메뉴 건너뛰기




Volumn 57, Issue 4, 2004, Pages 331-346

Pediatric cardiology in the genomic era;Cardiología pediátrica en la era de la genómica

Author keywords

Genomics; Molecular biology; Pediatric cardiology

Indexed keywords

ALPHA GLUCOSIDASE; ANTIARRHYTHMIC AGENT; APOLIPOPROTEIN E; BETA 2 ADRENERGIC RECEPTOR BLOCKING AGENT; BETA ADRENERGIC RECEPTOR; CARNITINE PALMITOYLTRANSFERASE; DIAZOXIDE; DIGOXIN; DIPEPTIDYL CARBOXYPEPTIDASE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; ELASTIN; ENDOTHELIN RECEPTOR; FIBRILLIN; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; INTERLEUKIN 6; MITOGEN ACTIVATED PROTEIN KINASE; NICORANDIL; ORGANIC CATION TRANSPORTER; PLASMINOGEN ACTIVATOR INHIBITOR 1; PROTEIN C; PROTEIN TYROSINE PHOSPHATASE; RYANODINE RECEPTOR; STROMELYSIN; SYNAPTOPHYSIN; TRANSCRIPTION FACTOR GATA 4; TRANSCRIPTION FACTOR NFAT; TROPOMYOSIN; TROPONIN; UNINDEXED DRUG; VASCULOTROPIN;

EID: 18344402855     PISSN: 03008932     EISSN: None     Source Type: Journal    
DOI: 10.1157/13059726     Document Type: Review
Times cited : (9)

References (92)
  • 1
    • 0032491158 scopus 로고    scopus 로고
    • Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases: Hypertrophic cardiomyopathy, long-QT syndrome, and Marfan syndrome
    • Maron BJ, Moller JH, Seidman CE, Vincent GM, Dietz HC, Moss AJ, et al. Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases: hypertrophic cardiomyopathy, long-QT syndrome, and Marfan syndrome. Circulation 1998;98:1460-71.
    • (1998) Circulation , vol.98 , pp. 1460-1471
    • Maron, B.J.1    Moller, J.H.2    Seidman, C.E.3    Vincent, G.M.4    Dietz, H.C.5    Moss, A.J.6
  • 2
    • 0033835575 scopus 로고    scopus 로고
    • Advances in cardiovascular genetics and embryology: Role of transcription factors in congenital heart disease
    • Benson DW. Advances in cardiovascular genetics and embryology: role of transcription factors in congenital heart disease. Curr Opin Pediatr 2000;12:497-500.
    • (2000) Curr. Opin. Pediatr. , vol.12 , pp. 497-500
    • Benson, D.W.1
  • 3
    • 0033000465 scopus 로고    scopus 로고
    • HAND proteins: Molecular mediators of cardiac development and congenital heart disease
    • Srivastava D. HAND proteins: molecular mediators of cardiac development and congenital heart disease. Trends Cardiovasc Med 1999;9:11-8.
    • (1999) Trends. Cardiovasc. Med. , vol.9 , pp. 11-18
    • Srivastava, D.1
  • 5
    • 0043267988 scopus 로고    scopus 로고
    • GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
    • Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butter CA, et al. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 2003; 424:443-7.
    • (2003) Nature , vol.424 , pp. 443-447
    • Garg, V.1    Kathiriya, I.S.2    Barnes, R.3    Schluterman, M.K.4    King, I.N.5    Butter, C.A.6
  • 9
    • 17944378083 scopus 로고    scopus 로고
    • A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease
    • Bruneau BG, Nemer G, Schmitt JP, Charron F, Robitaille L, Caron S, et al. A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell 2001;106:709-21.
    • (2001) Cell , vol.106 , pp. 709-721
    • Bruneau, B.G.1    Nemer, G.2    Schmitt, J.P.3    Charron, F.4    Robitaille, L.5    Caron, S.6
  • 11
    • 18344385476 scopus 로고    scopus 로고
    • Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
    • Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001;29:465-8.
