메뉴 건너뛰기




Volumn 35, Issue 7, 2000, Pages 1919-1925

Homozygosity for a HERG potassium channel mutation causes a severe form of long QT syndrome: Identification of an apparent founder mutation in the finns

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL;

EID: 17144442716     PISSN: 07351097     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0735-1097(00)00636-7     Document Type: Article
Times cited : (58)

References (33)
  • 2
    • 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
  • 3
    • 50549220479 scopus 로고
    • Congenital cardiac arrhythmia
    • Romano C. Congenital cardiac arrhythmia. Lancet. 1:1965;658-659.
    • (1965) Lancet , vol.1 , pp. 658-659
    • Romano, C.1
  • 4
    • 0000387603 scopus 로고
    • New familial cardiac syndrome in children
    • Ward O.C. New familial cardiac syndrome in children. J Ir Med Assoc. 54:1964;103-106.
    • (1964) J Ir Med Assoc , vol.54 , pp. 103-106
    • Ward, O.C.1
  • 5
    • 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. 54:1957;59-68.
    • (1957) Am Heart J , vol.54 , pp. 59-68
    • Jervell, A.1    Lange-Nielsen, F.2
  • 6
    • 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
  • 7
    • 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
  • 9
    • 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
  • 10
    • 0031278313 scopus 로고    scopus 로고
    • KCNE1 mutations cause Jervell and Lange-Nielsen syndrome
    • Schulze-Bahr E., Wang Q., Wedekind H., et al. KCNE1 mutations cause Jervell and Lange-Nielsen syndrome. Nature Genet. 17:1997;267-268.
    • (1997) Nature Genet , vol.17 , pp. 267-268
    • Schulze-Bahr, E.1    Wang, Q.2    Wedekind, H.3
  • 14
    • 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. 80:1995;805-811.
    • (1995) Cell , vol.80 , pp. 805-811
    • Wang, Q.1    Shen, J.2    Splawski, I.3
  • 16
    • 0031930347 scopus 로고    scopus 로고
    • Molecular genetics of the long QT syndrome: Two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred
    • Saarinen K., Swan H., Toivonen L., Viitasalo M., Kontula K. Molecular genetics of the long QT syndrome two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred . Hum Mutat. 11:1998;158-165.
    • (1998) Hum Mutat , vol.11 , pp. 158-165
    • Saarinen, K.1    Swan, H.2    Toivonen, L.3    Viitasalo, M.4    Kontula, K.5
  • 17
    • 0343082884 scopus 로고    scopus 로고
    • A founder mutation of the potassium channel KVLQT1 accounts for one third of cases with long QT syndrome in Finns (abstr)
    • Saarinen K., Swan H., Toivonen L., et al. A founder mutation of the potassium channel KVLQT1 accounts for one third of cases with long QT syndrome in Finns (abstr). Circulation. 98:(Suppl I):1998;I456.
    • (1998) Circulation , vol.98 , Issue.SUPPL. I , pp. 456
    • Saarinen, K.1    Swan, H.2    Toivonen, L.3
  • 18
    • 0032831603 scopus 로고    scopus 로고
    • Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KVLQT1 and HERG potassium channel defects
    • Swan H., Viitasalo M., Piippo K., Laitinen P., Kontula K., Toivonen L. Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KVLQT1 and HERG potassium channel defects. J Am Coll Cardiol. 34:1999;823-829.
    • (1999) J Am Coll Cardiol , vol.34 , pp. 823-829
    • Swan, H.1    Viitasalo, M.2    Piippo, K.3    Laitinen, P.4    Kontula, K.5    Toivonen, L.6
  • 19
    • 0031948260 scopus 로고    scopus 로고
    • Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome
    • Itoh T., Tanaka T., Nagai R., et al. Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. Hum Genet. 102:1998;435-439.
    • (1998) Hum Genet , vol.102 , pp. 435-439
    • Itoh, T.1    Tanaka, T.2    Nagai, R.3
  • 20
    • 0028292927 scopus 로고
    • A family of potassium channel genes related to eag in Drosophila and mammals
    • Warmke J.W., Ganetzky B. A family of potassium channel genes related to eag in Drosophila and mammals. Proc Natl Acad Sci USA. 91:1994;3438-3442.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 3438-3442
    • Warmke, J.W.1    Ganetzky, B.2
  • 21
    • 0031733880 scopus 로고    scopus 로고
