메뉴 건너뛰기




Volumn 143, Issue 8, 2007, Pages 817-823

Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease

Author keywords

Cardiovascular malformations; Congenital heart defects; GATA4; Genetics; NKX2.5; Transcription factor

Indexed keywords

AMINO ACID; MUTANT PROTEIN; TRANSCRIPTION FACTOR GATA 4;

EID: 34147136738     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31652     Document Type: Article
Times cited : (60)

References (31)
  • 1
    • 33746574841 scopus 로고    scopus 로고
    • American Heart Association, Dallas: American Heart Association, p
    • American Heart Association. 2006. Heart Disease and Stroke Statistics Update. 2006. Dallas: American Heart Association, p 20.
    • (2006) Heart Disease and Stroke Statistics Update. 2006 , pp. 20
  • 4
    • 0037795222 scopus 로고    scopus 로고
    • Bosi G, Garani G, Scorrano M, Calzolari E. IMER Working Party. 2003. Temporal variability in birth prevalence of congenital heart defects as recorded by a general birth defects registry. J Pediatr 142:690-698.
    • Bosi G, Garani G, Scorrano M, Calzolari E. IMER Working Party. 2003. Temporal variability in birth prevalence of congenital heart defects as recorded by a general birth defects registry. J Pediatr 142:690-698.
  • 6
    • 19544391975 scopus 로고    scopus 로고
    • A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups
    • Capon F, Allen MH, Ameen M, Burden AD, Tillman D, Barker JN, Trembath RC. 2004. A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups. Hum Mol Genet 13:2361-2368.
    • (2004) Hum Mol Genet , vol.13 , pp. 2361-2368
    • Capon, F.1    Allen, M.H.2    Ameen, M.3    Burden, A.D.4    Tillman, D.5    Barker, J.N.6    Trembath, R.C.7
  • 8
    • 13944265645 scopus 로고    scopus 로고
    • Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
    • Cohen J, Pertsemlidis A, Kotowski IK, Graham R, Garcia CK, Hobbs HH. 2005. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat Genet 37:161-165.
    • (2005) Nat Genet , vol.37 , pp. 161-165
    • Cohen, J.1    Pertsemlidis, A.2    Kotowski, I.K.3    Graham, R.4    Garcia, C.K.5    Hobbs, H.H.6
  • 11
    • 33745320481 scopus 로고    scopus 로고
    • Insights into the genetic basis of congenital heart disease
    • Garg V. 2006. Insights into the genetic basis of congenital heart disease. Cell Mol Life Sci 63:1141-1148.
    • (2006) Cell Mol Life Sci , vol.63 , pp. 1141-1148
    • Garg, V.1
  • 12
    • 0035923555 scopus 로고    scopus 로고
    • N KX2. 5 mutations in patients with tetralogy of fallot
    • Goldmuntz E, Geiger E, Benson DW. 2001. N KX2. 5 mutations in patients with tetralogy of fallot. Circulation 104:2565-2568.
    • (2001) Circulation , vol.104 , pp. 2565-2568
    • Goldmuntz, E.1    Geiger, E.2    Benson, D.W.3
  • 14
    • 0037134945 scopus 로고    scopus 로고
    • The incidence of congenital heart disease
    • Hoffman JI, Kaplan S. 2002. The incidence of congenital heart disease. J Am Coll Cardiol 39:1890-1900.
    • (2002) J Am Coll Cardiol , vol.39 , pp. 1890-1900
    • Hoffman, J.I.1    Kaplan, S.2
  • 15
    • 4444223413 scopus 로고    scopus 로고
    • Biochemical analyses of eight N KX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies
    • Kasahara H, Benson DW. 2004. Biochemical analyses of eight N KX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies. Cardiovasc Res 64:40-51.
    • (2004) Cardiovasc Res , vol.64 , pp. 40-51
    • Kasahara, H.1    Benson, D.W.2
  • 16
    • 0033912859 scopus 로고    scopus 로고
    • Loss of function and inhibitory effects of human CSX/N KX2.5 homeoprotein mutations associated with congenital heart disease
    • Kasahara H, Lee B, Schott JJ, Benson DW, Seidman JG, Seidman CE, Izumo S. 2000. Loss of function and inhibitory effects of human CSX/N KX2.5 homeoprotein mutations associated with congenital heart disease. J Clin Invest 106:299-308.
    • (2000) J Clin Invest , vol.106 , pp. 299-308
    • Kasahara, H.1    Lee, B.2    Schott, J.J.3    Benson, D.W.4    Seidman, J.G.5    Seidman, C.E.6    Izumo, S.7
  • 20
    • 0036337915 scopus 로고    scopus 로고
    • A genomic view of alternative splicing
    • Modrek B, Lee C. 2002. A genomic view of alternative splicing. Nat Genet 30:13-19.
    • (2002) Nat Genet , vol.30 , pp. 13-19
    • Modrek, B.1    Lee, C.2
  • 21
    • 0038617729 scopus 로고    scopus 로고
    • Alternative splicing in the human, mouse and rat genomes is associated with an increased frequency of exon creation and/or loss
    • Modrek B, Lee CJ. 2003. Alternative splicing in the human, mouse and rat genomes is associated with an increased frequency of exon creation and/or loss. Nat Genet 34:177-180.
    • (2003) Nat Genet , vol.34 , pp. 177-180
    • Modrek, B.1    Lee, C.J.2
  • 22
    • 0028283186 scopus 로고
    • Transcription factor GATA-4 regulates cardiac muscle-specific expression of the alpha-myosin heavy-chain gene
    • Molkentin JD, Kalvakolanu DV, Markham BE. 1994. Transcription factor GATA-4 regulates cardiac muscle-specific expression of the alpha-myosin heavy-chain gene. Mol Cell Biol 14:4947-4957.
    • (1994) Mol Cell Biol , vol.14 , pp. 4947-4957
    • Molkentin, J.D.1    Kalvakolanu, D.V.2    Markham, B.E.3
  • 23
    • 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. 1997. Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis. Genes Dev 11:1061-1072.
    • (1997) Genes Dev , vol.11 , pp. 1061-1072
    • Molkentin, J.D.1    Lin, Q.2    Duncan, S.A.3    Olson, E.N.4
  • 28
    • 4644358238 scopus 로고    scopus 로고
    • GATA4 is a dosage-sensitive regulator of cardiac morphogenesis
    • Pu WT, Ishiwata T, Juraszek AL, Ma Q, Izumo S. 2004. GATA4 is a dosage-sensitive regulator of cardiac morphogenesis. Dev Biol 275:235-244.
    • (2004) Dev Biol , vol.275 , pp. 235-244
    • Pu, W.T.1    Ishiwata, T.2    Juraszek, A.L.3    Ma, Q.4    Izumo, S.5
  • 31
    • 0028871928 scopus 로고
    • Involvement of multiple cis elements in basal- and alpha-adrenergic agonist-inducible atrial natriuretic factor transcription. Roles for serum response elements and an SP-1-like element
    • Sprenkle AB, Murray SF, Glembotski CC. 1995. Involvement of multiple cis elements in basal- and alpha-adrenergic agonist-inducible atrial natriuretic factor transcription. Roles for serum response elements and an SP-1-like element. Circ Res 77:1060-1069.
    • (1995) Circ Res , vol.77 , pp. 1060-1069
    • Sprenkle, A.B.1    Murray, S.F.2    Glembotski, C.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.