-
1
-
-
0028038212
-
Dent's disease; a familial proximal renal tubular syndrome with low molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and marked male predominance
-
Wrong OM, Norden AGW, Feest TG (1994) Dent's disease; a familial proximal renal tubular syndrome with low molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and marked male predominance. QJM 87:473-493
-
(1994)
QJM
, vol.87
, pp. 473-493
-
-
Wrong, O.M.1
Norden, A.G.W.2
Feest, T.G.3
-
2
-
-
13344286321
-
A common molecular basis for three inherited kidney stone diseases
-
Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SPA, Wrong O, Jentsch TJ, Craig IW, Thakker RV (1996) A common molecular basis for three inherited kidney stone diseases. Nature 379:445-449
-
(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.A.11
Wrong, O.12
Jentsch, T.J.13
Craig, I.W.14
Thakker, R.V.15
-
3
-
-
0031888274
-
X-linked hypercalciuric nephrolithiasis: Clinical syndromes and chloride channel mutations
-
Scheinman SJ (1998) X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int 53:3-17
-
(1998)
Kidney Int.
, vol.53
, pp. 3-17
-
-
Scheinman, S.J.1
-
4
-
-
0030907872
-
Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)
-
Lloyd SE, Pearce SHS, Gunther W, Kawaguchi H, Igarashi T, Jentsch TJ, Thakker RV (1997) 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 99:561-568
-
(1997)
J. Clin. Invest.
, vol.99
, pp. 561-568
-
-
Lloyd, S.E.1
Pearce, S.H.S.2
Gunther, W.3
Kawaguchi, H.4
Igarashi, T.5
Jentsch, T.J.6
Thakker, R.V.7
-
5
-
-
0030801334
-
Mutations in the CLCN5 gene in Japanese patients with familial idiopathic low-molecular-weight proteinuria
-
Nakazato H, Hattori S, Furuse A, Kawano T, Karashima S, Tsuruta M, Yoshimuta J, Endo F, Matsuda I (1997) Mutations in the CLCN5 gene in Japanese patients with familial idiopathic low-molecular-weight proteinuria. Kidney Int 52:895-900
-
(1997)
Kidney Int.
, vol.52
, pp. 895-900
-
-
Nakazato, H.1
Hattori, S.2
Furuse, A.3
Kawano, T.4
Karashima, S.5
Tsuruta, M.6
Yoshimuta, J.7
Endo, F.8
Matsuda, I.9
-
6
-
-
0030874882
-
Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis
-
Akuta N, Lloyd SE, Igarashi T, Shiraga H, Matsuyama T, Yokoro S, Cox JP, Thakker RV (1997) Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. Kidney Int 52:911-916
-
(1997)
Kidney Int.
, vol.52
, pp. 911-916
-
-
Akuta, N.1
Lloyd, S.E.2
Igarashi, T.3
Shiraga, H.4
Matsuyama, T.5
Yokoro, S.6
Cox, J.P.7
Thakker, R.V.8
-
7
-
-
7844231322
-
Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent's Japan disease
-
Igarashi T, Gunther W, Sekine T, Inatomi J, Shiraga H, Takahashi S, Suzuki J, Tsuru N, Yanagihara T, Shimazu M, Jentsch TJ, Thakker RV (1998) Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent's Japan disease. Kidney Int 54:1850-1856
-
(1998)
Kidney Int.
, vol.54
, pp. 1850-1856
-
-
Igarashi, T.1
Gunther, W.2
Sekine, T.3
Inatomi, J.4
Shiraga, H.5
Takahashi, S.6
Suzuki, J.7
Tsuru, N.8
Yanagihara, T.9
Shimazu, M.10
Jentsch, T.J.11
Thakker, R.V.12
-
8
-
-
0031957477
-
Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria
-
Morimoto T, Uchida S, Sakamoto H, Kondo Y, Hanamizu H, Fukui M, Tomino Y, Nagano N, Sasaki S, Marumo F (1998) Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria. J Am Soc Nephrol 9:811-818
-
(1998)
J. Am. Soc. Nephrol.
, vol.9
, pp. 811-818
-
-
Morimoto, T.1
Uchida, S.2
Sakamoto, H.3
Kondo, Y.4
Hanamizu, H.5
Fukui, M.6
Tomino, Y.7
Nagano, N.8
Sasaki, S.9
Marumo, F.10
-
9
-
-
0032923854
-
Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuria
-
Nakazato H, Yoshimuta J, Karashima S, Matsumoto S, Endo F, Matsuda I, Hattori S (1999) Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuria. Kidney Int 55:63-70
-
(1999)
Kidney Int.
, vol.55
, pp. 63-70
-
-
Nakazato, H.1
Yoshimuta, J.2
Karashima, S.3
Matsumoto, S.4
Endo, F.5
Matsuda, I.6
Hattori, S.7
-
10
-
-
0033852423
-
Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease
-
Igarashi T, Inatomi J, Ohara T, Kuwahara T, Shimadzu M, Thakker RV (2000) Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease. Kidney Int 58:520-527
-
(2000)
Kidney Int.
