-
1
-
-
0029099890
-
Molecular genetics of ion channel diseases
-
George, A. L. (1995) Molecular genetics of ion channel diseases. Kidney Int. 48, 1180-1190
-
(1995)
Kidney Int.
, vol.48
, pp. 1180-1190
-
-
George, A.L.1
-
3
-
-
0031589944
-
Ion channels: Basic science and clinical disease
-
Ackerman, M. J, and Clapham, D. E. (1997) Ion channels: Basic science and clinical disease. N. Engl. J. Med. 336, 1575-1586
-
(1997)
N. Engl. J. Med.
, vol.336
, pp. 1575-1586
-
-
Ackerman, M.J.1
Clapham, D.E.2
-
4
-
-
0031959948
-
Ataxia, arrhythmia and ion-channel gene defects
-
Doyle J. L., and Stubbs, L. (1998) Ataxia, arrhythmia and ion-channel gene defects. Trends Genet. 14, 92-98
-
(1998)
Trends Genet.
, vol.14
, pp. 92-98
-
-
Doyle, J.L.1
Stubbs, L.2
-
5
-
-
0025868103
-
Demonstration that CFTR is a chloride channel by alteration of its anion selectivity
-
Anderson M. P., Gregory, R. J., Thompson, S., Souza, D. W., Paul, S., Mulligan, R. C., Smith, A. E., and Welsh, M. J. (1991) Demonstration that CFTR is a chloride channel by alteration of its anion selectivity. Science 253, 202-205
-
(1991)
Science
, vol.253
, pp. 202-205
-
-
Anderson, M.P.1
Gregory, R.J.2
Thompson, S.3
Souza, D.W.4
Paul, S.5
Mulligan, R.C.6
Smith, A.E.7
Welsh, M.J.8
-
6
-
-
0026523829
-
Cystic fibrosis: Molecular biology and therapeutic implications
-
Collins, F. S. (1992) Cystic fibrosis: molecular biology and therapeutic implications. Science 256, 774-779
-
(1992)
Science
, vol.256
, pp. 774-779
-
-
Collins, F.S.1
-
7
-
-
0027481813
-
The cystic fibrosis transmembrane conductance regulator
-
Riordan, J. R. (1993) The cystic fibrosis transmembrane conductance regulator. Annu. Rev. Physiol. 55, 609-630
-
(1993)
Annu. Rev. Physiol.
, vol.55
, pp. 609-630
-
-
Riordan, J.R.1
-
8
-
-
0030021470
-
Role of mutant CFTR in hypersusceptibility of cystic fibrosis patients to lung infections
-
Pier, G. B., Grout, M., Zaidi, T. S., Olsen, J. C., Johnson, L. G., Yankaskas, J. R., and Goldberg, J. B. (1996) Role of mutant CFTR in hypersusceptibility of cystic fibrosis patients to lung infections. Science 271, 64-67
-
(1996)
Science
, vol.271
, pp. 64-67
-
-
Pier, G.B.1
Grout, M.2
Zaidi, T.S.3
Olsen, J.C.4
Johnson, L.G.5
Yankaskas, J.R.6
Goldberg, J.B.7
-
9
-
-
0028914969
-
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
-
Curran, M. E., Splawski, I., Timothy, K. W., Vincent, G. M., Green, E. D., and Keating, M. T. (1995) A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 80, 795-803
-
(1995)
Cell
, vol.80
, pp. 795-803
-
-
Curran, M.E.1
Splawski, I.2
Timothy, K.W.3
Vincent, G.M.4
Green, E.D.5
Keating, M.T.6
-
10
-
-
0028905566
-
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
-
Wang, Q., Shen, J., Splawski, I., Atkinson, D., Li, Z., Robinson, J. L., Moss, A. J., Towbin, J. A., and Keating, M. T. (1995) SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80, 805-811
-
(1995)
Cell
, vol.80
, pp. 805-811
-
-
Wang, Q.1
Shen, J.2
Splawski, I.3
Atkinson, D.4
Li, Z.5
Robinson, J.L.6
Moss, A.J.7
Towbin, J.A.8
Keating, M.T.9
-
11
-
-
0029002969
-
A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel
-
Sanguinetti, M. C., Jiang, C., Curran, M. E., and Keating, M. T. (1995) A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel. Cell 81, 299-307
-
(1995)
Cell
, vol.81
, pp. 299-307
-
-
Sanguinetti, M.C.1
Jiang, C.2
Curran, M.E.3
Keating, M.T.4
-
12
-
-
17144450747
-
Prolongation of the QT interval and the sudden infant death syndrome
-
Schwartz, P. J., Stramba-Badiale, M., Segantini, A., Austoni, P., Bosi, G., Giorgetti, R., Grancini, F., Marni, E. D., Perticone, F., Rosti, D., and Salice, P. (1998) Prolongation of the QT interval and the sudden infant death syndrome. N. Engl. J. Med. 338, 1709-1714
-
(1998)
