메뉴 건너뛰기




Volumn 20, Issue 4, 2010, Pages 124-128

Genetics of Congenital Heart Defects: A Candidate Gene Approach

Author keywords

[No Author keywords available]

Indexed keywords

ADAM 19 PROTEIN; ALK2 PROTEIN; APC PROTEIN; BONE MORPHOGENETIC PROTEIN RECEPTOR; BONE MORPHOGENETIC PROTEIN RECEPTOR 1A; EPIDERMAL GROWTH FACTOR RECEPTOR; EPIDERMAL GROWTH FACTOR RECEPTOR 2; EPIDERMAL GROWTH FACTOR RECEPTOR 3; FOXP1 PROTEIN; HYALURONIC ACID; PROTEIN; TRANSCRIPTION FACTOR GATA 4; TRANSCRIPTION FACTOR NKX2.5; TUMOR NECROSIS FACTOR ALPHA CONVERTING ENZYME; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE GLUCOSE DEHYDROGENASE;

EID: 79951539210     PISSN: 10501738     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tcm.2010.10.003     Document Type: Review
Times cited : (11)

References (41)
  • 1
    • 4444320851 scopus 로고    scopus 로고
    • Heart valve development: endothelial cell signaling and differentiation
    • Armstrong E.J., Bischoff J. Heart valve development: endothelial cell signaling and differentiation. Circ Res 2004, 95:459-470.
    • (2004) Circ Res , vol.95 , pp. 459-470
    • Armstrong, E.J.1    Bischoff, J.2
  • 2
    • 0035289344 scopus 로고    scopus 로고
    • Racial and temporal variations in the prevalence of heart defects
    • Botto L.D., Correa A., Erickson J.D. Racial and temporal variations in the prevalence of heart defects. Pediatrics 2001, 107:E32.
    • (2001) Pediatrics , vol.107
    • Botto, L.D.1    Correa, A.2    Erickson, J.D.3
  • 3
    • 33847691604 scopus 로고    scopus 로고
    • Hyaluronan-CD44 interaction with neural Wiskott-Aldrich syndrome protein (N-WASP) promotes actin polymerization and ErbB2 activation leading to β-catenin nuclear translocation, transcriptional up-regulation, and cell migration in ovarian tumor cells
    • Bourguignon L.Y., Peyrollier K., Gilad E., Brightman A. Hyaluronan-CD44 interaction with neural Wiskott-Aldrich syndrome protein (N-WASP) promotes actin polymerization and ErbB2 activation leading to β-catenin nuclear translocation, transcriptional up-regulation, and cell migration in ovarian tumor cells. J Biol Chem 2007, 282:1265-1280.
    • (2007) J Biol Chem , vol.282 , pp. 1265-1280
    • Bourguignon, L.Y.1    Peyrollier, K.2    Gilad, E.3    Brightman, A.4
  • 4
    • 59149085705 scopus 로고    scopus 로고
    • Hyaluronan-mediated CD44 interaction with p300 and SIRT1 regulates β-catenin signaling and NFkappaB-specific transcription activity leading to MDR1 and Bcl-xL gene expression and chemoresistance in breast tumor cells
    • Bourguignon L.Y., Xia W., Wong G. Hyaluronan-mediated CD44 interaction with p300 and SIRT1 regulates β-catenin signaling and NFkappaB-specific transcription activity leading to MDR1 and Bcl-xL gene expression and chemoresistance in breast tumor cells. J Biol Chem 2009, 284:2657-2671.
    • (2009) J Biol Chem , vol.284 , pp. 2657-2671
    • Bourguignon, L.Y.1    Xia, W.2    Wong, G.3
  • 5
    • 0036344533 scopus 로고    scopus 로고
    • Heart-valve mesenchyme formation is dependent on hyaluronan-augmented activation of ErbB2-ErbB3 receptors
    • Camenisch T.D., Schroeder J.A., Bradley J., et al. Heart-valve mesenchyme formation is dependent on hyaluronan-augmented activation of ErbB2-ErbB3 receptors. Nat Med 2002, 8:850-855.
