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Volumn 16, Issue 1, 2015, Pages

c.620C>T mutation in GATA4 is associated with congenital heart disease in South India

Author keywords

ASD; Congenital heart disease; GATA4; Mutation; South Indian patients; TOF; VSD

Indexed keywords

GENOMIC DNA; MICRORNA; TRANSCRIPTION FACTOR GATA 4; 3' UNTRANSLATED REGION; GATA4 PROTEIN, HUMAN;

EID: 84923920296     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-015-0152-7     Document Type: Article
Times cited : (26)

References (45)
  • 1
    • 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(2):163-72.
    • (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
  • 2
    • 33745320481 scopus 로고    scopus 로고
    • Insights into the genetic basis of congenital heart disease
    • Garg V. Insights into the genetic basis of congenital heart disease. CMLS. 2006;63(10):1141-8.
    • (2006) CMLS , vol.63 , Issue.10 , pp. 1141-1148
    • Garg, V.1
  • 3
    • 33847345155 scopus 로고    scopus 로고
    • The genetics of cardiac birth defects
    • Ransom J, Srivastava D. The genetics of cardiac birth defects. Semin Cell Dev Biol. 2007;18(1):132-9.
    • (2007) Semin Cell Dev Biol , vol.18 , Issue.1 , pp. 132-139
    • Ransom, J.1    Srivastava, D.2
  • 4
    • 39749191367 scopus 로고    scopus 로고
    • The developmental genetics of congenital heart disease
    • Bruneau BG. The developmental genetics of congenital heart disease. Nature. 2008;451(7181):943-8.
    • (2008) Nature , vol.451 , Issue.7181 , pp. 943-948
    • Bruneau, B.G.1
  • 5
    • 41149125478 scopus 로고    scopus 로고
    • Genetic mechanisms controlling cardiovascular development
    • Bentham J, Bhattacharya S. Genetic mechanisms controlling cardiovascular development. Ann N Y Acad Sci. 2008;1123:10-9.
    • (2008) Ann N Y Acad Sci , vol.1123 , pp. 10-19
    • Bentham, J.1    Bhattacharya, S.2
  • 10
  • 11
    • 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, Li X. Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. Genetica. 2010;138(11-12):1231-40.
    • (2010) Genetica , vol.138 , Issue.11-12 , pp. 1231-1240
    • Peng, T.1    Wang, L.2    Zhou, S.F.3    Li, X.4
  • 15
    • 0034931034 scopus 로고    scopus 로고
    • Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation
    • Hiroi Y, Kudoh S, Monzen K, Ikeda Y, Yazaki Y, Nagai R, et al. Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation. Nat Genet. 2001;28(3):276-80.
    • (2001) Nat Genet , vol.28 , Issue.3 , pp. 276-280
    • Hiroi, Y.1    Kudoh, S.2    Monzen, K.3    Ikeda, Y.4    Yazaki, Y.5    Nagai, R.6    Komuro, I.7
  • 17
    • 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: endorsed by the American Academy of Pediatrics
    • Pierpont ME, Basson CT, Benson Jr DW, Gelb BD, Giglia TM, Goldmuntz E, et al. 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. 2007;115(23):3015-38.
    • (2007) Circulation , vol.115 , Issue.23 , pp. 3015-3038
    • Pierpont, M.E.1    Basson, C.T.2    Benson, 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
  • 18
    • 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: endorsed by the American Academy of Pediatrics
    • Jenkins KJ, Correa A, Feinstein JA, Botto L, Britt AE, Daniels SR, et al. 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. 2007;115(23):2995-3014.
    • (2007) Circulation , vol.115 , Issue.23 , pp. 2995-3014
  • 19
    • 84875235752 scopus 로고    scopus 로고
    • Prevalence of congenital heart disease at live birth: an accurate assessment by echocardiographic screening
    • Zhao QM, Ma XJ, Jia B, Huang GY. Prevalence of congenital heart disease at live birth: an accurate assessment by echocardiographic screening. Acta Paediatr. 2013;102(4):397-402.
    • (2013) Acta Paediatr , vol.102 , Issue.4 , pp. 397-402
    • Zhao, Q.M.1    Ma, X.J.2    Jia, B.3    Huang, G.Y.4
  • 22
    • 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(12):1890-900.
    • (2002) J Am Coll Cardiol , vol.39 , Issue.12 , pp. 1890-1900
    • Hoffman, J.I.1    Kaplan, S.2
  • 23
    • 84877061290 scopus 로고    scopus 로고
    • Detection of MTHFR C677T and A1298C Gene Polymorphism in Congenital Heart Disease
    • Deeparani T, Pillai MR, Elavazhagan T. Detection of MTHFR C677T and A1298C Gene Polymorphism in Congenital Heart Disease. Middle-East J Scientific Res. 2009;4(2):127-32.
    • (2009) Middle-East J Scientific Res , vol.4 , Issue.2 , pp. 127-132
