메뉴 건너뛰기




Volumn 78, Issue 8, 2014, Pages 1801-1807

Etiology of valvular heart disease - Genetic and developmental origins

Author keywords

Aortic valve calcification; Bicuspid aortic valve; Heart valve development; Mitral valve prolapse; Valvular heart disease

Indexed keywords

EMBRYOLOGY; GENETICS; HEART VALVE; HEART VALVE DISEASES; HUMAN; METABOLISM; SIGNAL TRANSDUCTION;

EID: 84904965491     PISSN: 13469843     EISSN: 13474820     Source Type: Journal    
DOI: 10.1253/circj.CJ-14-0510     Document Type: Review
Times cited : (43)

References (77)
  • 1
    • 84872054233 scopus 로고    scopus 로고
    • Executive Summary: Heart disease and stroke statistics-2013 update: A report from the American Heart Association
    • Go AS, Mozaffarian D, Roger VL, Benjamin EJ, Berry JD, Borden WB, et al. Executive Summary: Heart disease and stroke statistics-2013 update: A report from the American Heart Association. Circulation 2013; 127: 143-152.
    • (2013) Circulation , vol.127 , pp. 143-152
    • Go, A.S.1    Mozaffarian, D.2    Roger, V.L.3    Benjamin, E.J.4    Berry, J.D.5    Borden, W.B.6
  • 4
    • 84871693870 scopus 로고    scopus 로고
    • Triggers for surgical referral in degenerative mitral valve regurgitation
    • Itagaki S, Adams DH, Anyanwu AC. Triggers for surgical referral in degenerative mitral valve regurgitation. Circ J 2013; 77: 28-34.
    • (2013) Circ J , vol.77 , pp. 28-34
    • Itagaki, S.1    Adams, D.H.2    Anyanwu, A.C.3
  • 5
    • 84873872175 scopus 로고    scopus 로고
    • Early experiences of transcatheter aortic valve replacement in Japan
    • Maeda K, Kuratani T, Mizote I, Shimamura K, Takeda Y, Torikai K, et al. Early experiences of transcatheter aortic valve replacement in Japan. Circ J 2013; 77: 359-362.
    • (2013) Circ J , vol.77 , pp. 359-362
    • Maeda, K.1    Kuratani, T.2    Mizote, I.3    Shimamura, K.4    Takeda, Y.5    Torikai, K.6
  • 6
    • 80054937214 scopus 로고    scopus 로고
    • Calcific aortic valve disease: Not simply a degenerative process: A review and agenda for research from the National Heart and Lung and Blood Institute Aortic Stenosis Working Group. Executive summary: Calcific aortic valve disease-2011 update
    • Rajamannan NM, Evans FJ, Aikawa E, Grande-Allen KJ, Demer LL, Heistad DD, et al. Calcific aortic valve disease: Not simply a degenerative process: A review and agenda for research from the National Heart and Lung and Blood Institute Aortic Stenosis Working Group. Executive summary: Calcific aortic valve disease-2011 update. Circulation 2011; 124: 1783-1791.
    • (2011) Circulation , vol.124 , pp. 1783-1791
    • Rajamannan, N.M.1    Evans, F.J.2    Aikawa, E.3    Grande-Allen, K.J.4    Demer, L.L.5    Heistad, D.D.6
  • 7
    • 33745400942 scopus 로고    scopus 로고
    • Extracellular matrix remodeling and organization in developing and diseased aortic valves
    • Hinton RB Jr, Lincoln J, Deutsch GH, Osinska H, Manning PB, Benson DW, et al. Extracellular matrix remodeling and organization in developing and diseased aortic valves. Circ Res 2006; 98: 1431-1438.
    • (2006) Circ Res , vol.98 , pp. 1431-1438
    • Hinton Jr., R.B.1    Lincoln, J.2    Deutsch, G.H.3    Osinska, H.4    Manning, P.B.5    Benson, D.W.6
  • 8
    • 84858766326 scopus 로고    scopus 로고
    • Heart valve development, maintenance, and disease: The role of endothelial cells
    • Tao G, Kotick JD, Lincoln J. Heart valve development, maintenance, and disease: The role of endothelial cells. Curr Top Dev Biol 2012; 100: 203-232.