N. Engl. J. Med.
, vol.338
, pp. 1709-1714
-
-
Schwartz, P.J.1
Stramba-Badiale, M.2
Segantini, A.3
Austoni, P.4
Bosi, G.5
Giorgetti, R.6
Grancini, F.7
Marni, E.D.8
Perticone, F.9
Rosti, D.10
Salice, P.11
-
13
-
-
0032189139
-
Influence of genotype on the clinical course of the long-QT syndrome
-
International Long-QT Syndrome Registry Research Group
-
Zareba, W., Moss, A. J., Schwartz, P. J., Vincent, G. M., Robinson, J. L., Priori, S. G., Benhorin, J., Locati, E. H., Towbin, J. A., Keating, M. T., Lehmann, M. H., and Hall, W. J. (1998) Influence of genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group.N. Engl. J. Med. 339, 960-965
-
(1998)
N. Engl. J. Med.
, vol.339
, pp. 960-965
-
-
Zareba, W.1
Moss, A.J.2
Schwartz, P.J.3
Vincent, G.M.4
Robinson, J.L.5
Priori, S.G.6
Benhorin, J.7
Locati, E.H.8
Towbin, J.A.9
Keating, M.T.10
Lehmann, M.H.11
Hall, W.J.12
-
14
-
-
0028964511
-
Voltage-gated ion channelopathies: Inherited disorders caused by abnormal sodium, chloride, and calcium regulation in skeletal muscle
-
Hoffman, E. P. (1995) Voltage-gated ion channelopathies: inherited disorders caused by abnormal sodium, chloride, and calcium regulation in skeletal muscle. Annu. Rev. Med. 46, 431-441
-
(1995)
Annu. Rev. Med.
, vol.46
, pp. 431-441
-
-
Hoffman, E.P.1
-
15
-
-
0009673010
-
Ion channel genes and human neurological diseases: Recent progress, prospects and challenges
-
Cooper, E. C., and Jan, L. Y. (1999) Ion channel genes and human neurological diseases: Recent progress, prospects and challenges. Proc. Natl. Acad. Sci. USA 96, 4759-4766
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 4759-4766
-
-
Cooper, E.C.1
Jan, L.Y.2
-
16
-
-
0343488504
-
Channelopathies: Ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system
-
Ptacek, L. J. (1997) Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system. Neuromusc. Disord. 7, 250-255
-
(1997)
Neuromusc. Disord.
, vol.7
, pp. 250-255
-
-
Ptacek, L.J.1
-
18
-
-
0031829409
-
Migraine, ataxia and epilepsy - A challenging spectrum of genetically determined calcium channelopathies
-
Terwindt, G. M., Ophoff, R. A., Haan, J., Sandkuijl, L. A., Frants, R. R., and Ferrari, M. D. (1998) Migraine, ataxia and epilepsy - a challenging spectrum of genetically determined calcium channelopathies. Eur. J. Hum. Genet. 6, 297-307
-
(1998)
Eur. J. Hum. Genet.
, vol.6
, pp. 297-307
-
-
Terwindt, G.M.1
Ophoff, R.A.2
Haan, J.3
Sandkuijl, L.A.4
Frants, R.R.5
Ferrari, M.D.6
-
19
-
-
0031465024
-
Voltage-gated and inwardly rectifying potassium channels
-
Jan, L. Y., and Jan, Y. N. (1997) Voltage-gated and inwardly rectifying potassium channels. J. Physiol. 505, 267-282
-
(1997)
J. Physiol.
, vol.505
, pp. 267-282
-
-
Jan, L.Y.1
Jan, Y.N.2
-
20
-
-
0030934798
-
Inward rectifier potassium channels
-
Nichols, C. G., and Lopatin, A. N. (1997) Inward rectifier potassium channels. Annu. Rev. Physiol. 59, 171-191
-
(1997)
Annu. Rev. Physiol.
, vol.59
, pp. 171-191
-
-
Nichols, C.G.1
Lopatin, A.N.2
-
21
-
-
0029015089
-
The inward rectifier potassium channel family
-
Doupnik, C. A., Davidson, N., Lester, H. A. (1995) The inward rectifier potassium channel family. Curr. Opin. Neurobiol. 5, 268-277
-
(1995)
Curr. Opin. Neurobiol.
, vol.5
, pp. 268-277
-
-
Doupnik, C.A.1
Davidson, N.2
Lester, H.A.3
-
22
-
-
0001390390
-
Les constantes electriques de la membrane du muscle
-
Katz, B. (1949) Les constantes electriques de la membrane du muscle. Arch. Sci. Physiol. 2, 285-299
-
(1949)
Arch. Sci. Physiol.
