메뉴 건너뛰기




Volumn 8, Issue 4, 2011, Pages 541-547

Origin of the Swedish long QT syndrome Y111C/KCNQ1 founder mutation

Author keywords

Dominant negative mutation; Founder mutation; Gene mutation; Ion channel; Long QT syndrome

Indexed keywords

CYSTEINE; DNA; TYROSINE; VOLTAGE GATED POTASSIUM CHANNEL;

EID: 79953247318     PISSN: 15475271     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hrthm.2010.11.043     Document Type: Article
Times cited : (27)

References (23)
  • 1
    • 33644821919 scopus 로고    scopus 로고
    • The congenital long QT syndromes from genotype to phenotype: Clinical implications
    • P.J. Schwartz The congenital long QT syndromes from genotype to phenotype: clinical implications J Intern Med 259 2006 39 47
    • (2006) J Intern Med , vol.259 , pp. 39-47
    • Schwartz, P.J.1
  • 2
    • 70449435450 scopus 로고    scopus 로고
    • The genetic basis of long QT and short QT syndromes: A mutation update
    • P.L. Hedley, P. Jorgensen, and S. Schlamowitz The genetic basis of long QT and short QT syndromes: a mutation update Hum Mutat 30 2009 1486 1511
    • (2009) Hum Mutat , vol.30 , pp. 1486-1511
    • Hedley, P.L.1    Jorgensen, P.2    Schlamowitz, S.3
  • 3
    • 77952240724 scopus 로고    scopus 로고
    • Recent progress in congenital long QT syndrome
    • J.T. Lu, and R.S. Kass Recent progress in congenital long QT syndrome Curr Opin Cardiol 2010 Mar 10[Epub ahead of print]
    • (2010) Curr Opin Cardiol
    • Lu, J.T.1    Kass, R.S.2
  • 4
    • 75549088645 scopus 로고    scopus 로고
    • Of founder populations, long QT syndrome, and destiny
    • P.A. Brink, and P.J. Schwartz Of founder populations, long QT syndrome, and destiny Heart Rhythm 6 11 Suppl 2009 S25 S33
    • (2009) Heart Rhythm , vol.6 , Issue.11 SUPPL.
    • Brink, P.A.1    Schwartz, P.J.2
  • 5
    • 36348942404 scopus 로고    scopus 로고
    • The genetic population structure of northern Sweden and its implications for mapping genetic diseases
    • DOI 10.1111/j.2007.0018-0661.02007.x
    • E. Einarsdottir, I. Egerbladh, L. Beckman, D. Holmberg, and S.A. Escher The genetic population structure of northern Sweden and its implications for mapping genetic diseases Hereditas 144 2007 171 180 (Pubitemid 350142210)
    • (2007) Hereditas , vol.144 , Issue.5 , pp. 171-180
    • Einarsdottir, E.1    Egerbladh, I.2    Beckman, L.3    Holmberg, D.4    Escher, S.A.5
  • 6
    • 77449084993 scopus 로고    scopus 로고
    • Low incidence of sudden cardiac death in a Swedish Y111C type 1 long-QT syndrome population
    • A. Winbo, U.B. Diamant, E.L. Stattin, S.M. Jensen, and A. Rydberg Low incidence of sudden cardiac death in a Swedish Y111C type 1 long-QT syndrome population Circ Cardiovasc Genet 2 2009 558 564
    • (2009) Circ Cardiovasc Genet , vol.2 , pp. 558-564
    • Winbo, A.1    Diamant, U.B.2    Stattin, E.L.3    Jensen, S.M.4    Rydberg, A.5
  • 7
    • 0034609531 scopus 로고    scopus 로고
    • Spectrum of mutations in long-QT syndrome genes: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
    • I. Splawski, J. Shen, and K.W. Timothy Spectrum of mutations in long-QT syndrome genes KVLQT1, HERG, SCN5A, KCNE1, and KCNE2 Circulation 102 2000 1178 1185
    • (2000) Circulation , vol.102 , pp. 1178-1185
    • Splawski, I.1    Shen, J.2    Timothy, K.W.3
  • 9
    • 33750924829 scopus 로고    scopus 로고
    • The N-terminal juxtamembranous domain of KCNQ1 is critical for channel surface expression: Implications in the Romano-Ward LQT1 syndrome