    • (2002) Nat Med , vol.8 , pp. 850-855
    • Camenisch, T.D.1    Schroeder, J.A.2    Bradley, J.3
  • 6
    • 0033847008 scopus 로고    scopus 로고
    • Disruption of hyaluronan synthase-2 abrogates normal cardiac morphogenesis and hyaluronan-mediated transformation of epithelium to mesenchyme
    • Camenisch T.D., Spicer A.P., Brehm-Gibson T., et al. Disruption of hyaluronan synthase-2 abrogates normal cardiac morphogenesis and hyaluronan-mediated transformation of epithelium to mesenchyme. J Clin Invest 2000, 106:349-360.
    • (2000) J Clin Invest , vol.106 , pp. 349-360
    • Camenisch, T.D.1    Spicer, A.P.2    Brehm-Gibson, T.3
  • 7
    • 0034091647 scopus 로고    scopus 로고
    • Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis
    • Chen B., Bronson R.T., Klaman L.D., et al. Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis. Nat Genet 2000, 24:296-299.
    • (2000) Nat Genet , vol.24 , pp. 296-299
    • Chen, B.1    Bronson, R.T.2    Klaman, L.D.3
  • 8
    • 70149088960 scopus 로고    scopus 로고
    • Heart valve development: regulatory networks in development and disease
    • Combs M.D., Yutzey K.E. Heart valve development: regulatory networks in development and disease. Circ Res 2009, 105:408-421.
    • (2009) Circ Res , vol.105 , pp. 408-421
    • Combs, M.D.1    Yutzey, K.E.2
  • 9
    • 1642473157 scopus 로고    scopus 로고
    • The transforming growth factor-β superfamily of receptors
    • De Caestecker M. The transforming growth factor-β superfamily of receptors. Cytokine Growth Factor Rev 2004, 15:1-11.
    • (2004) Cytokine Growth Factor Rev , vol.15 , pp. 1-11
    • De Caestecker, M.1
  • 10
    • 0031454062 scopus 로고    scopus 로고
    • ErbB3 is required for normal cerebellar and cardiac development: a comparison with ErbB2-and heregulin-deficient mice
    • Erickson S.L., O'Shea K.S., Ghaboosi N., et al. ErbB3 is required for normal cerebellar and cardiac development: a comparison with ErbB2-and heregulin-deficient mice. Development 1997, 124:4999-5011.
    • (1997) Development , vol.124 , pp. 4999-5011
    • Erickson, S.L.1    O'Shea, K.S.2    Ghaboosi, N.3
  • 11
    • 0043267988 scopus 로고    scopus 로고
    • GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
    • Garg V., Kathiriya I.S., Barnes R., 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    Kathiriya, I.S.2    Barnes, R.3
  • 12
    • 1242342762 scopus 로고    scopus 로고
    • Development gone awry: congenital heart disease
    • Gruber P.J., Epstein J.A. Development gone awry: congenital heart disease. Circ Res 2004, 94:273-283.
    • (2004) Circ Res , vol.94 , pp. 273-283
    • Gruber, P.J.1    Epstein, J.A.2
  • 13
    • 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
  • 14
    • 22144454605 scopus 로고    scopus 로고
    • Evaluation of the contributions of ADAMs 9, 12, 15, 17, and 19 to heart development and ectodomain shedding of neuregulins β1 and β2
    • Horiuchi K., Zhou H.M., Kelly K., et al. Evaluation of the contributions of ADAMs 9, 12, 15, 17, and 19 to heart development and ectodomain shedding of neuregulins β1 and β2. Dev Biol 2005, 283:459-471.
    • (2005) Dev Biol , vol.283 , pp. 459-471
    • Horiuchi, K.1    Zhou, H.M.2    Kelly, K.3
  • 15
    • 0142136734 scopus 로고    scopus 로고
    • The Wnt/β-catenin pathway regulates cardiac valve formation
    • Hurlstone A.F., Haramis A.P., Wienholds E., et al. The Wnt/β-catenin pathway regulates cardiac valve formation. Nature 2003, 425:633-637.