    • (2001) Nat. Genet. , vol.29 , pp. 465-468
    • Tartaglia, M.1    Mehler, E.L.2    Goldberg, R.3    Zampino, G.4    Brunner, H.G.5    Kremer, H.6
  • 13
    • 0035380105 scopus 로고    scopus 로고
    • Friedreich's ataxia and frataxin: Molecular genetics, evolution and pathogenesis
    • Palau F. Friedreich's ataxia and frataxin: molecular genetics, evolution and pathogenesis. Int J Mol Med 2001;7:581-9.
    • (2001) Int. J. Mol. Med. , vol.7 , pp. 581-589
    • Palau, F.1
  • 14
    • 0033047455 scopus 로고    scopus 로고
    • Myotonic dystrophy: Tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression
    • Korade-Mirnics Z, Tarleton J, Servidei S, Casey RR, Gennarelli M, Pegoraro E, et al. Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression. Hum Mol Genet 1999;8:1017-23.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1017-1023
    • Korade-Mirnics, Z.1    Tarleton, J.2    Servidei, S.3    Casey, R.R.4    Gennarelli, M.5    Pegoraro, E.6
  • 16
    • 0034538594 scopus 로고    scopus 로고
    • Congenital heart disease and genetic syndromes: Specific correlation between cardiac phenotype and genotype
    • Marino B, Digilio MC. Congenital heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype. Cardiovasc Pathol 2000;9:303-15.
    • (2000) Cardiovasc. Pathol. , vol.9 , pp. 303-315
    • Marino, B.1    Digilio, M.C.2
  • 17
    • 0031215021 scopus 로고    scopus 로고
    • Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene
    • Chieffo C, Garvey N, Gong W, Roe B, Zhang G, Silver L, et al. Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene. Genomics 1997;43:267-77.
    • (1997) Genomics , vol.43 , pp. 267-277
    • Chieffo, C.1    Garvey, N.2    Gong, W.3    Roe, B.4    Zhang, G.5    Silver, L.6
  • 18
    • 0034713818 scopus 로고    scopus 로고
    • Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects
    • Giglio S, Graw SL, Gimelli G, Pirola B, Varone P, Voullaire L, et al. Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. Circulation 2000;102:432-7.
    • (2000) Circulation , vol.102 , pp. 432-437
    • Giglio, S.1    Graw, S.L.2    Gimelli, G.3    Pirola, B.4    Varone, P.5    Voullaire, L.6
  • 19
    • 0029825614 scopus 로고    scopus 로고
    • Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome
    • Wang DW, Yazawa K, George AL Jr, Bennett PB. Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome. Proc Natl Acad Sci USA 1996;93:13200-5.
    • (1996) Proc. Natl. Acad. Sci. USA , vol.93 , pp. 13200-13205
    • Wang, D.W.1    Yazawa, K.2    George Jr., A.L.3    Bennett, P.B.4
  • 20
    • 0035056820 scopus 로고    scopus 로고
    • Genotype and severity of long QT syndrome
    • Towbin JA, Wang Z, Li H. Genotype and severity of long QT syndrome. Drug Metab Dispos 2001;29:574-9.
    • (2001) Drug Metab. Dispos. , vol.29 , pp. 574-579
    • Towbin, J.A.1    Wang, Z.2    Li, H.3
  • 21
    • 0032546384 scopus 로고    scopus 로고
    • Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
    • Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998;392:293-6.
    • (1998) Nature , vol.392 , pp. 293-296
    • Chen, Q.1    Kirsch, G.E.2    Zhang, D.3    Brugada, R.4    Brugada, J.5    Brugada, P.6
  • 23
    • 0034609531 scopus 로고    scopus 로고
    • Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
    • Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, et al. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 2000;102:1178-85.
    • (2000) Circulation , vol.102 , pp. 1178-1185
    • Splawski, I.1    Shen, J.2    Timothy, K.W.3    Lehmann, M.H.4    Priori, S.5    Robinson, J.L.6
  • 24
    • 0035969990 scopus 로고    scopus 로고
    • Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia
    • Laitinen PJ, Brown KM, Piippo K, Swan H, Devaney JM, Brahmbhatt B, et al. Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 2001;103:485-90.
