메뉴 건너뛰기




Volumn 336, Issue 22, 1997, Pages 1575-1586

Mechanisms of disease: Ion channels - Basic science and clinical disease

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN; ION CHANNEL; POTASSIUM CHANNEL; CELL SURFACE RECEPTOR; PURINE P2 RECEPTOR;

EID: 0031589944     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199705293362207     Document Type: Review
Times cited : (322)

References (67)
  • 2
    • 0030071326 scopus 로고    scopus 로고
    • The long QT syndrome: A review of recent molecular genetic and physiologic discoveries
    • Keating MT. The long QT syndrome: a review of recent molecular genetic and physiologic discoveries. Medicine (Baltimore) 1996;75:1-5.
    • (1996) Medicine (Baltimore) , vol.75 , pp. 1-5
    • Keating, M.T.1
  • 3
    • 0027946089 scopus 로고
    • Liddle's syndrome: Heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel
    • Shimkets RA, Warnock DG, Bositis CM, et al. Liddle's syndrome: heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel. Cell 1994;79:407-14.
    • (1994) Cell , vol.79 , pp. 407-414
    • Shimkets, R.A.1    Warnock, D.G.2    Bositis, C.M.3
  • 4
    • 0029591506 scopus 로고
    • Mechanism by which Liddie's syndrome mutations increase activity of a human epithelial Na+ channel
    • Snyder PM, Price MP, McDonald FJ, et al. Mechanism by which Liddie's syndrome mutations increase activity of a human epithelial Na+ channel. Cell 1995;83:969-78.
    • (1995) Cell , vol.83 , pp. 969-978
    • Snyder, P.M.1    Price, M.P.2    McDonald, F.J.3
  • 5
    • 0029021696 scopus 로고
    • Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy
    • Thomas PM, Cote GJ, Wohllk N, et al. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 1995;268:426-9.
    • (1995) Science , vol.268 , pp. 426-429
    • Thomas, P.M.1    Cote, G.J.2    Wohllk, N.3
  • 6
    • 0031041271 scopus 로고    scopus 로고
    • Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor
    • Dunne MJ, Kane C, Shepherd RM, et al. Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor. N Engl J Med 1997;336:703-6.
    • (1997) N Engl J Med , vol.336 , pp. 703-706
    • Dunne, M.J.1    Kane, C.2    Shepherd, R.M.3
  • 7
    • 0028970139 scopus 로고
    • The skeletal muscle sodium and chloride channel diseases
    • Hudson AJ, Ebers GC, Bulman DE. The skeletal muscle sodium and chloride channel diseases. Brain 1995;118:547-63.
    • (1995) Brain , vol.118 , pp. 547-563
    • Hudson, A.J.1    Ebers, G.C.2    Bulman, D.E.3
  • 8
    • 0026705098 scopus 로고
    • The skeletal muscle chloride channel in dominant and recessive human myotonia
    • Koch MC, Steinmeyer K, Lorenz C, et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 1992;257: 797-800.
    • (1992) Science , vol.257 , pp. 797-800
    • Koch, M.C.1    Steinmeyer, K.2    Lorenz, C.3
  • 9
    • 0028041274 scopus 로고
    • Role of ryanodine receptors
    • Ogawa Y. Role of ryanodine receptors. Crit Rev Biochem Mol Biol 1994;29:229-74.
    • (1994) Crit Rev Biochem Mol Biol , vol.29 , pp. 229-274
    • Ogawa, Y.1
  • 10
    • 0019441262 scopus 로고
    • Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches
    • Hamill OP, Marty A, Neher E, Sakmann B, Sigworth FJ. Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches. Pflugers Arch 1981;391:85-100.
    • (1981) Pflugers Arch , vol.391 , pp. 85-100
    • Hamill, O.P.1    Marty, A.2    Neher, E.3    Sakmann, B.4    Sigworth, F.J.5
  • 11
    • 0021777414 scopus 로고
    • The biosynthesis of biologically active proteins in mRNA-microinjected Xenopus oocytes
    • Soreq H. The biosynthesis of biologically active proteins in mRNA-microinjected Xenopus oocytes. CRC Crit Rev Biochem 1985;18: 199-238.
    • (1985) CRC Crit Rev Biochem , vol.18 , pp. 199-238
    • Soreq, H.1
  • 12
    • 0028835235 scopus 로고
    • Topology of the pore-region of a K+ channel revealed by the NMR-derived structures of scorpion toxins
    • Aiyar J, Withka JM, Rizzi JP, et al. Topology of the pore-region of a K+ channel revealed by the NMR-derived structures of scorpion toxins. Neuron 1995;15:1169-81.