    • (2003) Nature , vol.425 , pp. 633-637
    • Hurlstone, A.F.1    Haramis, A.P.2    Wienholds, E.3
  • 16
    • 0037453001 scopus 로고    scopus 로고
    • Heparin-binding EGF-like growth factor and ErbB signaling is essential for heart function
    • Iwamoto R., Yamazaki S., Asakura M., et al. Heparin-binding EGF-like growth factor and ErbB signaling is essential for heart function. Proc Natl Acad Sci U S A 2003, 100:3221-3226.
    • (2003) Proc Natl Acad Sci U S A , vol.100 , pp. 3221-3226
    • Iwamoto, R.1    Yamazaki, S.2    Asakura, M.3
  • 17
    • 0037507267 scopus 로고    scopus 로고
    • Defective valvulogenesis in HB-EGF and TACE-null mice is associated with aberrant BMP signaling
    • Jackson L.F., Qiu T.H., Sunnarborg S.W., et al. Defective valvulogenesis in HB-EGF and TACE-null mice is associated with aberrant BMP signaling. Embo J 2003, 22:2704-2716.
    • (2003) Embo J , vol.22 , pp. 2704-2716
    • Jackson, L.F.1    Qiu, T.H.2    Sunnarborg, S.W.3
  • 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 K.J., Correa A., Feinstein J.A., 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, 115:2995-3014.
    • (2007) Circulation , vol.115 , pp. 2995-3014
    • Jenkins, K.J.1    Correa, A.2    Feinstein, J.A.3
  • 19
    • 0035879140 scopus 로고    scopus 로고
    • Bmp6 and Bmp7 are required for cushion formation and septation in the developing mouse heart
    • Kim R.Y., Robertson E.J., Solloway M.J. Bmp6 and Bmp7 are required for cushion formation and septation in the developing mouse heart. Dev Biol 2001, 235:449-466.
    • (2001) Dev Biol , vol.235 , pp. 449-466
    • Kim, R.Y.1    Robertson, E.J.2    Solloway, M.J.3
  • 20
    • 34547738523 scopus 로고    scopus 로고
    • Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy
    • Kirk E.P., Sunde M., Costa M.W., et al. Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. Am J Hum Genet 2007, 81:280-291.
    • (2007) Am J Hum Genet , vol.81 , pp. 280-291
    • Kirk, E.P.1    Sunde, M.2    Costa, M.W.3
  • 21
    • 10744227726 scopus 로고    scopus 로고
    • Essential roles of Meltrin β (ADAM19) in heart development
    • Kurohara K., Komatsu K., Kurisaki T., et al. Essential roles of Meltrin β (ADAM19) in heart development. Dev Biol 2004, 267:14-28.
    • (2004) Dev Biol , vol.267 , pp. 14-28
    • Kurohara, K.1    Komatsu, K.2    Kurisaki, T.3
  • 22
    • 1842481058 scopus 로고    scopus 로고
    • Bmp4 signaling is required for outflow-tract septation and branchial-arch artery remodeling
    • Liu W., Selever J., Wang D., et al. Bmp4 signaling is required for outflow-tract septation and branchial-arch artery remodeling. Proc Natl Acad Sci U S A 2004, 101:4489-4494.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 4489-4494
    • Liu, W.1    Selever, J.2    Wang, D.3
  • 23
    • 77649126524 scopus 로고    scopus 로고
    • Heart disease and stroke statistics-2010 update: a report from the AmericanHeart Association
    • Lloyd-Jones D., Adams R.J., Brown T.M., et al. Heart disease and stroke statistics-2010 update: a report from the AmericanHeart Association. Circulation 2009, 121:e46-e215.
    • (2009) Circulation , vol.121
    • Lloyd-Jones, D.1    Adams, R.J.2    Brown, T.M.3
  • 24
    • 0035863208 scopus 로고    scopus 로고
    • Epidermal growth factor signaling via Ras controls the Smad transcriptional co-repressor TGIF
    • Lo R.S., Wotton D., Massague J. Epidermal growth factor signaling via Ras controls the Smad transcriptional co-repressor TGIF. Embo J 2001, 20:128-136.