    • (2001) Circulation , vol.103 , pp. 485-490
    • Laitinen, P.J.1    Brown, K.M.2    Piippo, K.3    Swan, H.4    Devaney, J.M.5    Brahmbhatt, B.6
  • 25
    • 0032977685 scopus 로고    scopus 로고
    • Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
    • Bonne G, Di Barletta MR, Varnous S, Becane HM, Hammouda EH, Merlini L, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999;21:285-8.
    • (1999) Nat. Genet. , vol.21 , pp. 285-288
    • Bonne, G.1    Di Barletta, M.R.2    Varnous, S.3    Becane, H.M.4    Hammouda, E.H.5    Merlini, L.6
  • 26
    • 0032729717 scopus 로고    scopus 로고
    • Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children
    • Bonnet D, Martin D, De Lonlay P, Villain E, Jouvet P, Rabier D, et al. Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation 1999;100:2248-53.
    • (1999) Circulation , vol.100 , pp. 2248-2253
    • Bonnet, D.1    Martin, D.2    De Lonlay, P.3    Villain, E.4    Jouvet, P.5    Rabier, D.6
  • 27
    • 0025886783 scopus 로고
    • Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
    • Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991;352: 337-9.
    • (1991) Nature , vol.352 , pp. 337-339
    • Dietz, H.C.1    Cutting, G.R.2    Pyeritz, R.E.3    Maslen, C.L.4    Sakai, L.Y.5    Corson, G.M.6
  • 29
    • 0028886136 scopus 로고
    • Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy
    • Bonne G, Carrier L, Bercovici J, Cruaud C, Richard P, Hainque B, et al. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet 1995;11:438-40.
    • (1995) Nat. Genet. , vol.11 , pp. 438-440
    • Bonne, G.1    Carrier, L.2    Bercovici, J.3    Cruaud, C.4    Richard, P.5    Hainque, B.6
  • 30
    • 0028178083 scopus 로고
    • Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere
    • Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg HP, et al. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 1994;77:701-12.
    • (1994) Cell , vol.77 , pp. 701-712
    • Thierfelder, L.1    Watkins, H.2    MacRae, C.3    Lamas, R.4    McKenna, W.5    Vosberg, H.P.6
  • 31
    • 0030765610 scopus 로고    scopus 로고
    • Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy
    • Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet 1997;16:379-82.
    • (1997) Nat. Genet. , vol.16 , pp. 379-382
    • Kimura, A.1    Harada, H.2    Park, J.E.3    Nishi, H.4    Satoh, M.5    Takahashi, M.6
  • 33
    • 0027954269 scopus 로고
    • Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy
    • Anan R, Greve G, Thierfelder L, Watkins H, McKenna WJ, Solomon S, et al. Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J Clin Invest 1994;93:280-5.
    • (1994) J. Clin. Invest. , vol.93 , pp. 280-285
    • Anan, R.1    Greve, G.2    Thierfelder, L.3    Watkins, H.4    McKenna, W.J.5    Solomon, S.6
  • 35
    • 0033610050 scopus 로고    scopus 로고
    • Structural analysis of the titin gene in hypertrophic cardiomyopathy: Identification of a novel disease gene
    • Satoh M, Takahashi M, Sakamoto T, Hiroe M, Marumo F, Kimura A. Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. Biochem Biophys Res Commun 1999;262:411-7.
    • (1999) Biochem. Biophys. Res. Commun. , vol.262 , pp. 411-417
    • Satoh, M.1    Takahashi, M.2    Sakamoto, T.3    Hiroe, M.4    Marumo, F.5    Kimura, A.6
  • 36
    • 0037221950 scopus 로고    scopus 로고
    • Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy
    • Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, et al. Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. Am J Hum Genet 2003;72:101-14.