, vol.2
, pp. 285-299
-
-
Katz, B.1
-
23
-
-
0027537268
-
Cloning and expression of an inwardly rectifying ATP-regulated potassium channel
-
Ho, K., Nichols, C. G., Lederer, W. J., Lytton, J., Vassilev, P. M., Kanazirska, M. V., and Hebert, S. C. (1993) Cloning and expression of an inwardly rectifying ATP-regulated potassium channel. Nature (London) 362, 31-38
-
(1993)
Nature (London)
, vol.362
, pp. 31-38
-
-
Ho, K.1
Nichols, C.G.2
Lederer, W.J.3
Lytton, J.4
Vassilev, P.M.5
Kanazirska, M.V.6
Hebert, S.C.7
-
24
-
-
0027403280
-
Primary structure and functional expression of a mouse inward rectifier potassium channel
-
Kubo, Y., Baldwin, T. J., Jan, Y. N., and Jan, L. Y. (1993) Primary structure and functional expression of a mouse inward rectifier potassium channel. Nature (London) 362, 127-133
-
(1993)
Nature (London)
, vol.362
, pp. 127-133
-
-
Kubo, Y.1
Baldwin, T.J.2
Jan, Y.N.3
Jan, L.Y.4
-
25
-
-
0027219695
-
Primary structure and functional expression of a rat G-protein-coupled muscarinic potassium channel
-
Kubo, Y., Reuveny, E., Slesinger, P. A., Jan, Y. N., and Jan, L. Y. (1993) Primary structure and functional expression of a rat G-protein-coupled muscarinic potassium channel. Nature (London) 364, 802-806
-
(1993)
Nature (London)
, vol.364
, pp. 802-806
-
-
Kubo, Y.1
Reuveny, E.2
Slesinger, P.A.3
Jan, Y.N.4
Jan, L.Y.5
-
26
-
-
0028972501
-
Reconstitution of IKATP: An inward rectifier subunit plus the sulfonylurea receptor
-
Inagaki, N., Gonoi, T., Clement, J. P., Namba, N., Inazawa, J., Gonzalez, G., Aguilar-Bryan, L., Seino, S., and Bryan, J. (1995) Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor. Science 270, 1166-1170
-
(1995)
Science
, vol.270
, pp. 1166-1170
-
-
Inagaki, N.1
Gonoi, T.2
Clement, J.P.3
Namba, N.4
Inazawa, J.5
Gonzalez, G.6
Aguilar-Bryan, L.7
Seino, S.8
Bryan, J.9
-
27
-
-
0030975901
-
Inwardly rectifying potassium channels: Their molecular heterogeneity and function
-
Isomoto, S., Kondo, C., and Kurachi, Y. (1997) Inwardly rectifying potassium channels: their molecular heterogeneity and function. Jpn. J. Physiol. 47, 11-39
-
(1997)
Jpn. J. Physiol.
, vol.47
, pp. 11-39
-
-
Isomoto, S.1
Kondo, C.2
Kurachi, Y.3
-
29
-
-
0001847927
-
Cloned potassium channels from eukaryotes and prokaryotes
-
Jan, L. Y., and Jan, Y. N. (1997) Cloned potassium channels from eukaryotes and prokaryotes. Annu. Rev. Neurosci. 20, 91-123
-
(1997)
Annu. Rev. Neurosci.
, vol.20
, pp. 91-123
-
-
Jan, L.Y.1
Jan, Y.N.2
-
30
-
-
0031912043
-
General principles of the structure of ion channels
-
Hebert, S. C. (1998) General principles of the structure of ion channels. Am J. Med. 104, 87-98
-
(1998)
Am J. Med.
, vol.104
, pp. 87-98
-
-
Hebert, S.C.1
-
34
-
-
0028180952
-
Recombinant G-protein beta gamma-subunits activate the muscarinic-gated atrial potassium channel
-
Wickman, K. D., Iniguez-Lluhl, J. A., Davenport, P. A., Taussig, R., Krapivinsky, G. B., Linder, M. E., Gilman, A. G., and Clapham, D. E. (1994) Recombinant G-protein beta gamma-subunits activate the muscarinic-gated atrial potassium channel. Nature (London) 368, 255-257
-
(1994)
Nature (London)
, vol.368
, pp. 255-257
-
-
Wickman, K.D.1
Iniguez-Lluhl, J.A.2
Davenport, P.A.3
Taussig, R.4
Krapivinsky, G.B.5
Linder, M.E.6
Gilman, A.G.7
Clapham, D.E.8
-
35
-
-
0028785438
-
G protein regulation of cardiac muscarinic potassium channel
-
Kurachi, Y. (1995) G protein regulation of cardiac muscarinic potassium channel. Am J. Physiol. 269, C821-C830
-
(1995)
Am J. Physiol.
, vol.269
-
-
Kurachi, Y.1
-
36
-
-
0032557490
-
Molecular basis for interactions of G protein betagamma subunits with effectors
-
Ford, C. E., Skiba, N. P., Bae, H., Daaka, Y., Reuveny, E., Shekter, L. R., Rosal, R., Weng, G., Yang, C. S., Iyengar, R., Miller, R. J., Jan, L. Y., Lefkowitz, R. J., and Hamm, H. E. (1998) Molecular basis for interactions of G protein betagamma subunits with effectors. Science 280, 1271-1274
-
(1998)
Science
, vol.280
, pp. 1271-1274
-
-
Ford, C.E.1
Skiba, N.P.2
Bae, H.3
Daaka, Y.4
Reuveny, E.5
Shekter, L.R.6
Rosal, R.7
Weng, G.8
Yang, C.S.9
Iyengar, R.10
Miller, R.J.11
Jan, L.Y.12
Lefkowitz, R.J.13
Hamm, H.E.14
-
37
-
-
0031909974
-
Abnormal heart rate regulation in GIRK4 knockout mice
-
Wickman, K., Nemec, J., Gendler, S. J., and Clapham, D. E. (1998) Abnormal heart rate regulation in GIRK4 knockout mice. Neuron 20, 103-114
-
(1998)
Neuron
, vol.20
, pp. 103-114
-
-
Wickman, K.1
Nemec, J.2
Gendler, S.J.3
Clapham, D.E.4
-
39
-
-
17544398829
-
Clustering and enhanced activity of an inwardly rectifying potassium channel, Kir4.1, by an anchoring protein, PSD-95/ SAP90
-
Horio, Y., Hibino, H., Inanobe, A., Yamada, M., Ishii, M., Tada, Y., Satoh, E., Hata, Y., Takai, Y., and Kurachi, Y. (1997) Clustering and enhanced activity of an inwardly rectifying potassium channel, Kir4.1, by an anchoring protein, PSD-95/ SAP90. J. Biol. Chem. 272, 12885-12888
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 12885-12888
-
-
Horio, Y.1
Hibino, H.2
Inanobe, A.3
Yamada, M.4
Ishii, M.5
Tada, Y.6
Satoh, E.7
Hata, Y.8
Takai, Y.9
Kurachi, Y.10
-
40
-
-
16944364180
-
An ATP-dependent inwardly rectifying potassium channel, KAB-2 (Kir4. 1), in cochlear stria vascularis of inner ear: Its specific subcellular localization and correlation with the formation of endocochlear potential
-
Hibino, H., Horio, Y., Inanobe, A., Doi, K., Ito, M., Yamada, M., Gotow, T., Uchiyama, Y., Kawamura, M., Kubo, T., and Kurachi, Y. (1997) An ATP-dependent inwardly rectifying potassium channel, KAB-2 (Kir4. 1), in cochlear stria vascularis of inner ear: its specific subcellular localization and correlation with the formation of endocochlear potential. J. Neurosci. 17, 4711-4721
-
(1997)