, vol.58
, pp. 520-527
-
-
Igarashi, T.1
Inatomi, J.2
Ohara, T.3
Kuwahara, T.4
Shimadzu, M.5
Thakker, R.V.6
-
11
-
-
0035170439
-
Identification of two novel mutations in the CLCN5 gene in Japanese patients with familial idiopathic low molecular weight proteinuria (Japanese Dent's disease)
-
Takemura T, Hino S, Ikeda M, Okada M, Igarashi T, Inatomi J, Yoshioka K (2001) Identification of two novel mutations in the CLCN5 gene in Japanese patients with familial idiopathic low molecular weight proteinuria (Japanese Dent's disease). Am J Kidney Dis 37:138-143
-
(2001)
Am. J. Kidney. Dis.
, vol.37
, pp. 138-143
-
-
Takemura, T.1
Hino, S.2
Ikeda, M.3
Okada, M.4
Igarashi, T.5
Inatomi, J.6
Yoshioka, K.7
-
12
-
-
0034676433
-
--channel disruption impairs endocytosis in a mouse model for Dent's disease
-
--channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature 408:369-373
-
(2000)
Nature
, vol.408
, pp. 369-373
-
-
Piwon, N.1
Gunther, W.2
Schwake, M.3
Bosl, M.R.4
-
13
-
-
0032828613
-
Essential role of megalin in renal proximal tubule for vitamin homeostasis
-
Christensen EI, Willnow TE (1999) Essential role of megalin in renal proximal tubule for vitamin homeostasis. J Am Soc Nephrol 10:2224-2236
-
(1999)
J. Am. Soc. Nephrol.
, vol.10
, pp. 2224-2236
-
-
Christensen, E.I.1
Willnow, T.E.2
-
14
-
-
24844450087
-
Soluble form of recombinant receptor associated protein (RAP) as a tool to elucidate megalin function
-
Yamagata M, Hashimoto Y, Miyauchi Y, Kondou H, Ozono K, Michigami T (2003) Soluble form of recombinant receptor associated protein (RAP) as a tool to elucidate megalin function. J Bone Miner Res 18:S408
-
(2003)
J. Bone. Miner. Res.
, vol.18
-
-
Yamagata, M.1
Hashimoto, Y.2
Miyauchi, Y.3
Kondou, H.4
Ozono, K.5
Michigami, T.6
-
15
-
-
0036139676
-
Urinary megalin deficiency implicates abnormal tubular endocytic function in Fanconi syndrome
-
Norden AGW, Lapsley M, Igarashi T, Kelleher CL, Lee PJ, Matsuyama T, Schenman SJ, Shiraga H, Sundin DP, Thakker RV, Unwin RJ, Verroust P, Moestrup SK (2002) Urinary megalin deficiency implicates abnormal tubular endocytic function in Fanconi syndrome. J Am Soc Nephrol 13:125-133
-
(2002)
J. Am. Soc. Nephrol.
, vol.13
, pp. 125-133
-
-
Norden, A.G.W.1
Lapsley, M.2
Igarashi, T.3
Kelleher, C.L.4
Lee, P.J.5
Matsuyama, T.6
Schenman, S.J.7
Shiraga, H.8
Sundin, D.P.9
Thakker, R.V.10
Unwin, R.J.11
Verroust, P.12
Moestrup, S.K.13
-
16
-
-
0037378408
-
+-ATP ase without ultrastructural change in kidneys of Dent's disease patients
-
+-ATP ase without ultrastructural change in kidneys of Dent's disease patients. Kidney Int 63:1285-1295
-
(2003)
Kidney Int.
, vol.63
, pp. 1285-1295
-
-
Moulin, P.1
Igarashi, T.2
Smissen, P.V.D.3
Cosyns, J.P.4
Verroust, P.5
Thakker, R.V.6
Scheinman, S.J.7
Courtoy, P.J.8
Devuyst, O.9
-
17
-
-
0033582543
-
3
-
3. Cell 96:507-515
-
(1999)
Cell
, vol.96
, pp. 507-515
-
-
Nykjaer, A.1
Dragun, D.2
Walther, D.3
Vorum, H.4
Jacobsen, C.5
Herz, J.6
Melsen, F.7
Christensen, E.I.8
Willnow, T.E.9
-
18
-
-
0032857025
-
Megalin knockout mice as an animal model of low molecular weight proteinuria
-
Leheste JR, Rolinski B, Vorum H, Hilpert J, Nykjaer A, Jacobsen C, Aucouturier P, Moskaug JO, Otto A, Christensen EI, Willnow TE (1999) Megalin knockout mice as an animal model of low molecular weight proteinuria. Am J Pathol 155: 1361-1370
-
(1999)
Am J. Pathol.
, vol.155
, pp. 1361-1370
-
-
Leheste, J.R.1
Rolinski, B.2
Vorum, H.3
Hilpert, J.4
Nykjaer, A.5
Jacobsen, C.6
Aucouturier, P.7
Moskaug, J.O.8
Otto, A.9
Christensen, E.I.10
Willnow, T.E.11
|