-
1
-
-
65649112786
-
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations
-
D. Bockenhauer, S. Feather, H.C. Stanescu, S. Bandulik, A.A. Zdebik, M. Reichold, J. Tobin, E. Lieberer, C. Sterner, G. Landoure, R. Arora, T. Sirimanna, D. Thompson, J.H. Cross, W. van't Hoff, O. Al Masri, K. Tullus, S. Yeung, Y. Anikster, E. Klootwijk, M. Hubank, M.J. Dillon, D. Heitzmann, M. Arcos-Burgos, M.A. Knepper, A. Dobbie, W.A. Gahl, R. Warth, E. Sheridan, and R. Kleta Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations N. Engl. J. Med. 360 2009 1960 1970
-
(2009)
N. Engl. J. Med.
, vol.360
, pp. 1960-1970
-
-
Bockenhauer, D.1
Feather, S.2
Stanescu, H.C.3
Bandulik, S.4
Zdebik, A.A.5
Reichold, M.6
Tobin, J.7
Lieberer, E.8
Sterner, C.9
Landoure, G.10
Arora, R.11
Sirimanna, T.12
Thompson, D.13
Cross, J.H.14
Van'T Hoff, W.15
Al Masri, O.16
Tullus, K.17
Yeung, S.18
Anikster, Y.19
Klootwijk, E.20
Hubank, M.21
Dillon, M.J.22
Heitzmann, D.23
Arcos-Burgos, M.24
Knepper, M.A.25
Dobbie, A.26
Gahl, W.A.27
Warth, R.28
Sheridan, E.29
Kleta, R.30
more..
-
2
-
-
65249156553
-
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10
-
U.I. Scholl, M. Choi, T. Liu, V.T. Ramaekers, M.G. Hausler, J. Grimmer, S.W. Tobe, A. Farhi, C. Nelson-Williams, and R.P. Lifton Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10 Proc. Natl. Acad. Sci. USA 106 2009 5842 5847
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 5842-5847
-
-
Scholl, U.I.1
Choi, M.2
Liu, T.3
Ramaekers, V.T.4
Hausler, M.G.5
Grimmer, J.6
Tobe, S.W.7
Farhi, A.8
Nelson-Williams, C.9
Lifton, R.P.10
-
3
-
-
0034659509
-
In vivo formation of a proton-sensitive K+ channel by heteromeric subunit assembly of Kir5.1 with Kir4.1
-
M. Tanemoto, N. Kittaka, A. Inanobe, and Y. Kurachi In vivo formation of a proton-sensitive K+ channel by heteromeric subunit assembly of Kir5.1 with Kir4.1 J. Physiol. 525 2000 587 592
-
(2000)
J. Physiol.
, vol.525
, pp. 587-592
-
-
Tanemoto, M.1
Kittaka, N.2
Inanobe, A.3
Kurachi, Y.4
-
4
-
-
0029897389
-
Immunolocalization of an inwardly rectifying K+ channel, K(AB)-2 (Kir4.1), in the basolateral membrane of renal distal tubular epithelia
-
M. Ito, A. Inanobe, Y. Horio, H. Hibino, S. Isomoto, H. Ito, K. Mori, A. Tonosaki, H. Tomoike, and Y. Kurachi Immunolocalization of an inwardly rectifying K+ channel, K(AB)-2 (Kir4.1), in the basolateral membrane of renal distal tubular epithelia FEBS Lett. 388 1996 11 15
-
(1996)
FEBS Lett.
, vol.388
, pp. 11-15
-
-
Ito, M.1
Inanobe, A.2
Horio, Y.3
Hibino, H.4
Isomoto, S.5
Ito, H.6
Mori, K.7
Tonosaki, A.8
Tomoike, H.9
Kurachi, Y.10
-
5
-
-
0034838263
-
An inwardly rectifying K(+) channel, Kir4.1, expressed in astrocytes surrounds synapses and blood vessels in brain
-
K. Higashi, A. Fujita, A. Inanobe, M. Tanemoto, K. Doi, T. Kubo, and Y. Kurachi An inwardly rectifying K(+) channel, Kir4.1, expressed in astrocytes surrounds synapses and blood vessels in brain Am. J. Physiol. Cell Physiol. 281 2001 922 931
-
(2001)
Am. J. Physiol. Cell Physiol.
