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Volumn 33, Issue 5, 2014, Pages 1227-1235

Somatic GATA5 mutations in sporadic tetralogy of Fallot

Author keywords

Congenital heart disease; GATA5; Genetics; Reporter gene analysis; Tetralogy of Fallot; Transcription factor

Indexed keywords

GENOMIC DNA; TRANSCRIPTION FACTOR GATA 5;

EID: 84899519445     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.2014.1674     Document Type: Article
Times cited : (26)

References (74)
  • 3
    • 77952424795 scopus 로고    scopus 로고
    • Tetralogy of Fallot: Yesterday and today
    • Starr JP: Tetralogy of Fallot: yesterday and today. World J Surg 34: 658-668, 2010.
    • (2010) World J Surg , vol.34 , pp. 658-668
    • Starr, J.P.1
  • 4
    • 79960179710 scopus 로고    scopus 로고
    • Exercise performance and quality of life is more impaired in Eisenmenger syndrome than in complex cyanotic congenital heart disease with pulmonary stenosis
    • Müller J, Hess J and Hager A: Exercise performance and quality of life is more impaired in Eisenmenger syndrome than in complex cyanotic congenital heart disease with pulmonary stenosis. Int J Cardiol 150: 177-181, 2011.
    • (2011) Int J Cardiol , vol.150 , pp. 177-181
    • Müller, J.1    Hess, J.2    Hager, A.3
  • 5
    • 84855950631 scopus 로고    scopus 로고
    • Minor symptoms of depression in patients with congenital heart disease have a larger impact on quality of life than limited exercise capacity
    • Müller J, Hess J and Hager A: Minor symptoms of depression in patients with congenital heart disease have a larger impact on quality of life than limited exercise capacity. Int J Cardiol 154: 265-269, 2012.
    • (2012) Int J Cardiol , vol.154 , pp. 265-269
    • Müller, J.1    Hess, J.2    Hager, A.3
  • 6
    • 80052682672 scopus 로고    scopus 로고
    • Impact of congenital heart disease on fetal brain development and injury
    • Donofrio MT, Duplessis AJ and Limperopoulos C: Impact of congenital heart disease on fetal brain development and injury. Curr Opin Pediatr 23: 502-511, 2011.
    • (2011) Curr Opin Pediatr , vol.23 , pp. 502-511
    • Donofrio, M.T.1    Duplessis, A.J.2    Limperopoulos, C.3
  • 7
    • 84863084294 scopus 로고    scopus 로고
    • Congenital heart disease and pulmonary hypertension
    • Gupta V, Tonelli AR and Krasuski RA: Congenital heart disease and pulmonary hypertension. Heart Fail Clin 8: 427-445, 2012.
    • (2012) Heart Fail Clin , vol.8 , pp. 427-445
    • Gupta, V.1    Tonelli, A.R.2    Krasuski, R.A.3
  • 8
    • 80054773482 scopus 로고    scopus 로고
    • Infective endocarditis in congenital heart disease
    • Knirsch W and Nadal D: Infective endocarditis in congenital heart disease. Eur J Pediatr 170: 1111-1127, 2011.
    • (2011) Eur J Pediatr , vol.170 , pp. 1111-1127
    • Knirsch, W.1    Nadal, D.2
  • 9
    • 0038667790 scopus 로고    scopus 로고
    • Congenital heart disease: The original heart failure syndrome
    • DOI 10.1016/S0195-668X(03)00005-8
    • Bolger AP, Coats AJ and Gatzoulis MA: Congenital heart disease: the original heart failure syndrome. Eur Heart J 24: 970-976, 2003. (Pubitemid 36559991)
    • (2003) European Heart Journal , vol.24 , Issue.10 , pp. 970-976
    • Bolger, A.P.1    Coats, A.J.S.2    Gatzoulis, M.A.3
  • 10
    • 84862691754 scopus 로고    scopus 로고
    • Sudden cardiac death and malignant arrhythmias: The scope of the problem in adult congenital heart patients
    • Perry JC: Sudden cardiac death and malignant arrhythmias: the scope of the problem in adult congenital heart patients. Pediatr Cardiol 33: 484-490, 2012.
    • (2012) Pediatr Cardiol , vol.33 , pp. 484-490
    • Perry, J.C.1
  • 11
    • 84867390249 scopus 로고    scopus 로고