J. Neurosci.
, vol.17
, pp. 4711-4721
-
-
Hibino, H.1
Horio, Y.2
Inanobe, A.3
Doi, K.4
Ito, M.5
Yamada, M.6
Gotow, T.7
Uchiyama, Y.8
Kawamura, M.9
Kubo, T.10
Kurachi, Y.11
-
41
-
-
0028933233
-
Cloning and functional characterization of a novel ATP-sensitive potassium channel ubiquitously expressed in rat tissues, including pancreatic islets, pituitary, skeletal muscle, and heart
-
Inagaki, N., Tsuura, Y., Namba, N., Masuda, K., Gonoi, T., Horie, M., Seino, Y., Mizuta, M., and Seino, S. (1995) Cloning and functional characterization of a novel ATP-sensitive potassium channel ubiquitously expressed in rat tissues, including pancreatic islets, pituitary, skeletal muscle, and heart. J. Biol. Chem. 270, 5691-5694
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 5691-5694
-
-
Inagaki, N.1
Tsuura, Y.2
Namba, N.3
Masuda, K.4
Gonoi, T.5
Horie, M.6
Seino, Y.7
Mizuta, M.8
Seino, S.9
-
42
-
-
0029024314
-
Cloning of the beta cell high-affinity sulfonylurea receptor: A regulator of insulin secretion
-
Aguilar-Bryan, L., Nichols, C. G., Wechsler, S. W., Clement, J. P., Boyd, A. E., Gonzalez, G., Herrera-Sosa, H., Nguy, K., Bryan, J., and Nelson, D. A. (1995) Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion. Science 268, 423-426
-
(1995)
Science
, vol.268
, pp. 423-426
-
-
Aguilar-Bryan, L.1
Nichols, C.G.2
Wechsler, S.W.3
Clement, J.P.4
Boyd, A.E.5
Gonzalez, G.6
Herrera-Sosa, H.7
Nguy, K.8
Bryan, J.9
Nelson, D.A.10
-
43
-
-
0030896647
-
+ channel
-
+ channel. J. Physiol. 499, 715-720
-
(1997)
J. Physiol.
, vol.499
, pp. 715-720
-
-
Yamada, M.1
Isomoto, S.2
Matsumoto, S.3
Kondo, C.4
Shindo, T.5
Horio, Y.6
Kurachi, Y.7
-
45
-
-
0033037098
-
ATP-sensitive potassium channels: A model of heteromultimeric potassium channel/receptor assemblies
-
Seino, S. (1999) ATP-sensitive potassium channels: a model of heteromultimeric potassium channel/receptor assemblies. Annu. Rev. Physiol. 61, 337-362
-
(1999)
Annu. Rev. Physiol.
, vol.61
, pp. 337-362
-
-
Seino, S.1
-
46
-
-
0030996141
-
ATP channel subunits
-
ATP channel subunits. Neuron 18, 827-838
-
(1997)
Neuron
, vol.18
, pp. 827-838
-
-
Clement, J.P.1
Kunjilwar, K.2
Gonzalez, G.3
Schwanstecher, M.4
Panten, U.5
Aguilar-Bryan, L.6
Bryan, J.7
-
50
-
-
0030671407
-
ATP channel
-
ATP channel. Proc. Natl. Acad. Sci. USA 94, 11969-11973
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.94
, pp. 11969-11973
-
-
Miki, T.1
Tashiro, F.2
Iwanaga, T.3
Nagashima, K.4
Yoshitomi, H.5
Aihara, H.6
Nitta, Y.7
Gonoi, T.8
Inagaki, N.9
Miyazaki, J.10
Seino, S.11
-
51
-
-
0141630107
-
Defective insulin secretion and enhanced insulin action in K-ATP channel-deficient mice
-
Miki, T., Nagashima, K., Tashiro, F., Kotake, K., Yoshitomi, H., Tamamoto, A., Gonoi, T., Iwanaga, T., Miyazaki, J., and Seino, S. (1998) Defective insulin secretion and enhanced insulin action in K-ATP channel-deficient mice. Proc. Natl. Acad. Sci. USA 95, 10402-10406
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 10402-10406
-
-
Miki, T.1
Nagashima, K.2
Tashiro, F.3
Kotake, K.4
Yoshitomi, H.5
Tamamoto, A.6
Gonoi, T.7
Iwanaga, T.8
Miyazaki, J.9
Seino, S.10
-
52
-
-
0031704523
-
Acquired resistance of a mammalian cell line to hypoxia-reoxygenation through cotransfection of Kir6.2 and SUR1 clones
-
Jovanovic, A., Jovanovic, S., Carrasco, A. J., and Terzic, A. (1998) Acquired resistance of a mammalian cell line to hypoxia-reoxygenation through cotransfection of Kir6.2 and SUR1 clones. Lab. Invest. 78, 1101-1107
-
(1998)
Lab. Invest.
