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Volumn 11, Issue 1, 2005, Pages 14-23

An understanding the genetic basis of congenital heart disease

Author keywords

Chromosome; Congenital heart disease; GATA 4; NKX 2.5; Syndrome; Transcription factors

Indexed keywords

ELASTIN; FIBRILLIN; JAGGED1; PROTEIN; PROTEIN TBX5; TRANSCRIPTION FACTOR GATA 4; UNCLASSIFIED DRUG;

EID: 33645552610     PISSN: 09716866     EISSN: None     Source Type: Journal    
DOI: 10.4103/0971-6866.16289     Document Type: Review
Times cited : (8)

References (72)
  • 1
    • 0035047622 scopus 로고    scopus 로고
    • Genetic assembly of the heart: Implication of congenital heart disease
    • Srivastava D. Genetic assembly of the heart: Implication of congenital heart disease. Annu Rev Physiol 2001;63:451-69.
    • (2001) Annu Rev Physiol , vol.63 , pp. 451-469
    • Srivastava, D.1
  • 2
    • 0033667464 scopus 로고    scopus 로고
    • Transcriptional Regulation of cardiac development implications for CHD and Digeorge syndrome
    • Epstein JA, Buck CA. Transcriptional Regulation of cardiac development implications for CHD and Digeorge syndrome. Pediatr Res 2000;48:717-24.
    • (2000) Pediatr Res , vol.48 , pp. 717-724
    • Epstein, J.A.1    Buck, C.A.2
  • 3
    • 0037155776 scopus 로고    scopus 로고
    • Transcriptional regulation of vertebrate cardiac morphogenesis
    • Bruneau BG. Transcriptional regulation of vertebrate cardiac morphogenesis. Circ Res 2002;90:509-19.
    • (2002) Circ Res , vol.90 , pp. 509-519
    • Bruneau, B.G.1
  • 5
    • 0347818423 scopus 로고
    • Genetic issues of congenital heart disease
    • Gessner IH, Victrorica BE, editors. Philadelphia: Saunders
    • Frias JL. Genetic issues of congenital heart disease. In: Gessner IH, Victrorica BE, editors. Pediatric cardiology. Philadelphia: Saunders; 1993. p. 237-42.
    • (1993) Pediatric Cardiology , pp. 237-242
    • Frias, J.L.1
  • 6
    • 0037134945 scopus 로고    scopus 로고
    • The incidence of congenital heart disease
    • Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002;39:1890-900.
    • (2002) J Am Coll Cardiol , vol.39 , pp. 1890-1900
    • Hoffman, J.I.1    Kaplan, S.2
  • 7
    • 0035378641 scopus 로고    scopus 로고
    • Epidemiological study of congenital heart disease
    • Chadha SL, Singh N, Shukla DK. Epidemiological study of congenital heart disease. Indian J Pediatr 2001;68:507-10.
    • (2001) Indian J Pediatr , vol.68 , pp. 507-510
    • Chadha, S.L.1    Singh, N.2    Shukla, D.K.3
  • 12
    • 0028855774 scopus 로고
    • Towards a molecular understanding of congenital heart disease
    • Payne M, Johnson MC, Grant JW, Strauss AW. Towards a molecular understanding of congenital heart disease. Circulation 1995;91:494-504.
    • (1995) Circulation , vol.91 , pp. 494-504
    • Payne, M.1    Johnson, M.C.2    Grant, J.W.3    Strauss, A.W.4
  • 13
    • 33645543593 scopus 로고    scopus 로고
    • http://www.noah.cuny.edu/pregnancy/march_of_dimes/birth_disease/congnitl. html
  • 14
    • 0029900006 scopus 로고    scopus 로고
    • Development genetics of the heart
    • Burn J, Goodship J. Development genetics of the heart. Curr Opin Genet Dev 1996;6:322-5.
    • (1996) Curr Opin Genet Dev , vol.6 , pp. 322-325
    • Burn, J.1    Goodship, J.2
  • 16
    • 0018188023 scopus 로고
    • Frequency of Down syndrome in live births by single year maternal age interval; results of a Massachusetts study
    • Hook EB, Fabia JJ. Frequency of Down syndrome in live births by single year maternal age interval; results of a Massachusetts study. Teratology 1978;17:223-8.
