-
1
-
-
0027829385
-
Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets
-
Bolino, A., M. Devoto, G. Enia, C. Zoccali, J. Weissenbach, and G. Romeo. Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets. Eur. J. Hum. Genet. 1: 269-279, 1993.
-
(1993)
Eur. J. Hum. Genet.
, vol.1
, pp. 269-279
-
-
Bolino, A.1
Devoto, M.2
Enia, G.3
Zoccali, C.4
Weissenbach, J.5
Romeo, G.6
-
2
-
-
0029053379
-
Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein
-
Borsani, G., E. I. Rugarli, M. Taglialatela, C. Wong, and A. Ballabio. Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein. Genomics 27: 131-241, 1995.
-
(1995)
Genomics
, vol.27
, pp. 131-241
-
-
Borsani, G.1
Rugarli, E.I.2
Taglialatela, M.3
Wong, C.4
Ballabio, A.5
-
3
-
-
0024240241
-
Localization of a proton-pumping ATPase in rat kidney
-
Brown, D., S. Hirsch, and S. Gluck. Localization of a proton-pumping ATPase in rat kidney. J. Clin. Invest. 82: 2114-2126, 1988.
-
(1988)
J. Clin. Invest.
, vol.82
, pp. 2114-2126
-
-
Brown, D.1
Hirsch, S.2
Gluck, S.3
-
4
-
-
0025740012
-
Structural and functional features of protein handling in the kidney proximal tubule
-
Christensen, E. I., and S. Nielsen. Structural and functional features of protein handling in the kidney proximal tubule. Semin. Nephrol. 11: 414-439, 1991.
-
(1991)
Semin. Nephrol.
, vol.11
, pp. 414-439
-
-
Christensen, E.I.1
Nielsen, S.2
-
5
-
-
0028014372
-
Vacuolar ATPase activity is required for endosomal carrier vesicle formation
-
Clague, M. J., S. Urbe, F. Aniento, and J. Gruenberg. Vacuolar ATPase activity is required for endosomal carrier vesicle formation. J. Biol. Chem. 269: 21-24, 1994.
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 21-24
-
-
Clague, M.J.1
Urbe, S.2
Aniento, F.3
Gruenberg, J.4
-
6
-
-
0028788756
-
Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis)
-
Fisher, S. E., I. van Bakel, S. E. Lloyd, S. H. Pearce, R. V. Thakker, and I. W. Craig. Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). Genomics 29: 598-606, 1995.
-
(1995)
Genomics
, vol.29
, pp. 598-606
-
-
Fisher, S.E.1
Van Bakel, I.2
Lloyd, S.E.3
Pearce, S.H.4
Thakker, R.V.5
Craig, I.W.6
-
7
-
-
0025896089
-
X-linked recessive nephrolithiasis with renal failure
-
Frymoyer, P. A., S. J. Scheinman, P. B. Dunham, D. B. Jones, P. Hueber, and E. T. Schroeder. X-linked recessive nephrolithiasis with renal failure. N. Engl. J. Med. 325: 681-686, 1991.
-
(1991)
N. Engl. J. Med.
, vol.325
, pp. 681-686
-
-
Frymoyer, P.A.1
Scheinman, S.J.2
Dunham, P.B.3
Jones, D.B.4
Hueber, P.5
Schroeder, E.T.6
-
8
-
-
0027459174
-
Cloning and expression of apical membrane water channel of rat kidney collecting tubule
-
Fushimi, K., S. Uchida, Y. Hara, Y. Hirata, F. Marumo, and S. Sasaki. Cloning and expression of apical membrane water channel of rat kidney collecting tubule. Nature 361: 549-552, 1993.
-
(1993)
Nature
, vol.361
, pp. 549-552
-
-
Fushimi, K.1
Uchida, S.2
Hara, Y.3
Hirata, Y.4
Marumo, F.5
Sasaki, S.6
-
10
-
-
0032493292
-
Chloride channels and endocytosis: C1C-5 makes a dent
-
George, A. L., Jr. Chloride channels and endocytosis: C1C-5 makes a dent. Proc. Natl. Acad. Sci. USA 95: 7843-7845, 1998.
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 7843-7845
-
-
George Jr., A.L.1
-
11
-
-
0023230412
-
Strategies for epitope analysis using peptide synthesis
-
Geysen, H. M., S. J. Rodda, T. J. Mason, G. Tribbick, and P. G. Schoofs. Strategies for epitope analysis using peptide synthesis. J. Immunol. Methods 102: 259-274, 1987.
