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Volumn 188, Issue 3, 2006, Pages 213-220

Bridging the gap between anatomy and molecular genetics for an improved understanding of congenital heart disease

Author keywords

Anatomy; Congenital heart disease; Molecular genetics

Indexed keywords

FORMALDEHYDE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR GATA 4;

EID: 33646548928     PISSN: 09409602     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.aanat.2005.10.007     Document Type: Article
Times cited : (19)

References (60)
  • 1
    • 0242642844 scopus 로고    scopus 로고
    • Decreasing the burden of congenital heart anomalies: An epidemiologic evaluation of risk factors and survival
    • Botto, L.D., Correa, A., 2003. Decreasing the burden of congenital heart anomalies: an epidemiologic evaluation of risk factors and survival. Prog. Pediatr. Cardiol. 18, 111-121.
    • (2003) Prog. Pediatr. Cardiol. , vol.18 , pp. 111-121
    • Botto, L.D.1    Correa, A.2
  • 2
    • 0037155776 scopus 로고    scopus 로고
    • Transcriptional regulation of vertebrate cardiac morphogenesis
    • Bruneau, B.G., 2002. Transcriptional regulation of vertebrate cardiac morphogenesis. Circ. Res. 90, 509-519.
    • (2002) Circ. Res. , vol.90 , pp. 509-519
    • Bruneau, B.G.1
  • 5
    • 85047688217 scopus 로고    scopus 로고
    • Classification of a collection of malformed human hearts: Practical experience in the use of sequential segmental analysis
    • Craatz, S., Kunzel, E., Spanel-Borowski, K., 2002. Classification of a collection of malformed human hearts: practical experience in the use of sequential segmental analysis. Pediatr. Cardiol. 23, 483-490.
    • (2002) Pediatr. Cardiol. , vol.23 , pp. 483-490
    • Craatz, S.1    Kunzel, E.2    Spanel-Borowski, K.3
  • 6
    • 0038460640 scopus 로고    scopus 로고
    • Right-sided aortic arch and tetralogy of Fallot in humans - A morphological study of 10 cases
    • Craatz, S., Kunzel, E., Spanel-Borowski, K., 2003. Right-sided aortic arch and tetralogy of Fallot in humans - a morphological study of 10 cases. Cardiovasc. Pathol. 12, 226-232.
    • (2003) Cardiovasc. Pathol. , vol.12 , pp. 226-232
    • Craatz, S.1    Kunzel, E.2    Spanel-Borowski, K.3
  • 7
    • 0037025326 scopus 로고    scopus 로고
    • The transcription factors GATA4 and dHAND physically interact to synergistically activate cardiac gene expression through a p300-dependent mechanism
    • Dai, Y.S., Cserjesi, P., Markham, B.E., Molkentin, J.D., 2002. The transcription factors GATA4 and dHAND physically interact to synergistically activate cardiac gene expression through a p300-dependent mechanism. J. Biol. Chem. 277, 24390-24398.
    • (2002) J. Biol. Chem. , vol.277 , pp. 24390-24398
    • Dai, Y.S.1    Cserjesi, P.2    Markham, B.E.3    Molkentin, J.D.4
  • 8
    • 0037125957 scopus 로고    scopus 로고
    • Tetralogy of Fallot and other congenital heart defects in Hey2 mutant mice
    • Donovan, J., Kordylewska, A., Jan, Y.N., Utset, M.F., 2002. Tetralogy of Fallot and other congenital heart defects in Hey2 mutant mice. Curr. Biol. 12, 1605-1610.
    • (2002) Curr. Biol. , vol.12 , pp. 1605-1610
    • Donovan, J.1    Kordylewska, A.2    Jan, Y.N.3    Utset, M.F.4
  • 9
    • 0031805289 scopus 로고    scopus 로고
    • Combinatorial interactions regulating cardiac transcription
    • Durocher, D., Nemer, M., 1998. Combinatorial interactions regulating cardiac transcription. Dev. Genet. 22, 250-262.
    • (1998) Dev. Genet. , vol.22 , pp. 250-262
    • Durocher, D.1    Nemer, M.2
  • 11
    • 0037342752 scopus 로고    scopus 로고
    • Somatic gene mutation and human disease other than cancer
    • Erickson, R.P., 2003. Somatic gene mutation and human disease other than cancer. Mutat. Res. 543, 125-136.