    • DOI 10.1161/01.RES.0000250262.12219.95, PII 0000301220061110000009
    • S. Dahimene, S. Alcolea, and P. Naud The N-terminal juxtamembranous domain of KCNQ1 is critical for channel surface expression: implications in the Romano-Ward LQT1 syndrome Circ Res 99 2006 1076 1083 (Pubitemid 44729931)
    • (2006) Circulation Research , vol.99 , Issue.10 , pp. 1076-1083
    • Dahimene, S.1    Alcolea, S.2    Naud, P.3    Jourdon, P.4    Escande, D.5    Brasseur, R.6    Thomas, A.7    Baro, I.8    Merot, J.9
  • 11
    • 77952838895 scopus 로고    scopus 로고
    • Cascades or waterfalls, the cataracts of genetic screening are being opened on clinical cardiology
    • P.J. Schwartz Cascades or waterfalls, the cataracts of genetic screening are being opened on clinical cardiology J Am Coll Cardiol 55 2010 2577 2579
    • (2010) J Am Coll Cardiol , vol.55 , pp. 2577-2579
    • Schwartz, P.J.1
  • 13
  • 14
    • 24944474042 scopus 로고    scopus 로고
    • The influence of past endogamy and consanguinity on genetic disorders in northern Sweden
    • DOI 10.1046/j.1529-8817.2005.00179.x
    • A.H. Bittles, and I. Egerbladh The influence of past endogamy and consanguinity on genetic disorders in northern Sweden Ann Hum Genet 69 Pt 5 2005 549 558 (Pubitemid 41309432)
    • (2005) Annals of Human Genetics , vol.69 , Issue.5 , pp. 549-558
    • Bittles, A.H.1    Egerbladh, I.2
  • 15
    • 68949209933 scopus 로고    scopus 로고
    • Spectrum and prevalence of mutations from the first 2500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test
    • J.D. Kapplinger, D.J. Tester, and B.A. Salisbury Spectrum and prevalence of mutations from the first 2500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test Heart Rhythm 6 2009 1297 1303
    • (2009) Heart Rhythm , vol.6 , pp. 1297-1303
    • Kapplinger, J.D.1    Tester, D.J.2    Salisbury, B.A.3
  • 16
    • 2442657712 scopus 로고    scopus 로고
    • Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland
    • DOI 10.1080/17431380410032689
    • H. Fodstad, H. Swan, and P. Laitinen Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland Ann Med 36 2004 53 63 (Pubitemid 38669925)
    • (2004) Annals of Medicine , vol.36 , Issue.SUPPL. 1 , pp. 53-63
    • Fodstad, H.1    Swan, H.2    Laitinen, P.3    Piippo, K.4    Paavonen, K.5    Viitasalo, M.6    Toivonen, L.7    Kontula, K.8
  • 17
    • 50449111177 scopus 로고    scopus 로고
    • Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers
    • K.E. Berge, K.H. Haugaa, and A. Fruh Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers Scand J Clin Lab Invest 68 2008 362 368
    • (2008) Scand J Clin Lab Invest , vol.68 , pp. 362-368
    • Berge, K.E.1    Haugaa, K.H.2    Fruh, A.3
  • 20
    • 67650351374 scopus 로고    scopus 로고
    • High prevalence of four long QT syndrome founder mutations in the Finnish population
    • A. Marjamaa, V. Salomaa, and C. Newton-Cheh High prevalence of four long QT syndrome founder mutations in the Finnish population Ann Med 41 2009 234 240
    • (2009) Ann Med , vol.41 , pp. 234-240
    • Marjamaa, A.1    Salomaa, V.2    Newton-Cheh, C.3
  • 23
    • 70350540922 scopus 로고    scopus 로고
    • NOS1AP is a genetic modifier of the long-QT syndrome
    • L. Crotti, M.C. Monti, and R. Insolia NOS1AP is a genetic modifier of the long-QT syndrome Circulation 120 2009 1657 1663
    • (2009) Circulation , vol.120 , pp. 1657-1663
    • Crotti, L.1    Monti, M.C.2    Insolia, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.