-
(1987)
J. Immunol. Methods
, vol.102
, pp. 259-274
-
-
Geysen, H.M.1
Rodda, S.J.2
Mason, T.J.3
Tribbick, G.4
Schoofs, P.G.5
-
13
-
-
0032493276
-
ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells
-
Gunther, W., A. Luchow, F. Cluzeaud, A. Vandewalle, and T. J. Jentsch. ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells. Proc. Natl. Acad. Sci. USA 95: 8075-8080, 1998.
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 8075-8080
-
-
Gunther, W.1
Luchow, A.2
Cluzeaud, F.3
Vandewalle, A.4
Jentsch, T.J.5
-
14
-
-
0026730328
-
Immunologic evidence that vacuolar H+ ATPases with heterogeneous forms of Mr = 31,000 subunit have different membrane distributions in mammalian kidney
-
Hemken, P., X. L. Guo, Z. Q. Wang, K. Zhang, and S. Gluck. Immunologic evidence that vacuolar H+ ATPases with heterogeneous forms of Mr = 31,000 subunit have different membrane distributions in mammalian kidney. J. Biol. Chem. 267: 9948-9957, 1992.
-
(1992)
J. Biol. Chem.
, vol.267
, pp. 9948-9957
-
-
Hemken, P.1
Guo, X.L.2
Wang, Z.Q.3
Zhang, K.4
Gluck, S.5
-
15
-
-
0028957547
-
Hypercalciuria and nephrocalcinosis in patients with idiopathic low molecular weight proteinuria in Japan. Is this identical to Dent's disease in the United Kingdom?
-
Igarashi, T., H. Hayakawa, H. Shiraga, H. Kawato, K. Yan, H. Kawaguchi, T. Yamanake, S. Thuchida, and K. Akagi. Hypercalciuria and nephrocalcinosis in patients with idiopathic low molecular weight proteinuria in Japan. Is this identical to Dent's disease in the United Kingdom? Nephron 69: 242-247, 1995.
-
(1995)
Nephron
, vol.69
, pp. 242-247
-
-
Igarashi, T.1
Hayakawa, H.2
Shiraga, H.3
Kawato, H.4
Yan, K.5
Kawaguchi, H.6
Yamanake, T.7
Thuchida, S.8
Akagi, K.9
-
16
-
-
0029183476
-
Properties of voltage-gated chloride channels of the ClC gene family
-
Jentsch, T. J., W. Gunther, M. Pusch, and B. Schwappach. Properties of voltage-gated chloride channels of the ClC gene family. J. Physiol. (Lond.) 482: 19S-25S, 1995.
-
(1995)
J. Physiol. (Lond.)
, vol.482
-
-
Jentsch, T.J.1
Gunther, W.2
Pusch, M.3
Schwappach, B.4
-
17
-
-
0028263082
-
Cloning and expression of a protein kinase C-regulated chloride channel abundantly expressed in rat brain neuronal cells
-
Kawasaki, M., S. Uchida, T. Monkawa, A. Miyawaki, K. Mikoshiba, F. Marumo, and S. Sasaki. Cloning and expression of a protein kinase C-regulated chloride channel abundantly expressed in rat brain neuronal cells. Neuron 12: 597-604, 1994.
-
(1994)
Neuron
, vol.12
, pp. 597-604
-
-
Kawasaki, M.1
Uchida, S.2
Monkawa, T.3
Miyawaki, A.4
Mikoshiba, K.5
Marumo, F.6
Sasaki, S.7
-
18
-
-
0029058189
-
Stable and functional expression of the ClC-3 chloride channel in somatic cell lines
-
Kawasaki, M., M. Suzuki, S. Uchida, S. Sasaki, and F. Marumo. Stable and functional expression of the ClC-3 chloride channel in somatic cell lines. Neuron 14: 1285-1291, 1995.
-
(1995)
Neuron
, vol.14
, pp. 1285-1291
-
-
Kawasaki, M.1
Suzuki, M.2
Uchida, S.3
Sasaki, S.4
Marumo, F.5
-
19
-
-
13344286321
-
A common molecular basis for three inherited kidney stone diseases
-
Lloyd, S. E., S. H. Pearce, S. E. Fisher, K. Steinmeyer, B. Schwappach, S. J. Scheinman, B. Harding, A. Bolino, M. Devoto, P. Goodyer, S. P. Rigden, O. Wrong, T. J. Jentsch, I. W. Craig, and R. V. Thakker. A common molecular basis for three inherited kidney stone diseases. Nature 379: 445-449, 1996.