    • (1995) Neuron , vol.15 , pp. 1169-1181
    • Aiyar, J.1    Withka, J.M.2    Rizzi, J.P.3
  • 13
    • 0024280869 scopus 로고
    • Structure and function of voltage-sensitive ion channels
    • Catterall WA. Structure and function of voltage-sensitive ion channels. Science 1988;242:50-61.
    • (1988) Science , vol.242 , pp. 50-61
    • Catterall, W.A.1
  • 14
    • 0026734109 scopus 로고
    • Tracing the roots of ion channels
    • Jan LY, Jan YN. Tracing the roots of ion channels. Cell 1992;69:7158.
    • (1992) Cell , vol.69 , pp. 7158
    • Jan, L.Y.1    Jan, Y.N.2
  • 15
    • 0025224223 scopus 로고
    • Biophysical and molecular mechanisms of Shaker potassium channel inactivation
    • Hoshi T, Zagotta WN, Aldrich RW. Biophysical and molecular mechanisms of Shaker potassium channel inactivation. Science 1990;250: 533-8.
    • (1990) Science , vol.250 , pp. 533-538
    • Hoshi, T.1    Zagotta, W.N.2    Aldrich, R.W.3
  • 16
    • 0028093476 scopus 로고
    • Potassium channels and their evolving gates
    • Jan LY, Jan YN. Potassium channels and their evolving gates. Nature 1994;371:119-22.
    • (1994) Nature , vol.371 , pp. 119-122
    • Jan, L.Y.1    Jan, Y.N.2
  • 18
    • 0024453308 scopus 로고
    • Identification of the cystic fibrosis gene: Chromosome walking and jumping
    • Kommens JM, Iannuzzi MC, Kerem B-S, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989;245: 1059-65.
    • (1989) Science , vol.245 , pp. 1059-1065
    • Kommens, J.M.1    Iannuzzi, M.C.2    Kerem, B.-S.3
  • 19
    • 0024424270 scopus 로고
    • Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
    • Erratum, Science 1989;245:1437
    • Riordan JR, Rommens JM, Kerem BS, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989;245:1066-73. [Erratum, Science 1989;245:1437.]
    • (1989) Science , vol.245 , pp. 1066-1073
    • Riordan, J.R.1    Rommens, J.M.2    Kerem, B.S.3
  • 20
    • 0024423668 scopus 로고
    • Identification of the cystic fibrosis gene: Genetic analysis
    • Kerem B-S, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989;245:1073-80.
    • (1989) Science , vol.245 , pp. 1073-1080
    • Kerem, B.-S.1    Rommens, J.M.2    Buchanan, J.A.3
  • 21
    • 0026523829 scopus 로고
    • Cystic fibrosis: Molecular biology and therapeutic implications
    • Collins FS. Cystic fibrosis: molecular biology and therapeutic implications. Science 1992;256:774-9.
    • (1992) Science , vol.256 , pp. 774-779
    • Collins, F.S.1
  • 22
    • 0025242929 scopus 로고
    • Defective intracellular transport and processing of CFTR is the molecular basis for most cystic fibrosis
    • Cheng SH, Gregory RJ, Marshall J, et al. Defective intracellular transport and processing of CFTR is the molecular basis for most cystic fibrosis. Cell 1990;63:827-34.
    • (1990) Cell , vol.63 , pp. 827-834
    • Cheng, S.H.1    Gregory, R.J.2    Marshall, J.3
  • 23
    • 0027162649 scopus 로고
    • Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis
    • Welsh MJ, Smith AE. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 1993;73:1251-4.
    • (1993) Cell , vol.73 , pp. 1251-1254
    • Welsh, M.J.1    Smith, A.E.2
  • 24
    • 0028220333 scopus 로고
    • Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations
    • Dean M, Santis G. Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations. Hum Genet 1994;93:364-8.
    • (1994) Hum Genet , vol.93 , pp. 364-368
    • Dean, M.1    Santis, G.2
  • 25
    • 0029003982 scopus 로고
    • A cystic fibrosis mutation associated with mild lung disease
    • Gan K-H, Veeze HJ, van den Ouweland AMW, et al. A cystic fibrosis mutation associated with mild lung disease. N Engl J Med 1995;333:95-9.
