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Volumn 45, Issue 4, 2000, Pages 971-980

Novel mutations in KvLQT1 that affect I(ks) activation through interactions with Isk

Author keywords

Congenital defects; Ion channels; K channel; Long QT syndrome; Ventricular arrhythmias

Indexed keywords

POTASSIUM CHANNEL;

EID: 0033969369     PISSN: 00086363     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0008-6363(99)00411-3     Document Type: Article
Times cited : (103)

References (36)
  • 1
    • 0031978985 scopus 로고    scopus 로고
    • The molecular genetics of the long QT syndrome: Genes causing fainting and sudden death
    • Vincent G.M. The molecular genetics of the long QT syndrome: Genes causing fainting and sudden death. Annu Rev Med. 49:1998;263-274.
    • (1998) Annu Rev Med , vol.49 , pp. 263-274
    • Vincent, G.M.1
  • 2
    • 0033537474 scopus 로고    scopus 로고
    • Genetic and molecular basis of cardiac arrhythmias: Impact on clinical management part III
    • Priori S.G., Barhanin J., Hauer R.N., et al. Genetic and molecular basis of cardiac arrhythmias: impact on clinical management part III. Circulation. 99:1999;674-681.
    • (1999) Circulation , vol.99 , pp. 674-681
    • Priori, S.G.1    Barhanin, J.2    Hauer, R.N.3
  • 3
    • 0033514256 scopus 로고    scopus 로고
    • Genetic and molecular basis of cardiac arrhythmias: Impact on clinical management parts I and II
    • Priori S.G., Barhanin J., Hauer R.N., et al. Genetic and molecular basis of cardiac arrhythmias: impact on clinical management parts I and II. Circulation. 99:1999;518-528.
    • (1999) Circulation , vol.99 , pp. 518-528
    • Priori, S.G.1    Barhanin, J.2    Hauer, R.N.3
  • 4
    • 50549220479 scopus 로고
    • Congenital cardiac arrhythmia (Letter)
    • Romano C. Congenital cardiac arrhythmia (Letter). Lancet. 1:1965;658-659.
    • (1965) Lancet , vol.1 , pp. 658-659
    • Romano, C.1
  • 5
    • 0000387603 scopus 로고
    • A new familial cardiac syndrome in children
    • Ward O.C. A new familial cardiac syndrome in children. J Irish Med Assoc. 54:1964;103-106.
    • (1964) J Irish Med Assoc , vol.54 , pp. 103-106
    • Ward, O.C.1
  • 6
    • 49749174698 scopus 로고
    • Congenital deaf-mutism, functional heart disease with prolongation of Q-T interval and sudden death
    • Jervell A., Lange-Nielsen F. Congenital deaf-mutism, functional heart disease with prolongation of Q-T interval and sudden death. Am Heart J. 54:1957;59-68.
    • (1957) Am Heart J , vol.54 , pp. 59-68
    • Jervell, A.1    Lange-Nielsen, F.2
  • 7
    • 0028905566 scopus 로고
    • SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
    • Wang Q., Shen J.X., Splawski I., et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell. 80:1995;805-811.
    • (1995) Cell , vol.80 , pp. 805-811
    • Wang, Q.1    Shen, J.X.2    Splawski, I.3
  • 9
    • 0033574273 scopus 로고    scopus 로고
    • MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia [in process citation]
    • Abbott G.W., Sesti F., Splawski I., et al. MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia [in process citation]. Cell. 97:1999;175-187.
    • (1999) Cell , vol.97 , pp. 175-187
    • Abbott, G.W.1    Sesti, F.2    Splawski, I.3
  • 10
    • 9044240040 scopus 로고    scopus 로고
    • Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
    • Wang Q., Curran M.E., Splawski I., et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nature Genet. 12:1996;17-23.
    • (1996) Nature Genet , vol.12 , pp. 17-23
    • Wang, Q.1    Curran, M.E.2    Splawski, I.3
  • 12