, vol.78
, pp. 1101-1107
-
-
Jovanovic, A.1
Jovanovic, S.2
Carrasco, A.J.3
Terzic, A.4
-
53
-
-
0029898253
-
+ channels
-
+ channels. Neuron 16, 1011-1017
-
(1996)
Neuron
, vol.16
, pp. 1011-1017
-
-
Inagaki, N.1
Gonoi, T.2
Clement, J.P.3
Wang, C.Z.4
Aguilar-Bryan, L.5
Bryan, J.6
Seino, S.7
-
55
-
-
0021086270
-
+ channels in cardiac muscle
-
+ channels in cardiac muscle. Nature (London) 305, 147-148
-
(1983)
Nature (London)
, vol.305
, pp. 147-148
-
-
Noma, A.1
-
58
-
-
0029743412
-
+ channel
-
+ channel. J. Biol. Chem. 271, 24321-24324
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 24321-24324
-
-
Isomoto, S.1
Kondo, C.2
Yamada, M.3
Matsumoto, S.4
Higashiguchi, O.5
Horio, Y.6
Matsuzawa, Y.7
Kurachi, Y.8
-
59
-
-
85047680360
-
Nucleotide regulation of ATP sensitive potassium channels
-
Terzic, A., Tung, R. T., and Kurachi, Y. (1994) Nucleotide regulation of ATP sensitive potassium channels. Cardiovasc. Res. 28, 746-753
-
(1994)
Cardiovasc. Res.
, vol.28
, pp. 746-753
-
-
Terzic, A.1
Tung, R.T.2
Kurachi, Y.3
-
61
-
-
0030016913
-
Adenosine diphosphate as an intracellular regulator of insulin secretion
-
Nichols, C. G., Shyng, S. L., Nestorowicz, A., Glaser, B., Clement, J. P., Gonzalez, G., Aguilar-Bryan, L., Permutt, M. A., and Bryan, J. (1996) Adenosine diphosphate as an intracellular regulator of insulin secretion. Science 272, 1785-1787
-
(1996)
Science
, vol.272
, pp. 1785-1787
-
-
Nichols, C.G.1
Shyng, S.L.2
Nestorowicz, A.3
Glaser, B.4
Clement, J.P.5
Gonzalez, G.6
Aguilar-Bryan, L.7
Permutt, M.A.8
Bryan, J.9
-
65
-
-
0032525574
-
Molecular determinants of K-ATP channel inhibition by ATP
-
Tucker, S. J., Gribble, F. M., Proks, P., Trapp, S., Ryder, T. J., Haug, T., Reimann, F., and Ashcroft, F. M. (1998) Molecular determinants of K-ATP channel inhibition by ATP. EMBO J. 17, 3290-3296
-
(1998)
EMBO J.
, vol.17
, pp. 3290-3296
-
-
Tucker, S.J.1
Gribble, F.M.2
Proks, P.3
Trapp, S.4
Ryder, T.J.5
Haug, T.6
Reimann, F.7
Ashcroft, F.M.8
-
69
-
-
0031440266
-
Leptin inhibits hypothalamic neurons by activation of ATP-sensitive potassium channels
-
Spanswick, D., Smith, M. A., Groppi, V. E., Logan, S. D., and Ashford, M. L. (1997) Leptin inhibits hypothalamic neurons by activation of ATP-sensitive potassium channels. Nature (London) 390, 521-525
-
(1997)
Nature (London)
, vol.390
, pp. 521-525
-
-
Spanswick, D.1
Smith, M.A.2
Groppi, V.E.3
Logan, S.D.4
Ashford, M.L.5
-
70
-
-
0032053572
-
The sulfonylurea controversy: More questions from the heart
-
Brady, P. A., and Terzic, A. (1998) The sulfonylurea controversy: more questions from the heart. J. Am. Coll. Cardiol. 31, 950-956
-
(1998)
J. Am. Coll. Cardiol.
, vol.31
, pp. 950-956
-
-
Brady, P.A.1
Terzic, A.2
-
71
-
-
0030871221
-
Recent advances in potassium channel modulation
-
Edwards, G., and Weston, A. H. (1997) Recent advances in potassium channel modulation. Prog. Drug Res. 49, 93-121
-
(1997)
Prog. Drug Res.
, vol.49
, pp. 93-121
-
-
Edwards, G.1
Weston, A.H.2
-
72
-
-
0032189924
-
Potassium channel openers require ATP to bind to and act through sulfonylurea receptors
-
Schwanstecher, M., Sieverding, C., Dorschner, H., Gross, I., Aguilar-Bryan, L., Schwanstecher, C., and Bryan, J. (1998) Potassium channel openers require ATP to bind to and act through sulfonylurea receptors. EMBO J. 17, 5529-5535
-
(1998)
EMBO J.