    • (1978) Teratology , vol.17 , pp. 223-228
    • Hook, E.B.1    Fabia, J.J.2
  • 17
    • 0028147479 scopus 로고
    • Survival in trisomy 18
    • Root S, Carey JC. Survival in trisomy 18. Am J Med Genet 1994;49:170-4.
    • (1994) Am J Med Genet , vol.49 , pp. 170-174
    • Root, S.1    Carey, J.C.2
  • 18
    • 0025044461 scopus 로고
    • Echocardiographic evaluation of the spectrum of cardiac anomalies associated with trisomy 13 and trisomy 18
    • Musewe NN, Alexander DJ, Teshima I, Smallhorn JF, Freedom RM. Echocardiographic evaluation of the spectrum of cardiac anomalies associated with trisomy 13 and trisomy 18. J Am Coll Cardiol 1990;15:673-7.
    • (1990) J Am Coll Cardiol , vol.15 , pp. 673-677
    • Musewe, N.N.1    Alexander, D.J.2    Teshima, I.3    Smallhorn, J.F.4    Freedom, R.M.5
  • 20
    • 0031796966 scopus 로고    scopus 로고
    • Congenital heart disease in patients with Turners syndrome
    • Italian study group for Turner syndrome (ISGTS)
    • Mazzanti L, Cacciari E. Congenital heart disease in patients with Turners syndrome. Italian study group for Turner syndrome (ISGTS). J Pediatr 1998;133:688-92.
    • (1998) J Pediatr , vol.133 , pp. 688-692
    • Mazzanti, L.1    Cacciari, E.2
  • 22
    • 0023267179 scopus 로고
    • Isochromosome 12pmosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): Report of 11 cases
    • Reylonds JF, Daniel A, Kelly TE, Gollin SM, Stephan MJ, Carey J, et al. Isochromosome 12pmosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): Report of 11 cases. Am J Med Genet 1987;27:257-74.
    • (1987) Am J Med Genet , vol.27 , pp. 257-274
    • Reylonds, J.F.1    Daniel, A.2    Kelly, T.E.3    Gollin, S.M.4    Stephan, M.J.5    Carey, J.6
  • 23
    • 25844435521 scopus 로고    scopus 로고
    • Fragile X syndrome
    • Cassidy SB, Allanson JE, editors. New York: Wiley-Liss
    • Hagerman R. Fragile X syndrome In: Cassidy SB, Allanson JE, editors. Management of Genetic Syndrome. New York: Wiley-Liss; 2001;554:165-83.
    • (2001) Management of Genetic Syndrome , vol.554 , pp. 165-183
    • Hagerman, R.1
  • 24
    • 0036550531 scopus 로고    scopus 로고
    • Genetics and Cardiac Anomalies: The Heart of the Matter
    • Prasad C, Chudley AE. Genetics and Cardiac Anomalies: the Heart of the Matter. Indian J Pediatr 2002;69:321-32.
    • (2002) Indian J Pediatr , vol.69 , pp. 321-332
    • Prasad, C.1    Chudley, A.E.2
  • 25
    • 0034933113 scopus 로고    scopus 로고
    • Absences of mutations in human Ubiquituin fusion-degradation protein gene in Teratology of Fallot
    • Chung MY, Lu JH, Weng YY, Hwang B. Absences of mutations in human Ubiquituin fusion-degradation protein gene in Teratology of Fallot. J Mol Med 2001;79:338-42.
    • (2001) J Mol Med , vol.79 , pp. 338-342
    • Chung, M.Y.1    Lu, J.H.2    Weng, Y.Y.3    Hwang, B.4
  • 26
    • 0035098557 scopus 로고    scopus 로고
    • Wrapping up DiGeorge Syndrome in a T-box?
    • Kim MS, Basson CT. Wrapping up DiGeorge Syndrome in a T-box?. Nature Genet 2001;27:286-91.
    • (2001) Nature Genet , vol.27 , pp. 286-291
    • Kim, M.S.1    Basson, C.T.2
  • 29
    • 0035923555 scopus 로고    scopus 로고
    • NKX2.5 mutations in patients with TOF
    • Goldmutz E, Geiger E, Benson W. NKX2.5 mutations in patients with TOF. Circulation 2001;104:2565-8.
