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Volumn 534, Issue 2, 2014, Pages 320-323

A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis

Author keywords

ASD; Atrial septal defect; Congenital heart disease; GATA4; Transcription factor

Indexed keywords

TRANSCRIPTION FACTOR GATA 4;

EID: 84890431971     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.10.028     Document Type: Article
Times cited : (53)

References (28)
  • 1
    • 78650347494 scopus 로고    scopus 로고
    • GATA4 mutations in 357 unrelated patients with congenital heart malformation
    • Butler T.L., et al. GATA4 mutations in 357 unrelated patients with congenital heart malformation. Genet. Test. Mol. Biomarkers 2010, 14:797-802.
    • (2010) Genet. Test. Mol. Biomarkers , vol.14 , pp. 797-802
    • Butler, T.L.1
  • 2
    • 77955984188 scopus 로고    scopus 로고
    • A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect
    • Chen Y., et al. A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect. J. Thorac. Cardiovasc. Surg. 2010, 140:684-687.
    • (2010) J. Thorac. Cardiovasc. Surg. , vol.140 , pp. 684-687
    • Chen, Y.1
  • 3
    • 77956454403 scopus 로고    scopus 로고
    • A novel mutation of GATA4 in a familial atrial septal defect
    • Chen Y., et al. A novel mutation of GATA4 in a familial atrial septal defect. Clin. Chim. Acta 2010, 411:1741-1745.
    • (2010) Clin. Chim. Acta , vol.411 , pp. 1741-1745
    • Chen, Y.1
  • 4
    • 84874230096 scopus 로고    scopus 로고
    • Genetics of congenital heart disease: the glass half empty
    • Fahed A.C., Gelb B.D., Seidman J.G., Seidman C.E. Genetics of congenital heart disease: the glass half empty. Circ. Res. 2013, 112:707-720.
    • (2013) Circ. Res. , vol.112 , pp. 707-720
    • Fahed, A.C.1    Gelb, B.D.2    Seidman, J.G.3    Seidman, C.E.4
  • 5
    • 0043267988 scopus 로고    scopus 로고
    • GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
    • Garg V., et al. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 2003, 424:443-447.
    • (2003) Nature , vol.424 , pp. 443-447
    • Garg, V.1
  • 6
    • 0037134945 scopus 로고    scopus 로고
    • The incidence of congenital heart disease
    • Hoffman J.I., Kaplan S. The incidence of congenital heart disease. J. Am. Coll. Cardiol. 2002, 39:1890-1900.
    • (2002) J. Am. Coll. Cardiol. , vol.39 , pp. 1890-1900
    • Hoffman, J.I.1    Kaplan, S.2
  • 7
    • 0028910107 scopus 로고
    • Identification of a GATA motif in the cardiac alpha-myosin heavy-chain-encoding gene and isolation of a human GATA-4 cDNA
    • Huang W.Y., Cukerman E., Liew C.C. Identification of a GATA motif in the cardiac alpha-myosin heavy-chain-encoding gene and isolation of a human GATA-4 cDNA. Gene 1995, 155:219-223.
    • (1995) Gene , vol.155 , pp. 219-223
    • Huang, W.Y.1    Cukerman, E.2    Liew, C.C.3
  • 8
    • 0027440699 scopus 로고
    • Congenital heart disease in adolescents and adults. Natural and postoperative history across age groups
    • Kaplan S. Congenital heart disease in adolescents and adults. Natural and postoperative history across age groups. Cardiol. Clin. 1993, 11:543-556.
    • (1993) Cardiol. Clin. , vol.11 , pp. 543-556
    • Kaplan, S.1
  • 9
    • 0027299922 scopus 로고
    • DNA-binding specificities of the GATA transcription factor family
    • Ko L.J., Engel J.D. DNA-binding specificities of the GATA transcription factor family. Mol. Cell. Biol. 1993, 13:4011-4022.
    • (1993) Mol. Cell. Biol. , vol.13 , pp. 4011-4022
    • Ko, L.J.1    Engel, J.D.2
  • 11
    • 84863681671 scopus 로고    scopus 로고
    • Congenital heart disease-causing Gata4 mutation displays functional deficits in vivo
    • Misra C., et al. Congenital heart disease-causing Gata4 mutation displays functional deficits in vivo. PLoS Genet. 2012, 8:e1002690.
    • (2012) PLoS Genet. , vol.8
    • Misra, C.1
  • 12
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: predicting amino acid changes that affect protein function
    • Ng P.C., Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003, 31:3812-3814.
    • (2003) Nucleic Acids Res. , vol.31 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 13
    • 16544371915 scopus 로고    scopus 로고
    • A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family
    • Okubo A., 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
  • 14
    • 34548297904 scopus 로고    scopus 로고