, vol.17
, pp. 5529-5535
-
-
Schwanstecher, M.1
Sieverding, C.2
Dorschner, H.3
Gross, I.4
Aguilar-Bryan, L.5
Schwanstecher, C.6
Bryan, J.7
-
73
-
-
0019416744
-
Nesidioblastosis of the pancreas: Definition of the syndrome and the management of the severe neonatal hyperinsulinaemic hypoglycaemia
-
Aynsley-Green, A., Polak, J. M., Bloom, S. R., Gough, M. H., Keeling, J., Ashcroft, S. J., Turner, R. C., and Baum, J. D. (1981) Nesidioblastosis of the pancreas: definition of the syndrome and the management of the severe neonatal hyperinsulinaemic hypoglycaemia. Arch. Dis. Child. 56, 496-508
-
(1981)
Arch. Dis. Child.
, vol.56
, pp. 496-508
-
-
Aynsley-Green, A.1
Polak, J.M.2
Bloom, S.R.3
Gough, M.H.4
Keeling, J.5
Ashcroft, S.J.6
Turner, R.C.7
Baum, J.D.8
-
75
-
-
0030936881
-
Hyperinsulinism in infants and children
-
Stanley, C. A. (1997) Hyperinsulinism in infants and children. Pediatr. Clin. N. Am. 44, 363-374
-
(1997)
Pediatr. Clin. N. Am.
, vol.44
, pp. 363-374
-
-
Stanley, C.A.1
-
76
-
-
0028236583
-
Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene
-
Glaser, B., Chiu, K. C., Anker, R., Nestorowicz, A., Landau, H., Ben-Bassat, H., Shlomai, Z., Kaiser, N., Thornton, P. S., Stanley, C. A., Spielman, R. S., Gogolin-Ewens, K., Cerasi, E., Baker, L., Rice, J., Donis-Keller, H., and Permutt, M. A. (1994) Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene. Nat. Genet. 7, 185-188
-
(1994)
Nat. Genet.
, vol.7
, pp. 185-188
-
-
Glaser, B.1
Chiu, K.C.2
Anker, R.3
Nestorowicz, A.4
Landau, H.5
Ben-Bassat, H.6
Shlomai, Z.7
Kaiser, N.8
Thornton, P.S.9
Stanley, C.A.10
Spielman, R.S.11
Gogolin-Ewens, K.12
Cerasi, E.13
Baker, L.14
Rice, J.15
Donis-Keller, H.16
Permutt, M.A.17
-
77
-
-
0029021696
-
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy
-
Thomas, P. M., Cote, G. J., Wohllk, N., Haddad, B., Mathew, P. M., Rabl, W., Aguilar-Bryan, L., Gagel, R. F., and Bryan, J. (1995) Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 268, 426-429
-
(1995)
Science
, vol.268
, pp. 426-429
-
-
Thomas, P.M.1
Cote, G.J.2
Wohllk, N.3
Haddad, B.4
Mathew, P.M.5
Rabl, W.6
Aguilar-Bryan, L.7
Gagel, R.F.8
Bryan, J.9
-
78
-
-
0031802399
-
Genetic heterogeneity in familial hyperinsulinism
-
Nestorowicz, A., Glaser, B., Wilson, B. A., Shyng, S. L., Nichols, C. G., Stanley, C. A., Thornton, P. S., and Permutt, M. A. (1998) Genetic heterogeneity in familial hyperinsulinism. Hum. Mol. Genet. 7, 1119-1128
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1119-1128
-
-
Nestorowicz, A.1
Glaser, B.2
Wilson, B.A.3
Shyng, S.L.4
Nichols, C.G.5
Stanley, C.A.6
Thornton, P.S.7
Permutt, M.A.8
-
79
-
-
0029658788
-
ATP channels in pancreatic beta-cells causes persistent hyperinsulinemic hypoglycemia of infancy
-
ATP channels in pancreatic beta-cells causes persistent hyperinsulinemic hypoglycemia of infancy. Nature Med. 2, 1344-1347
-
(1996)
Nature Med.
, vol.2
, pp. 1344-1347
-
-
Kane, C.1
Shepherd, R.M.2
Squires, P.E.3
Johnson, P.R.4
James, R.F.5
Milla, P.J.6
Aynsley-Green, A.7
Lindley, K.J.8
Dunne, M.J.9
-
80
-
-
0031041271
-
Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor
-
Dunne, M. J., Kane, C., Shepherd, R. M., Sanchez, J. A., James, R. F., Johnson, P. R., Aynsley-Green, A., Lu, S., Clement, J. P., Lindley, K. J., Seino, S., and Aguilar-Bryan, L. (1997) Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor. N. Engl. J. Med. 336, 703-706
-
(1997)