    • (2003) Am. J. Hum. Genet. , vol.72 , pp. 101-114
    • Antonicka, H.1    Mattman, A.2    Carlson, C.G.3    Glerum, D.M.4    Hoffbuhr, K.C.5    Leary, S.C.6
  • 39
    • 0030920253 scopus 로고    scopus 로고
    • Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy
    • Beggs AH. Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy. Circulation 1997;95:2344-7.
    • (1997) Circulation , vol.95 , pp. 2344-2347
    • Beggs, A.H.1
  • 41
    • 0032076955 scopus 로고    scopus 로고
    • Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
    • Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 1998;280:750-2.
    • (1998) Science , vol.280 , pp. 750-752
    • Olson, T.M.1    Michels, V.V.2    Thibodeau, S.N.3    Tai, Y.S.4    Keating, M.T.5
  • 43
    • 0033818186 scopus 로고    scopus 로고
    • Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy
    • Tsubata S, Bowles KR, Vatta M, Zintz C, Titus J, Muhonen L, et al. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest 2000;106: 655-62.
    • (2000) J. Clin. Invest. , vol.106 , pp. 655-662
    • Tsubata, S.1    Bowles, K.R.2    Vatta, M.3    Zintz, C.4    Titus, J.5    Muhonen, L.6
  • 44
    • 0027193330 scopus 로고
    • X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus
    • Towbin JA, Hejtmancik JF, Brink P, Gelb B, Zhu XM, Chamberlain JS, et al. X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation 1993;87:1854-65.
    • (1993) Circulation , vol.87 , pp. 1854-1865
    • Towbin, J.A.1    Hejtmancik, J.F.2    Brink, P.3    Gelb, B.4    Zhu, X.M.5    Chamberlain, J.S.6
  • 45
    • 0031204998 scopus 로고    scopus 로고
    • Barth syndrome may be due to an acyltransferase deficiency
    • Neuwald AF. Barth syndrome may be due to an acyltransferase deficiency. Curr Biol 1997;7:465-6.
    • (1997) Curr. Biol. , vol.7 , pp. 465-466
    • Neuwald, A.F.1
  • 46
    • 0037262095 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): Confirmation of locus assignment and mutation screening of four candidate genes
    • Rampazzo A, Beffagna G, Nava A, Occhi G, Bauce B, Noiato M, et al. Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes. Eur J Hum Genet 2003;11:69-76-47.
    • (2003) Eur. J. Hum. Genet. , vol.11 , pp. 69-76
    • Rampazzo, A.1    Beffagna, G.2    Nava, A.3    Occhi, G.4    Bauce, B.5    Noiato, M.6
  • 48
    • 0026624980 scopus 로고
    • Diseases of mitochondrial DNA
    • Wallace DC. Diseases of mitochondrial DNA. Ann Rev Biochem 1992;61:1175-212.
    • (1992) Ann. Rev. Biochem. , vol.61 , pp. 1175-1212
    • Wallace, D.C.1
  • 49
    • 0032699506 scopus 로고    scopus 로고
    • Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
    • Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, et al. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet 1999;23:333-7.
    • (1999) Nat. Genet. , vol.23 , pp. 333-337
    • Papadopoulou, L.C.1    Sue, C.M.2    Davidson, M.M.3    Tanji, K.4    Nishino, I.5    Sadlock, J.E.6
  • 50
    • 0025260002 scopus 로고
    • Mitochondrial mutation in fatal infantile cardiomyopathy
    • Tanaka M, Ino H, Ohno K. Mitochondrial mutation in fatal infantile cardiomyopathy. Lancet 1990;336:1452.
    • (1990) Lancet , vol.336 , pp. 1452
    • Tanaka, M.1    Ino, H.2    Ohno, K.3
  • 53
    • 0034519248 scopus 로고    scopus 로고
    • The complete sequence of mtDNA genes in idiopathic dilated cardiomyopathy shows novel missense and tRNA mutations
    • Marin-García J, Goldenthal MJ, Ananthakrishnan R, Pierpont ME. The complete sequence of mtDNA genes in idiopathic dilated cardiomyopathy shows novel missense and tRNA mutations. J Card Fail 2000;6:321-9.
