive polycystic kidney disease in adulthood. Nephrol Dial Transplant 16: 1648-1652, 2001
-
(2001)
Nephrol Dial Transplant
, vol.16
, pp. 1648-1652
-
-
Fonck, C.1
Chauveau, D.2
Gagnadoux, M.F.3
Pirson, Y.4
Grunfeld, J.P.5
-
7
-
-
0015086440
-
Infantile polycystic disease of the kidneys and liver: Clinical, pathological and radiological correlations and comparison with congenital hepatic fibrosis
-
Lieberman E, Salinas-Madrigal L, Gwinn JL, Brennan LP, Fine RN, Landing BH: Infantile polycystic disease of the kidneys and liver: Clinical, pathological and radiological correlations and comparison with congenital hepatic fibrosis. Medicine (Baltimore) 50: 277-318, 1971
-
(1971)
Medicine (Baltimore)
, vol.50
, pp. 277-318
-
-
Lieberman, E.1
Salinas-Madrigal, L.2
Gwinn, J.L.3
Brennan, L.P.4
Fine, R.N.5
Landing, B.H.6
-
8
-
-
0036707893
-
Genetics and pathogenesis of polycystic kidney disease
-
Igarashi P, Somlo S: Genetics and pathogenesis of polycystic kidney disease. J Am Soc Nephrol 13: 2384-2398, 2002
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 2384-2398
-
-
Igarashi, P.1
Somlo, S.2
-
9
-
-
0025234303
-
Polycystic disease of the kidney: Evaluation and classification based on nephron segment and cell-type specific markers
-
Holthofer H, Kumpulainen T, Rapola J: Polycystic disease of the kidney: Evaluation and classification based on nephron segment and cell-type specific markers. Lab Invest 62: 363-369, 1990
-
(1990)
Lab Invest
, vol.62
, pp. 363-369
-
-
Holthofer, H.1
Kumpulainen, T.2
Rapola, J.3
-
10
-
-
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 11: 760-763, 2000
-
(2000)
J Am Soc Nephrol
, vol.11
, pp. 760-763
-
-
Nakanishi, K.1
Sweeney Jr., W.E.2
Zerres, K.3
Guay-Woodford, L.M.4
Avner, E.D.5
-
11
-
-
12244300887
-
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)
-
Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, Rudnik-Schneborn S, Furu L, Onuchic LF, De Baca M, Germino GG, Guay-Woodford L, Somlo S, Moser M, Buttner R, Zerres K: Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). J Am Soc Nephrol 14: 76-89, 2003
-
(2003)
J Am Soc Nephrol
, vol.14
, pp. 76-89
-
-
Bergmann, C.1
Senderek, J.2
Sedlacek, B.3
Pegiazoglou, I.4
Puglia, P.5
Eggermann, T.6
Rudnik-Schneborn, S.7
Furu, L.8
Onuchic, L.F.9
De Baca, M.10
Germino, G.G.11
Guay-Woodford, L.12
Somlo, S.13
Moser, M.14
Buttner, R.15
Zerres, K.16
-
12
-
-
0036509712
-
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
-
Ward CJ, Hogan MC, Rossetti S, Walker D, Sneddon T, Wang X, Kubly V, Cunningham JM, Bacallao R, Ishibashi M, Milliner DS, Torres VE, Harris PC: The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet 30: 259-269, 2002
-
(2002)
Nat Genet
, vol.30
, pp. 259-269
-
-
Ward, C.J.1
Hogan, M.C.2
Rossetti, S.3
Walker, D.4
Sneddon, T.5
Wang, X.6
Kubly, V.7
Cunningham, J.M.8
Bacallao, R.9
Ishibashi, M.10
Milliner, D.S.11
Torres, V.E.12
Harris, P.C.13
-
13
-
-
18344366124
-
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel β-helix 1 repeats
-
Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Rudnik-Schoneborn S, Mrug M, Sweeney W, Avner ED, Zerres K, Guay-Woodford LM, Somlo S, Germino GG: PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel β-helix 1 repeats. Am J Hum Genet 70: 1305-1317, 2002
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1305-1317
-
-
Onuchic, L.F.1
Furu, L.2
Nagasawa, Y.3
Hou, X.4
Eggermann, T.5
Ren, Z.6
Bergmann, C.7
Senderek, J.8
Esquivel, E.9
Zeltner, R.10
Rudnik-Schoneborn, S.11
Mrug, M.12
Sweeney, W.13
Avner, E.D.14
Zerres, K.15
Guay-Woodford, L.M.16