, vol.281
, pp. 922-931
-
-
Higashi, K.1
Fujita, A.2
Inanobe, A.3
Tanemoto, M.4
Doi, K.5
Kubo, T.6
Kurachi, Y.7
-
6
-
-
1642580590
-
Expression of an inwardly rectifying K+ channel, Kir5.1, in specific types of fibrocytes in the cochlear lateral wall suggests its functional importance in the establishment of endocochlear potential
-
H. Hibino, K. Higashi-Shingai, A. Fujita, K. Iwai, M. Ishii, and Y. Kurachi Expression of an inwardly rectifying K+ channel, Kir5.1, in specific types of fibrocytes in the cochlear lateral wall suggests its functional importance in the establishment of endocochlear potential Eur. J. Neurosci. 19 2004 76 84
-
(2004)
Eur. J. Neurosci.
, vol.19
, pp. 76-84
-
-
Hibino, H.1
Higashi-Shingai, K.2
Fujita, A.3
Iwai, K.4
Ishii, M.5
Kurachi, Y.6
-
7
-
-
78149253682
-
Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10)
-
M. Sala-Rabanal, L.Y. Kucheryavykh, S.N. Skatchkov, M.J. Eaton, and C.G. Nichols Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10) J. Biol. Chem. 285 2010 36040 36048
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 36040-36048
-
-
Sala-Rabanal, M.1
Kucheryavykh, L.Y.2
Skatchkov, S.N.3
Eaton, M.J.4
Nichols, C.G.5
-
8
-
-
78649891905
-
Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome
-
D.M. Williams, C.M. Lopes, A. Rosenhouse-Dantsker, H.L. Connelly, A. Matavel, J. OU, E. McBeath, and D.A. Gray Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome J. Am. Soc. Nephrol. 21 2010 2117 2129
-
(2010)
J. Am. Soc. Nephrol.
, vol.21
, pp. 2117-2129
-
-
Williams, D.M.1
Lopes, C.M.2
Rosenhouse-Dantsker, A.3
Connelly, H.L.4
Matavel, A.5
Ou, J.6
McBeath, E.7
Gray, D.A.8
-
9
-
-
84886741047
-
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16
-
S. Parrock, S. Hussain, N. Issler, A.M. Differ, N. Lench, S. Guarino, M.J. Oosterveld, M. Keijzer-Veen, E. Brilstra, H. van Wieringen, A.Y. Konijnenberg, S. Amin-Rasip, S. Dumitriu, E. Klootwijk, N. Knoers, D. Bockenhauer, R. Kleta, and A.A. Zdebik KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16 Nephron. Physiol. 123 2013 7 14
-
(2013)
Nephron. Physiol.