    • (2000) J. Card. Fail. , vol.6 , pp. 321-329
    • Marin-García, J.1    Goldenthal, M.J.2    Ananthakrishnan, R.3    Pierpont, M.E.4
  • 55
    • 0032961434 scopus 로고    scopus 로고
    • Cardioselective and cumulative oxidation of mitochondrial DNA following subchronic doxorubicin administration
    • Serrano J, Palmeira CM, Kuehl DW, Wallace KB. Cardioselective and cumulative oxidation of mitochondrial DNA following subchronic doxorubicin administration. Biochim Biophys Acta 1999;1411:201-5.
    • (1999) Biochim. Biophys. Acta , vol.1411 , pp. 201-205
    • Serrano, J.1    Palmeira, C.M.2    Kuehl, D.W.3    Wallace, K.B.4
  • 56
    • 0034843897 scopus 로고    scopus 로고
    • Alcohol and the heart
    • Schoppet M, Maisch B. Alcohol and the heart. Herz 2001;26:345-52.
    • (2001) Herz. , vol.26 , pp. 345-352
    • Schoppet, M.1    Maisch, B.2
  • 57
    • 0026671245 scopus 로고
    • Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease
    • Corral-Debrinski M, Shoffner JM, Lott MT, Wallace DC. Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease. Mutat Res 1992;275:169-80.
    • (1992) Mutat. Res. , vol.275 , pp. 169-180
    • Corral-Debrinski, M.1    Shoffner, J.M.2    Lott, M.T.3    Wallace, D.C.4
  • 59
    • 0029072026 scopus 로고
    • Whole mitochondrial genome amplification reveals basal level multiple deletions in mtDNA of patients with dilated cardiomyopathy
    • Li YY, Hengstenberg C, Maisch B. Whole mitochondrial genome amplification reveals basal level multiple deletions in mtDNA of patients with dilated cardiomyopathy. Biochem Biophys Res Commun 1995;210:211-8.
    • (1995) Biochem. Biophys. Res. Commun. , vol.210 , pp. 211-218
    • Li, Y.Y.1    Hengstenberg, C.2    Maisch, B.3
  • 60
    • 0023883150 scopus 로고
    • Deletions of mtDNA in patients with mitochondrial myopathies
    • Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of mtDNA in patients with mitochondrial myopathies. Nature 1988;331:717-9.
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, I.J.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 61
    • 0031882208 scopus 로고    scopus 로고
    • Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses
    • Carrozzo R, Hirano M, Fromenty B, Casali C, Santorelli FM, Bonilla E, et al. Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses. Neurology 1998;50:99-106.
    • (1998) Neurology , vol.50 , pp. 99-106
    • Carrozzo, R.1    Hirano, M.2    Fromenty, B.3    Casali, C.4    Santorelli, F.M.5    Bonilla, E.6
  • 64
    • 0028990381 scopus 로고
    • Mitochondrial toxicity of antiviral drugs
    • Lewis W, Dalakas MC. Mitochondrial toxicity of antiviral drugs. Nature Med 1995;1:417-22.
    • (1995) Nature. Med. , vol.1 , pp. 417-422
    • Lewis, W.1    Dalakas, M.C.2
  • 65
    • 0034648743 scopus 로고    scopus 로고
    • Absence of cardiac toxicity of zidovudine in infants
    • Pediatric Pulmonary and Cardiac Complications of Vertically Transmitted HIV Infection Study Group
    • Lipshultz SE, Easley KA, Orav EJ, Kaplan S, State TJ, Bricker JT, et al. Absence of cardiac toxicity of zidovudine in infants. Pediatric Pulmonary and Cardiac Complications of Vertically Transmitted HIV Infection Study Group. N Engl J Med 2000;343:759-66.