Somlo, S.17
Germino, G.G.18
-
14
-
-
0036286964
-
A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease
-
Xiong H, Chen Y, Yi Y, Tsuchiya K, Moeckel G, Cheung J, Liang D, Tham K, Xu X, Chen XZ, Pei Y, Zhao ZJ, Wu G: A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease. Genomics 80: 96-104, 2002
-
(2002)
Genomics
, vol.80
, pp. 96-104
-
-
Xiong, H.1
Chen, Y.2
Yi, Y.3
Tsuchiya, K.4
Moeckel, G.5
Cheung, J.6
Liang, D.7
Tham, K.8
Xu, X.9
Chen, X.Z.10
Pei, Y.11
Zhao, Z.J.12
Wu, G.13
-
15
-
-
0036707877
-
Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene
-
Nagasawa Y, Matthiesen S, Onuchic LF, Hou X, Bergmann C, Esquivel E, Senderek J, Ren Z, Zeltner R, Furu L, Avner E, Moser M, Somlo S, Guay-Woodford L, Buttner R, Zerres K, Germino GG: Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene. J Am Soc Nephrol 13: 2246-2258, 2002
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 2246-2258
-
-
Nagasawa, Y.1
Matthiesen, S.2
Onuchic, L.F.3
Hou, X.4
Bergmann, C.5
Esquivel, E.6
Senderek, J.7
Ren, Z.8
Zeltner, R.9
Furu, L.10
Avner, E.11
Moser, M.12
Somlo, S.13
Guay-Woodford, L.14
Buttner, R.15
Zerres, K.16
Germino, G.G.17
-
16
-
-
0032956537
-
Expression of green fluorescent protein in the ureteric bud of transgenic mice: A new tool for the analysis of ureteric bud morphogenesis
-
Srinivas S, Goldberg MR, Watanabe T, D'Agati V, Al-Awqati Q, Costantini F: Expression of green fluorescent protein in the ureteric bud of transgenic mice: A new tool for the analysis of ureteric bud morphogenesis. Dev Genet 24: 241-251, 1999
-
(1999)
Dev Genet
, vol.24
, pp. 241-251
-
-
Srinivas, S.1
Goldberg, M.R.2
Watanabe, T.3
D'Agati, V.4
Al-Awqati, Q.5
Costantini, F.6
-
17
-
-
0037428084
-
Tube morphogenesis: Making and shaping biological tubes
-
Lubarsky B, Krasnow MA: Tube morphogenesis: Making and shaping biological tubes. Cell 12: 19-28, 2003
-
(2003)
Cell
, vol.12
, pp. 19-28
-
-
Lubarsky, B.1
Krasnow, M.A.2
-
18
-
-
0037334326
-
Polycystic kidney disease: The ciliary connection
-
Ong AC, Wheatley DN: Polycystic kidney disease: The ciliary connection. Lancet 361: 774-776, 2003
-
(2003)
Lancet
, vol.361
, pp. 774-776
-
-
Ong, A.C.1
Wheatley, D.N.2
-
19
-
-
0037227766
-
The vertebrate primary cilium is a sensory organelle
-
Pazour GJ, Witman GB: The vertebrate primary cilium is a sensory organelle. Curr Opin Cell Biol 15: 105-110, 2003
-
(2003)
Curr Opin Cell Biol
, vol.15
, pp. 105-110
-
-
Pazour, G.J.1
Witman, G.B.2
-
20
-
-
0037225725
-
Basal body/centriole assembly and continuity
-
Beisson J, Wright M: Basal body/centriole assembly and continuity. Curr Opin Cell Biol 15: 96-104, 2003
-
(2003)
Curr Opin Cell Biol
, vol.15
, pp. 96-104
-
-
Beisson, J.1
Wright, M.2
-
21
-
-
0017714918
-
Substructure of solitary cilia in mouse kidney
-
Flood PR, Totland GK: Substructure of solitary cilia in mouse kidney. Cell Tissue Res 183: 281-290, 1977
-
(1977)
Cell Tissue Res
, vol.183
, pp. 281-290
-
-
Flood, P.R.1
Totland, G.K.2
-
22
-
-
18144444613
-
Flexible-substratum technique for viewing cells from the side: Some in vivo properties of primary (9+0) cilia in cultured kidney epithelia
-
Roth KE, Rieder CL, Bowser SS: Flexible-substratum technique for viewing cells from the side: Some in vivo properties of primary (9+0) cilia in cultured kidney epithelia. J Cell Sci 89: 457-466, 1988
-
(1988)
J Cell Sci
, vol.89
, pp. 457-466
-
-
Roth, K.E.1
Rieder, C.L.2
Bowser, S.S.3
-
23
-
-
0034735526
-
Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella
-