-
(1996)
Nature
, vol.379
, pp. 445-449
-
-
Lloyd, S.E.1
Pearce, S.H.2
Fisher, S.E.3
Steinmeyer, K.4
Schwappach, B.5
Scheinman, S.J.6
Harding, B.7
Bolino, A.8
Devoto, M.9
Goodyer, P.10
Rigden, S.P.11
Wrong, O.12
Jentsch, T.J.13
Craig, I.W.14
Thakker, R.V.15
-
20
-
-
0030907872
-
Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)
-
Lloyd, S. E., S. H. Pearce, W. Gunther, H. Kawaguchi, T. Igarashi, T. J. Jentsch, and R. V. Thakker. Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). J. Clin. Invest. 99: 967-974, 1997.
-
(1997)
J. Clin. Invest.
, vol.99
, pp. 967-974
-
-
Lloyd, S.E.1
Pearce, S.H.2
Gunther, W.3
Kawaguchi, H.4
Igarashi, T.5
Jentsch, T.J.6
Thakker, R.V.7
-
21
-
-
0018692485
-
Renal nitration, transport, and metabolism of low-molecular-weight proteins: A review
-
Maack, T., V. Johnson, S. T. Kau, J. Figueiredo, and D. Sigulem. Renal nitration, transport, and metabolism of low-molecular-weight proteins: a review. Kidney Int. 16: 251-270, 1979.
-
(1979)
Kidney Int.
, vol.16
, pp. 251-270
-
-
Maack, T.1
Johnson, V.2
Kau, S.T.3
Figueiredo, J.4
Sigulem, D.5
-
22
-
-
0031934541
-
Dynein and dynactin colocalize with AQP2 water channels in intracellular vesicles from kidney collecting duct
-
Renal Physiol. 43
-
Marples, D., T. A. Schroer, N. Ahrens, A. Taylor, M. A. Knepper, and S. Nielsen. Dynein and dynactin colocalize with AQP2 water channels in intracellular vesicles from kidney collecting duct. Am. J. Physiol. 274 (Renal Physiol. 43): F384-F394, 1998.
-
(1998)
Am. J. Physiol.
, vol.274
-
-
Marples, D.1
Schroer, T.A.2
Ahrens, N.3
Taylor, A.4
Knepper, M.A.5
Nielsen, S.6
-
23
-
-
0031957477
-
Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria
-
Morimoto, T., S. Uchida, H. Sakamoto, Y. Hondo, H. Hanamizu, M. Fukui, Y. Tomino, N. Nagano, S. Sasaki, and F. Marumo. Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria. J. Am. Soc. Nephrol. 9: 811-818, 1998.
-
(1998)
J. Am. Soc. Nephrol.
, vol.9
, pp. 811-818
-
-
Morimoto, T.1
Uchida, S.2
Sakamoto, H.3
Hondo, Y.4
Hanamizu, H.5
Fukui, M.6
Tomino, Y.7
Nagano, N.8
Sasaki, S.9
Marumo, F.10
-
24
-
-
2642687664
-
The swelling-activated chloride channel ClC-2, the chloride channel ClC-3, and ClC-5, a chloride channel mutated in kidney stone disease, are expressed in distinct subpopulations of renal epithelial cells
-
Obermuller, N., N. Gretz, W. Kriz, R. F. Reilly, and R. Witzgall. The swelling-activated chloride channel ClC-2, the chloride channel ClC-3, and ClC-5, a chloride channel mutated in kidney stone disease, are expressed in distinct subpopulations of renal epithelial cells. J. Clin. Invest. 101: 635-642, 1998.
-
(1998)
J. Clin. Invest.
, vol.101
, pp. 635-642
-
-
Obermuller, N.1
Gretz, N.2
Kriz, W.3
Reilly, R.F.4
Witzgall, R.5
-
25
-
-
0027716372
-
Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22
-
Pook, M. A., O. Wrong, C. Wooding, A. G. Norden, T. G. Feest, and R. V. Thakker. Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22. Hum. Mol. Genet. 2: 2129-2134, 1993.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 2129-2134
-
-
Pook, M.A.1
Wrong, O.2
Wooding, C.3
Norden, A.G.4
Feest, T.G.5
Thakker, R.V.6
-
26
-
-
0028971366
-
Establishment by the rat lymph node method of epitope-defined monoclonal antibodies recognizing the six different alpha chains of human type IV collagen
-
Sado, Y., M. Kagawa, Y. Kishiro, K. Sugihara, I. Naito, J. M. Seyer, M. Sugimoto, T. Oohashi, and Y. Ninomiya. Establishment by the rat lymph node method of epitope-defined monoclonal antibodies recognizing the six different alpha chains of human type IV collagen. Histochem. Cell. Biol. 104: 267-275, 1995.