, vol.123
, pp. 7-14
-
-
Parrock, S.1
Hussain, S.2
Issler, N.3
Differ, A.M.4
Lench, N.5
Guarino, S.6
Oosterveld, M.J.7
Keijzer-Veen, M.8
Brilstra, E.9
Van Wieringen, H.10
Konijnenberg, A.Y.11
Amin-Rasip, S.12
Dumitriu, S.13
Klootwijk, E.14
Knoers, N.15
Bockenhauer, D.16
Kleta, R.17
Zdebik, A.A.18
-
10
-
-
77956290593
-
KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function
-
M. Reichold, A.A. Zdebik, E. Lieberer, M. Rapedius, K. Schmidt, S. Bandulik, C. Sterner, I. Tegtmeier, D. Penton, T. Baukrowitz, S.A. Hulton, R. Witzgall, B. Ben-Zeev, A.J. Howie, R. Kleta, D. Bockenhauer, and R. Warth KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function Proc. Natl. Acad. Sci. USA 107 2010 14490 14495
-
(2010)
Proc. Natl. Acad. Sci. USA
, vol.107
, pp. 14490-14495
-
-
Reichold, M.1
Zdebik, A.A.2
Lieberer, E.3
Rapedius, M.4
Schmidt, K.5
Bandulik, S.6
Sterner, C.7
Tegtmeier, I.8
Penton, D.9
Baukrowitz, T.10
Hulton, S.A.11
Witzgall, R.12
Ben-Zeev, B.13
Howie, A.J.14
Kleta, R.15
Bockenhauer, D.16
Warth, R.17
-
11
-
-
77956265369
-
Variable loss of Kir4.1 channel function in SeSAME syndrome mutations
-
X. Tang, D. Hang, A. Sand, and P. Kofuji Variable loss of Kir4.1 channel function in SeSAME syndrome mutations Biochem. Biophys. Res. Commun. 399 2010 537 541
-
(2010)
Biochem. Biophys. Res. Commun.
, vol.399
, pp. 537-541
-
-
Tang, X.1
Hang, D.2
Sand, A.3
Kofuji, P.4
-
12
-
-
84868131967
-
SeSAME/EAST syndrome-phenotypic variability and delayed activity of the distal convoluted tubule
-
U.I. Scholl, H.B. Dave, M. Lu, A. Farhi, C. Nelson-Williams, J.A. Listman, and R.P. Lifton SeSAME/EAST syndrome-phenotypic variability and delayed activity of the distal convoluted tubule Pediatr. Nephrol. 27 2012 2081 2090
-
(2012)
Pediatr. Nephrol.
, vol.27
, pp. 2081-2090
-
-
Scholl, U.I.1
Dave, H.B.2
Lu, M.3
Farhi, A.4
Nelson-Williams, C.5
Listman, J.A.6
Lifton, R.P.7
-
13
-
-
0037082221
-
An inward rectifier K(+) channel at the basolateral membrane of the mouse distal convoluted tubule: Similarities with Kir4-Kir5.1 heteromeric channels
-
S. Lourdel, M. Paulais, F. Cluzeaud, M. Bens, M. Tanemoto, Y. Kurachi, A. Vandewalle, and J. Teulon An inward rectifier K(+) channel at the basolateral membrane of the mouse distal convoluted tubule: similarities with Kir4-Kir5.1 heteromeric channels J. Physiol. 538 2002 391 404
-
(2002)
J. Physiol.
, vol.538
, pp. 391-404
-
-
Lourdel, S.1
Paulais, M.2
Cluzeaud, F.3
Bens, M.4
Tanemoto, M.5
Kurachi, Y.6
Vandewalle, A.7
Teulon, J.8
-
14
-
-
33947546522
-
+ reabsorption in renal tubules
-
+ reabsorption in renal tubules Clin. Exp. Nephrol. 11 2007 1 6
-
(2007)
Clin. Exp. Nephrol.
, vol.11
, pp. 1-6
-
-
Tanemoto, M.1
-
15
-
-
45549109670
-
MAGI-1a functions as a scaffolding protein for the distal renal tubular basolateral K+ channels
-
M. Tanemoto, T. Toyohara, T. Abe, and S. Ito MAGI-1a functions as a scaffolding protein for the distal renal tubular basolateral K+ channels J. Biol. Chem. 283 2008 12241 12247
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 12241-12247
-
-
Tanemoto, M.1
Toyohara, T.2
Abe, T.3
Ito, S.4
-
16
-
-
33644806107
-
PDZ-binding and di-hydrophobic motifs regulate distribution of Kir4.1 channels in renal cells
-
M. Tanemoto, T. Abe, and S. Ito PDZ-binding and di-hydrophobic motifs regulate distribution of Kir4.1 channels in renal cells J. Am. Soc. Nephrol. 16 2005 2608 2614
-
(2005)
