메뉴 건너뛰기




Volumn 112, Issue 5, 2013, Pages 826-830

An in vivo cardiac assay to determine the functional consequences of putative long qt syndrome mutations: Short communication

Author keywords

arrhythmia; channelopathy; gene mutation; genetic testing; genetics polymorphism; ion channels; long QT syndrome; model organism; sudden death

Indexed keywords

POTASSIUM CHANNEL HERG;

EID: 84874762615     PISSN: 00097330     EISSN: 15244571     Source Type: Journal    
DOI: 10.1161/CIRCRESAHA.112.300664     Document Type: Article
Times cited : (30)

References (15)
  • 2
    • 17144415220 scopus 로고    scopus 로고
    • Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing
    • Tester DJ, Will ML, Haglund CM, Ackerman MJ. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005;2:507-517.
    • (2005) Heart Rhythm , vol.2 , pp. 507-517
    • Tester, D.J.1    Will, M.L.2    Haglund, C.M.3    Ackerman, M.J.4
  • 3
    • 79960867817 scopus 로고    scopus 로고
    • HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)
    • Ackerman MJ, Priori SG, Willems S, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm. 2011;8:1308-1339.
    • (2011) Heart Rhythm , vol.8 , pp. 1308-1339
    • Ackerman, M.J.1    Priori, S.G.2    Willems, S.3
  • 4
    • 84863631944 scopus 로고    scopus 로고
    • American heart association advocacy coordinating committee. Genetics and cardiovascular disease: A policy statement from the american heart association
    • Ashley EA, Hershberger RE, Caleshu C, et al.; American Heart Association Advocacy Coordinating Committee. Genetics and cardiovascular disease: a policy statement from the American Heart Association. Circulation. 2012;126:142-157.
    • (2012) Circulation , vol.126 , pp. 142-157
    • Ashley, E.A.1    Hershberger, R.E.2    Caleshu, C.3
  • 5
    • 20744451441 scopus 로고    scopus 로고
    • Cardiac performance in the zebrafish breakdance mutant
    • Kopp R, Schwerte T, Pelster B. Cardiac performance in the zebrafish breakdance mutant. J Exp Biol. 2005;208:2123-2134.
    • (2005) J Exp Biol , vol.208 , pp. 2123-2134
    • Kopp, R.1    Schwerte, T.2    Pelster, B.3
  • 6
    • 33745726634 scopus 로고    scopus 로고
    • In vivo recording of adult zebrafish electrocardiogram and assessment of drug-induced QT prolongation
    • Milan DJ, Jones IL, Ellinor PT, MacRae CA. In vivo recording of adult zebrafish electrocardiogram and assessment of drug-induced QT prolongation. Am J Physiol Heart Circ Physiol. 2006;291:H269-H273.
    • (2006) Am J Physiol Heart Circ Physiol , vol.291
    • Milan, D.J.1    Jones, I.L.2    Ellinor, P.T.3    MacRae, C.A.4
  • 8
    • 0346848889 scopus 로고    scopus 로고
    • Zebrafish embryos express an orthologue of HERG and are sensitive toward a range of QTprolonging drugs inducing severe arrhythmia
    • Langheinrich U, Vacun G, Wagner T. Zebrafish embryos express an orthologue of HERG and are sensitive toward a range of QTprolonging drugs inducing severe arrhythmia. Toxicol Appl Pharmacol. 2003;193:370-382.
    • (2003) Toxicol Appl Pharmacol , vol.193 , pp. 370-382
    • Langheinrich, U.1    Vacun, G.2    Wagner, T.3
  • 9
    • 0032516934 scopus 로고    scopus 로고
    • HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects
    • Zhou Z, Gong Q, Epstein ML, January CT. HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects. J Biol Chem. 1998;273:21061-21066.
    • (1998) J Biol Chem , vol.273 , pp. 21061-21066
    • Zhou, Z.1    Gong, Q.2    Epstein, M.L.3    January, C.T.4
  • 10
    • 41349110412 scopus 로고    scopus 로고
    • Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations
    • Zhang X, Chen S, Zhang L, Liu M, Redfearn S, Bryant RM, Oberti C, Vincent GM, Wang QK. Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations. BMC Med Genet. 2008;9:87.
    • (2008) BMC Med Genet , vol.9 , pp. 87
    • Zhang, X.1    Chen, S.2    Zhang, L.3    Liu, M.4    Redfearn, S.5    Bryant, R.M.6    Oberti, C.7    Vincent, G.M.8    Wang, Q.K.9
  • 11
    • 0033514263 scopus 로고    scopus 로고
    • Low penetrance in the long-QT syndrome clinical impact
    • Priori SG, Napolitano C, Schwartz PJ. Low penetrance in the long-QT syndrome: clinical impact. Circulation. 1999;99:529-533.
    • (1999) Circulation , vol.99 , pp. 529-533
    • Priori, S.G.1    Napolitano, C.2    Schwartz, P.J.3
  • 14
    • 80052989000 scopus 로고    scopus 로고
    • The Achilles' heel of cardiovascular genetic testing: Distinguishing pathogenic mutations from background genetic noise
    • Landstrom AP, Ackerman MJ. The Achilles' heel of cardiovascular genetic testing: distinguishing pathogenic mutations from background genetic noise. Clin Pharmacol Ther. 2011;90:496-499.
    • (2011) Clin Pharmacol Ther , vol.90 , pp. 496-499
    • Landstrom, A.P.1    Ackerman, M.J.2
  • 15
    • 84868615791 scopus 로고    scopus 로고
    • Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome
    • Giudicessi JR, Kapplinger JD, Tester DJ, Alders M, Salisbury BA, Wilde AA, Ackerman MJ. Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012;5:519-528.
    • (2012) Circ Cardiovasc Genet , vol.5 , pp. 519-528
    • Giudicessi, J.R.1    Kapplinger, J.D.2    Tester, D.J.3    Alders, M.4    Salisbury, B.A.5    Wilde, A.A.6    Ackerman, M.J.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.