    • (2003) Mutat. Res. , vol.543 , pp. 125-136
    • Erickson, R.P.1
  • 12
    • 4344673276 scopus 로고    scopus 로고
    • Phenotypic variability in Hey2 -/- mice and absence of HEY2 mutations in patients with congenital heart defects or Alagille syndrome
    • Fischer, A., Klamt, B., Schumacher, N., Glaeser, C., Hansmann, I., Fenge, H., Gessler, M., 2004. Phenotypic variability in Hey2 -/- mice and absence of HEY2 mutations in patients with congenital heart defects or Alagille syndrome. Mamm. Genome 15, 711-716.
    • (2004) Mamm. Genome , vol.15 , pp. 711-716
    • Fischer, A.1    Klamt, B.2    Schumacher, N.3    Glaeser, C.4    Hansmann, I.5    Fenge, H.6    Gessler, M.7
  • 13
    • 0038640316 scopus 로고    scopus 로고
    • The role of Pitx2 during cardiac development. Linking left-right signaling and congenital heart diseases
    • Franco, D., Campione, M., 2003. The role of Pitx2 during cardiac development. Linking left-right signaling and congenital heart diseases. Trends. Cardiovasc. Med. 13, 157-163.
    • (2003) Trends. Cardiovasc. Med. , vol.13 , pp. 157-163
    • Franco, D.1    Campione, M.2
  • 16
    • 1242342762 scopus 로고    scopus 로고
    • Development gone awry: Congenital heart disease
    • Gruber, P.J., Epstein, J.A., 2004. Development gone awry: congenital heart disease. Circ. Res. 94, 273-283.
    • (2004) Circ. Res. , vol.94 , pp. 273-283
    • Gruber, P.J.1    Epstein, J.A.2
  • 17
    • 0036301401 scopus 로고    scopus 로고
    • Patterning the vertebrate heart
    • Harvey, R.P., 2002. Patterning the vertebrate heart. Nat. Rev. Genet. 3, 544-556.
    • (2002) Nat. Rev. Genet. , vol.3 , pp. 544-556
    • Harvey, R.P.1
  • 22
    • 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., Komuro, I., 2001. Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation. Nat. Genet. 28, 276-280.
    • (2001) Nat. Genet. , vol.28 , pp. 276-280
    • Hiroi, Y.1    Kudoh, S.2    Monzen, K.3    Ikeda, Y.4    Yazaki, Y.5    Nagai, R.6    Komuro, I.7
  • 24
    • 0037134945 scopus 로고    scopus 로고
    • The incidence of congenital heart disease
    • Hoffman, J.I., 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
  • 26
    • 0032910597 scopus 로고    scopus 로고
    • Tbx5 is essential for heart development
    • Horb, M.E., Thomsen, G.H., 1999. Tbx5 is essential for heart development. Development 126, 1739-1751.
    • (1999) Development , vol.126 , pp. 1739-1751
    • Horb, M.E.1    Thomsen, G.H.2
  • 27
    • 25444528571 scopus 로고    scopus 로고
    • Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system
    • Inga, A., Reamon-Buettner, S.M., Borlak, J., Resnick, M.A., 2005. Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system. Hum. Mol. Genet. 14, 1965-1975.
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 1965-1975
    • Inga, A.1    Reamon-Buettner, S.M.2    Borlak, J.3    Resnick, M.A.4
  • 29
    • 4444223413 scopus 로고    scopus 로고
    • Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies
    • Kasahara, H., Benson, D.W., 2004. Biochemical analyses of eight NKX2.5 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
  • 30
    • 0031844382 scopus 로고    scopus 로고
    • The cardiac tissue-restricted homeobox protein Csx/Nkx2.5 physically associates with the zinc finger protein GATA4 and cooperatively activates atrial natriuretic factor gene expression
    • Lee, Y., Shioi, T., Kasahara, H., Jobe, S.M., Wiese, R.J., Markham, B.E., Izumo, S., 1998. The cardiac tissue-restricted homeobox protein Csx/Nkx2.5 physically associates with the zinc finger protein GATA4 and cooperatively activates atrial natriuretic factor gene expression. Mol. Cell. Biol. 18, 3120-3129.
    • (1998) Mol. Cell. Biol. , vol.18 , pp. 3120-3129