N. Engl. J. Med.
, vol.336
, pp. 703-706
-
-
Dunne, M.J.1
Kane, C.2
Shepherd, R.M.3
Sanchez, J.A.4
James, R.F.5
Johnson, P.R.6
Aynsley-Green, A.7
Lu, S.8
Clement, J.P.9
Lindley, K.J.10
Seino, S.11
Aguilar-Bryan, L.12
-
81
-
-
0029658241
-
Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews
-
Nestorowicz, A., Wilson, B. A., Schoor, K. P., Inoue, H., Glaser, B., Landau, H., Stanley, C. A., Thornton, P. S., Clement, J. P., Bryan, J., Aguilar-Bryan, L., and Permutt, M. A. (1996) Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum. Mol. Genet. 5, 1813-1822
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1813-1822
-
-
Nestorowicz, A.1
Wilson, B.A.2
Schoor, K.P.3
Inoue, H.4
Glaser, B.5
Landau, H.6
Stanley, C.A.7
Thornton, P.S.8
Clement, J.P.9
Bryan, J.10
Aguilar-Bryan, L.11
Permutt, M.A.12
-
82
-
-
0029836983
-
Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy
-
Thomas, P., Ye, Y., and Lightner, E. (1996) Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum. Mol. Genet. 5, 1809-1812
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1809-1812
-
-
Thomas, P.1
Ye, Y.2
Lightner, E.3
-
83
-
-
15644367096
-
A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism
-
Nestorowicz, A., Inagaki, N., Gonoi, T., Schoor, K. P., Wilson, B. A., Glaser, B., Landau, H., Stanley, C. A., Thornton, P. S., Seino, S., and Permutt, M. A. (1997) A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. Diabetes 46, 1743-1748
-
(1997)
Diabetes
, vol.46
, pp. 1743-1748
-
-
Nestorowicz, A.1
Inagaki, N.2
Gonoi, T.3
Schoor, K.P.4
Wilson, B.A.5
Glaser, B.6
Landau, H.7
Stanley, C.A.8
Thornton, P.S.9
Seino, S.10
Permutt, M.A.11
-
84
-
-
0031799545
-
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy
-
Shyng, S. L., Ferrigni, T., Shepard, J. B., Nestorowicz, A., Glaser, B., Permutt, M. A., and Nichols, C. G. (1998) Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. Diabetes 47, 1145-1151
-
(1998)
Diabetes
, vol.47
, pp. 1145-1151
-
-
Shyng, S.L.1
Ferrigni, T.2
Shepard, J.B.3
Nestorowicz, A.4
Glaser, B.5
Permutt, M.A.6
Nichols, C.G.7
-
85
-
-
0032493123
-
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene
-
Stanley, C. A., Lieu, Y. K., Hsu, B. Y., Burlina, A. B., Greenberg, C. R., Hopwood, N. J., Perlman, K., Rich, B. H., Zammarchi, E., and Poncz, M. (1998) Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N. Engl. J. Med. 338, 1352-1357
-
(1998)
N. Engl. J. Med.
, vol.338
, pp. 1352-1357
-
-
Stanley, C.A.1
Lieu, Y.K.2
Hsu, B.Y.3
Burlina, A.B.4
Greenberg, C.R.5
Hopwood, N.J.6
Perlman, K.7
Rich, B.H.8
Zammarchi, E.9
Poncz, M.10
-
86
-
-
0033339417
-
Non-insulinoma pancreatogenous hypoglycemia: A novel syndrome of hyperinsulinemic hypoglycemia in adults independent of mutations in Kir6.2 and SUR1 genes
-
Service, F. J., Natt, N., Thompson, G. B., Grant, C. S., van Heerden, J. A., Andrews, J. C., Lorenz, E., Terzic, A., and Lloyd, R. V. (1999) Non-insulinoma pancreatogenous hypoglycemia: a novel syndrome of hyperinsulinemic hypoglycemia in adults independent of mutations in Kir6.2 and SUR1 genes. J. Clin. Endocrinol. Metabol. 84, 1582-1589
-
(1999)
J. Clin. Endocrinol. Metabol.
, vol.84
, pp. 1582-1589
-
-
Service, F.J.1
Natt, N.2
Thompson, G.B.3
Grant, C.S.4
Van Heerden, J.A.5
Andrews, J.C.6
Lorenz, E.7
Terzic, A.8
Lloyd, R.V.9
-
87
-
-
0030955295
-
Therapy for persistent hyperinsulinemic hypoglycemia of infancy. Understanding the responsiveness of beta cells to diazoxide and somatostatin
-
Kane, C., Lindley, K. J., Johnson, P. R., James, R. F., Milla, P. J., Aynsley-Green, A., and Dunne, M. J. (1997) Therapy for persistent hyperinsulinemic hypoglycemia of infancy. Understanding the responsiveness of beta cells to diazoxide and somatostatin. J. Clin. Invest. 100, 1888-1893
-
(1997)
J. Clin. Invest.
, vol.100
, pp. 1888-1893
-
-
Kane, C.1
Lindley, K.J.2
Johnson, P.R.3
James, R.F.4
Milla, P.J.5
Aynsley-Green, A.6
Dunne, M.J.7
-
88
-
-
0031972145
-
The molecular genetic approach to 'Bartter's syndrome.'
-
Karolyi, L., Koch, M. C., Grzeschik, K. H., and Seyberth, H. W. (1998) The molecular genetic approach to 'Bartter's syndrome.' J. Mol. Med. 76, 317-325
-
(1998)
J. Mol. Med.
, vol.76
, pp. 317-325
-
-
Karolyi, L.1
Koch, M.C.2
Grzeschik, K.H.3
Seyberth, H.W.4
-
89
-
-
0031974389
-
Ion transporter mutations in Gitelman's and Bartter's syndromes
-
Simon, D. B., and Lifton, R. P. (1998) Ion transporter mutations in Gitelman's and Bartter's syndromes. Curr. Opin. Nephrol. Hypertens. 7, 43-47
-
(1998)
Curr. Opin. Nephrol. Hypertens.
