메뉴 건너뛰기




Volumn 9, Issue 6, 2013, Pages 976-983

Mutation spectrum of GATA4 associated with congenital atrial septal defects

Author keywords

Atrial septal defect; Genetics; Transcription factor

Indexed keywords

GENOMIC DNA; TRANSCRIPTION FACTOR GATA 4;

EID: 84892419806     PISSN: 17341922     EISSN: 18969151     Source Type: Journal    
DOI: 10.5114/aoms.2013.39788     Document Type: Article
Times cited : (20)

References (36)
  • 1
    • 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 209
    • Roger VL, Go AS, Lloyd-Jones DM, 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 2011; 123: E18-209.
    • (2011) Circulation , vol.123
    • Roger, V.L.1    Go, A.S.2    Lloyd-Jones, D.M.3
  • 2
    • 33846220206 scopus 로고    scopus 로고
    • Congenital heart disease in the general population: Changing prevalence and age distribution
    • Marelli AJ, Mackie AS, Ionescu-Ittu R, Rahme E, Pilote L. Congenital heart disease in the general population: Changing prevalence and age distribution. Circulation 2007; 115: 163-72.
    • (2007) Circulation , vol.115 , pp. 163-172
    • Marelli, A.J.1    Mackie, A.S.2    Ionescu-Ittu, R.3    Rahme, E.4    Pilote, L.5
  • 3
    • 40749141587 scopus 로고    scopus 로고
    • Pathophysiology of congenital heart disease in the adult: Part I: Shunt lesions
    • Sommer RJ, Hijazi ZM, Rhodes JF Jr. Pathophysiology of congenital heart disease in the adult: Part I: Shunt lesions. Circulation 2008; 117: 1090-9.
    • (2008) Circulation , vol.117 , pp. 1090-1099
    • Sommer, R.J.1    Hijazi, Z.M.2    Rhodes Jr., J.F.3
  • 4
    • 77951946381 scopus 로고    scopus 로고
    • Evaluation of exercise capacity with cardiopulmonary exercise testing and BNP levels in adult patients with single or systemic right ventricles
    • Trojnarska O, Gwizdaa A, Katarzyski S, et al. Evaluation of exercise capacity with cardiopulmonary exercise testing and BNP levels in adult patients with single or systemic right ventricles. Arch Med Sci 2010; 6: 192-7.
    • (2010) Arch Med Sci , vol.6 , pp. 192-197
    • Trojnarska, O.1    Gwizdaa, A.2    Katarzyski, S.3
  • 5
    • 77949911466 scopus 로고    scopus 로고
    • Congenital heart disease and brain development
    • McQuillen PS, Miller SP. Congenital heart disease and brain development. Ann N Y Acad Sci 2010; 1184: 68-86.
    • (2010) Ann N y Acad Sci , vol.1184 , pp. 68-86
    • McQuillen, P.S.1    Miller, S.P.2
  • 6
    • 33846685870 scopus 로고    scopus 로고
    • Arrhythmias in adult patients with congenital heart disease
    • Walsh EP, Cecchin F. Arrhythmias in adult patients with congenital heart disease. Circulation 2007; 115: 534-45.
    • (2007) Circulation , vol.115 , pp. 534-545
    • Walsh, E.P.1    Cecchin, F.2
  • 7
    • 33745306275 scopus 로고    scopus 로고
    • Risk factors for atrial fibrillation in adult patients in long-term observation following surgical closure of atrial septal defect type II
    • Piechowiak M, Banach M, Ruta J, et al. Risk factors for atrial fibrillation in adult patients in long-term observation following surgical closure of atrial septal defect type II. Thorac Cardiovasc Surg 2006; 54: 259-63.
    • (2006) Thorac Cardiovasc Surg , vol.54 , pp. 259-263
    • Piechowiak, M.1    Banach, M.2    Ruta, J.3
  • 8
    • 33745325870 scopus 로고    scopus 로고
    • Permanent cardiac pacing in adult patients with con-genital heart disease after cardiac surgery
    • Trojnarska O, Brborowicz P, Ochotny O, Cieliski A. Permanent cardiac pacing in adult patients with con-genital heart disease after cardiac surgery. Arch Med Sci 2005; 1: 211-7.