    • Lee, Y.1    Shioi, T.2    Kasahara, H.3    Jobe, S.M.4    Wiese, R.J.5    Markham, B.E.6    Izumo, S.7
  • 32
    • 0034671733 scopus 로고    scopus 로고
    • The zinc finger-containing transcription factors GATA-4, -5, and -6. Ubiquitously expressed regulators of tissue-specific gene expression
    • Molkentin, J.D., 2000. The zinc finger-containing transcription factors GATA-4, -5, and -6. Ubiquitously expressed regulators of tissue-specific gene expression. J. Biol. Chem. 275, 38949-38952.
    • (2000) J. Biol. Chem. , vol.275 , pp. 38949-38952
    • Molkentin, J.D.1
  • 33
    • 2442648749 scopus 로고    scopus 로고
    • TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed
    • Mori, A.D., Bruneau, B.G., 2004. TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed. Curr. Opin. Cardiol. 19, 211-215.
    • (2004) Curr. Opin. Cardiol. , vol.19 , pp. 211-215
    • Mori, A.D.1    Bruneau, B.G.2
  • 34
    • 0034595311 scopus 로고    scopus 로고
    • GATA-dependent recruitment of MEF2 proteins to target promoters
    • Morin, S., Charron, F., Robitaille, L., Nemer, M., 2000. GATA-dependent recruitment of MEF2 proteins to target promoters. EMBO J 19, 2046-2055.
    • (2000) EMBO J , vol.19 , pp. 2046-2055
    • Morin, S.1    Charron, F.2    Robitaille, L.3    Nemer, M.4
  • 35
    • 25444493136 scopus 로고    scopus 로고
    • MEF2-dependent recruitment of the HAND1 transcription factor results in synergistic activation of target promoters
    • Morin, S., Pozzulo, G., Robitaille, L., Cross, J., Nemer, M., 2005. MEF2-dependent recruitment of the HAND1 transcription factor results in synergistic activation of target promoters. J Biol. Chem. 280, 32272-32278.
    • (2005) J Biol. Chem. , vol.280 , pp. 32272-32278
    • Morin, S.1    Pozzulo, G.2    Robitaille, L.3    Cross, J.4    Nemer, M.5
  • 36
    • 26444605527 scopus 로고    scopus 로고
    • Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)
    • Muncke, N., Niesler, B., Roeth, R., Schon, K., Rudiger, H.J., Goldmuntz, E., Goodship, J., Rappold, G., 2005. Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA). BMC. Med. Genet. 6, 20.
    • (2005) BMC. Med. Genet. , vol.6 , pp. 20
    • Muncke, N.1    Niesler, B.2    Roeth, R.3    Schon, K.4    Rudiger, H.J.5    Goldmuntz, E.6    Goodship, J.7    Rappold, G.8
  • 37
    • 0035682738 scopus 로고    scopus 로고
    • Regulation of heart development and function through combinatorial interactions of transcription factors
    • Nemer, G., Nemer, M., 2001. Regulation of heart development and function through combinatorial interactions of transcription factors. Ann. Med. 33, 604-610.
    • (2001) Ann. Med. , vol.33 , pp. 604-610
    • Nemer, G.1    Nemer, M.2
  • 40
    • 3142566471 scopus 로고    scopus 로고
    • GATA transcription factors in the developing and adult heart
    • Pikkarainen, S., Tokola, H., Kerkela, R., Ruskoaho, H., 2004. GATA transcription factors in the developing and adult heart. Cardiovasc. Res. 63, 196-207.
    • (2004) Cardiovasc. Res. , vol.63 , pp. 196-207
    • Pikkarainen, S.1    Tokola, H.2    Kerkela, R.3    Ruskoaho, H.4
  • 41
    • 4644358238 scopus 로고    scopus 로고
    • GATA4 is a dosage-sensitive regulator of cardiac morphogenesis
    • Pu, W.T., Ishiwata, T., Juraszek, A.L., 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
  • 42
    • 4644298618 scopus 로고    scopus 로고
    • Somatic mutations - Not just for cancer anymore
    • Puck, J.M., Straus, S.E., 2004. Somatic mutations - not just for cancer anymore. N. Engl. J. Med. 351, 1388-1390.
    • (2004) N. Engl. J. Med. , vol.351 , pp. 1388-1390
    • Puck, J.M.1    Straus, S.E.2
  • 43
    • 4444298928 scopus 로고    scopus 로고
    • Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease
    • Reamon-Buettner, S.M., Borlak, J., 2004a. Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease. J. Med. Genet. 41, 684-690.