    • Analysis of the signals and mechanisms mediating nuclear trafficking of GATA-4. Loss of DNA binding is associated with localization in intranuclear speckles
    • Philips A.S., Kwok J.C., Chong B.H. Analysis of the signals and mechanisms mediating nuclear trafficking of GATA-4. Loss of DNA binding is associated with localization in intranuclear speckles. J. Biol. Chem. 2007, 282:24915-24927.
    • (2007) J. Biol. Chem. , vol.282 , pp. 24915-24927
    • Philips, A.S.1    Kwok, J.C.2    Chong, B.H.3
  • 15
    • 37849053289 scopus 로고    scopus 로고
    • Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects
    • Posch M.G., 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:251-253.
    • (2008) Am. J. Med. Genet. A , vol.146 A , pp. 251-253
    • Posch, M.G.1
  • 17
    • 35048838310 scopus 로고    scopus 로고
    • Spectrum of heart disease associated with murine and human GATA4 mutation
    • Rajagopal S.K., et al. Spectrum of heart disease associated with murine and human GATA4 mutation. J. Mol. Cell. Cardiol. 2007, 43:677-685.
    • (2007) J. Mol. Cell. Cardiol. , vol.43 , pp. 677-685
    • Rajagopal, S.K.1
  • 18
    • 26444441866 scopus 로고    scopus 로고
    • GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart
    • Reamon-Buettner S.M., Borlak J. GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart. J. Med. Genet. 2005, 42:e32.
    • (2005) J. Med. Genet. , vol.42
    • Reamon-Buettner, S.M.1    Borlak, J.2
  • 19
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • Schwarz J.M., Rodelsperger C., Schuelke M., Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat. Methods 2010, 7:575-576.
    • (2010) Nat. Methods , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rodelsperger, C.2    Schuelke, M.3    Seelow, D.4
  • 20
    • 0034191958 scopus 로고    scopus 로고
    • Towards a structural basis of human non-synonymous single nucleotide polymorphisms
    • Sunyaev S., Ramensky V., Bork P. Towards a structural basis of human non-synonymous single nucleotide polymorphisms. Trends Genet. 2000, 16:198-200.
    • (2000) Trends Genet. , vol.16 , pp. 198-200
    • Sunyaev, S.1    Ramensky, V.2    Bork, P.3
  • 21
    • 84867652053 scopus 로고    scopus 로고
    • Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle
    • Tan Z.P., Huang C., Xu Z.B., Yang J.F., Yang Y.F. Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle. Clin. Genet. 2012, 82:466-471.
    • (2012) Clin. Genet. , vol.82 , pp. 466-471
    • Tan, Z.P.1    Huang, C.2    Xu, Z.B.3    Yang, J.F.4    Yang, Y.F.5
  • 24
    • 84876526906 scopus 로고    scopus 로고
    • Identification of functional mutations in GATA4 in patients with congenital heart disease
    • Wang E., et al. Identification of functional mutations in GATA4 in patients with congenital heart disease. PLoS One 2013, 8:e62138.
    • (2013) PLoS One , vol.8
    • Wang, E.1
  • 25
    • 77957601615 scopus 로고    scopus 로고
    • Genetic factors in non-syndromic congenital heart malformations
    • Wessels M.W., Willems P.J. Genetic factors in non-syndromic congenital heart malformations. Clin. Genet. 2010, 78:103-123.
    • (2010) Clin. Genet. , vol.78 , pp. 103-123
    • Wessels, M.W.1    Willems, P.J.2
  • 26
    • 84873409524 scopus 로고    scopus 로고
    • Analyses of GATA4, NKX2.5, and TFAP2B genes in subjects from southern China with sporadic congenital heart disease
    • Xiong F., et al. Analyses of GATA4, NKX2.5, and TFAP2B genes in subjects from southern China with sporadic congenital heart disease. Cardiovasc. Pathol. 2013, 22:141-145.
    • (2013) Cardiovasc. Pathol. , vol.22 , pp. 141-145
    • Xiong, F.1
  • 27
    • 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., Li Z. GATA4 mutations in 486 Chinese patients with congenital heart disease. Eur. J. Med. Genet. 2008, 51:527-535.
    • (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
  • 28
    • 84875235752 scopus 로고    scopus 로고
    • Prevalence of congenital heart disease at live birth: an accurate assessment by echocardiographic screening
    • Zhao Q.M., Ma X.J., Jia B., Huang G.Y. Prevalence of congenital heart disease at live birth: an accurate assessment by echocardiographic screening. Acta Paediatr. 2013, 102:397-402.
    • (2013) Acta Paediatr. , vol.102 , pp. 397-402
    • Zhao, Q.M.1    Ma, X.J.2    Jia, B.3    Huang, G.Y.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.