    • (2001) Circulation , vol.104 , pp. 2565-2568
    • Goldmutz, E.1    Geiger, E.2    Benson, W.3
  • 33
    • 0027368288 scopus 로고
    • Cardiologic abnormalities in Noonan syndrome phenotypic diagnosis and echocardiographic assessment of 118 patients
    • Burch M, Sharland M, Shinebourne E, Smith G, Pattern M, McKenna W. Cardiologic abnormalities in Noonan syndrome phenotypic diagnosis and echocardiographic assessment of 118 patients. J Am Coll Cardiol 1993;22:1189-92.
    • (1993) J Am Coll Cardiol , vol.22 , pp. 1189-1192
    • Burch, M.1    Sharland, M.2    Shinebourne, E.3    Smith, G.4    Pattern, M.5    McKenna, W.6
  • 36
    • 0034102083 scopus 로고    scopus 로고
    • Ellis-Van Creveld syndrome and the Amish
    • Mc Kusick VA. Ellis-Van Creveld syndrome and the Amish. Nat Genet 2000;24:203-4.
    • (2000) Nat Genet , vol.24 , pp. 203-204
    • Mc Kusick, V.A.1
  • 37
    • 0034104297 scopus 로고    scopus 로고
    • Mutations in a new gene in Ellis-Van creveld syndrome and weyers acrodental dysostosis
    • Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, et al. Mutations in a new gene in Ellis-Van creveld syndrome and weyers acrodental dysostosis. Nat Genet 2000;21:283-6.
    • (2000) Nat Genet , vol.21 , pp. 283-286
    • Ruiz-Perez, V.L.1    Ide, S.E.2    Strom, T.M.3    Lorenz, B.4    Wilson, D.5    Woods, K.6
  • 41
    • 0043267988 scopus 로고    scopus 로고
    • GATA4 mutations cause human congenital heart disease and reveal an interaction with TBX5
    • Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, et al. GATA4 mutations cause human congenital heart disease 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    Butler, C.A.6
  • 42
    • 0030636780 scopus 로고    scopus 로고
    • Mutation in human TBX5 cause limb and cardiac malformation in Holt Oram syndrome
    • Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, et al. Mutation in human TBX5 cause limb and cardiac malformation in Holt Oram syndrome. Nat Gent 1997;15:30-5.
    • (1997) Nat Gent , vol.15 , pp. 30-35
    • Basson, C.T.1    Bachinsky, D.R.2    Lin, R.C.3    Levi, T.4    Elkins, J.A.5    Soults, J.6
  • 43
    • 0034608285 scopus 로고    scopus 로고
    • Three novel TBX5 mutations in Chinese patients with Holt Oram syndrome
    • Yang J, Hu D, Xia J, Yang Y, Ying B, Hu J, et al. Three novel TBX5 mutations in Chinese patients with Holt Oram syndrome. Am J Med Genet 2000;92:237-40.
    • (2000) Am J Med Genet , vol.92 , pp. 237-240
    • Yang, J.1    Hu, D.2    Xia, J.3    Yang, Y.4    Ying, B.5    Hu, J.6
  • 44
    • 1842413728 scopus 로고    scopus 로고
    • Holt Oram syndrome is caused by mutations in TBX5 a member of the Brachyury (T) gene family
    • Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, Curtis AR, Yi CH, et al. Holt Oram syndrome is caused by mutations in TBX5 a member of the Brachyury (T) gene family. Nat Genet 1997;15:21-9.
    • (1997) Nat Genet , vol.15 , pp. 21-29
    • Li, Q.Y.1    Newbury-Ecob, R.A.2    Terrett, J.A.3    Wilson, D.I.4    Curtis, A.R.5    Yi, C.H.6
  • 45
    • 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
  • 47
    • 0034650311 scopus 로고    scopus 로고
    • Cardiac expression of the ventricle-specific homeobox gene Irx4 is modulated by Nkx2-5 and dHand
    • Bruneau BG, Bao ZZ, Tanaka M, Schott JJ, Izumo S, Cepko CL, et al. Cardiac expression of the ventricle-specific homeobox gene Irx4 is modulated by Nkx2-5 and dHand. Dev Biol 2000;217:266-77.
