-
6
-
-
0026705098
-
The skeletal muscle chloride channel in dominant and recessive human myotonia
-
(1992)
Science
, vol.257
, pp. 797-800
-
-
Koch, M.C.1
Steinmeyer, K.2
Lorenz, C.3
Ricker, K.4
Wolf, F.5
Otto, M.6
Zoll, B.7
Lehmann-Horn, F.8
Grzeschik, K.H.9
Jentsch, T.J.10
-
7
-
-
16944366243
-
Mutations in the chloride channel gene, CLCNKB, cause Bartter syndrome type III
-
(1997)
Nat Genet
, vol.17
, pp. 171-178
-
-
Simon, D.B.1
Bindra, R.S.2
Mansfield, T.A.3
Nelson-Williams, C.4
Mendonca, E.5
Stone, R.6
Schurman, S.7
Nayir, A.8
Alpay, H.9
Bakkaloglu, A.10
Rodriguez-Soriano, J.11
Morales, J.M.12
Sanjad, S.A.13
Taylor, C.M.14
Pilz, D.15
Brem, A.16
Trachtman, H.17
Griswold, W.18
Richard, G.A.19
John, E.20
Lifton, R.P.21
more..
-
8
-
-
0033914432
-
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome
-
(2000)
J Am Soc Nephrol
, vol.11
, pp. 1449-1459
-
-
Konrad, M.1
Vollmer, M.2
Lemmink, H.H.3
Van den Heuvel, L.P.4
Jeck, N.5
Vargas-Poussou, R.6
Lakings, A.7
Ruf, R.8
Deschenes, G.9
Antignac, C.10
Guay-Woodford, L.11
Knoers, N.V.12
Seyberth, H.W.13
Feldmann, D.14
Hildebrandt, F.15
-
9
-
-
0033667558
-
Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype
-
(2000)
Pediatr Res
, vol.48
, pp. 754-758
-
-
Jeck, N.1
Konrad, M.2
Peters, M.3
Weber, S.4
Bonzel, K.E.5
Seyberth, H.W.6
-
10
-
-
0031888274
-
X-linked hypercalciuric nephrolithiasis: Clinical syndromes and chloride channel mutations
-
(1998)
Kidney Int
, vol.53
, pp. 3-17
-
-
Scheinman, S.J.1
-
11
-
-
0035951282
-
Loss of the CIC-7 chloride channel leads to osteopetrosis in mice and man
-
(2001)
Cell
, vol.104
, pp. 205-215
-
-
Kornak, U.1
Kasper, D.2
Bosl, M.R.3
Kaiser, E.4
Schweizer, M.5
Schulz, A.6
Friedrich, W.7
Delling, G.8
Jentsch, T.J.9
-
12
-
-
0028832124
-
Localization and functional characterization of rat kidney-specific chloride channel, CIC-K1
-
(1995)
J Clin Invest
, vol.95
, pp. 104-113
-
-
Uchida, S.1
Sasaki, S.2
Nitta, K.3
Uchida, K.4
Horita, S.5
Nihei, H.6
Marumo, F.7
-
17
-
-
0032947011
-
Overt nephrogenic diabetes insipidus in mice lacking the CLC-K1 chloride channel
-
(1999)
Nat Genet
, vol.21
, pp. 95-98
-
-
Matsumura, Y.1
Uchida, S.2
Kondo, Y.3
Miyazaki, H.4
Ko, S.B.5
Hayama, A.6
Morimoto, T.7
Liu, W.8
Arisawa, M.9
Sasaki, S.10
Marumo, F.11
-
21
-
-
13344286321
-
A common molecular basis for three inherited kidney stone diseases
-
(1996)
Nature
, vol.379
, pp. 445-459
-
-
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
-
22
-
-
8544254724
-
Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1233-1239
-
-
Lloyd, S.E.1
Gunther, W.2
Pearce, S.H.3
Thomson, A.4
Bianchi, M.L.5
Bosio, M.6
Craig, I.W.7
Fisher, S.E.8
Scheinman, S.J.9
Wrong, O.10
Jentsch, T.J.11
Thakker, R.V.12
-
24
-
-
17544375314
-
+-ATPase
-
(1999)
Am J Physiol
, vol.277
-
-
Sakamoto, H.1
Sado, Y.2
Naito, I.3
Kwon, T.H.4
Inoue, S.5
Endo, K.6
Kawasaki, M.7
Uchida, S.8
Nielsen, S.9
Sasaki, S.10
Marumo, F.11
-
31
-
-
0034642297
-
Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2937-2945
-
-
Wang, S.S.1
Devuyst, O.2
Courtoy, P.J.3
Wang, X.T.4
Wang, H.5
Wang, Y.6
Thakker, R.V.7
Guggino, S.8
Guggino, W.B.9
-
33
-
-
0033582543
-
An endocytic pathway essential for renal uptake and activation of the steroid 25-(OH) vitamin D3
-
(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
-
36
-
-
2642687664
-
The swelling-activated chloride channel CIC-2, the chloride channel CIC-3, and CIC-5, a chloride channel mutated in kidney stone disease, are expressed in distinct subpopulations of renal epithelial cells
-
(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
-
41
-
-
0035868910
-
- channel disruption
-
(2001)
EMBO J
, vol.20
, pp. 1289-1299
-
-
Bösl, M.R.1
Stein, V.2
Hubner, C.3
Zdebik, A.A.4
Jordt, S.E.5
Mukhopadhyay, A.K.6
Davidoff, M.S.7
Holstein, A.F.8
Jentsch, T.J.9
-
43
-
-
17744375755
-
Disruption of CIC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus
-
(2001)
Neuron
, vol.29
, pp. 185-196
-
-
Stobrawa, S.M.1
Breiderhoff, T.2
Takamori, S.3
Engel, D.4
Schweizer, M.5
Zdebik, A.A.6
Bösl, M.R.7
Ruether, K.8
Jahn, H.9
Draguhn, A.10
Jahn, R.11
Jentsch, T.J.12
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