    • Congenital heart disease: Current knowledge about causes and inheritance
    • Blue GM, Kirk EP, Sholler GF, Harvey RP and Winlaw DS: Congenital heart disease: current knowledge about causes and inheritance. Med J Aust 197: 155-159, 2012.
    • (2012) Med J Aust , vol.197 , pp. 155-159
    • Blue, G.M.1    Kirk, E.P.2    Sholler, G.F.3    Harvey, R.P.4    Winlaw, D.S.5
  • 12
    • 84858770543 scopus 로고    scopus 로고
    • Transcription factor pathways and congenital heart disease
    • McCulley DJ and Black B: Transcription factor pathways and congenital heart disease. Curr Top Dev Biol 100: 253-277, 2012.
    • (2012) Curr Top Dev Biol , vol.100 , pp. 253-277
    • McCulley, D.J.1    Black, B.2
  • 13
    • 39749191367 scopus 로고    scopus 로고
    • The developmental genetics of congenital heart disease
    • Bruneau BG: The developmental genetics of congenital heart disease. Nature 451: 943-948, 2008.
    • (2008) Nature , vol.451 , pp. 943-948
    • Bruneau, B.G.1
  • 15
    • 33749361499 scopus 로고    scopus 로고
    • Gene regulatory networks in the evolution and develop ment of the heart
    • Olson EN: Gene regulatory networks in the evolution and develop ment of the heart. Science 313: 1922-1927, 2006.
    • (2006) Science , vol.313 , pp. 1922-1927
    • Olson, E.N.1
  • 16
    • 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
  • 17
    • 77954763028 scopus 로고    scopus 로고
    • Examining the cardiac NK-2 genes in early heart development
    • Bartlett H, Veenstra GJ and Weeks DL: Examining the cardiac NK-2 genes in early heart development. Pediatr Cardiol 31: 335-341, 2010.
    • (2010) Pediatr Cardiol , vol.31 , pp. 335-341
    • Bartlett, H.1    Veenstra, G.J.2    Weeks, D.L.3
  • 19
    • 78049442656 scopus 로고    scopus 로고
    • NKX2-5: An update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD)
    • Reamon-Buettner SM and Borlak J: NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD). Hum Mutat 31: 1185-1194, 2010.
    • (2010) Hum Mutat , vol.31 , pp. 1185-1194
    • Reamon-Buettner, S.M.1    Borlak, J.2
  • 20
    • 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
  • 24
    • 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
  • 26
    • 84876145089 scopus 로고    scopus 로고
    • A novel NKX2.5 loss-of-function mutation responsible for familial atrial fibrillation
    • Huang RT, Xue S, Xu YJ, Zhou M and Yang YQ: A novel NKX2.5 loss-of-function mutation responsible for familial atrial fibrillation. Int J Mol Med 31: 1119-1126, 2013.
    • (2013) Int J Mol Med , vol.31 , pp. 1119-1126
    • Huang, R.T.1    Xue, S.2    Xu, Y.J.3    Zhou, M.4    Yang, Y.Q.5
  • 28
    • 84879295774 scopus 로고    scopus 로고
    • Prevalence and spectrum of Nkx2.5 mutations associated with idiopathic atrial fibrillation
    • Sao Paulo
    • Xie WH, Chang C, Xu YJ, Li RG, Qu XK, Fang WY, Liu X and Yang YQ: Prevalence and spectrum of Nkx2.5 mutations associated with idiopathic atrial fibrillation. Clinics (Sao Paulo) 68: 777-784, 2013.
    • (2013) Clinics , vol.68 , pp. 777-784
    • Xie, W.H.1    Chang, C.2    Xu, Y.J.3    Li, R.G.4    Qu, X.K.5    Fang, W.Y.6    Liu, X.7    Yang, Y.Q.8
  • 30
    • 78650517721 scopus 로고    scopus 로고
    • Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease
    • Peng T, Wang L, Zhou SF and Li X: Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. Genetica 138: 1231-1240, 2010.
    • (2010) Genetica , vol.138 , pp. 1231-1240
    • Peng, T.1    Wang, L.2    Zhou, S.F.3    Li, X.4
  • 39
    • 84868654770 scopus 로고    scopus 로고
    • Mutation spectrum of the GATA4 gene in patients with idiopathic atrial fibrillation
    • Wang J, Sun YM and Yang YQ: Mutation spectrum of the GATA4 gene in patients with idiopathic atrial fibrillation. Mol Biol Rep 39: 8127-8135, 2012.
