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Volumn 8, Issue 1, 2011, Pages 56-57

Pleiotropic mutations in ion channels: What lies behind them?

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL KCNQ1;

EID: 78650666958     PISSN: 15475271     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hrthm.2010.10.005     Document Type: Editorial
Times cited : (6)

References (11)
  • 1
    • 78650665141 scopus 로고    scopus 로고
    • R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation
    • D.C. Bartos, S. Duchatelet, and D.E. Burgess R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation Heart Rhythm 8 2011 48 55
    • (2011) Heart Rhythm , vol.8 , pp. 48-55
    • Bartos, D.C.1    Duchatelet, S.2    Burgess, D.E.3
  • 3
    • 0036801529 scopus 로고    scopus 로고
    • Long QT syndrome, Brugada syndrome and conduction system disease are linked to a single sodium channel mutation
    • A.O. Grant, M.P. Carboni, and V. Neplioueva Long QT syndrome, Brugada syndrome and conduction system disease are linked to a single sodium channel mutation J Clin Invest 110 2002 1201 1209
    • (2002) J Clin Invest , vol.110 , pp. 1201-1209
    • Grant, A.O.1    Carboni, M.P.2    Neplioueva, V.3
  • 4
    • 45749132521 scopus 로고    scopus 로고
    • The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome
    • N. Makita, E. Behr, and W. Shimizu The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome J Clin Invest 118 2008 2219 2229
    • (2008) J Clin Invest , vol.118 , pp. 2219-2229
    • Makita, N.1    Behr, E.2    Shimizu, W.3
  • 5
    • 24644515300 scopus 로고    scopus 로고
    • A common HERG polymorphism, K897T, acts as a genetic modifier of the congenital long QT syndrome
    • L. Crotti, A.L. Lundquist, and R. Insolia A common HERG polymorphism, K897T, acts as a genetic modifier of the congenital long QT syndrome Circulation 112 2005 1251 1258
    • (2005) Circulation , vol.112 , pp. 1251-1258
    • Crotti, L.1    Lundquist, A.L.2    Insolia, R.3
  • 6
    • 24644456861 scopus 로고    scopus 로고
    • Genes and cardiac repolarization: The challenge ahead
    • M. Rubart, and D.P. Zipes Genes and cardiac repolarization The challenge ahead Circulation 112 2005 1242 1244
    • (2005) Circulation , vol.112 , pp. 1242-1244
    • Rubart, M.1    Zipes, D.P.2
  • 7
    • 33747146463 scopus 로고    scopus 로고
    • SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene
    • S. Poelzing, C. Forleo, and M. Samodell SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene Circulation 114 2006 368 376
    • (2006) Circulation , vol.114 , pp. 368-376
    • Poelzing, S.1    Forleo, C.2    Samodell, M.3
  • 8
    • 34248512934 scopus 로고    scopus 로고
    • Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene
    • A.J. Moss, S. Shimizu, and A.A.M. Wilde Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene Circulation 115 2007 2481 2489
    • (2007) Circulation , vol.115 , pp. 2481-2489
    • Moss, A.J.1    Shimizu, S.2    Wilde, A.A.M.3
  • 9
    • 27444442331 scopus 로고    scopus 로고
    • Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population
    • P.A. Brink, L. Crotti, and V. Corfield Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population Circulation 112 2005 2602 2610
    • (2005) Circulation , vol.112 , pp. 2602-2610
    • Brink, P.A.1    Crotti, L.2    Corfield, V.3
  • 10
    • 36348931620 scopus 로고    scopus 로고
    • The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: Toward a mutation-specific risk stratification
    • L. Crotti, C. Spazzolini, and P.J. Schwartz The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds Toward a mutation-specific risk stratification Circulation 116 2007 2366 2375
    • (2007) Circulation , vol.116 , pp. 2366-2375
    • Crotti, L.1    Spazzolini, C.2    Schwartz, P.J.3
  • 11
    • 77957729169 scopus 로고    scopus 로고
    • Patient-specific induced pluripotent stem-cell models for long-QT syndrome
    • A. Moretti, M. Bellin, and A. Welling Patient-specific induced pluripotent stem-cell models for long-QT syndrome N Engl J Med 363 2010 1397 1409
    • (2010) N Engl J Med , vol.363 , pp. 1397-1409
    • Moretti, A.1    Bellin, M.2    Welling, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.