, vol.7
, pp. 43-47
-
-
Simon, D.B.1
Lifton, R.P.2
-
90
-
-
0030032699
-
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2
-
Simon, D. B., Karet, F. E., Hamdan, J. M., DiPietro, A., Sanjad, S. A., and Lifton, R. P. (1996) Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat. Genet. 13, 183-188
-
(1996)
Nat. Genet.
, vol.13
, pp. 183-188
-
-
Simon, D.B.1
Karet, F.E.2
Hamdan, J.M.3
DiPietro, A.4
Sanjad, S.A.5
Lifton, R.P.6
-
91
-
-
0030666975
-
A common NKCC2 mutation in Costa Rican Bartter's syndrome patients: Evidence for a founder effect
-
Kurtz, C. L., Karolyi, L., Seyberth, H. W., Koch, M. C., Vargas, R., Feldmann, D., Vollmer, M., Knoers, N. V., Madrigal, G., and Guay-Woodford, L. M. (1997) A common NKCC2 mutation in Costa Rican Bartter's syndrome patients: Evidence for a founder effect. J. Am. Soc. Nephrol. 8, 1706-1711
-
(1997)
J. Am. Soc. Nephrol.
, vol.8
, pp. 1706-1711
-
-
Kurtz, C.L.1
Karolyi, L.2
Seyberth, H.W.3
Koch, M.C.4
Vargas, R.5
Feldmann, D.6
Vollmer, M.7
Knoers, N.V.8
Madrigal, G.9
Guay-Woodford, L.M.10
-
92
-
-
16944366243
-
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
-
Simon, D. B., Bindra, R. S., Mansfield, T. A., Nelson-Williams, C., Mendonca, E., Stone, R., Schurman, S., Nayir, A., Alpay, H., Bakkaloglu, A., Rodriguez-Soriano, J., Morales, J. M., Sanjad, S. A., Taylor, C. M., Pilz, D., Brem, A., Trachtman, H., Griswold, W., Richard, G. A., John, E., and Lifton, R. P. (1997) Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat. Genet. 17, 171-178
-
(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..
-
93
-
-
0032145954
-
Mutations in Na(K)Cl transporters in Gitelmans and Bartters-syndromes
-
Simon, D. B., and Lifton, R. P. (1998) Mutations in Na(K)Cl transporters in Gitelmans and Bartters-syndromes. Curr. Opin. Cell Biol. 10, 450-454
-
(1998)
Curr. Opin. Cell Biol.
, vol.10
, pp. 450-454
-
-
Simon, D.B.1
Lifton, R.P.2
-
94
-
-
0029794875
-
+ channel, ROMK
-
+ channel, ROMK. Nat. Genet. 14, 152-156
-
(1996)
Nat. Genet.
, vol.14
, pp. 152-156
-
-
Simon, D.B.1
Karet, F.E.2
Rodriguez-Soriano, J.3
Hamdan, J.H.4
DiPietro, A.5
Trachtman, H.6
Sanjad, S.A.7
Lifton, R.P.8
-
95
-
-
0031584084
-
+ channel function
-
+ channel function. Biochem. Biophys. Res. Commun. 230, 641-645
-
(1997)
Biochem. Biophys. Res. Commun.
, vol.230
, pp. 641-645
-
-
Derst, C.1
Konrad, M.2
Kockerling, A.3
Karolyi, L.4
Deschenes, G.5
Daut, J.6
Karschin, A.7
Seyberth, H.W.8
-
96
-
-
0031803541
-
Functional consequences of ROMK mutants linked to antenatal Bartter's syndrome and implications for treatment
-
Schwalbe, R. A., Bianchi, L., Accili, E. A., and Brown, A. M. (1998) Functional consequences of ROMK mutants linked to antenatal Bartter's syndrome and implications for treatment. Hum. Mol. Genet. 7, 975-980
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 975-980
-
-
Schwalbe, R.A.1
Bianchi, L.2
Accili, E.A.3
Brown, A.M.4
-
97
-
-
0029115971
-
A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation
-
Patil, N., Cox, D. R., Bhat, D., Faham, M., Myers, R. M., and Peterson, A. S. (1995) A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation. Nat. Genet. 11, 126-129
-
(1995)
Nat. Genet.
, vol.11
, pp. 126-129
-
-
Patil, N.1
Cox, D.R.2
Bhat, D.3
Faham, M.4
Myers, R.M.5
Peterson, A.S.6
-
99
-
-
0029941292
-
+ channel and rescue of weaver granule cells
-
+ channel and rescue of weaver granule cells. Neuron 16, 941-952
-
(1996)
Neuron
, vol.16
, pp. 941-952
-
-
Kofuji, P.1
Hofer, M.2
Millen, K.J.3
Millonig, J.H.4
Davidson, N.5
Lester, H.A.6
Hatten, M.E.7
-
101
-
-
0344338840
-
wvKir3.2: Implications for the weaver mouse
-
Navarro, B., Corey, S. A., Kennedy, M., and Clapham, D. E. (1999) wvKir3.2: Implications for the Weaver mouse. Curr. Top. Membr. 46, 295-320
-
(1999)
Curr. Top. Membr.
, vol.46
, pp. 295-320
-
-
Navarro, B.1
Corey, S.A.2
Kennedy, M.3
Clapham, D.E.4
|