-
(1995)
Histochem. Cell. Biol.
, vol.104
, pp. 267-275
-
-
Sado, Y.1
Kagawa, M.2
Kishiro, Y.3
Sugihara, K.4
Naito, I.5
Seyer, J.M.6
Sugimoto, M.7
Oohashi, T.8
Ninomiya, Y.9
-
28
-
-
0027177179
-
Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies
-
Scheinman, S. J., M. A. Pook, C. Wooding, J. T. Pang, P. A. Frymoyer, and R. V. Thakker. Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies. J. Clin. Invest. 91: 2351-2357, 1993.
-
(1993)
J. Clin. Invest.
, vol.91
, pp. 2351-2357
-
-
Scheinman, S.J.1
Pook, M.A.2
Wooding, C.3
Pang, J.T.4
Frymoyer, P.A.5
Thakker, R.V.6
-
29
-
-
0029609597
-
Cloning and functional expression of rat CLC-5, a chloride channel related to kidney disease
-
Steinmeyer, K., B. Schwappach, M. Bens, A. Vandewalle, and T. J. Jentsch. Cloning and functional expression of rat CLC-5, a chloride channel related to kidney disease. J. Biol. Chem. 270: 31172-31177, 1995.
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 31172-31177
-
-
Steinmeyer, K.1
Schwappach, B.2
Bens, M.3
Vandewalle, A.4
Jentsch, T.J.5
-
30
-
-
0029880302
-
Identification of distinct subpopulations of intercalated cells in the mouse collecting duct
-
Teng-umnuay, P., J. W. Verlander, W. Yuan, C. C. Tisher, and K. M. Madsen. Identification of distinct subpopulations of intercalated cells in the mouse collecting duct. J. Am. Soc. Nephrol 7: 260-274, 1996.
-
(1996)
J. Am. Soc. Nephrol
, vol.7
, pp. 260-274
-
-
Teng-umnuay, P.1
Verlander, J.W.2
Yuan, W.3
Tisher, C.C.4
Madsen, K.M.5
-
31
-
-
0028219321
-
A gene from the Xp22.3 region shares homology with voltage-gated chloride channels
-
van Slegtenhorst, M. A., M. T. Bassi, G. Borsani, M. C. Wapenaar, G. B. Ferrero, L. de Conciliis, E. I. Rugarli, A. Grille, B. Franco, H. Y. Zoghbi, and A. Ballabio. A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. Hum. Mol. Genet. 3: 547-552, 1994.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 547-552
-
-
Van Slegtenhorst, M.A.1
Bassi, M.T.2
Borsani, G.3
Wapenaar, M.C.4
Ferrero, G.B.5
De Conciliis, L.6
Rugarli, E.I.7
Grille, A.8
Franco, B.9
Zoghbi, H.Y.10
Ballabio, A.11
-
32
-
-
0029160297
-
Transport from late endosomes to lysosomes, but not sorting of integral membrane proteins in endosomes, depends on the vacuolar proton pump
-
van Weert, A. W., K. W. Dunn, H. J. Gueze, F. R. Maxfield, and W. Stoorvogel. Transport from late endosomes to lysosomes, but not sorting of integral membrane proteins in endosomes, depends on the vacuolar proton pump. J. Cell Biol. 130: 821-834, 1995.
-
(1995)
J. Cell Biol.
, vol.130
, pp. 821-834
-
-
Van Weert, A.W.1
Dunn, K.W.2
Gueze, H.J.3
Maxfield, F.R.4
Stoorvogel, W.5
-
33
-
-
0028038212
-
Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance
-
Wrong, O. M., A. G. Norden, and T. G. Feest. Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. QJM 87: 473-493, 1994.
-
(1994)
QJM
, vol.87
, pp. 473-493
-
-
Wrong, O.M.1
Norden, A.G.2
Feest, T.G.3
|