    • (2001) Embo J , vol.20 , pp. 128-136
    • Lo, R.S.1    Wotton, D.2    Massague, J.3
  • 25
    • 31144440253 scopus 로고    scopus 로고
    • Bmp2 is essential for cardiac cushion epithelial-mesenchymal transition and myocardial patterning
    • Ma L., Lu M.F., Schwartz R.J., Martin J.F. Bmp2 is essential for cardiac cushion epithelial-mesenchymal transition and myocardial patterning. Development 2005, 132:5601-5611.
    • (2005) Development , vol.132 , pp. 5601-5611
    • Ma, L.1    Lu, M.F.2    Schwartz, R.J.3    Martin, J.F.4
  • 26
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologies-the next generation
    • Metzker M.L. Sequencing technologies-the next generation. Nat Rev Genet 2009, 11:31-46.
    • (2009) Nat Rev Genet , vol.11 , pp. 31-46
    • Metzker, M.L.1
  • 27
    • 0023125717 scopus 로고
    • Myocardial specificity for initiating endothelial-mesenchymal cell transition in embryonic chick heart correlates with a particulate distribution of fibronectin
    • Mjaatvedt C.H., Lepera R.C., Markwald R.R. Myocardial specificity for initiating endothelial-mesenchymal cell transition in embryonic chick heart correlates with a particulate distribution of fibronectin. Dev Biol 1987, 119:59-67.
    • (1987) Dev Biol , vol.119 , pp. 59-67
    • Mjaatvedt, C.H.1    Lepera, R.C.2    Markwald, R.R.3
  • 28
    • 16844380290 scopus 로고    scopus 로고
    • Cell biology of cardiac cushion development
    • Person A.D., Klewer S.E., Runyan R.B. Cell biology of cardiac cushion development. Int Rev Cytol 2005, 243:287-335.
    • (2005) Int Rev Cytol , vol.243 , pp. 287-335
    • Person, A.D.1    Klewer, S.E.2    Runyan, R.B.3
  • 29
    • 33750367434 scopus 로고    scopus 로고
    • Development of heart valves requires Gata4 expression in endothelial-derived cells
    • Rivera-Feliciano J., Lee K.H., Kong S.W., et al. Development of heart valves requires Gata4 expression in endothelial-derived cells. Development 2006, 133:3607-3618.
    • (2006) Development , vol.133 , pp. 3607-3618
    • Rivera-Feliciano, J.1    Lee, K.H.2    Kong, S.W.3
  • 30
    • 33745266407 scopus 로고    scopus 로고
    • Bmp2 instructs cardiac progenitors to form the heart-valve-inducing field
    • Rivera-Feliciano J., Tabin C.J. Bmp2 instructs cardiac progenitors to form the heart-valve-inducing field. Dev Biol 2006, 295:580-588.
    • (2006) Dev Biol , vol.295 , pp. 580-588
    • Rivera-Feliciano, J.1    Tabin, C.J.2
  • 31
    • 0020693374 scopus 로고
    • Invasion of mesenchyme into three-dimensional collagen gels: a regional and temporal analysis of interaction in embryonic heart tissue
    • Runyan R.B., Markwald R.R. Invasion of mesenchyme into three-dimensional collagen gels: a regional and temporal analysis of interaction in embryonic heart tissue. Dev Biol 1983, 95:108-114.
    • (1983) Dev Biol , vol.95 , pp. 108-114
    • Runyan, R.B.1    Markwald, R.R.2
  • 32
    • 0032479573 scopus 로고    scopus 로고
    • Congenital heart disease caused by mutations in the transcription factor NKX2-5
    • Schott J.J., Benson D.W., Basson C.T., et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 1998, 281:108-111.
    • (1998) Science , vol.281 , pp. 108-111
    • Schott, J.J.1    Benson, D.W.2    Basson, C.T.3
  • 33
    • 0042368795 scopus 로고    scopus 로고
    • Form and function of developing heart valves: coordination by extracellular matrix and growth factor signaling
    • Schroeder J.A., Jackson L.F., Lee D.C., Camenisch T.D. Form and function of developing heart valves: coordination by extracellular matrix and growth factor signaling. J Mol Med 2003, 81:392-403.