    • (2000) Dev Biol , vol.217 , pp. 266-277
    • Bruneau, B.G.1    Bao, Z.Z.2    Tanaka, M.3    Schott, J.J.4    Izumo, S.5    Cepko, C.L.6
  • 48
    • 0038875342 scopus 로고    scopus 로고
    • Alagille syndrome is caused by Mutations in human Jagged 1, which encodes a Ligand for Notch 1
    • Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, et al. Alagille syndrome is caused by Mutations in human Jagged 1, which encodes a Ligand for Notch 1. Nat Genet 1997;16:243-51.
    • (1997) Nat Genet , vol.16 , pp. 243-251
    • Li, L.1    Krantz, I.D.2    Deng, Y.3    Genin, A.4    Banta, A.B.5    Collins, C.C.6
  • 49
  • 50
    • 0034022637 scopus 로고    scopus 로고
    • Mutations in TFAP2B cause char syndrome a familial form of patent ductus arteriosus
    • Sacoda M, et al. Mutations in TFAP2B cause char syndrome a familial form of patent ductus arteriosus. Nature Genet 2000;25:42-6.
    • (2000) Nature Genet , vol.25 , pp. 42-46
    • Sacoda, M.1
  • 52
    • 0034648772 scopus 로고    scopus 로고
    • A genetic blue print for cardiac development
    • Srivastava D, Olson EN. A genetic blue print for cardiac development. Nature 2000;407:221-6.
    • (2000) Nature , vol.407 , pp. 221-226
    • Srivastava, D.1    Olson, E.N.2
  • 53
    • 0017598989 scopus 로고
    • Incidence of congenital heat disease in Blackpool 1957-1971
    • Bound JP, Logan WF. Incidence of congenital heat disease in Blackpool 1957-1971. Br Heart J 1977;39:445-50.
    • (1977) Br Heart J , vol.39 , pp. 445-450
    • Bound, J.P.1    Logan, W.F.2
  • 54
    • 0016696058 scopus 로고
    • Congenital heart disease in Liver pool: 1960-69
    • Kenna AP, Smithells RW, Fielding DW. Congenital heart disease in Liver pool: 1960-69. Q J Med 1975;44:17-44.
    • (1975) Q J Med , vol.44 , pp. 17-44
    • Kenna, A.P.1    Smithells, R.W.2    Fielding, D.W.3
  • 55
    • 0026289055 scopus 로고
    • Seasonal differences in the incidence of congenital heart disease
    • Samanek M, Slavik Z, Krejcir M. Seasonal differences in the incidence of congenital heart disease. Czech Med 1991;14:146-55.
    • (1991) Czech Med , vol.14 , pp. 146-155
    • Samanek, M.1    Slavik, Z.2    Krejcir, M.3
  • 57
    • 0344182964 scopus 로고    scopus 로고
    • Congenital heart disease among 815,569 children born 1980 and 1990 and their 15 year survival: A prospective Bohemia survival study
    • Samanek M, Slavik Z, Krejcir M. Congenital heart disease among 815,569 children born 1980 and 1990 and their 15 year survival: A prospective Bohemia survival study. Pediatr Cardiol 1999;20:411-7.
    • (1999) Pediatr Cardiol , vol.20 , pp. 411-417
    • Samanek, M.1    Slavik, Z.2    Krejcir, M.3
  • 58
    • 0028064926 scopus 로고
    • Congenital heart disease: A 10 year cohort
    • Bower C, Ramsay JM. Congenital heart disease: A 10 year cohort. J Paediatr Child Health 1994;30:414-8.
    • (1994) J Paediatr Child Health , vol.30 , pp. 414-418
    • Bower, C.1    Ramsay, J.M.2
  • 60
    • 0030754141 scopus 로고    scopus 로고
    • Incidences of congenital heart disease in Qatari children
    • Robida A, Folger GM, Hajar HA. Incidences of congenital heart disease in Qatari children. Int J Cardiol 1997;60:19-22.
    • (1997) Int J Cardiol , vol.60 , pp. 19-22
    • Robida, A.1    Folger, G.M.2    Hajar, H.A.3
  • 61
    • 0028338932 scopus 로고
    • Increasing incidence of ventricular septal disease caused by improved detection rate
    • Meberg A, Otterstad JE, Froland G, Sorland S, NitterHauge S. Increasing incidence of ventricular septal disease caused by improved detection rate. Acta Paediatr 1994;83:653-7.