    • (2000) N. Engl. J. Med. , vol.343 , pp. 759-766
    • Lipshultz, S.E.1    Easley, K.A.2    Orav, E.J.3    Kaplan, S.4    State, T.J.5    Bricker, J.T.6
  • 66
    • 0036100436 scopus 로고    scopus 로고
    • Modifier genes for hypertrophic cardiomyopathy
    • Marian AJ. Modifier genes for hypertrophic cardiomyopathy. Curr Opin Cardiol 2002;17:242-52.
    • (2002) Curr. Opin. Cardiol. , vol.17 , pp. 242-252
    • Marian, A.J.1
  • 67
    • 0034931034 scopus 로고    scopus 로고
    • Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation
    • Hiroi Y, Kudoh S, Monzen K, Ikeda Y, Yazaki Y, Nagai R, et al. Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation. Nat Genet 2001;28:276-80.
    • (2001) Nat. Genet. , vol.28 , pp. 276-280
    • Hiroi, Y.1    Kudoh, S.2    Monzen, K.3    Ikeda, Y.4    Yazaki, Y.5    Nagai, R.6
  • 68
    • 0032924872 scopus 로고    scopus 로고
    • Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression
    • Wang J, Wilhelmsson H, Graff C, Li H, Oldfors A, Rustin P, et al. Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression. Nat Genet 1999;21:133-7.
    • (1999) Nat. Genet. , vol.21 , pp. 133-137
    • Wang, J.1    Wilhelmsson, H.2    Graff, C.3    Li, H.4    Oldfors, A.5    Rustin, P.6
  • 69
    • 0034987233 scopus 로고    scopus 로고
    • Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death
    • Ibdah JA, Paul H, Zhao Y, Binford S, Salleng K, Cline M, et al. Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death. J Clin Invest 2001;107:1403-9.
    • (2001) J. Clin. Invest. , vol.107 , pp. 1403-1409
    • Ibdah, J.A.1    Paul, H.2    Zhao, Y.3    Binford, S.4    Salleng, K.5    Cline, M.6
  • 70
    • 0035138072 scopus 로고    scopus 로고
    • Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
    • Puccio H, Simon D, Cossee M, Criqui-Filipe P, Tiziano F, Melki J, et al. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet 2001;27:181-6.
    • (2001) Nat. Genet. , vol.27 , pp. 181-186
    • Puccio, H.1    Simon, D.2    Cossee, M.3    Criqui-Filipe, P.4    Tiziano, F.5    Melki, J.6
  • 71
    • 17744395906 scopus 로고    scopus 로고
    • TBX1 is responsible for cardiovascular defects in velo-cardiofacial/DiGeorge syndrome
    • Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, et al. TBX1 is responsible for cardiovascular defects in velo-cardiofacial/DiGeorge syndrome. Cell 2001;104:619-29.
    • (2001) Cell , vol.104 , pp. 619-629
    • Merscher, S.1    Funke, B.2    Epstein, J.A.3    Heyer, J.4    Puech, A.5    Lu, M.M.6
  • 72
    • 0031812730 scopus 로고    scopus 로고
    • Kawasaki disease: An update
    • Singh GK. Kawasaki disease: an update. Indian J Pediatr 1998;65:231-41.
    • (1998) Indian J. Pediatr. , vol.65 , pp. 231-241
    • Singh, G.K.1
  • 73
    • 10744222678 scopus 로고    scopus 로고
    • Detection of viruses in myocardial tissues by polymerase chain reaction: Evidence of adenovirus as a common cause of myocarditis in children and adults
    • Bowles NE, Ni J, Kearney DL, Pauschinger M, Schultheiss HP, McCarthy R, et al. Detection of viruses in myocardial tissues by polymerase chain reaction: evidence of adenovirus as a common cause of myocarditis in children and adults. J Am Coll Cardiol 2003;42:466-72.
    • (2003) J. Am. Coll. Cardiol. , vol.42 , pp. 466-472
    • Bowles, N.E.1    Ni, J.2    Kearney, D.L.3    Pauschinger, M.4    Schultheiss, H.P.5    McCarthy, R.6
  • 75
    • 0034890305 scopus 로고    scopus 로고
    • The heart SNPs a beat: Polymorphisms in candidate genes for cardiovascular disease
    • Daley GQ, Cargill M. The heart SNPs a beat: polymorphisms in candidate genes for cardiovascular disease. Trends Cardiovasc Med 2001;11:60-6.