    • (2012) Curr Top Dev Biol , vol.100 , pp. 203-232
    • Tao, G.1    Kotick, J.D.2    Lincoln, J.3
  • 9
    • 33845362872 scopus 로고    scopus 로고
    • ColVa1 and ColXIa1 are required for myocardial morphogenesis and heart valve development
    • Lincoln J, Florer JB, Deutsch GH, Wenstrup RJ, Yutzey KE. ColVa1 and ColXIa1 are required for myocardial morphogenesis and heart valve development. Dev Dyn 2006; 235: 3295-3305.
    • (2006) Dev Dyn , vol.235 , pp. 3295-3305
    • Lincoln, J.1    Florer, J.B.2    Deutsch, G.H.3    Wenstrup, R.J.4    Yutzey, K.E.5
  • 10
    • 79955853727 scopus 로고    scopus 로고
    • The heterogeneous biomechanics and mechanobiology of the mitral valve: Implications for tissue engineering
    • Grande-Allen KJ, Liao J. The heterogeneous biomechanics and mechanobiology of the mitral valve: Implications for tissue engineering. Curr Cardiol Rep 2011; 13: 113-120.
    • (2011) Curr Cardiol Rep , vol.13 , pp. 113-120
    • Grande-Allen, K.J.1    Liao, J.2
  • 11
  • 12
    • 56749158817 scopus 로고    scopus 로고
    • Evolving concepts of cardiac valve dynamics
    • Schoen FJ. Evolving concepts of cardiac valve dynamics. Circulation 2008; 118: 1864-1880.
    • (2008) Circulation , vol.118 , pp. 1864-1880
    • Schoen, F.J.1
  • 13
    • 79951785577 scopus 로고    scopus 로고
    • Heart valve structure and function in development and disease
    • Hinton RB, Yutzey KE. Heart valve structure and function in development and disease. Annu Rev Physiol 2011; 73: 29-46.
    • (2011) Annu Rev Physiol , vol.73 , pp. 29-46
    • Hinton, R.B.1    Yutzey, K.E.2
  • 14
    • 80053089699 scopus 로고    scopus 로고
    • A decade of advances in the molecular embryology and genetics underlying congenital heart defects
    • Kodo K, Yamagishi H. A decade of advances in the molecular embryology and genetics underlying congenital heart defects. Circ J 2011; 75: 2296-2304.
    • (2011) Circ J , vol.75 , pp. 2296-2304
    • Kodo, K.1    Yamagishi, H.2
  • 15
    • 16844380290 scopus 로고    scopus 로고
    • Cell biology of cardiac cushion development
    • Person AD, Klewer SE, Runyan RB. 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
  • 17
    • 2442639010 scopus 로고    scopus 로고
    • Development of heart valve leaflets and supporting apparatus in chicken and mouse embryos
    • Lincoln J, Alfieri CM, Yutzey KE. Development of heart valve leaflets and supporting apparatus in chicken and mouse embryos. Dev Dyn 2004; 230: 239-250.
    • (2004) Dev Dyn , vol.230 , pp. 239-250
    • Lincoln, J.1    Alfieri, C.M.2    Yutzey, K.E.3
  • 18
    • 84861220802 scopus 로고    scopus 로고
    • Epicardially derived fibroblasts preferentially contribute to the parietal leaflets of the atrioventricular valves in the murine heart
    • Wessels A, van den Hoff MJ, Adamo RF, Phelps AL, Lockhart MM, Sauls K, et al. Epicardially derived fibroblasts preferentially contribute to the parietal leaflets of the atrioventricular valves in the murine heart. Dev Biol 2012; 366: 111-124.
    • (2012) Dev Biol , vol.366 , pp. 111-124
    • Wessels, A.1    van den Hoff, M.J.2    Adamo, R.F.3    Phelps, A.L.4    Lockhart, M.M.5    Sauls, K.6
  • 20
    • 84863114955 scopus 로고    scopus 로고
    • TGFβ and BMP signaling in cardiac cushion formation: Lessons from mice and chicken
    • Kruithof BP, Duim SN, Moerkamp AT, Goumans MJ. TGFβ and BMP signaling in cardiac cushion formation: Lessons from mice and chicken. Differentation 2012; 84: 89-102.
