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Volumn 28, Issue 1, 2011, Pages 17-23

Involvement of a novel GATA4 mutation in atrial septal defects

Author keywords

Atrial septal defect; Genetics; Transcription factor

Indexed keywords

AMINO ACID; TRANSCRIPTION FACTOR GATA 4;

EID: 79955857476     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.2011.638     Document Type: Article
Times cited : (36)

References (47)
  • 2
    • 33846220206 scopus 로고    scopus 로고
    • Congenital heart disease in the general population: Changing prevalence and age distribution
    • DOI 10.1161/CIRCULATIONAHA.106.627224, PII 0000301720070116000005
    • Marelli AJ, Mackie AS, Ionescu-Ittu R, Rahme E and Pilote L: Congenital heart disease in the general population: changing prevalence and age distribution. Circulation 115: 163-172, 2007. (Pubitemid 46105714)
    • (2007) Circulation , vol.115 , Issue.2 , pp. 163-172
    • Marelli, A.J.1    Mackie, A.S.2    Ionescu-Ittu, R.3    Rahme, E.4    Pilote, L.5
  • 3
    • 0034013233 scopus 로고    scopus 로고
    • Congenital Heart Surgery Nomenclature and Database Project: Atrial septal defect
    • PII S0003497599012333
    • Jacobs JP, Quintessenza JA, Burke RP and Mavroudis C: Congenital heart surgery nomenclature and database project: atrial septal defect. Ann Thorac Surg 69 (Suppl. 4): S18-S24, 2000. (Pubitemid 30259316)
    • (2000) Annals of Thoracic Surgery , vol.69 , Issue.4 SUPPL.
    • Jacobs, J.P.1    Quintessenza, J.A.2    Burke, R.P.3    Mavroudis, C.4
  • 4
    • 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
  • 5
    • 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, 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
  • 6
    • 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, 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
  • 7
    • 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, Gatson LL, Adkison LR, Angeloni SV and Wilson DB: Assignment of the transcription factor GATA4 gene to human chromosome 8 and mouse chromosome 14: Gata4 is a candidate gene for Ds (disorganization). Genomics 27: 20-26, 1995.
    • (1995) Genomics , vol.27 , pp. 20-26
    • White, R.A.1    Dowler, L.L.2    Pasztor, L.M.3    Gatson, L.L.4    Adkison, L.R.5    Angeloni, S.V.6    Wilson, D.B.7
  • 8
    • 4644358238 scopus 로고    scopus 로고
    • GATA4 is a dosage-sensitive regulator of cardiac morphogenesis
    • DOI 10.1016/j.ydbio.2004.08.008, PII S0012160604005445
    • Pu WT, Ishiwata T, Juraszek AL, Ma Q and Izumo S: GATA4 is a dosage-sensitive regulator of cardiac morphogenesis. Dev Biol 275: 235-244, 2004. (Pubitemid 39298188)
    • (2004) Developmental Biology , vol.275 , Issue.1 , pp. 235-244
    • Pu, W.T.1    Ishiwata, T.2    Juraszek, A.L.3    Ma, Q.4    Izumo, S.5
  • 15
    • 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
  • 20
    • 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
  • 23
    • 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, Tang CZ, Xie JY, Chen H and Hu DY: A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect. J Thorac Cardiovasc Surg 140: 684-687, 2010.
    • (2010) J Thorac Cardiovasc Surg , vol.140 , pp. 684-687
    • Chen, Y.1    Han, Z.Q.2    Yan, W.D.3    Tang, C.Z.4    Xie, J.Y.5    Chen, H.6    Hu, D.Y.7
  • 25
    • 77956799078 scopus 로고    scopus 로고
    • Genetic investigation in an Italian child with an unusual association 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, D'Annunzio G, Bocciardi R, Musso M, Lorini R and Ravazzolo R: Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis. Diabet Med 27: 1195-1200, 2010.
    • (2010) Diabet Med , vol.27 , pp. 1195-1200
    • D'Amato, E.1    Giacopelli, F.2    Giannattasio, A.3    D'Annunzio, G.4    Bocciardi, R.5    Musso, M.6    Lorini, R.7    Ravazzolo, R.8
  • 26
    • 77950862306 scopus 로고    scopus 로고
    • Molecular genetics of congenital atrial septal defects
    • Posch MG, Perrot A, Berger F and Ozcelik C: Molecular genetics of congenital atrial septal defects. Clin Res Cardiol 99: 137-147, 2010.
    • (2010) Clin Res Cardiol , vol.99 , pp. 137-147