    • (2012) Mol Biol Rep , vol.39 , pp. 8127-8135
    • Wang, J.1    Sun, Y.M.2    Yang, Y.Q.3
  • 43
    • 84879503436 scopus 로고    scopus 로고
    • GATA5 loss-of-function mutation responsible for the conge nital ventriculoseptal defect
    • Wei D, Bao H, Zhou N, Zheng GF, Liu XY and Yang YQ: GATA5 loss-of-function mutation responsible for the conge nital ventriculoseptal defect. Pediatr Cardiol 34: 504-511, 2013.
    • (2013) Pediatr Cardiol , vol.34 , pp. 504-511
    • Wei, D.1    Bao, H.2    Zhou, N.3    Zheng, G.F.4    Liu, X.Y.5    Yang, Y.Q.6
  • 48
    • 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
  • 51
    • 84860539464 scopus 로고    scopus 로고
    • A novel GATA6 mutation associated with congenital ventricular septal defect
    • Zheng GF, Wei D, Zhao H, Zhou N, Yang YQ and Liu XY: A novel GATA6 mutation associated with congenital ventricular septal defect. Int J Mol Med 29: 1065-1071, 2012.
    • (2012) Int J Mol Med , vol.29 , pp. 1065-1071
    • Zheng, G.F.1    Wei, D.2    Zhao, H.3    Zhou, N.4    Yang, Y.Q.5    Liu, X.Y.6
  • 52
    • 84862777261 scopus 로고    scopus 로고
    • Prevalence and spectrum of GATA6 mutations associated with familial atrial fibrillation
    • Yang YQ, Wang XH, Tan HW, Jiang WF, Fang WY and Liu X: Prevalence and spectrum of GATA6 mutations associated with familial atrial fibrillation. Int J Cardiol 155: 494-496, 2012.
    • (2012) Int J Cardiol , vol.155 , pp. 494-496
    • Yang, Y.Q.1    Wang, X.H.2    Tan, H.W.3    Jiang, W.F.4    Fang, W.Y.5    Liu, X.6
  • 53
    • 84866520748 scopus 로고    scopus 로고
    • Novel GATA6 loss-of-function mutation responsible for familial atrial fibrillation
    • Li J, Liu WD, Yang ZL and Yang YQ: Novel GATA6 loss-of-function mutation responsible for familial atrial fibrillation. Int J Mol Med 30: 783-790, 2012.
    • (2012) Int J Mol Med , vol.30 , pp. 783-790
    • Li, J.1    Liu, W.D.2    Yang, Z.L.3    Yang, Y.Q.4
  • 55
    • 84879460959 scopus 로고    scopus 로고
    • First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities
    • Bui PH, Dorrani N, Wong D, Perens G, Dipple KM and Quintero-Rivera F: First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities. Am J Med Genet A 161A: 1773-1778, 2013.
    • (2013) Am J Med Genet A , vol.161 A , pp. 1773-1778
    • Bui, P.H.1    Dorrani, N.2    Wong, D.3    Perens, G.4    Dipple, K.M.5    Quintero-Rivera, F.6
  • 56
    • 2442648749 scopus 로고    scopus 로고
    • TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed
    • DOI 10.1097/00001573-200405000-00004
    • Mori AD and Bruneau BG: TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed. Curr Opin Cardiol 19: 211-215, 2004. (Pubitemid 38657439)
    • (2004) Current Opinion in Cardiology , vol.19 , Issue.3 , pp. 211-215
    • Mori, A.D.1    Bruneau, B.G.2
  • 57
    • 84871703447 scopus 로고    scopus 로고
    • Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation
    • Gripp KW, Hopkins E, Jenny K, Thacker D and Salvin J: Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation. Am J Med Genet A 161A: 114-119, 2013.
    • (2013) Am J Med Genet A , vol.161 A , pp. 114-119
    • Gripp, K.W.1    Hopkins, E.2    Jenny, K.3    Thacker, D.4    Salvin, J.5
  • 59
    • 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
  • 60
    • 34547137690 scopus 로고    scopus 로고
    • Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD)
    • Reamon-Buettner SM, Cho SH and Borlak J: Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD). BMC Med Genet 8: 38, 2007.
    • (2007) BMC Med Genet , vol.8 , pp. 38
    • Reamon-Buettner, S.M.1    Cho, S.H.2    Borlak, J.3
  • 61
    • 84455195810 scopus 로고    scopus 로고
