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Volumn 29, Issue 6, 2012, Pages 1065-1071

A novel GATA6 mutation associated with congenital ventricular septal defect

Author keywords

Genetics; Transcription factor; Ventricular septal defect

Indexed keywords

AMINO ACID; LUCIFERASE; ZINC FINGER PROTEIN;

EID: 84860539464     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.2012.930     Document Type: Article
Times cited : (44)

References (46)
  • 1
  • 2
    • 2342437550 scopus 로고    scopus 로고
    • Prevalence of congenital heart disease
    • DOI 10.1016/j.ahj.2003.05.003, PII S0002870303007294
    • Hoffman JI, Kaplan S and Liberthson RR: Prevalence of congenital heart disease. Am Heart J 147: 425-439, 2004. (Pubitemid 38880862)
    • (2004) American Heart Journal , vol.147 , Issue.3 , pp. 425-439
    • Hoffman, J.I.E.1    Kaplan, S.2    Liberthson, R.R.3
  • 3
    • 79751531393 scopus 로고    scopus 로고
    • Heart disease and stroke statistics - 2011 update: A report from the American Heart Association
    • American Heart Association Statistics Committee and Stroke Statistics Subcommittee
    • Roger VL, Go AS, Lloyd-Jones DM, Adams RJ, Berry JD, Brown TM, Carnethon MR, Dai S, de Simone G, Ford ES, et al; American Heart Association Statistics Committee and Stroke Statistics Subcommittee: Heart disease and stroke statistics - 2011 update: a report from the American Heart Association. Circulation 123: e18-e209, 2011.
    • (2011) Circulation , vol.123
    • Roger, V.L.1    Go, A.S.2    Lloyd-Jones, D.M.3    Adams, R.J.4    Berry, J.D.5    Brown, T.M.6    Carnethon, M.R.7    Dai, S.8    De Simone, G.9    Ford, E.S.10
  • 4
    • 33750970303 scopus 로고    scopus 로고
    • Ventricular septal defects
    • DOI 10.1161/CIRCULATIONAHA.106.618124, PII 0000301720061114000017
    • Minette MS and Sahn DJ: Ventricular septal defects. Circulation 114: 2190-2197, 2006. (Pubitemid 44747900)
    • (2006) Circulation , vol.114 , Issue.20 , pp. 2190-2197
    • Minette, M.S.1    Sahn, D.J.2
  • 5
    • 40749141587 scopus 로고    scopus 로고
    • Pathophysiology of congenital heart disease in the adult: Part I: Shunt lesions
    • Sommer RJ, Hijazi ZM and Rhodes JF Jr: Pathophysiology of congenital heart disease in the adult: part I: shunt lesions. Circulation 117: 1090-1099, 2008.
    • (2008) Circulation , vol.117 , pp. 1090-1099
    • Sommer, R.J.1    Hijazi, Z.M.2    Rhodes Jr., J.F.3
  • 6
    • 77949911466 scopus 로고    scopus 로고
    • Congenital heart disease and brain development
    • McQuillen PS and Miller SP: Congenital heart disease and brain development. Ann NY Acad Sci 1184: 68-86, 2010.
    • (2010) Ann NY Acad Sci , vol.1184 , pp. 68-86
    • McQuillen, P.S.1    Miller, S.P.2
  • 7
    • 34347370058 scopus 로고    scopus 로고
    • Interventional electrophysiology in patients with congenital heart disease
    • Walsh EP: Interventional electrophysiology in patients with congenital heart disease. Circulation 115: 3224-3234, 2007.
    • (2007) Circulation , vol.115 , pp. 3224-3234
    • Walsh, E.P.1
  • 8
    • 33846685870 scopus 로고    scopus 로고
    • Arrhythmias in adult patients with congenital heart disease
    • DOI 10.1161/CIRCULATIONAHA.105.592410, PII 0000301720070130000016
    • Walsh EP and Cecchin F: Arrhythmias in adult patients with congenital heart disease. Circulation 115: 534-545, 2007. (Pubitemid 46188245)
    • (2007) Circulation , vol.115 , Issue.4 , pp. 534-545
    • Walsh, E.P.1    Cecchin, F.2
  • 9
    • 73349085927 scopus 로고    scopus 로고