    • Posch, M.G.1    Perrot, A.2    Berger, F.3    Ozcelik, C.4
  • 27
    • 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
  • 33
    • 7244238119 scopus 로고    scopus 로고
    • TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts
    • Reamon-Buettner SM and Borlak J: TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts. Hum Mutat 24: 104, 2004.
    • (2004) Hum Mutat , vol.24 , pp. 104
    • Reamon-Buettner, S.M.1    Borlak, J.2
  • 34
    • 53549098825 scopus 로고    scopus 로고
    • A novel TBX5 missense mutation (V263M) in a family with atrial septal defects and postaxial hexodactyly
    • Faria MH, Rabenhorst SH, Pereira AC and Krieger JE: A novel TBX5 missense mutation (V263M) in a family with atrial septal defects and postaxial hexodactyly. Int J Cardiol 130: 30-35, 2008.
    • (2008) Int J Cardiol , vol.130 , pp. 30-35
    • Faria, M.H.1    Rabenhorst, S.H.2    Pereira, A.C.3    Krieger, J.E.4
  • 35
    • 56649091211 scopus 로고    scopus 로고
    • T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease
    • Liu C, Shen A, Li X, Jiao W, Zhang X and Li Z: T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease. Eur J Med Genet 51: 580-587, 2008.
    • (2008) Eur J Med Genet , vol.51 , pp. 580-587
    • Liu, C.1    Shen, A.2    Li, X.3    Jiao, W.4    Zhang, X.5    Li, Z.6
  • 40
    • 78149237904 scopus 로고    scopus 로고
    • Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease
    • Stallmeyer B, Fenge H, Nowak-Göttl U and Schulze-Bahr E: Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. Clin Genet 78: 533-540, 2010.
    • (2010) Clin Genet , vol.78 , pp. 533-540
    • Stallmeyer, B.1    Fenge, H.2    Nowak-Göttl, U.3    Schulze-Bahr, E.4
  • 41
    • 44949175085 scopus 로고    scopus 로고
    • Holt-Oram syndrome and atrial fibrillation: Opening the (T)-box
    • Cerbai E and Sartiani L: Holt-Oram syndrome and atrial fibrillation: opening the (T)-box. Circ Res 102: 1304-1306, 2008.
    • (2008) Circ Res , vol.102 , pp. 1304-1306
    • Cerbai, E.1    Sartiani, L.2
  • 42
    • 0344064154 scopus 로고    scopus 로고
    • GATA-4 regulates cardiac morphogenesis through transactivation of the N-cadherin gene
    • DOI 10.1016/j.bbrc.2003.11.019
    • Zhang H, Toyofuku T, Kamei J and Hori M: GATA-4 regulates cardiac morphogenesis through transactivation of the N-cadherin gene. Biochem Biophys Res Commun 312: 1033-1038, 2003. (Pubitemid 37490919)
    • (2003) Biochemical and Biophysical Research Communications , vol.312 , Issue.4 , pp. 1033-1038
    • Zhang, H.1    Toyofuku, T.2    Kamei, J.3    Hori, M.4
  • 44
    • 0030996908 scopus 로고    scopus 로고
    • Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis
    • Molkentin JD, Lin Q, Duncan SA and Olson EN: Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis. Genes Dev 11: 1061-1072, 1997. (Pubitemid 27199884)
    • (1997) Genes and Development , vol.11 , Issue.8 , pp. 1061-1072
    • Molkentin, J.D.1    Lin, Q.2    Duncan, S.A.3    Olson, E.N.4
  • 45
    • 0034161719 scopus 로고    scopus 로고
    • Anterior endoderm is sufficient to rescue foregut apoptosis and heart tube morphogenesis in an embryo lacking retinoic acid
    • DOI 10.1006/dbio.1999.9601
    • Ghatpande S, Ghatpande A, Zile M and Evans T: Anterior endoderm is sufficient to rescue foregut apoptosis and heart tube morphogenesis in an embryo lacking retinoic acid. Dev Biol 219: 59-70, 2000. (Pubitemid 30129750)
    • (2000) Developmental Biology , vol.219 , Issue.1 , pp. 59-70
    • Ghatpande, S.1    Ghatpande, A.2    Zile, M.3    Evans, T.4
  • 46
    • 26244431736 scopus 로고    scopus 로고
    • Gata4 regulates the formation of multiple organs
    • DOI 10.1242/dev.01978
    • Holtzinger A and Evans T: GATA4 regulates the formation of multiple organs. Development 132: 4005-4014, 2005. (Pubitemid 41410262)
    • (2005) Development , vol.132 , Issue.17 , pp. 4005-4014
    • Holtzinger, A.1    Evans, T.2
  • 47
    • 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, Kerkela 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


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