    • (2005) Arch Med Sci , vol.1 , pp. 211-217
    • Trojnarska, O.1    Brborowicz, P.2    Ochotny, O.3    Cieliski, A.4
  • 9
    • 73349085927 scopus 로고    scopus 로고
    • Sudden cardiac death in adults with congenital heart disease
    • Yap SC, Harris L. Sudden cardiac death in adults with congenital heart disease. Expert Rev Cardiovasc Ther 2009; 7: 1605-20.
    • (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 cardio-vascular defects: Current knowledge: A scientific sta-tement from the american heart association council on cardiovascular disease in the young: Endorsed by the american academy of pediatrics
    • American Heart Association Council On Cardiovascular Disease In The Young
    • Jenkins KJ, Correa A, Feinstein JA, et al.; American Heart Association Council on Cardiovascular Disease in the Young. Noninherited risk factors and congenital cardio-vascular defects: Current knowledge: A scientific sta-tement from the American Heart Association Council on Cardiovascular Disease in the Young: Endorsed by the American Academy of Pediatrics. Circulation 2007; 115: 2995-3014.
    • (2007) Circulation , vol.115 , pp. 2995-3014
    • Jenkins, K.J.1    Correa, A.2    Feinstein, J.A.3
  • 11
    • 34250305402 scopus 로고    scopus 로고
    • Genetic basis for congenital heart defects: Current knowledge: A scientific statement from the american heart as-sociation congenital cardiac defects committee council on cardiovascular disease in the young: Endorsed by the american academy of pediatrics
    • American Heart Association Congenital Cardiac Defects Committee Council On Cardiovascular Disease In The Young
    • Pierpont ME, Basson CT, Benson DW Jr, et al.; 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 As-sociation Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: Endorsed by the American Academy of Pediatrics. Circulation 2007; 115: 3015-38.
    • (2007) Circulation , vol.115 , pp. 3015-3038
    • Pierpont, M.E.1    Basson, C.T.2    Benson Jr., D.W.3
  • 13
  • 14
    • 0029024472 scopus 로고
    • Assignment of the transcription factor GATA4 gene to human chromosome 8 and mouse chromosome 14: Gata4 is a candidate gene for Ds (disorganization)
    • White RA, Dowler LL, Pasztor LM, et al. Assignment of the transcription factor GATA4 gene to human chromosome 8 and mouse chromosome 14: Gata4 is a candidate gene for Ds (disorganization). Genomics 1995; 27: 20-6.
    • (1995) Genomics , vol.27 , pp. 20-26
    • White, R.A.1    Dowler, L.L.2    Pasztor, L.M.3
  • 15
    • 0043267988 scopus 로고    scopus 로고
    • GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
    • Garg V, Kathiriya IS, Barnes R, 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
  • 16
    • 16544371915 scopus 로고    scopus 로고
    • A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family
    • Okubo A, Miyoshi O, Baba K, et al. A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family. J Med Genet 2004; 41: E97.
    • (2004) J Med Genet , vol.41
    • Okubo, A.1    Miyoshi, O.2    Baba, K.3
  • 17
    • 28444447608 scopus 로고    scopus 로고
    • Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors
    • Sarkozy A, Conti E, Neri C, et al. Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors. J Med Genet 2005; 42: E16.
    • (2005) J Med Genet , vol.42
    • Sarkozy, A.1    Conti, E.2    Neri, C.3
  • 18
    • 20944442976 scopus 로고    scopus 로고
    • Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect
    • Hirayama-Yamada K, Kamisago M, Akimoto K, et al. Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. Am J Med Genet A 2005; 135: 47-52.
    • (2005) Am J Med Genet A , vol.135 , pp. 47-52
    • Hirayama-Yamada, K.1    Kamisago, M.2    Akimoto, K.3
  • 19
    • 33746608567 scopus 로고    scopus 로고
    • A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot
    • Nemer G, Fadlalah F, Usta J, et al. A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot. Hum Mutat 2006; 27: 293-4.
    • (2006) Hum Mutat , vol.27 , pp. 293-294
    • Nemer, G.1    Fadlalah, F.2    Usta, J.3
  • 20
    • 37249090635 scopus 로고    scopus 로고
    • Gold-muntz E. GATA4 sequence variants in patients with congenital heart disease
    • Tomita-Mitchell A, Maslen CL, Morris CD, Garg V, Gold-muntz E. GATA4 sequence variants in patients with congenital heart disease. J Med Genet 2007; 44: 779-83.
    • (2007) J Med Genet , vol.44 , pp. 779-783
    • Tomita-Mitchell, A.1    Maslen, C.L.2    Morris, C.D.3    Garg, V.4
  • 21
    • 35048838310 scopus 로고    scopus 로고
    • Spectrum of heart disease associated with murine and human GATA4 mu-tation
    • Rajagopal SK, Ma Q, Obler D, et al. Spectrum of heart disease associated with murine and human GATA4 mu-tation. J Mol Cell Cardiol 2007; 43: 677-85.
    • (2007) J Mol Cell Cardiol , vol.43 , pp. 677-685
    • Rajagopal, S.K.1    Ma, Q.2    Obler, D.3
  • 22
    • 37849053289 scopus 로고    scopus 로고
    • Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects
    • Posch MG, Perrot A, Schmitt K, et al. Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects. Am J Med Genet A 2008; 146A: 251-3.
    • (2008) Am J Med Genet A , vol.146 A , pp. 251-253
    • Posch, M.G.1    Perrot, A.2    Schmitt, K.3
  • 23
    • 56649112929 scopus 로고    scopus 로고
    • GATA4 mu-tations in 486 Chinese patients with congenital heart disease
    • Zhang W, Li X, Shen A, Jiao W, Guan X, Li Z. GATA4 mu-tations in 486 Chinese patients with congenital heart disease. Eur J Med Genet 2008; 51: 527-35.
    • (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
  • 24
    • 75549089626 scopus 로고    scopus 로고
    • Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects
    • Hamanoue H, Rahayuningsih SE, Hirahara Y, et al. Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects. Cardiol Young 2009; 19: 482-5.
    • (2009) Cardiol Young , vol.19 , pp. 482-485
    • Hamanoue, H.1    Rahayuningsih, S.E.2    Hirahara, Y.3
  • 25
    • 75549092174 scopus 로고    scopus 로고
    • GATA4 mutations in Chinese patients with congenital cardiac septal defects
    • Chen MW, Pang YS, Guo Y, et al. GATA4 mutations in Chinese patients with congenital cardiac septal defects. Pediatr Cardiol 2010; 31: 85-9.
    • (2010) Pediatr Cardiol , vol.31 , pp. 85-89
    • Chen, M.W.1    Pang, Y.S.2    Guo, Y.3
  • 26
    • 77955984188 scopus 로고    scopus 로고
    • A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect
    • Chen Y, Han ZQ, Yan WD, et al. A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect. J Thorac Cardiovasc Surg 2010; 140: 684-7.
    • (2010) J Thorac Cardiovasc Surg , vol.140 , pp. 684-687
    • Chen, Y.1    Han, Z.Q.2    Yan, W.D.3
  • 27
    • 77956454403 scopus 로고    scopus 로고
    • A novel mutation of GATA4 in a familial atrial septal defect
    • Chen Y, Mao J, Sun Y, et al. A novel mutation of GATA4 in a familial atrial septal defect. Clin Chim Acta 2010; 411: 1741-5.
    • (2010) Clin Chim Acta , vol.411 , pp. 1741-1745
    • Chen, Y.1    Mao, J.2    Sun, Y.3
  • 28
    • 77956799078 scopus 로고    scopus 로고