    • Sudden cardiac death in adults with congenital heart disease
    • Yap SC and Harris L: Sudden cardiac death in adults with congenital heart disease. Expert Rev Cardiovasc Ther 7: 1605-1620, 2009.
    • (2009) Expert Rev Cardiovasc Ther , vol.7 , pp. 1605-1620
    • Yap, S.C.1    Harris, L.2
  • 10
    • 34250317669 scopus 로고    scopus 로고
    • Noninherited risk factors and congenital cardiovascular defects: Current knowledge - A scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young
    • DOI 10.1161/CIRCULATIONAHA.106.183216, PII 0000301720070612000016
    • Jenkins KJ, Correa A, Feinstein JA, Botto L, Britt AE, Daniels SR, Elixson M, Warnes CA and Webb CL; American Heart Association Council on Cardiovascular Disease in the Young: Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation 115: 2995-3014, 2007. (Pubitemid 46912106)
    • (2007) Circulation , vol.115 , Issue.23 , pp. 2995-3014
    • Jenkins, K.J.1    Correa, A.2    Feinstein, J.A.3    Botto, L.4    Britt, A.E.5    Daniels, S.R.6    Elixson, M.7    Warnes, C.A.8    Webb, C.L.9
  • 11
    • 34250305402 scopus 로고    scopus 로고
    • Genetic basis for congenital heart defects: Current knowledge - A scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young
    • DOI 10.1161/CIRCULATIONAHA.106.183056, PII 0000301720070612000017
    • Pierpont ME, Basson CT, Benson DW Jr, Gelb BD, Giglia TM, Goldmuntz E, McGee G, Sable CA, Srivastava D and Webb CL; American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation 115: 3015-3038, 2007. (Pubitemid 46912107)
    • (2007) Circulation , vol.115 , Issue.23 , pp. 3015-3038
    • Pierpont, M.E.1    Basson, C.T.2    Benson Jr., D.W.3    Gelb, B.D.4    Giglia, T.M.5    Goldmuntz, E.6    McGee, G.7    Sable, C.A.8    Srivastava, D.9    Webb, C.L.10
  • 12
    • 3142566471 scopus 로고    scopus 로고
    • GATA transcription factors in the developing and adult heart
    • DOI 10.1016/j.cardiores.2004.03.025, PII S0008636304001543
    • Pikkarainen S, Tokola H, Kerkelä R and Ruskoaho H: GATA transcription factors in the developing and adult heart. Cardiovasc Res 63: 196-207, 2004. (Pubitemid 38900834)
    • (2004) Cardiovascular Research , vol.63 , Issue.2 , pp. 196-207
    • Pikkarainen, S.1    Tokola, H.2    Kerkela, R.3    Ruskoaho, H.4
  • 13
    • 37349129016 scopus 로고    scopus 로고
    • Genetic insights into normal and abnormal heart development
    • Nemer M: Genetic insights into normal and abnormal heart development. Cardiovasc Pathol 17: 48-54, 2008.
    • (2008) Cardiovasc Pathol , vol.17 , pp. 48-54
    • Nemer, M.1
  • 14
    • 77949795729 scopus 로고    scopus 로고
    • Genetic origins of pediatric heart disease
    • Benson DW: Genetic origins of pediatric heart disease. Pediatr Cardiol 31: 422-429, 2010.
    • (2010) Pediatr Cardiol , vol.31 , pp. 422-429
    • Benson, D.W.1
  • 15
    • 0034671733 scopus 로고    scopus 로고
    • The zinc finger-containing transcription factors GATA-4, -5, and -6. Ubiquitously expressed regulators of tissue-specific gene expression
    • Molkentin JD: The zinc finger-containing transcription factors GATA-4, -5, and -6. Ubiquitously expressed regulators of tissue-specific gene expression. J Biol Chem 275: 38949-38952, 2000.
    • (2000) J Biol Chem , vol.275 , pp. 38949-38952
    • Molkentin, J.D.1
  • 17
    • 33748795380 scopus 로고    scopus 로고
    • GATA factors in vertebrate heart development and disease
    • DOI 10.1017/S1462399406000093, PII S1462399406000093
    • Brewer A and Pizzey J: GATA factors in vertebrate heart development and disease. Expert Rev Mol Med 8: 1-20, 2006. (Pubitemid 44404697)