    • (1995) N Engl J Med , vol.333 , pp. 95-99
    • Gan, K.-H.1    Veeze, H.J.2    Van den Ouweland, A.M.W.3
  • 26
    • 0026562867 scopus 로고
    • Congenital bilateral absence of the vas deferens: A primarily genital form of cystic fibrosis
    • Anguiano A, Gates RD, Amos JA, et al. Congenital bilateral absence of the vas deferens: a primarily genital form of cystic fibrosis. JAMA 1992; 267:1794-7
    • (1992) JAMA , vol.267 , pp. 1794-1797
    • Anguiano, A.1    Gates, R.D.2    Amos, J.A.3
  • 27
    • 0029934215 scopus 로고    scopus 로고
    • Management of pulmonary disease in patients with cystic fibrosis
    • Ramsey BW. Management of pulmonary disease in patients with cystic fibrosis. N Engl J Med 1996;335:179-88.
    • (1996) N Engl J Med , vol.335 , pp. 179-188
    • Ramsey, B.W.1
  • 28
    • 0028947558 scopus 로고
    • Gene therapy for cystic fibrosis: A clinical perspective
    • Alton EW, Geddes DM. Gene therapy for cystic fibrosis: a clinical perspective. Gene Ther 1995;2:88-95.
    • (1995) Gene Ther , vol.2 , pp. 88-95
    • Alton, E.W.1    Geddes, D.M.2
  • 30
    • 0029994529 scopus 로고    scopus 로고
    • Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations
    • Howard M, Frizzel RA, Bedwell DM, Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat Med 1996;2:467-9.
    • (1996) Nat Med , vol.2 , pp. 467-469
    • Howard, M.1    Frizzel, R.A.2    Bedwell, D.M.3
  • 31
    • 0030042386 scopus 로고    scopus 로고
    • Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation
    • Sato S, Ward CL, Krouse ME, Wine JJ, Kopito RR. Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation. J Biol Chem 1996;271:635-8.
    • (1996) J Biol Chem , vol.271 , pp. 635-638
    • Sato, S.1    Ward, C.L.2    Krouse, M.E.3    Wine, J.J.4    Kopito, R.R.5
  • 32
    • 0028057974 scopus 로고
    • The lung amiloride-sensitive Na+ channel: Biophysical properties, pharmacology, ontogenesis, and molecular cloning
    • Voilley N, Lingueglia E, Champigny G, et al. The lung amiloride-sensitive Na+ channel: biophysical properties, pharmacology, ontogenesis, and molecular cloning, Proc Nat] Acad Sci U S A 1994;91:247-51.
    • (1994) Proc Nat Acad Sci U S A , vol.91 , pp. 247-251
    • Voilley, N.1    Lingueglia, E.2    Champigny, G.3
  • 33
    • 0028812220 scopus 로고
    • Pharmacologic treatment of abnormal ion transport in the airway epithelium in cystic fibrosis
    • Knowles MR, Olivier KN, Hohneker KW, Robinson J, Bennett WD, Boucher RC. Pharmacologic treatment of abnormal ion transport in the airway epithelium in cystic fibrosis. Chest 1995;107:Suppl:71S-76S.
    • (1995) Chest , vol.107 , Issue.SUPPL.
    • Knowles, M.R.1    Olivier, K.N.2    Hohneker, K.W.3    Robinson, J.4    Bennett, W.D.5    Boucher, R.C.6
  • 34
    • 0025874599 scopus 로고
    • Activation by extracellular nucleotides of chloride secretion in the airway epithelia of patients with cystic fibrosis
    • Knowles MR, Clarke LL, Boucher RC. Activation by extracellular nucleotides of chloride secretion in the airway epithelia of patients with cystic fibrosis. N Engl J Med 1991;325:533-8.
    • (1991) N Engl J Med , vol.325 , pp. 533-538
    • Knowles, M.R.1    Clarke, L.L.2    Boucher, R.C.3
  • 36
    • 0029847602 scopus 로고    scopus 로고
    • Multiple mechanisms in the long-QT syndrome: Current knowledge, gaps, and future directions
    • Roden DM, Lazzara R, Rosen M, Schwartz PJ, Towbin J, Vincent GM. Multiple mechanisms in the long-QT syndrome: current knowledge, gaps, and future directions. Circulation 1996;94:1996-2012.
    • (1996) Circulation , vol.94 , pp. 1996-2012
    • Roden, D.M.1    Lazzara, R.2    Rosen, M.3    Schwartz, P.J.4    Towbin, J.5    Vincent, G.M.6
  • 38
    • 49749174698 scopus 로고
    • Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval, and sudden death
    • Jervell A, Lange-Nielsen F. Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval, and sudden death. Am Heart J 1957;54:59-68.