    • (2003) J Mol Med , vol.81 , pp. 392-403
    • Schroeder, J.A.1    Jackson, L.F.2    Lee, D.C.3    Camenisch, T.D.4
  • 34
    • 73249139527 scopus 로고    scopus 로고
    • T-box 2, a mediator of Bmp-Smad signaling, induced hyaluronan synthase 2 and Tgfβ2 expression and endocardial cushion formation
    • Shirai M., Imanaka-Yoshida K., Schneider M.D., et al. T-box 2, a mediator of Bmp-Smad signaling, induced hyaluronan synthase 2 and Tgfβ2 expression and endocardial cushion formation. Proc Natl Acad Sci U S A 2009, 106:18604-18609.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 18604-18609
    • Shirai, M.1    Imanaka-Yoshida, K.2    Schneider, M.D.3
  • 35
    • 67649519781 scopus 로고    scopus 로고
    • Dominant-negative ALK2 allele associates with congenital heart defects
    • Smith K.A., Joziasse I.C., Chocron S., et al. Dominant-negative ALK2 allele associates with congenital heart defects. Circulation 2009, 119:3062-3069.
    • (2009) Circulation , vol.119 , pp. 3062-3069
    • Smith, K.A.1    Joziasse, I.C.2    Chocron, S.3
  • 36
    • 33845656038 scopus 로고    scopus 로고
    • Essential functions of Alk3 during AV cushion morphogenesis in mouse embryonic hearts
    • Song L., Fassler R., Mishina Y., et al. Essential functions of Alk3 during AV cushion morphogenesis in mouse embryonic hearts. Dev Biol 2007, 301:276-286.
    • (2007) Dev Biol , vol.301 , pp. 276-286
    • Song, L.1    Fassler, R.2    Mishina, Y.3
  • 37
    • 0037066757 scopus 로고    scopus 로고
    • Tumor necrosis factor-α converting enzyme (TACE) regulates epidermal growth factor receptor ligand availability
    • Sunnarborg S.W., Hinkle C.L., Stevenson M., et al. Tumor necrosis factor-α converting enzyme (TACE) regulates epidermal growth factor receptor ligand availability. J Biol Chem 2002, 277:12838-12845.
    • (2002) J Biol Chem , vol.277 , pp. 12838-12845
    • Sunnarborg, S.W.1    Hinkle, C.L.2    Stevenson, M.3
  • 38
    • 0035979742 scopus 로고    scopus 로고
    • UDP-glucose dehydrogenase required for cardiac valve formation in zebrafish
    • Walsh E.C., Stainier D.Y. UDP-glucose dehydrogenase required for cardiac valve formation in zebrafish. Science 2001, 293:1670-1673.
    • (2001) Science , vol.293 , pp. 1670-1673
    • Walsh, E.C.1    Stainier, D.Y.2
  • 39
    • 25844500726 scopus 로고    scopus 로고
    • Atrioventricular cushion transformation is mediated by ALK2 in the developing mouse heart
    • Wang J., Sridurongrit S., Dudas M., et al. Atrioventricular cushion transformation is mediated by ALK2 in the developing mouse heart. Dev Biol 2005, 286:299-310.
    • (2005) Dev Biol , vol.286 , pp. 299-310
    • Wang, J.1    Sridurongrit, S.2    Dudas, M.3
  • 40
    • 0034030487 scopus 로고    scopus 로고
    • Clinical significance of the bicuspid aortic valve
    • Ward C. Clinical significance of the bicuspid aortic valve. Heart 2000, 83:81-85.
    • (2000) Heart , vol.83 , pp. 81-85
    • Ward, C.1
  • 41
    • 10744223754 scopus 로고    scopus 로고
    • Essential role for ADAM19 in cardiovascular morphogenesis
    • Zhou H.M., Weskamp G., Chesneau V., et al. Essential role for ADAM19 in cardiovascular morphogenesis. Mol Cell Biol 2004, 24:96-104.
    • (2004) Mol Cell Biol , vol.24 , pp. 96-104
    • Zhou, H.M.1    Weskamp, G.2    Chesneau, V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.