    • (2006) Expert Reviews in Molecular Medicine , vol.8 , Issue.22 , pp. 1-20
    • Brewer, A.1    Pizzey, J.2
  • 20
    • 26444441866 scopus 로고    scopus 로고
    • GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart
    • Reamon-Buettner SM and Borlak J: GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart. J Med Genet 42: e32, 2005.
    • (2005) J Med Genet , vol.42
    • Reamon-Buettner, S.M.1    Borlak, J.2
  • 25
    • 56649112929 scopus 로고    scopus 로고
    • GATA4 mutations in 486 Chinese patients with congenital heart disease
    • Zhang W, Li X, Shen A, Jiao W, Guan X and Li Z: GATA4 mutations in 486 Chinese patients with congenital heart disease. Eur J Med Genet 51: 527-535, 2008.
    • (2008) Eur J Med Genet , vol.51 , pp. 527-535
    • Zhang, W.1    Li, X.2    Shen, A.3    Jiao, W.4    Guan, X.5    Li, Z.6
  • 34
    • 36549030278 scopus 로고    scopus 로고
    • Gata5 and Gata6 are functionally redundant in zebrafish for specification of cardiomyocytes
    • DOI 10.1016/j.ydbio.2007.09.018, PII S0012160607013723
    • Holtzinger A and Evans T: Gata5 and Gata6 are functionally redundant in zebrafish for specification of cardiomyocytes. Dev Biol 312: 613-622, 2007. (Pubitemid 350183971)
    • (2007) Developmental Biology , vol.312 , Issue.2 , pp. 613-622
    • Holtzinger, A.1    Evans, T.2
  • 35
    • 43049103483 scopus 로고    scopus 로고
    • Loss of both GATA4 and GATA6 blocks cardiac myocyte differentiation and results in acardia in mice
    • Zhao R, Watt AJ, Battle MA, Li J, Bondow BJ and Duncan SA: Loss of both GATA4 and GATA6 blocks cardiac myocyte differentiation and results in acardia in mice. Dev Biol 317: 614-619, 2008.
    • (2008) Dev Biol , vol.317 , pp. 614-619
    • Zhao, R.1    Watt, A.J.2    Battle, M.A.3    Li, J.4    Bondow, B.J.5    Duncan, S.A.6
  • 39
    • 77957274392 scopus 로고    scopus 로고
    • Identification of GATA6 sequence variants in patients with congenital heart defects
    • Maitra M, Koenig SN, Srivastava D and Garg V: Identification of GATA6 sequence variants in patients with congenital heart defects. Pediatr Res 68: 281-285, 2010.
    • (2010) Pediatr Res , vol.68 , pp. 281-285
    • Maitra, M.1    Koenig, S.N.2    Srivastava, D.3    Garg, V.4
  • 42
    • 80053118299 scopus 로고    scopus 로고
    • GATA5 interacts with GATA4 and GATA6 in outflow tract development
    • Laforest B and Nemer M: GATA5 interacts with GATA4 and GATA6 in outflow tract development. Dev Biol 358: 368-378, 2011.
    • (2011) Dev Biol , vol.358 , pp. 368-378
    • Laforest, B.1    Nemer, M.2
  • 45
    • 84860510791 scopus 로고    scopus 로고
    • Novel NKX2-5 mutations responsible for congenital heart disease
    • Wang J, Liu XY and Yang YQ: Novel NKX2-5 mutations responsible for congenital heart disease. Genet Mol Res 10: 2905-2915, 2011.
    • (2011) Genet Mol Res , vol.10 , pp. 2905-2915
    • Wang, J.1    Liu, X.Y.2    Yang, Y.Q.3
  • 46
    • 0032533241 scopus 로고    scopus 로고
    • GATA6 regulates HNF4 and is required for differentiation of visceral endoderm in the mouse embryo
    • Morrisey EE, Tang Z, Sigrist K, Lu MM, Jiang F, Ip HS and Parmacek MS: GATA6 regulates HNF4 and is required for differentiation of visceral endoderm in the mouse embryo. Genes Dev 12: 3579-3590, 1998. (Pubitemid 28553248)
    • (1998) Genes and Development , vol.12 , Issue.22 , pp. 3579-3590
    • Morrisey, E.E.1    Tang, Z.2    Sigrist, K.3    Lu, M.M.4    Jiang, F.5    Ip, H.S.6    Parmacek, M.S.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.