    • 0029952101 scopus 로고    scopus 로고
    • K(v)LQT1 and IsK (minK) proteins associate to form the IKs cardiac potassium current
    • Barhanin J., Lesage F., Guillemare E., Fink M., Lazdunski M., Romey G. K(v)LQT1 and IsK (minK) proteins associate to form the IKs cardiac potassium current. Nature. 384:1996;78-80.
    • (1996) Nature , vol.384 , pp. 78-80
    • Barhanin, J.1    Lesage, F.2    Guillemare, E.3    Fink, M.4    Lazdunski, M.5    Romey, G.6
  • 13
    • 0029854263 scopus 로고    scopus 로고
    • Coassembly of K(v)LQT1 and MinK (IsK) proteins to form cardiac IKs potassium channel
    • Sanguinetti M.C., Curran M.E., Zou A., et al. Coassembly of K(v)LQT1 and MinK (IsK) proteins to form cardiac IKs potassium channel. Nature. 384:1996;80-83.
    • (1996) Nature , vol.384 , pp. 80-83
    • Sanguinetti, M.C.1    Curran, M.E.2    Zou, A.3
  • 14
    • 0028002623 scopus 로고
    • + secretion in vestibular dark cells - special communication
    • + secretion in vestibular dark cells - special communication. Am J Physiol. 267:1994;C857-C864.
    • (1994) Am J Physiol , vol.267
    • Marcus, D.C.1    Shen, Z.J.2
  • 15
    • 0030461289 scopus 로고    scopus 로고
    • Inner ear defects induced by null mutation of the IsK gene
    • Vetter D.E., Mann J.R., Wangemann P., et al. Inner ear defects induced by null mutation of the IsK gene. Neuron. 17:1996;1251-1264.
    • (1996) Neuron , vol.17 , pp. 1251-1264
    • Vetter, D.E.1    Mann, J.R.2    Wangemann, P.3
  • 16
    • 0031054075 scopus 로고    scopus 로고
    • A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
    • Neyroud N., Tesson F., Denjoy I., et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nature Genet. 15:1997;186-189.
    • (1997) Nature Genet. , vol.15 , pp. 186-189
    • Neyroud, N.1    Tesson, F.2    Denjoy, I.3
  • 18
    • 13144267750 scopus 로고    scopus 로고
    • Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome
    • Neyroud N., Denjoy I., Donger C., et al. Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome. Eur J Human Genet. 6:1998;129-133.
    • (1998) Eur J Human Genet , vol.6 , pp. 129-133
    • Neyroud, N.1    Denjoy, I.2    Donger, C.3
  • 19
    • 0031936234 scopus 로고    scopus 로고
    • Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome
    • Duggal P., Vesely M.R., Wattanasirichaigoon D., et al. Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Circulation. 97:1998;142-146.
    • (1998) Circulation , vol.97 , pp. 142-146
    • Duggal, P.1    Vesely, M.R.2    Wattanasirichaigoon, D.3
  • 20
    • 0031278313 scopus 로고    scopus 로고
    • KCNE1 mutations cause jervell and Lange-Nielsen syndrome [letter]
    • Schulze-Bahr E., Wang Q., Wedekind H., et al. KCNE1 mutations cause jervell and Lange-Nielsen syndrome [letter]. Nature Genet. 17:1997;267-268.
    • (1997) Nature Genet , vol.17 , pp. 267-268
    • Schulze-Bahr, E.1    Wang, Q.2    Wedekind, H.3
  • 21
    • 9844261701 scopus 로고    scopus 로고
    • IsK and KvLQT1: Mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome
    • Tyson J., Tranebjærg L., Bellman S., et al. IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum Mol Genet. 6:1997;2179-2185.
    • (1997) Hum Mol Genet , vol.6 , pp. 2179-2185
    • Tyson, J.1    Tranebjærg, L.2    Bellman, S.3
  • 24
    • 19244371485 scopus 로고    scopus 로고
    • KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome
    • Donger C., Denjoy I., Berthet M., et al. KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation. 96:1997;2778-2781.
    • (1997) Circulation , vol.96 , pp. 2778-2781