    • (2001) Trends. Cardiovasc. Med. , vol.11 , pp. 60-66
    • Daley, G.Q.1    Cargill, M.2
  • 76
    • 0034634284 scopus 로고    scopus 로고
    • Myocardial KATP channels in preconditioning
    • O'Rourke B. Myocardial KATP channels in preconditioning. Circulation Res 2000;87:845-55.
    • (2000) Circulation Res. , vol.87 , pp. 845-855
    • O'Rourke, B.1
  • 77
    • 0037047058 scopus 로고    scopus 로고
    • Activation of protein kinases in chronically hypoxic infant human and rabbit hearts: Role in cardioprotection
    • Rafiee P, Shi Y, Kong X, Pritchard KA Jr, Tweddell JS, Litwin SB, et al. Activation of protein kinases in chronically hypoxic infant human and rabbit hearts: role in cardioprotection. Circulation 2002;106:239-45.
    • (2002) Circulation , vol.106 , pp. 239-245
    • Rafiee, P.1    Shi, Y.2    Kong, X.3    Pritchard Jr., K.A.4    Tweddell, J.S.5    Litwin, S.B.6
  • 78
    • 0031942962 scopus 로고    scopus 로고
    • Hypothermia preserves function and signaling for mitochondrial biogenesis during subsequent ischemia
    • Ning XH, Xu CS, Song YC, Xiao Y, Hu YJ, Lupinetti FM, et al. Hypothermia preserves function and signaling for mitochondrial biogenesis during subsequent ischemia. Am J Physiol 1998; 274:H786-93.
    • (1998) Am. J. Physiol. , vol.274
    • Ning, X.H.1    Xu, C.S.2    Song, Y.C.3    Xiao, Y.4    Hu, Y.J.5    Lupinetti, F.M.6
  • 79
    • 0037774683 scopus 로고    scopus 로고
    • Tratamiento mediante hipotermia de la taquicardia ectópica de la unión tras cirugía cardíaca infantil
    • Mosquera Pérez I, Rueda Núñez F, Medrano Ló pez C, Portela Torrón F, Zavanella Botta C, Castro Beiras A. Tratamiento mediante hipotermia de la taquicardia ectópica de la unión tras cirugía cardíaca infantil. Rev Esp Cardiol 2003;56:510-4.
    • (2003) Rev. Esp. Cardiol. , vol.56 , pp. 510-514
    • Pérez, M.I.1    Núñez, R.F.2    López, M.C.3    Torrón, P.F.4    Botta, Z.C.5    Castro Beiras, A.6
  • 80
    • 0141831974 scopus 로고    scopus 로고
    • Antiarrhythmic drug target choices and screening
    • Sanguinetti MC, Bennett PB. Antiarrhythmic drug target choices and screening. Circ Res 2003;93:491-9.
    • (2003) Circ. Res. , vol.93 , pp. 491-499
    • Sanguinetti, M.C.1    Bennett, P.B.2
  • 81
    • 10744228523 scopus 로고    scopus 로고
    • Adult cardiac stem cells are multipotent and support myocardial regeneration
    • Beltrami AP, Barlucchi L, Torella D, Baker M, Limana F, Chimenti S, et al. Adult cardiac stem cells are multipotent and support myocardial regeneration. Cell 2003;114:763-76.
    • (2003) Cell , vol.114 , pp. 763-776
    • Beltrami, A.P.1    Barlucchi, L.2    Torella, D.3    Baker, M.4    Limana, F.5    Chimenti, S.6
  • 82
    • 18744415680 scopus 로고    scopus 로고
    • Systematic analysis of the regulatory and essential myosin light chain genes: Genetic variants and mutations in hypertrophic cardiomyopathy
    • Kabaeva ZT, Perrot A, Wolter B, Dietz R, Cardim N, Correia JM, et al. Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy. Eur J Hum Genet 2002;10:741-8.