    • (2012) Differentation , vol.84 , pp. 89-102
    • Kruithof, B.P.1    Duim, S.N.2    Moerkamp, A.T.3    Goumans, M.J.4
  • 21
    • 69249219121 scopus 로고    scopus 로고
    • Roles of TGFβ and BMP during valvulo-septal endocardial cushion formation
    • Yamagishi T, Ando K, Nakamura H. Roles of TGFβ and BMP during valvulo-septal endocardial cushion formation. Anat Sci Int 2009; 84: 77-87.
    • (2009) Anat Sci Int , vol.84 , pp. 77-87
    • Yamagishi, T.1    Ando, K.2    Nakamura, H.3
  • 23
    • 0033784843 scopus 로고    scopus 로고
    • The transcription factor snail controls epithelialmesenchymal transitions by repressing E-cadherin expression
    • Cano A, Perez-Moreno MA, Rodrigo I, Locascio A, Blanco MJ, del Barrio MG, et al. The transcription factor snail controls epithelialmesenchymal transitions by repressing E-cadherin expression. Nat Cell Biol 2000; 2: 76-83.
    • (2000) Nat Cell Biol , vol.2 , pp. 76-83
    • Cano, A.1    Perez-Moreno, M.A.2    Rodrigo, I.3    Locascio, A.4    Blanco, M.J.5    del Barrio, M.G.6
  • 24
    • 48249103470 scopus 로고    scopus 로고
    • Slug is a direct Notch target required for initiation of cardiac cushion cellularization
    • Niessen K, Fu Y, Chang L, Hoodless PA, McFadden D, Karsan A. Slug is a direct Notch target required for initiation of cardiac cushion cellularization. J Cell Biol 2008; 182: 315-325.
    • (2008) J Cell Biol , vol.182 , pp. 315-325
    • Niessen, K.1    Fu, Y.2    Chang, L.3    Hoodless, P.A.4    McFadden, D.5    Karsan, A.6
  • 25
    • 82455218930 scopus 로고    scopus 로고
    • Mmp15 is a direct target of Snai1 during endothelial to mesenchymal transformation and endocardial cushion development
    • Tao G, Levay AK, Gridley T, Lincoln J. Mmp15 is a direct target of Snai1 during endothelial to mesenchymal transformation and endocardial cushion development. Dev Biol 2011; 359: 209-221.
    • (2011) Dev Biol , vol.359 , pp. 209-221
    • Tao, G.1    Levay, A.K.2    Gridley, T.3    Lincoln, J.4
  • 26
    • 70149088960 scopus 로고    scopus 로고
    • Heart valve development: Regulatory networks in development and disease
    • Combs MD, Yutzey KE. 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
  • 27
    • 3543095147 scopus 로고    scopus 로고
    • β-catenin is required for endothelial-mesenchymal transformation during heart cushion development in the mouse
    • Liebner S, Cattelino A, Gallini R, Rudini N, Iurlaro M, Piccolo S, et al. β-catenin is required for endothelial-mesenchymal transformation during heart cushion development in the mouse. J Cell Biol 2004; 166: 359-367.
    • (2004) J Cell Biol , vol.166 , pp. 359-367
    • Liebner, S.1    Cattelino, A.2    Gallini, R.3    Rudini, N.4    Iurlaro, M.5    Piccolo, S.6
  • 29
    • 11844273942 scopus 로고    scopus 로고
    • Frzb modulates Wnt-9a-mediated beta-catenin signaling during avian atrioventricular cardiac cushion development
    • Person AD, Garriock RJ, Krieg PA, Runyan RB, Klewer SE. Frzb modulates Wnt-9a-mediated beta-catenin signaling during avian atrioventricular cardiac cushion development. Dev Biol 2005; 278: 35-48.
    • (2005) Dev Biol , vol.278 , pp. 35-48
    • Person, A.D.1    Garriock, R.J.2    Krieg, P.A.3    Runyan, R.B.4    Klewer, S.E.5
  • 30
    • 84857004535 scopus 로고    scopus 로고
    • Coordinating tissue interactions: Notch signaling in cardiac development and disease
    • de la Pompa JL, Epstein JA. Coordinating tissue interactions: Notch signaling in cardiac development and disease. Dev Cell 2012; 22: 244-254.