    • Mutational screening of affected cardiac tissues and peripheral blood cells identified novel somatic mutations in GATA4 in patients with ventricular septal defect
    • Cheng C, Lin Y, Yang F, Wang W, Wu C, Qin J, Shao X and Zhou L: Mutational screening of affected cardiac tissues and peripheral blood cells identified novel somatic mutations in GATA4 in patients with ventricular septal defect. J Biomed Res 25: 425-430, 2011.
    • (2011) J Biomed Res , vol.25 , pp. 425-430
    • Cheng, C.1    Lin, Y.2    Yang, F.3    Wang, W.4    Wu, C.5    Qin, J.6    Shao, X.7    Zhou, L.8
  • 62
    • 84873174654 scopus 로고    scopus 로고
    • Somatic mutations in the GATA6 gene underlie sporadic tetralogy of Fallot
    • Huang RT, Xue S, Xu YJ and Yang YQ: Somatic mutations in the GATA6 gene underlie sporadic tetralogy of Fallot. Int J Mol Med 31: 515-518, 2013.
    • (2013) Int J Mol Med , vol.31 , pp. 515-518
    • Huang, R.T.1    Xue, S.2    Xu, Y.J.3    Yang, Y.Q.4
  • 64
    • 4444298928 scopus 로고    scopus 로고
    • Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease
    • DOI 10.1136/jmg.2003.017483
    • Reamon-Buettner SM and Borlak J: Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease. J Med Genet 41: 684-690, 2004. (Pubitemid 39208609)
    • (2004) Journal of Medical Genetics , vol.41 , Issue.9 , pp. 684-690
    • Reamon-Buettner, S.M.1    Borlak, J.2
  • 67
    • 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
  • 68
    • 80052218291 scopus 로고    scopus 로고
    • Investigation of somatic NKX2-5, GATA4 and HAND1 mutations in patients with tetralogy of Fallot
    • Wang J, Lu Y, Chen H, Yin M, Yu T and Fu Q: Investigation of somatic NKX2-5, GATA4 and HAND1 mutations in patients with tetralogy of Fallot. Pathology 43: 322-326, 2011.
    • (2011) Pathology , vol.43 , pp. 322-326
    • Wang, J.1    Lu, Y.2    Chen, H.3    Yin, M.4    Yu, T.5    Fu, Q.6
  • 69
    • 79956329337 scopus 로고    scopus 로고
    • Somatic mosaicism in healthy human tissues
    • De S: Somatic mosaicism in healthy human tissues. Trends Genet 27: 217-223, 2011.
    • (2011) Trends Genet , vol.27 , pp. 217-223
    • De, S.1
  • 71
    • 0032888787 scopus 로고    scopus 로고
    • Functional analysis and chromosomal mapping of Gata5, a gene encoding a zinc finger DNA-binding protein
    • DOI 10.1007/s003359901146
    • Nemer G, Qureshi ST, Malo D and Nemer M: Functional analysis and chromosomal mapping of Gata5, a gene encoding a zinc finger DNA-binding protein. Mamm Genome 10: 993-999, 1999. (Pubitemid 29470941)
    • (1999) Mammalian Genome , vol.10 , Issue.10 , pp. 993-999
    • Nemer, G.1    Qureshi, S.T.2    Malo, D.3    Nemer, M.4
  • 72
    • 50549100087 scopus 로고    scopus 로고
    • GATA4 and GATA5 are essential for heart and liver development in Xenopus embryos
    • Haworth KE, Kotecha S, Mohun TJ and Latinkic BV: GATA4 and GATA5 are essential for heart and liver development in Xenopus embryos. BMC Dev Biol 8: 74, 2008.
    • (2008) BMC Dev Biol , vol.8 , pp. 74
    • Haworth, K.E.1    Kotecha, S.2    Mohun, T.J.3    Latinkic, B.V.4
  • 73
    • 12344288042 scopus 로고    scopus 로고
    • Using the zebrafish model to study GATA transcription factors
    • DOI 10.1016/j.semcdb.2004.10.004, PII S1084952104001004, Protein Synthesis in Health and Disease
    • Heicklen-Klein A, McReynolds LJ and Evans T: Using the zebrafish model to study GATA transcription factors. Semin Cell Dev Biol 16: 95-106, 2005. (Pubitemid 40126880)
    • (2005) Seminars in Cell and Developmental Biology , vol.16 , Issue.1 , pp. 95-106
    • Heicklen-Klein, A.1    McReynolds, L.J.2    Evans, T.3
  • 74
    • 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


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