    • (1957) Am Heart J , vol.54 , pp. 59-68
    • Jervell, A.1    Lange-Nielsen, F.2
  • 39
    • 75549109609 scopus 로고
    • Aritmie cardiache rare dell'eta' pediatrica
    • Romano C, Gemme G, Pongiglione R. Aritmie cardiache rare dell'eta' pediatrica. Clin Pediatr 1963;45:656-83.
    • (1963) Clin Pediatr , vol.45 , pp. 656-683
    • Romano, C.1    Gemme, G.2    Pongiglione, R.3
  • 40
    • 0000387603 scopus 로고
    • A new familial cardiac syndrome in children
    • Ward OC. A new familial cardiac syndrome in children. J Ir Med Assoc 1964;54:103-6.
    • (1964) J Ir Med Assoc , vol.54 , pp. 103-106
    • Ward, O.C.1
  • 41
    • 9044240040 scopus 로고    scopus 로고
    • Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
    • Wang Q, Curran ME, Splawski I, et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 1996;12:17-23.
    • (1996) Nat Genet , vol.12 , pp. 17-23
    • Wang, Q.1    Curran, M.E.2    Splawski, I.3
  • 46
    • 0030025308 scopus 로고    scopus 로고
    • The inward rectification mechanism of the HERG cardiac potassium channel
    • Smith PL, Baukrowitz T, Yellen G. The inward rectification mechanism of the HERG cardiac potassium channel. Nature 1996;379:833-6.
    • (1996) Nature , vol.379 , pp. 833-836
    • Smith, P.L.1    Baukrowitz, T.2    Yellen, G.3
  • 47
    • 0028905566 scopus 로고
    • SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
    • Wang Q, Shen J, Splawski I, et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995;80: 805-11.
    • (1995) Cell , vol.80 , pp. 805-811
    • Wang, Q.1    Shen, J.2    Splawski, I.3
  • 48
    • 0029097799 scopus 로고
    • Molecular mechanism for an inherited cardiac arrhythmia
    • Bennett PB, Yazawa K, Makita N, George AL Jr. Molecular mechanism for an inherited cardiac arrhythmia. Nature 1995;376:683-5.
    • (1995) Nature , vol.376 , pp. 683-685
    • Bennett, P.B.1    Yazawa, K.2    Makita, N.3    George Jr., A.L.4
  • 49
    • 0029988774 scopus 로고    scopus 로고
    • Multiple mechanisms of Na+ channel-linked long-QT syndrome
    • Dumaine R, Wang Q, Keating MT, et al. Multiple mechanisms of Na+ channel-linked long-QT syndrome. Circ Res 1996;78:916-24.
    • (1996) Circ Res , vol.78 , pp. 916-924
    • Dumaine, R.1    Wang, Q.2    Keating, M.T.3
  • 50
    • 0028819671 scopus 로고
    • Mapping of a gene for long QT syndrome to chromosome 4q25-27
    • Schott J-J, Charpentier F, Peltier S, et al. Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am J Hum Genet 1995;57:111422.
    • (1995) Am J Hum Genet , vol.57 , pp. 111422
    • Schott, J.-J.1    Charpentier, F.2    Peltier, S.3
  • 51
    • 0029831629 scopus 로고    scopus 로고
    • Genetically defined therapy of inherited long-QT syndrome: Correction of abnormal repolarization by potassium
    • Compton SJ, Lux RL, Ramsey MR, et al. Genetically defined therapy of inherited long-QT syndrome: correction of abnormal repolarization by potassium. Circulation 1996;94:1018-22.
    • (1996) Circulation , vol.94 , pp. 1018-1022
    • Compton, S.J.1    Lux, R.L.2    Ramsey, M.R.3
  • 52
    • 0028874658 scopus 로고
    • Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate: Implications for gene-specific therapy
    • Schwartz PJ, Priori SG, Locati EH, et al. Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate: implications for gene-specific therapy. Circulation 1995;92:3381-6.
    • (1995) Circulation , vol.92 , pp. 3381-3386
    • Schwartz, P.J.1    Priori, S.G.2    Locati, E.H.3
  • 53
    • 0028972501 scopus 로고
    • KATP: An inward rectifier subunit plus the sulfonylurea receptor
    • KATP: an inward rectifier subunit plus the sulfonylurea receptor. Science 1995;270: 1166-70.