    • (2012) Dev Cell , vol.22 , pp. 244-254
    • de la Pompa, J.L.1    Epstein, J.A.2
  • 31
    • 77957847171 scopus 로고    scopus 로고
    • Integration of a Notch-dependent mesenchymal gene program and Bmp2-driven cell invasiveness regulates murine cardiac valve formation
    • Luna-Zurita L, Prados B, Grego-Bessa J, Luxan G, del Monte G, Benguria A, et al. Integration of a Notch-dependent mesenchymal gene program and Bmp2-driven cell invasiveness regulates murine cardiac valve formation. J Clin Invest 2010; 120: 3493-3507.
    • (2010) J Clin Invest , vol.120 , pp. 3493-3507
    • Luna-Zurita, L.1    Prados, B.2    Grego-Bessa, J.3    Luxan, G.4    del Monte, G.5    Benguria, A.6
  • 32
    • 50949132502 scopus 로고    scopus 로고
    • Cardiovascular and hematopoietic defects associated with Notch1 activation in embryonic Tie2-expressing populations
    • Venkatesh DA, Park KS, Harrington A, Miceli-Libby L, Yoon JK, Liaw L. Cardiovascular and hematopoietic defects associated with Notch1 activation in embryonic Tie2-expressing populations. Circ Res 2008; 103: 423-431.
    • (2008) Circ Res , vol.103 , pp. 423-431
    • Venkatesh, D.A.1    Park, K.S.2    Harrington, A.3    Miceli-Libby, L.4    Yoon, J.K.5    Liaw, L.6
  • 33
    • 45149102678 scopus 로고    scopus 로고
    • Notch signaling in cardiac development
    • Niessen K, Karsan A. Notch signaling in cardiac development. Circ Res 2008; 102: 1169-1181.
    • (2008) Circ Res , vol.102 , pp. 1169-1181
    • Niessen, K.1    Karsan, A.2
  • 34
    • 33947309902 scopus 로고    scopus 로고
    • Hesr1 and Hesr2 regulate atrioventricular boundary formation in the developing heart through the repression of Tbx2
    • Kokubo H, Tomita-Miyagawa S, Hamada Y, Saga Y. Hesr1 and Hesr2 regulate atrioventricular boundary formation in the developing heart through the repression of Tbx2. Development 2007; 134: 747-755.
    • (2007) Development , vol.134 , pp. 747-755
    • Kokubo, H.1    Tomita-Miyagawa, S.2    Hamada, Y.3    Saga, Y.4
  • 35
    • 33751542475 scopus 로고    scopus 로고
    • Developmental patterning of the cardiac atrioventricular canal by Notch and Hairy-related transcription factors
    • Rutenberg JB, Fischer A, Jia H, Gessler M, Zhong TP, Mercola M. Developmental patterning of the cardiac atrioventricular canal by Notch and Hairy-related transcription factors. Development 2006; 133: 4381-4390.
    • (2006) Development , vol.133 , pp. 4381-4390
    • Rutenberg, J.B.1    Fischer, A.2    Jia, H.3    Gessler, M.4    Zhong, T.P.5    Mercola, M.6
  • 36
    • 0034985151 scopus 로고    scopus 로고
    • A novel role for VEGF in endocardial cushion formation and its potential contribution to congenital heart defects
    • Dor Y, Camenisch TD, Itin A, Fishman GI, McDonald JA, Carmeliet P, et al. A novel role for VEGF in endocardial cushion formation and its potential contribution to congenital heart defects. Development 2001; 128: 1531-1538.
    • (2001) Development , vol.128 , pp. 1531-1538
    • Dor, Y.1    Camenisch, T.D.2    Itin, A.3    Fishman, G.I.4    McDonald, J.A.5    Carmeliet, P.6
  • 37
    • 70349237400 scopus 로고    scopus 로고
    • VEGF and RANKL regulation of NFATc1 in heart valve development
    • Combs MD, Yutzey KE. VEGF and RANKL regulation of NFATc1 in heart valve development. Circ Res 2009; 105: 565-574.