    • Donger, C.1    Denjoy, I.2    Berthet, M.3
  • 25
    • 0030796370 scopus 로고    scopus 로고
    • Dominant-negative K nu LQT1 mutations underlie the LQT1 form of long QT syndrome
    • Shalaby F.Y., Levesque P.C., Yang W.P., et al. Dominant-negative K nu LQT1 mutations underlie the LQT1 form of long QT syndrome. Circulation. 96:1997;1733-1736.
    • (1997) Circulation , vol.96 , pp. 1733-1736
    • Shalaby, F.Y.1    Levesque, P.C.2    Yang, W.P.3
  • 27
    • 0032560610 scopus 로고    scopus 로고
    • A recessive variant of the Romano-Ward Long-QT syndrome?
    • Priori S.G., Schwartz P.J., Napolitano C., et al. A recessive variant of the Romano-Ward Long-QT syndrome? Circulation. 97:1998;2420-2425.
    • (1998) Circulation , vol.97 , pp. 2420-2425
    • Priori, S.G.1    Schwartz, P.J.2    Napolitano, C.3
  • 28
    • 0032189139 scopus 로고    scopus 로고
    • Influence of the genotype on the clinical course of the long-QT syndrome
    • Zareba W., Moss A.J., Schwartz P.J., et al. Influence of the genotype on the clinical course of the long-QT syndrome. New Engl J Med. 339:1998;960-965.
    • (1998) New Engl J Med , vol.339 , pp. 960-965
    • Zareba, W.1    Moss, A.J.2    Schwartz, P.J.3
  • 29
    • 0032971571 scopus 로고    scopus 로고
    • + channel gene and identification of C-terminal mutations in the long-QT syndrome
    • + channel gene and identification of C-terminal mutations in the long-QT syndrome. Circ Res. 84:1999;290-297.
    • (1999) Circ Res , vol.84 , pp. 290-297
    • Neyroud, N.1    Richard, P.2    Vignier, N.3
  • 30
    • 0031046285 scopus 로고    scopus 로고
    • Human, KvLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements
    • Lee M.P., Hu R., Jonhson L.A., Feinberg A.P. Human, KvLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements. Nature Genet. 15:1997;181-185.
    • (1997) Nature Genet , vol.15 , pp. 181-185
    • Lee, M.P.1    Hu, R.2    Jonhson, L.A.3    Feinberg, A.P.4
  • 31
    • 0031706255 scopus 로고    scopus 로고
    • Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome
    • Itoh T., Tanaka T., Nagai R., et al. Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome. Hum Genet. 103:1998;290-294.
    • (1998) Hum Genet , vol.103 , pp. 290-294
    • Itoh, T.1    Tanaka, T.2    Nagai, R.3
  • 33
    • 0030827972 scopus 로고    scopus 로고
    • Suppression of slow delayed rectifier current by a truncated isoform of KvLQT1 cloned from normal human heart
    • Jiang M., TsengCrank J., Tseng G.N. Suppression of slow delayed rectifier current by a truncated isoform of KvLQT1 cloned from normal human heart. J Biol Chem. 272:1997;24109-24112.
    • (1997) J Biol Chem , vol.272 , pp. 24109-24112
    • Jiang, M.1    Tsengcrank, J.2    Tseng, G.N.3
  • 35
    • 0033362172 scopus 로고    scopus 로고
    • Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias
    • Mohammad-Panah R., Demolombe S., Neyroud N., et al. Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias. Am J Hum Genet. 64:1999;1015-1023.
    • (1999) Am J Hum Genet , vol.64 , pp. 1015-1023
    • Mohammad-Panah, R.1    Demolombe, S.2    Neyroud, N.3
  • 36
    • 0033597857 scopus 로고    scopus 로고
    • Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits
    • Franqueza L., Lin M., Splawski I., Keating M.T., Sanguinetti M.C. Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits. J Biol Chem. 274:1999;21063-21070.
    • (1999) J Biol Chem , vol.274 , pp. 21063-21070
    • Franqueza, L.1    Lin, M.2    Splawski, I.3    Keating, M.T.4    Sanguinetti, M.C.5


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