    • (1995) Science , vol.270 , pp. 1166-1170
    • Inagaki, N.1    Gonoi, T.2    Clement IV, J.P.3
  • 54
    • 0029024314 scopus 로고
    • Cloning of the β cell high-affinity sulfonylurea receptor: A regulator of insulin secretion
    • Aguilar-Bryan L, Nichols CG, Wechsler SW, et al. Cloning of the β cell high-affinity sulfonylurea receptor: a regulator of insulin secretion. Science 1995;268:423-6.
    • (1995) Science , vol.268 , pp. 423-426
    • Aguilar-Bryan, L.1    Nichols, C.G.2    Wechsler, S.W.3
  • 55
    • 0028873314 scopus 로고
    • Cardiac ATP-sensitive K+ channels: Regulation by intracellular nucleotides and K+ channel-opening drugs
    • Terzic A, Jahangir A, Kurachi Y. Cardiac ATP-sensitive K+ channels: regulation by intracellular nucleotides and K+ channel-opening drugs. Am J Physiol 1995;269:C525-C545.
    • (1995) Am J Physiol , vol.269
    • Terzic, A.1    Jahangir, A.2    Kurachi, Y.3
  • 56
    • 0023911193 scopus 로고
    • Adenosine 5′-triphosphate-sensitive potassium channels
    • Ashcroft FM. Adenosine 5′-triphosphate-sensitive potassium channels. Annu Rev Neurosci 1988;11:97-118.
    • (1988) Annu Rev Neurosci , vol.11 , pp. 97-118
    • Ashcroft, F.M.1
  • 58
    • 0029908195 scopus 로고    scopus 로고
    • Potassium channel openers prevent potassium-induced calcium loading of cardiac cells: Possible implications in cardioplegia
    • Lopez JR, Jahangir R, Jahangir A, Shen WK, Terzic A. Potassium channel openers prevent potassium-induced calcium loading of cardiac cells: possible implications in cardioplegia. J Thorac Cardiovasc Surg 1996; 112:820-31.
    • (1996) J Thorac Cardiovasc Surg , vol.112 , pp. 820-831
    • Lopez, J.R.1    Jahangir, R.2    Jahangir, A.3    Shen, W.K.4    Terzic, A.5
  • 60
    • 0027990796 scopus 로고
    • Therapeutic potential of potassium channel activators in coronary heart disease
    • Haeusler G, Lues I. Therapeutic potential of potassium channel activators in coronary heart disease. Eur Heart J 1994;15:Suppl C:82-8.
    • (1994) Eur Heart J , vol.15 , Issue.SUPPL. C , pp. 82-88
    • Haeusler, G.1    Lues, I.2
  • 61
    • 0028912946 scopus 로고
    • Mechanisms of adenosinc-mediated actions on cellular and clinical cardiac electrophysiology
    • Shen W-K, Kurachi Y. Mechanisms of adenosinc-mediated actions on cellular and clinical cardiac electrophysiology. Mayo Clin Proc 1995;70: 274-91.
    • (1995) Mayo Clin Proc , vol.70 , pp. 274-291
    • Shen, W.-K.1    Kurachi, Y.2
  • 62
    • 85047678499 scopus 로고
    • Cardiac electrophysiology and pharmacology of adenosine: Basic and clinical aspects
    • Pelleg A, Belardinelli L. Cardiac electrophysiology and pharmacology of adenosine: basic and clinical aspects. Cardiovasc Res 1993;27:54-61.
    • (1993) Cardiovasc Res , vol.27 , pp. 54-61
    • Pelleg, A.1    Belardinelli, L.2
  • 63
    • 0027480479 scopus 로고
    • The therapeutic and diagnostic cardiac electrophysiological uses of adenosine
    • Malcolm AD, Garratt CJ, Camm AJ. The therapeutic and diagnostic cardiac electrophysiological uses of adenosine. Cardiovasc Drugs Ther 1993;7:139-47.
    • (1993) Cardiovasc Drugs Ther , vol.7 , pp. 139-147
    • Malcolm, A.D.1    Garratt, C.J.2    Camm, A.J.3
  • 64
    • 0028820687 scopus 로고
    • Ion channel regulation by G proteins
    • Wickman K, Clapham DE. Ion channel regulation by G proteins. Physiol Rev 1995;75:865-85.
    • (1995) Physiol Rev , vol.75 , pp. 865-885
    • Wickman, K.1    Clapham, D.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.