    • Genetic investigation in an Italian child with an unusual as-sociation of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis
    • D'Amato E, Giacopelli F, Giannattasio A, et al. Genetic investigation in an Italian child with an unusual as-sociation of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis. Diabet Med 2010; 27: 1195-200.
    • (2010) Diabet Med , vol.27 , pp. 1195-1200
    • D'Amato, E.1    Giacopelli, F.2    Giannattasio, A.3
  • 29
    • 78650347494 scopus 로고    scopus 로고
    • GATA4 mutations in 357 unrelated patients with congenital heart mal-formation
    • Butler TL, Esposito G, Blue GM, et al. GATA4 mutations in 357 unrelated patients with congenital heart mal-formation. Genet Test Mol Biomarkers 2010; 14: 797-802.
    • (2010) Genet Test Mol Biomarkers , vol.14 , pp. 797-802
    • Butler, T.L.1    Esposito, G.2    Blue, G.M.3
  • 30
    • 78650517721 scopus 로고    scopus 로고
    • Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with nonfamilial congenital heart disease
    • Peng T, Wang L, Zhou SF, Li XT. Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with nonfamilial congenital heart disease. Genetica 2010; 138: 1231-40.
    • (2010) Genetica , vol.138 , pp. 1231-1240
    • Peng, T.1    Wang, L.2    Zhou, S.F.3    Li, X.T.4
  • 31
    • 79955857476 scopus 로고    scopus 로고
    • Involvement of a novel GATA4 mutation in atrial septal defects
    • Liu XY, Wang J, Zheng JH, et al. Involvement of a novel GATA4 mutation in atrial septal defects. Int J Mol Med 2011; 28: 17-23.
    • (2011) Int J Mol Med , vol.28 , pp. 17-23
    • Liu, X.Y.1    Wang, J.2    Zheng, J.H.3
  • 32
    • 79960794040 scopus 로고    scopus 로고
    • A novel GATA4 mutation responsible for congenital ventricular septal defects
    • Wang J, Fang M, Liu XY, et al. A novel GATA4 mutation responsible for congenital ventricular septal defects. Int J Mol Med 2011; 28: 557-64.
    • (2011) Int J Mol Med , vol.28 , pp. 557-564
    • Wang, J.1    Fang, M.2    Liu, X.Y.3
  • 33
    • 0344064154 scopus 로고    scopus 로고
    • GATA-4 regulates cardiac morphogenesis through transactivation of the N-cadherin gene
    • Zhang H, Toyofuku T, Kamei J, Hori M. GATA-4 regulates cardiac morphogenesis through transactivation of the N-cadherin gene. Biochem Biophys Res Commun 2003; 312: 1033-8.
    • (2003) Biochem Biophys Res Commun , vol.312 , pp. 1033-1038
    • Zhang, H.1    Toyofuku, T.2    Kamei, J.3    Hori, M.4
  • 34
    • 0030916211 scopus 로고    scopus 로고
    • GATA4 trans-cription factor is required for ventral morphogenesis and heart tube formation
    • Kuo CT, Morrisey EE, Anandappa R, et al. GATA4 trans-cription factor is required for ventral morphogenesis and heart tube formation. Genes Dev 1997; 11: 1048-60.
    • (1997) Genes Dev , vol.11 , pp. 1048-1060
    • Kuo, C.T.1    Morrisey, E.E.2    Anandappa, R.3
  • 35
    • 0030996908 scopus 로고    scopus 로고
    • Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis
    • Molkentin JD, Lin Q, Duncan SA, Olson EN. Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis. Genes Dev 1997; 11: 1061-72.
    • (1997) Genes Dev , vol.11 , pp. 1061-1072
    • Molkentin, J.D.1    Lin, Q.2    Duncan, S.A.3    Olson, E.N.4
  • 36
    • 26244431736 scopus 로고    scopus 로고
    • GATA4 regulates the formation of multiple organs
    • Holtzinger A, Evans T. GATA4 regulates the formation of multiple organs. Development 2005; 132: 4005-14.
    • (2005) Development , vol.132 , pp. 4005-4014
    • Holtzinger, A.1    Evans, T.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.