    • Deeparani, T.1    Pillai, M.R.2    Elavazhagan, T.3
  • 30
    • 33747891736 scopus 로고    scopus 로고
    • An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers
    • Smith PJ, Zhang C, Wang J, Chew SL, Zhang MQ, Krainer AR. An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. Hum Mol Genet. 2006;15(16):2490-508.
    • (2006) Hum Mol Genet , vol.15 , Issue.16 , pp. 2490-2508
    • Smith, P.J.1    Zhang, C.2    Wang, J.3    Chew, S.L.4    Zhang, M.Q.5    Krainer, A.R.6
  • 31
    • 34748821761 scopus 로고    scopus 로고
    • The role of site accessibility in microRNA target recognition
    • Kertesz M, Iovino N, Unnerstall U, Gaul U, Segal E. The role of site accessibility in microRNA target recognition. Nat Genet. 2007;39(10):1278-84.
    • (2007) Nat Genet , vol.39 , Issue.10 , pp. 1278-1284
    • Kertesz, M.1    Iovino, N.2    Unnerstall, U.3    Gaul, U.4    Segal, E.5
  • 32
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: analysis and visualization of LD and haplotype maps
    • Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21(2):263-5.
    • (2005) Bioinformatics , vol.21 , Issue.2 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 33
    • 13844270527 scopus 로고    scopus 로고
    • Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation
    • Stephens M, Scheet P. Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation. Am J Hum Genet. 2005;76(3):449-62.
    • (2005) Am J Hum Genet , vol.76 , Issue.3 , pp. 449-462
    • Stephens, M.1    Scheet, P.2
  • 34
    • 84855199947 scopus 로고    scopus 로고
    • Vienna, Austria: R Foundation for Statistical Computing
    • R., Development., Core., Team. R: A language and environment for statistical computing. Vienna, Austria: R Foundation for Statistical Computing; 2011. ISBN 3-900051-07-0.
    • (2011) A language and environment for statistical computing
  • 35
    • 0034648772 scopus 로고    scopus 로고
    • A genetic blueprint for cardiac development
    • Srivastava D, Olson EN. A genetic blueprint for cardiac development. Nature. 2000;407(6801):221-6.
    • (2000) Nature , vol.407 , Issue.6801 , pp. 221-226
    • Srivastava, D.1    Olson, E.N.2
  • 36
    • 4644358238 scopus 로고    scopus 로고
    • GATA4 is a dosage-sensitive regulator of cardiac morphogenesis
    • Pu WT, Ishiwata T, Juraszek AL, Ma Q, Izumo S. GATA4 is a dosage-sensitive regulator of cardiac morphogenesis. Dev Biol. 2004;275(1):235-44.
    • (2004) Dev Biol , vol.275 , Issue.1 , pp. 235-244
    • Pu, W.T.1    Ishiwata, T.2    Juraszek, A.L.3    Ma, Q.4    Izumo, S.5
  • 37
    • 26444441866 scopus 로고    scopus 로고
    • GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart
    • Reamon-Buettner SM, Borlak J. GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart. J Med Genet. 2005;42(5):e32.
    • (2005) J Med Genet , vol.42 , Issue.5 , pp. e32
    • Reamon-Buettner, S.M.1    Borlak, J.2
  • 41
  • 42
    • 77950862306 scopus 로고    scopus 로고
    • Molecular genetics of congenital atrial septal defects
    • Posch MG, Perrot A, Berger F, Ozcelik C. Molecular genetics of congenital atrial septal defects. Clin Res Cardiol. 2010;99(3):137-47.
    • (2010) Clin Res Cardiol , vol.99 , Issue.3 , pp. 137-147
    • Posch, M.G.1    Perrot, A.2    Berger, F.3    Ozcelik, C.4
  • 43
    • 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, Borlak J. Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD). BMC Med Genet. 2007;8:38.
    • (2007) BMC Med Genet , vol.8 , pp. 38
    • Reamon-Buettner, S.M.1    Cho, S.H.2    Borlak, J.3
  • 44
    • 10644276046 scopus 로고    scopus 로고
    • 3'-Untranslated regions are important in mRNA localization and translation: lessons from selenium and metallothionein
    • Hesketh J. 3'-Untranslated regions are important in mRNA localization and translation: lessons from selenium and metallothionein. Biochem Soc Trans. 2004;32(Pt 6):990-3.
    • (2004) Biochem Soc Trans , vol.32 , pp. 990-993
    • Hesketh, J.1
  • 45
    • 0034101197 scopus 로고    scopus 로고
    • The 3' untranslated region of messenger RNA: A molecular 'hotspot' for pathology?
    • Conne B, Stutz A, Vassalli JD. The 3' untranslated region of messenger RNA: A molecular 'hotspot' for pathology? Nat Med. 2000;6(6):637-41.
    • (2000) Nat Med , vol.6 , Issue.6 , pp. 637-641
    • Conne, B.1    Stutz, A.2    Vassalli, J.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.