    • (2002) Eur. J. Hum. Genet. , vol.10 , pp. 741-748
    • Kabaeva, Z.T.1    Perrot, A.2    Wolter, B.3    Dietz, R.4    Cardim, N.5    Correia, J.M.6
  • 85
    • 0035718893 scopus 로고    scopus 로고
    • Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): Successful prenatal and postmortem diagnosis associated with a novel mutation in a single family
    • Yang BZ, Mallory JM, Roe DS, Brivet M, Strobel GD, Jones KM, et al. Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family. Mol Genet Metab 2001;73:64-70.
    • (2001) Mol. Genet. Metab. , vol.73 , pp. 64-70
    • Yang, B.Z.1    Mallory, J.M.2    Roe, D.S.3    Brivet, M.4    Strobel, G.D.5    Jones, K.M.6
  • 86
    • 0032953645 scopus 로고    scopus 로고
    • Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter
    • Nezu J, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, et al. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet 1999;21:91-4.
    • (1999) Nat. Genet. , vol.21 , pp. 91-94
    • Nezu, J.1    Tamai, I.2    Oku, A.3    Ohashi, R.4    Yabuuchi, H.5    Hashimoto, N.6
  • 87
    • 0038042481 scopus 로고    scopus 로고
    • Carnitine transport: Pathophysiology and metabolism of known molecular defects
    • Tein I. Carnitine transport: pathophysiology and metabolism of known molecular defects. J Inherit Metab Dis 2003;26:147-69.
    • (2003) J. Inherit. Metab. Dis. , vol.26 , pp. 147-169
    • Tein, I.1
  • 88
    • 0028817917 scopus 로고
    • Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood
    • Strauss AW, Powell CK, Hale DE, Anderson MM, Ahuja A, Brackett JC, et al. Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. Proc Natl Acad Sci USA 1995;92:10496-500.
    • (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 10496-10500
    • Strauss, A.W.1    Powell, C.K.2    Hale, D.E.3    Anderson, M.M.4    Ahuja, A.5    Brackett, J.C.6
  • 89
    • 0026006438 scopus 로고
    • Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele
    • Zhong N, Martiniuk F, Tzall S, Hirschhorn R. Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele. Am J Hum Genet 1991;49:635-45.
    • (1991) Am. J. Hum. Genet. , vol.49 , pp. 635-645
    • Zhong, N.1    Martiniuk, F.2    Tzall, S.3    Hirschhorn, R.4
  • 90
    • 0036079985 scopus 로고    scopus 로고
    • Molecular characterization of glycogen storage disease type III
    • Shen JJ, Chen YT. Molecular characterization of glycogen storage disease type III. Curr Mol Med 2002;2:167-75.
    • (2002) Curr. Mol. Med. , vol.2 , pp. 167-175
    • Shen, J.J.1    Chen, Y.T.2
  • 91
    • 0035178136 scopus 로고    scopus 로고
    • Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease
    • Yoshitama T, Nakao S, Takenaka T, Teraguchi H, Sasaki T, Kodama C, et al. Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease. Am J Cardiol 2001;87:71-5.
    • (2001) Am. J. Cardiol. , vol.87 , pp. 71-75
    • Yoshitama, T.1    Nakao, S.2    Takenaka, T.3    Teraguchi, H.4    Sasaki, T.5    Kodama, C.6
  • 92
    • 0028355321 scopus 로고
    • Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial point mutation (T8993G)
    • Pastores GM, Santorelli F, Shanske S, Gelb B, Fyfe B, Wolfe D, et al. Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial point mutation (T8993G). Am J Med Genet 1994;50:265-71.
    • (1994) Am. J. Med. Genet. , vol.50 , pp. 265-271
    • Pastores, G.M.1    Santorelli, F.2    Shanske, S.3    Gelb, B.4    Fyfe, B.5    Wolfe, D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.