    • (2004) J. Med. Genet. , vol.41 , pp. 684-690
    • Reamon-Buettner, S.M.1    Borlak, J.2
  • 44
    • 7244238119 scopus 로고    scopus 로고
    • TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts
    • Reamon-Buettner, S.M., Borlak, J., 2004b. TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts. Hum. Mutat. 24, 104.
    • (2004) Hum. Mutat. , vol.24 , pp. 104
    • Reamon-Buettner, S.M.1    Borlak, J.2
  • 45
    • 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., 2005a. GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart. J. Med. Genet. 42, e32.
    • (2005) J. Med. Genet. , vol.42
    • Reamon-Buettner, S.M.1    Borlak, J.2
  • 46
    • 33646556867 scopus 로고    scopus 로고
    • Genetic analysis of cardiac specific transcription factors reveals novel insights into the molecular causes of congential heart disease
    • Reamon-Buettner, S.M., Borlak, J., 2005b. Genetic analysis of cardiac specific transcription factors reveals novel insights into the molecular causes of congential heart disease. Future Cardiol. 1, 355-361.
    • (2005) Future Cardiol. , vol.1 , pp. 355-361
    • Reamon-Buettner, S.M.1    Borlak, J.2
  • 47
    • 34548094528 scopus 로고    scopus 로고
    • HEY2 mutations in malformed hearts
    • Reamon-Buettner, S.M., Borlak, J., 2005c. HEY2 mutations in malformed hearts. Hum. Mutat. 27, 118.
    • (2005) Hum. Mutat. , vol.27 , pp. 118
    • Reamon-Buettner, S.M.1    Borlak, J.2
  • 49
    • 0037058935 scopus 로고    scopus 로고
    • Ventricular septal defect and cardiomyopathy in mice lacking the transcription factor CHF1/Hey2
    • Sakata, Y., Kamei, C.N., Nakagami, H., Bronson, R., Liao, J.K., Chin, M.T., 2002. Ventricular septal defect and cardiomyopathy in mice lacking the transcription factor CHF1/Hey2. Proc. Natl. Acad. Sci. USA 99, 16197-16202.
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 16197-16202
    • Sakata, Y.1    Kamei, C.N.2    Nakagami, H.3    Bronson, R.4    Liao, J.K.5    Chin, M.T.6
  • 52
    • 0037067697 scopus 로고    scopus 로고
    • Combinatorial expression of GATA4, Nkx2-5, and serum response factor directs early cardiac gene activity
    • Sepulveda, J.L., Vlahopoulos, S., Iyer, D., Belaguli, N., Schwartz, R.J., 2002. Combinatorial expression of GATA4, Nkx2-5, and serum response factor directs early cardiac gene activity. J. Biol. Chem. 277, 25775-25782.
    • (2002) J. Biol. Chem. , vol.277 , pp. 25775-25782
    • Sepulveda, J.L.1    Vlahopoulos, S.2    Iyer, D.3    Belaguli, N.4    Schwartz, R.J.5
  • 57
    • 12344326485 scopus 로고    scopus 로고
    • Cryptic causation of human disease: Reading between the (germ) lines
    • Weiss, K.M., 2005. Cryptic causation of human disease: reading between the (germ) lines. Trends Genet. 21, 82-88.
    • (2005) Trends Genet. , vol.21 , pp. 82-88
    • Weiss, K.M.1
  • 59
    • 0034629325 scopus 로고    scopus 로고
    • Gridlock, an HLH gene required for assembly of the aorta in zebrafish
    • Zhong, T.P., Rosenberg, M., Mohideen, M.A., Weinstein, B., Fishman, M.C., 2000. Gridlock, an HLH gene required for assembly of the aorta in zebrafish. Science 287, 1820-1824.
    • (2000) Science , vol.287 , pp. 1820-1824
    • Zhong, T.P.1    Rosenberg, M.2    Mohideen, M.A.3    Weinstein, B.4    Fishman, M.C.5
  • 60
    • 0035829517 scopus 로고    scopus 로고
    • Gridlock signalling pathway fashions the first embryonic artery
    • Zhong, T.P., Childs, S., Leu, J.P, Fishman, M.C., 2001. Gridlock signalling pathway fashions the first embryonic artery. Nature 414, 216-220.
    • (2001) Nature , vol.414 , pp. 216-220
    • Zhong, T.P.1    Childs, S.2    Leu, J.P.3    Fishman, M.C.4


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