    • Time course and voltage dependence of expressed HERG current compared with native "rapid" delayed rectifier K current during the cardiac ventricular action potential
    • Hancox C., Levi J.A., Witchel H.J. Time course and voltage dependence of expressed HERG current compared with native "rapid" delayed rectifier K current during the cardiac ventricular action potential. Pflugers Arch. 436:1998;843-853.
    • (1998) Pflugers Arch , vol.436 , pp. 843-853
    • Hancox, C.1    Levi, J.A.2    Witchel, H.J.3
  • 23
    • 0031742141 scopus 로고    scopus 로고
    • Regulation of deactivation by an amino terminal domain in human ether-à-go-go-related gene potassium channels
    • Wang J., Trudeau M.C., Zappia A.M., Robertson G.A. Regulation of deactivation by an amino terminal domain in human ether-à-go-go-related gene potassium channels. J Gen Physiol. 112:1998;637-647.
    • (1998) J Gen Physiol , vol.112 , pp. 637-647
    • Wang, J.1    Trudeau, M.C.2    Zappia, A.M.3    Robertson, G.A.4
  • 25
    • 0032499656 scopus 로고    scopus 로고
    • Age- And sex-related differences in clinical manifestations in patients with congenital long-QT syndrome: Findings from the International LQTS Registry
    • Locati E.H., Zareba W., Moss A.J., et al. Age- and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome findings from the International LQTS Registry . Circulation. 97:1998;2237-2244.
    • (1998) Circulation , vol.97 , pp. 2237-2244
    • Locati, E.H.1    Zareba, W.2    Moss, A.J.3
  • 26
    • 0032189139 scopus 로고    scopus 로고
    • Influence of genotype on the clinical course of the long-QT syndrome
    • Zareba W., Moss A.J., Schwartz P.J., et al. Influence of genotype on the clinical course of the long-QT syndrome. N Engl J Med. 339:1998;960-965.
    • (1998) N Engl J Med , vol.339 , pp. 960-965
    • Zareba, W.1    Moss, A.J.2    Schwartz, P.J.3
  • 29
    • 0033113189 scopus 로고    scopus 로고
    • Effects of 17 beta-estradiol on tachycardia-induced changes of atrial refractoriness and cisapride-induced ventricular arrhythmia
    • Chen Y.J., Lee S.H., Hsieh, et al. Effects of 17 beta-estradiol on tachycardia-induced changes of atrial refractoriness and cisapride-induced ventricular arrhythmia. J Cardiovasc Electrophysiol. 10:1999;587-598.
    • (1999) J Cardiovasc Electrophysiol , vol.10 , pp. 587-598
    • Chen, Y.J.1    Lee, S.H.2    Hsieh3
  • 30
    • 0015858194 scopus 로고
    • Hereditary diseases in Finland: Rare flora in rare soil
    • Norio R., Nevanlinna H.R., Perheentupa J. Hereditary diseases in Finland rare flora in rare soil . Ann Clin Res. 5:1973;109-141.
    • (1973) Ann Clin Res , vol.5 , pp. 109-141
    • Norio, R.1    Nevanlinna, H.R.2    Perheentupa, J.3
  • 31
    • 0029859306 scopus 로고    scopus 로고
    • Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population
    • Sajantila A., Salem A.-H., Savolainen P., Bauer K., Gierig C., Pääbo S. Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population. Proc Natl Acad Sci USA. 93:1996;12035-12039.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 12035-12039
    • Sajantila, A.1    Salem, A.-H.2    Savolainen, P.3    Bauer, K.4    Gierig, C.5    Pääbo, S.6
  • 32
    • 0031971898 scopus 로고    scopus 로고
    • Dual origins of Finns revealed by Y chromosome haplotype variation
    • Kittles R.A., Perola M., Peltonen L., et al. Dual origins of Finns revealed by Y chromosome haplotype variation. Am J Hum Genet. 62:1998;1171-1179.
    • (1998) Am J Hum Genet , vol.62 , pp. 1171-1179
    • Kittles, R.A.1    Perola, M.2    Peltonen, L.3
  • 33
    • 0030016059 scopus 로고    scopus 로고
    • Evidence of a long QT founder gene with varying phenotype expression in South African families
    • de Jager T., Corbett C.H., Badenhorst J.C.W., Brink P.A., Corfield V.A. Evidence of a long QT founder gene with varying phenotype expression in South African families. J Med Genet. 33:1996;567-573.
    • (1996) J Med Genet , vol.33 , pp. 567-573
    • De Jager, T.1    Corbett, C.H.2    Badenhorst, J.C.W.3    Brink, P.A.4    Corfield, V.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.