Pazour GJ, Dickert BL, Vucica Y, Seeley ES, Rosenbaum JL, Witman GB, Cole DG: Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella. J Cell Biol 151: 709-718, 2000
-
(2000)
J Cell Biol
, vol.151
, pp. 709-718
-
-
Pazour, G.J.1
Dickert, B.L.2
Vucica, Y.3
Seeley, E.S.4
Rosenbaum, J.L.5
Witman, G.B.6
Cole, D.G.7
-
24
-
-
0035916823
-
An autosomal recessive polycystic kidney disease gene homolog is involved in intraflagellar transport in C. elegans ciliated sensory neurons
-
Qin H, Rosenbaum JL, Barr MM: An autosomal recessive polycystic kidney disease gene homolog is involved in intraflagellar transport in C. elegans ciliated sensory neurons. Curr Biol 11: 457-461, 2001
-
(2001)
Curr Biol
, vol.11
, pp. 457-461
-
-
Qin, H.1
Rosenbaum, J.L.2
Barr, M.M.3
-
25
-
-
0035159015
-
Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia
-
Taulman PD, Haycraft CJ, Balkovetz DF, Yoder BK: Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia. Mol Biol Cell 12: 589-599, 2001
-
(2001)
Mol Biol Cell
, vol.12
, pp. 589-599
-
-
Taulman, P.D.1
Haycraft, C.J.2
Balkovetz, D.F.3
Yoder, B.K.4
-
26
-
-
0035498717
-
Bending the MDCK cell primary cilium increases intracellular calcium
-
Praetorius HA, Spring KR: Bending the MDCK cell primary cilium increases intracellular calcium. J Membr Biol 184: 71-79, 2001
-
(2001)
J Membr Biol
, vol.184
, pp. 71-79
-
-
Praetorius, H.A.1
Spring, K.R.2
-
27
-
-
0037317302
-
Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells
-
Nauli SM, Alenghat FJ, Luo Y, Williams E, Vassilev P, Li X, Elia AE, Lu W, Brown EM, Quinn SJ, Ingber DE, Zhou J: Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet 33: 129-137, 2003
-
(2003)
Nat Genet
, vol.33
, 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.7
Lu, W.8
Brown, E.M.9
Quinn, S.J.10
Ingber, D.E.11
Zhou, J.12
-
28
-
-
0031252295
-
Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation
-
Lu W, Peissel B, Babakhanlou H, Pavlova A, Geng L, Fan X, Larson C, Brent G, Zhou J: Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation. Nat Genet 17: 179-181, 1997
-
(1997)
Nat Genet
, vol.17
, pp. 179-181
-
-
Lu, W.1
Peissel, B.2
Babakhanlou, H.3
Pavlova, A.4
Geng, L.5
Fan, X.6
Larson, C.7
Brent, G.8
Zhou, J.9
-
29
-
-
0032909095
-
Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes
-
Lu W, Fan X, Basora N, Babakhanlou H, Law T, Rifai N, Harris PC, Perez-Atayde AR, Rennke HG, Zhou J: Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes. Nat Genet 21: 160-161, 1999
-
(1999)
Nat Genet
, vol.21
, 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-Atayde, A.R.8
Rennke, H.G.9
Zhou, J.10
-
30
-
-
0041965735
-
Immortalized epithelial cells from human autosomal dominant polycystic kidney cysts
-
Loghman-Adham M, Nauli SM, Soto CE, Kariuki B, Zhou J: Immortalized epithelial cells from human autosomal dominant polycystic kidney cysts. Am J Physiol 285: F397-F412, 2003
-
(2003)
Am J Physiol
, vol.285
-
-
Loghman-Adham, M.1
Nauli, S.M.2
Soto, C.E.3
Kariuki, B.4
Zhou, J.5
-
31
-
-
0029002967
-
Polycystic kidney disease: The complete structure of the PKD1 gene and its protein
-
International Polycystic Kidney Disease Consortium: Polycystic kidney disease: The complete structure of the PKD1 gene and its protein. Cell 81: 289-298, 1995
-
(1995)
Cell
, vol.81
, pp. 289-298
-
-
-
32
-
-
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: The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet 10: 151-160, 1995
-
(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
-
33
-
-
0033607014
-
A latrophilin/CL-1-like GPS domain in polycystin-1
-
