메뉴 건너뛰기




Volumn 336, Issue 22, 1997, Pages 1562-1567

Molecular basis of the long-QT syndrome associated with deafness

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DISEASE ASSOCIATION; DNA SEQUENCE; FEMALE; GENE MUTATION; GENETIC LINKAGE; HEARING IMPAIRMENT; HUMAN; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0030918946     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199705293362204     Document Type: Article
Times cited : (271)

References (28)
  • 1
    • 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
  • 2
    • 0001221406 scopus 로고
    • Congenital deafness associated with eleetrocardiographic abnormalities, fainting attacks and sudden death: A recessive syndrome
    • Fraser GR, Froggatt P, James TN. Congenital deafness associated with eleetrocardiographic abnormalities, fainting attacks and sudden death: a recessive syndrome. Q J Med 1964;33:361-85.
    • (1964) Q J Med , vol.33 , pp. 361-385
    • Fraser, G.R.1    Froggatt, P.2    James, T.N.3
  • 3
    • 0013973537 scopus 로고
    • The surdo-cardiac syndrome: Three new cases of congenital deafness with syncopal attacks and Q-T prolongation in the electrocardiogram
    • Jervell A., Thingstad R, Endsjo TO. The surdo-cardiac syndrome: three new cases of congenital deafness with syncopal attacks and Q-T prolongation in the electrocardiogram. Am Heart J 1966;72:582-93.
    • (1966) Am Heart J , vol.72 , pp. 582-593
    • Jervell, A.1    Thingstad, R.2    Endsjo, T.O.3
  • 4
    • 0030248659 scopus 로고    scopus 로고
    • Exclusion of KCNE1 (IsK) as a candidate gene tor Jervell and Lange-Nielsen Syndrome
    • Tesson F, Donger C, Denjoy I, et al. Exclusion of KCNE1 (IsK) as a candidate gene tor Jervell and Lange-Nielsen Syndrome. J Mol Cell Cardiol 1996;28:2051-5.
    • (1996) J Mol Cell Cardiol , vol.28 , pp. 2051-2055
    • Tesson, F.1    Donger, C.2    Denjoy, I.3
  • 5
    • 0023816313 scopus 로고
    • Complete denervation of the heart in a child with congenital long QT and deafness
    • Till JA, Shinebourne EA, Pepper J, Camm AJ, Ward DE. Complete denervation of the heart in a child with congenital long QT and deafness. Am J Cardiol 1988;62:1319-21.
    • (1988) Am J Cardiol , vol.62 , pp. 1319-1321
    • Till, J.A.1    Shinebourne, E.A.2    Pepper, J.3    Camm, A.J.4    Ward, D.E.5
  • 6
    • 0027530929 scopus 로고
    • Cardiac arrest under anesthesia in a child with previously undiuagnosed Jervell and Lange-Nielsen syndrome
    • Holland JJ. Cardiac arrest under anesthesia in a child with previously undiuagnosed Jervell and Lange-Nielsen syndrome. Anaesthesia 1993;48: 149-51.
    • (1993) Anaesthesia , vol.48 , pp. 149-151
    • Holland, J.J.1
  • 7
    • 75549109609 scopus 로고
    • Artimie cardiache rare dell'eta' pediatrica. II. Accessi sincopali per fibrillazione ventricolare parossitica
    • Romano C, Gemme G, Pongiglione R. Artimie cardiache rare dell'eta' pediatrica. II. Accessi sincopali per fibrillazione ventricolare parossitica. Clin Pediatr 1963;45:656-83.
    • (1963) Clin Pediatr , vol.45 , pp. 656-683
    • Romano, C.1    Gemme, G.2    Pongiglione, R.3
  • 8
    • 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
  • 10
    • 0025935591 scopus 로고
    • The long QT syndrome: Prospective longitudinal study of 328 tamilies
    • Moss AJ, Schwartz PJ, Crampton RS, et al. The long QT syndrome: prospective longitudinal study of 328 tamilies. Circulation 1991;84:113644.
    • (1991) Circulation , vol.84 , pp. 113644
    • Moss, A.J.1    Schwartz, P.J.2    Crampton, R.S.3
  • 11
    • 0025847714 scopus 로고
    • Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-I gene
    • Keating M, Atkinson D, Dunn C, Timothy K, Vincent GM, Leppert M. Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-I gene. Science 1991;252:704-6.
    • (1991) Science , vol.252 , pp. 704-706
    • Keating, M.1    Atkinson, D.2    Dunn, C.3    Timothy, K.4    Vincent, G.M.5    Leppert, M.6
  • 13
    • 0028101967 scopus 로고
    • Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity
    • Jiang C, Atkinson D, Towbin JA, et al. Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity. Nat Genet 1994;8:141-7.
    • (1994) Nat Genet , vol.8 , pp. 141-147
    • Jiang, C.1    Atkinson, D.2    Towbin, J.A.3
  • 14
    • 0028819671 scopus 로고
    • Mapping of a gene for long QT syndrome to chromosome 4q25-27
    • Schott JJ, Charpentier F, Peltier S, et al. Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am J Hum Genet 1995;57:1114-22.
    • (1995) Am J Hum Genet , vol.57 , pp. 1114-1122
    • Schott, J.J.1    Charpentier, F.2    Peltier, S.3
  • 16
    • 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
  • 17
    • 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
  • 18
    • 0029116230 scopus 로고
    • Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia
    • Wang Q, Shen J, Li Z, et al. Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum Mol Genet 1995;4:1603-7.
    • (1995) Hum Mol Genet , vol.4 , pp. 1603-1607
    • Wang, Q.1    Shen, J.2    Li, Z.3
  • 19
    • 0029854263 scopus 로고    scopus 로고
    • Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel
    • Sanguinetti MC, Curran ME, Zou A, et al. Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. Nature 1996;384:80-3.
    • (1996) Nature , vol.384 , pp. 80-83
    • Sanguinetti, M.C.1    Curran, M.E.2    Zou, A.3
  • 20
    • 0029952101 scopus 로고    scopus 로고
    • K(V)LQT1 and IsK (minK) proteins associate to form the I(Ks) 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 I(Ks) cardiac potassium current. Nature 1996;384:78-80.
    • (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
  • 21
    • 0026759352 scopus 로고
    • The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome
    • Vincent GM, Timothy KW, Leppert M, Keating M. The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome. N Engl J Med 1992;327:846-52.
    • (1992) N Engl J Med , vol.327 , pp. 846-852
    • Vincent, G.M.1    Timothy, K.W.2    Leppert, M.3    Keating, M.4
  • 22
    • 0026681541 scopus 로고
    • Linkage analysis and long QT syndrome: Using genetics to study cardiovascular disease
    • Keating M. Linkage analysis and long QT syndrome: using genetics to study cardiovascular disease. Circulation 1992;85:1973-86.
    • (1992) Circulation , vol.85 , pp. 1973-1986
    • Keating, M.1
  • 23
    • 0021850103 scopus 로고
    • Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination
    • Lathrop GM, Lalouel J-M, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 1985;37:482-98.
    • (1985) Am J Hum Genet , vol.37 , pp. 482-498
    • Lathrop, G.M.1    Lalouel, J.-M.2    Julier, C.3    Ott, J.4
  • 24
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single strand conformation polymorphisms
    • Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single strand conformation polymorphisms. Proc Natl Acad Sci U S A 1989;86:2766-70.
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 25
    • 0030461289 scopus 로고    scopus 로고
    • Inner ear defects induced by null mutation of the isk gene
    • Vetter DE, Mann JR, Wangemann P, et al. Inner ear defects induced by null mutation of the isk gene. Neuron 1996;17:1251-64.
    • (1996) Neuron , vol.17 , pp. 1251-1264
    • Vetter, D.E.1    Mann, J.R.2    Wangemann, P.3
  • 26
    • 0013907716 scopus 로고
    • Pathology of the ear in the cardioauditory syndrome of Jervell and Lange-Nielsen (recessive deafness with electrocardiographic abnormalities)
    • Friedmann I, Fraser GR, Froggatt P. Pathology of the ear in the cardioauditory syndrome of Jervell and Lange-Nielsen (recessive deafness with electrocardiographic abnormalities). J Laryngol Otol 1964;80:451-70.
    • (1964) J Laryngol Otol , vol.80 , pp. 451-470
    • Friedmann, I.1    Fraser, G.R.2    Froggatt, P.3
  • 27
    • 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. Nat Genet 1997;15:186-9.
    • (1997) Nat Genet , vol.15 , pp. 186-189
    • Neyroud, N.1    Tesson, F.2    Denjoy, I.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.