    • (1994) Acta Paediatr , vol.83 , pp. 653-657
    • Meberg, A.1    Otterstad, J.E.2    Froland, G.3    Sorland, S.4    Nitterhauge, S.5
  • 62
    • 0031088511 scopus 로고    scopus 로고
    • Profile and risk factors for congenital heart disease
    • Hassan I, Haleem AA, Bhutta ZA. Profile and risk factors for congenital heart disease. J Pak Med Assoc 1997;47:78-81.
    • (1997) J Pak Med Assoc , vol.47 , pp. 78-81
    • Hassan, I.1    Haleem, A.A.2    Bhutta, Z.A.3
  • 66
    • 0037341936 scopus 로고    scopus 로고
    • Epidemiological and clinical aspects of congenital heart disease in children in Tuzla Canton, Bosnia-Herzegovina
    • Begic H, Tahirovic H, Mesihovic-Dinarevic S, Ferkovic V, Atic n, Latifagic A. Epidemiological and clinical aspects of congenital heart disease in children in Tuzla Canton, Bosnia-Herzegovina. Eur J Pediatr 2003;162:191-3.
    • (2003) Eur J Pediatr , vol.162 , pp. 191-193
    • Begic, H.1    Tahirovic, H.2    Mesihovic-Dinarevic, S.3    Ferkovic, V.4    Atic, N.5    Latifagic, A.6
  • 67
    • 0034502535 scopus 로고    scopus 로고
    • Congenital heart disease among school children in Alexandria, Egypt: An overview on prevalence and relative frequencies
    • Bassili A, Mokhtar SA, Dabous NI, Zaher SR, Mokhtar MM, Zaki A. Congenital heart disease among school children in Alexandria, Egypt: An overview on prevalence and relative frequencies. J Trop Pediatr 2000;46:357-62.
    • (2000) J Trop Pediatr , vol.46 , pp. 357-362
    • Bassili, A.1    Mokhtar, S.A.2    Dabous, N.I.3    Zaher, S.R.4    Mokhtar, M.M.5    Zaki, A.6
  • 68
    • 0034948412 scopus 로고    scopus 로고
    • Congenital heart disease in 740 subjects: Epidemiological aspects
    • Alabdulgader A. Congenital heart disease in 740 subjects: Epidemiological aspects. Ann Trop Paediatr 2001;21:111-8.
    • (2001) Ann Trop Paediatr , vol.21 , pp. 111-118
    • Alabdulgader, A.1
  • 69
    • 33645550135 scopus 로고    scopus 로고
    • Spectrum of congenital heart disease associated with Downs in high consanguineous Omani population
    • Venugopalan P, Agarwal AK. Spectrum of congenital heart disease associated with Downs in high consanguineous Omani population. Int J Cardiol 2002;4:211-6.
    • (2002) Int J Cardiol , vol.4 , pp. 211-216
    • Venugopalan, P.1    Agarwal, A.K.2
  • 71
    • 0029261758 scopus 로고
    • Frequency of various congenital heart disease: Analysis of 3790 consecutively catheterized patients
    • Suresh V, Rao AS, Yavagal ST. Frequency of various congenital heart disease: analysis of 3790 consecutively catheterized patients. Indian heart J 1995;7:125-8.
    • (1995) Indian Heart J , vol.7 , pp. 125-128
    • Suresh, V.1    Rao, A.S.2    Yavagal, S.T.3
  • 72
    • 0032975539 scopus 로고    scopus 로고
    • Familial atrial septal disease and atrioventricular conduction disturbance associated with a point mutations in the cardiac homeobox gene CSX/NKX2.5 in a Japanese patient
    • Hosoda T, Komuro I, Shiojima I, Hiroi Y, Harada M, Murakawa Y, et al. Familial atrial septal disease and atrioventricular conduction disturbance associated with a point mutations in the cardiac homeobox gene CSX/NKX2.5 in a Japanese patient. Jpn Circ J 1999;63:425-6.
    • (1999) Jpn Circ J , vol.63 , pp. 425-426
    • Hosoda, T.1    Komuro, I.2    Shiojima, I.3    Hiroi, Y.4    Harada, M.5    Murakawa, Y.6


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