Ponting CP, Hofmann K, Bork P: A latrophilin/CL-1-like GPS domain in polycystin-1. Curr Biol 9: R585-R588, 1999
-
(1999)
Curr Biol
, vol.9
-
-
Ponting, C.P.1
Hofmann, K.2
Bork, P.3
-
35
-
-
0031750484
-
Chlamydomonas kinesin-II-dependent intraflagellar transport (IFT): IFT particles contain proteins required for ciliary assembly in Caenorhabditis elegans sensory neurons
-
Cole DG, Diener DR, Himelblau AL, Beech PL, Fuster JC, Rosenbaum JL: Chlamydomonas kinesin-II-dependent intraflagellar transport (IFT): IFT particles contain proteins required for ciliary assembly in Caenorhabditis elegans sensory neurons. J Cell Biol 141: 993-1008, 1998
-
(1998)
J Cell Biol
, vol.141
, pp. 993-1008
-
-
Cole, D.G.1
Diener, D.R.2
Himelblau, A.L.3
Beech, P.L.4
Fuster, J.C.5
Rosenbaum, J.L.6
-
36
-
-
0033535044
-
The DHC1b (DHC2) isoform of cytoplasmic dynein is required for flagellar assembly
-
Pazour GJ, Dickert BL, Witman GB: The DHC1b (DHC2) isoform of cytoplasmic dynein is required for flagellar assembly. J Cell Biol 144: 473-481, 1999
-
(1999)
J Cell Biol
, vol.144
, pp. 473-481
-
-
Pazour, G.J.1
Dickert, B.L.2
Witman, G.B.3
-
37
-
-
0035899865
-
Localization of intraflagellar transport protein IFT52 identifies basal body transitional fibers as the docking site for IFT particles
-
Deane JA, Cole DG, Seeley ES, Diener DR, Rosenbaum JL: Localization of intraflagellar transport protein IFT52 identifies basal body transitional fibers as the docking site for IFT particles. Curr Biol 11: 1586-1590, 2001
-
(2001)
Curr Biol
, vol.11
, pp. 1586-1590
-
-
Deane, J.A.1
Cole, D.G.2
Seeley, E.S.3
Diener, D.R.4
Rosenbaum, J.L.5
-
38
-
-
0037884961
-
Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease
-
Lin F, Hiesberger T, Cordes K, Sinclair AM, Goldstein LS, Somlo S, Igarashi P: Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease. Proc Natl Acad Sci USA 100: 5286-5291, 2003
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 5286-5291
-
-
Lin, F.1
Hiesberger, T.2
Cordes, K.3
Sinclair, A.M.4
Goldstein, L.S.5
Somlo, S.6
Igarashi, P.7
-
39
-
-
0016705067
-
Fine structure of mammalian renal cilia
-
Weber WA, Lee J: Fine structure of mammalian renal cilia. Anat Rec 182: 339-344, 1975
-
(1975)
Anat Rec
, vol.182
, pp. 339-344
-
-
Weber, W.A.1
Lee, J.2
-
40
-
-
0025883666
-
Polarized sorting of rhodopsin on post-Golgi membranes in frog retinal photoreceptor cells
-
Deretic D, Papermaster DS: Polarized sorting of rhodopsin on post-Golgi membranes in frog retinal photoreceptor cells. J Cell Biol 113: 1281-1293, 1991
-
(1991)
J Cell Biol
, vol.113
, pp. 1281-1293
-
-
Deretic, D.1
Papermaster, D.S.2
-
41
-
-
0036468701
-
Integration of the centrosome in cell cycle control, stress response and signal transduction pathways
-
Lange BM: Integration of the centrosome in cell cycle control, stress response and signal transduction pathways. Curr Opin Cell Biol 14: 35-43, 2002
-
(2002)
Curr Opin Cell Biol
, vol.14
, pp. 35-43
-
-
Lange, B.M.1
-
45
-
-
10744220950
-
Cellular and subcellular localization of the ARPKD protein: Fibrocystin is expressed on primary cilia
-
Ward CJ, Yuan D, Masyuk TV, Wang X, Punyashthiti R, Whelan S, Bacallao R, Torra R, LaRusso NF, Torres VE, Harris PC: Cellular and subcellular localization of the ARPKD protein: Fibrocystin is expressed on primary cilia. Hum Mol Genet 12: 2703-2710, 2003.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2703-2710
-
-
Ward, C.J.1
Yuan, D.2
Masyuk, T.V.3
Wang, X.4
Punyashthiti, R.5
Whelan, S.6
Bacallao, R.7
Torra, R.8
LaRusso, N.F.9
Torres, V.E.10
Harris, P.C.11
|