J. Am. Soc. Nephrol.
, vol.16
, pp. 2608-2614
-
-
Tanemoto, M.1
Abe, T.2
Ito, S.3
-
17
-
-
8644256806
-
PDZ binding motif-dependent localization of K+ channel on the basolateral side in distal tubules
-
M. Tanemoto, T. Abe, T. Onogawa, and S. Ito PDZ binding motif-dependent localization of K+ channel on the basolateral side in distal tubules Am. J. Physiol. Renal. Physiol. 287 2004 F1148 1153
-
(2004)
Am. J. Physiol. Renal. Physiol.
, vol.287
, pp. 1148-1153
-
-
Tanemoto, M.1
Abe, T.2
Onogawa, T.3
Ito, S.4
-
18
-
-
0037171756
-
PSD-95 mediates formation of a functional homomeric Kir5.1 channel in the brain
-
M. Tanemoto, A. Fujita, K. Higashi, and Y. Kurachi PSD-95 mediates formation of a functional homomeric Kir5.1 channel in the brain Neuron 34 2002 387 397
-
(2002)
Neuron
, vol.34
, pp. 387-397
-
-
Tanemoto, M.1
Fujita, A.2
Higashi, K.3
Kurachi, Y.4
-
19
-
-
0035793944
-
Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits
-
C. Derst, C. Karschin, E. Wischmeyer, J.R. Hirsch, R. Preisig-Muller, S. Rajan, H. Engel, K. Grzeschik, J. Daut, and A. Karschin Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits FEBS Lett. 491 2001 305 311
-
(2001)
FEBS Lett.
, vol.491
, pp. 305-311
-
-
Derst, C.1
Karschin, C.2
Wischmeyer, E.3
Hirsch, J.R.4
Preisig-Muller, R.5
Rajan, S.6
Engel, H.7
Grzeschik, K.8
Daut, J.9
Karschin, A.10
-
20
-
-
70349651260
-
- cotransporter: Molecular biology, functional properties, and regulation by WNKs
-
- cotransporter: molecular biology, functional properties, and regulation by WNKs Am. J. Physiol. Renal. Physiol. 297 2009 F838 848
-
(2009)
Am. J. Physiol. Renal. Physiol.
, vol.297
, pp. 838-848
-
-
Gamba, G.1
-
21
-
-
0034912209
-
Renal potassium channels: Function, regulation, and structure
-
G. Giebisch Renal potassium channels: function, regulation, and structure Kidney Int. 60 2001 436 445
-
(2001)
Kidney Int.
, vol.60
, pp. 436-445
-
-
Giebisch, G.1
-
22
-
-
9044235777
-
Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter
-
D.B. Simon, C. Nelson-Williams, M.J. Bia, D. Ellison, F.E. Karet, A.M. Molina, I. Vaara, F. Iwata, H.M. Cushner, M. Koolen, F.J. Gainza, H.J. Gitleman, and R.P. Lifton Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter Nat. Genet. 12 1996 24 30
-
(1996)
Nat. Genet.
, vol.12
, pp. 24-30
-
-
Simon, D.B.1
Nelson-Williams, C.2
Bia, M.J.3
Ellison, D.4
Karet, F.E.5
Molina, A.M.6
Vaara, I.7
Iwata, F.8
Cushner, H.M.9
Koolen, M.10
Gainza, F.J.11
Gitleman, H.J.12
Lifton, R.P.13
-
23
-
-
77958037552
-
Sorting it out in endosomes: An emerging concept in renal epithelial cell transport regulation
-
P.A. Welling, and O.A. Weisz Sorting it out in endosomes: an emerging concept in renal epithelial cell transport regulation Physiology 25 2010 280 292
-
(2010)
Physiology
, vol.25
, pp. 280-292
-
-
Welling, P.A.1
Weisz, O.A.2
|