    • (2009) Circ Res , vol.105 , pp. 565-574
    • Combs, M.D.1    Yutzey, K.E.2
  • 38
    • 77957906102 scopus 로고    scopus 로고
    • VEGF signaling has distinct spatiotemporal roles during heart valve development
    • Stankunas K, Ma GK, Kuhnert FJ, Kuo CJ, Chang CP. VEGF signaling has distinct spatiotemporal roles during heart valve development. Dev Biol 2010; 347: 325-336.
    • (2010) Dev Biol , vol.347 , pp. 325-336
    • Stankunas, K.1    Ma, G.K.2    Kuhnert, F.J.3    Kuo, C.J.4    Chang, C.P.5
  • 39
    • 79960374172 scopus 로고    scopus 로고
    • Nfatc1 coordinates valve endocardial cell lineage development required for heart valve formation
    • Wu B, Wang Y, Lui W, Langworthy M, Tompkins KL, Hatzopoulos AK, et al. Nfatc1 coordinates valve endocardial cell lineage development required for heart valve formation. Circ Res 2011; 109: 183-192.
    • (2011) Circ Res , vol.109 , pp. 183-192
    • Wu, B.1    Wang, Y.2    Lui, W.3    Langworthy, M.4    Tompkins, K.L.5    Hatzopoulos, A.K.6
  • 40
    • 0035923477 scopus 로고    scopus 로고
    • Activated interstitial myofibroblasts express catabolic enzymes and mediate matrix remodeling in myxomatous heart valves
    • Rabkin E, Aikawa M, Stone JR, Fukumoto Y, Libby P, Schoen FJ. Activated interstitial myofibroblasts express catabolic enzymes and mediate matrix remodeling in myxomatous heart valves. Circulation 2001; 104: 2525-2532.
    • (2001) Circulation , vol.104 , pp. 2525-2532
    • Rabkin, E.1    Aikawa, M.2    Stone, J.R.3    Fukumoto, Y.4    Libby, P.5    Schoen, F.J.6
  • 41
    • 84885398149 scopus 로고    scopus 로고
    • BMP-2 induces versican and hyaluronan that contribute to post-EMT AV cushion cell migration
    • doi:10.1371/journal. pone.0077593
    • Inai K, Burnside JL, Hoffman S, Toole BP, Sugi Y. BMP-2 induces versican and hyaluronan that contribute to post-EMT AV cushion cell migration. PLoS One 2013; 8: e77593, doi:10.1371/journal. pone.0077593.
    • (2013) PLoS One , vol.8
    • Inai, K.1    Burnside, J.L.2    Hoffman, S.3    Toole, B.P.4    Sugi, Y.5
  • 42
    • 34247249338 scopus 로고    scopus 로고
    • Sox9 is required for precursor cell expansion and extracellular matrix organization during mouse heart valve development
    • Lincoln J, Kist R, Scherer G, Yutzey KE. Sox9 is required for precursor cell expansion and extracellular matrix organization during mouse heart valve development. Dev Biol 2007; 305: 120-132.
    • (2007) Dev Biol , vol.305 , pp. 120-132
    • Lincoln, J.1    Kist, R.2    Scherer, G.3    Yutzey, K.E.4
  • 43
    • 84887141758 scopus 로고    scopus 로고
    • Tgfbeta-Smad and MAPK signaling mediate scleraxis and proteoglycan expression in heart valves
    • Barnette DN, Hulin A, Ahmed AS, Colige AC, Azhar M, Lincoln J. Tgfbeta-Smad and MAPK signaling mediate scleraxis and proteoglycan expression in heart valves. J Mol Cell Cardiol 2013; 65: 137-146.
    • (2013) J Mol Cell Cardiol , vol.65 , pp. 137-146
    • Barnette, D.N.1    Hulin, A.2    Ahmed, A.S.3    Colige, A.C.4    Azhar, M.5    Lincoln, J.6
  • 45
    • 79960248723 scopus 로고    scopus 로고
    • Heredity of bicuspid aortic valve: Is family screening indicated?
    • McBride KL, Garg V. Heredity of bicuspid aortic valve: Is family screening indicated? Heart 2011; 97: 1193-1195.
    • (2011) Heart , vol.97 , pp. 1193-1195
    • McBride, K.L.1    Garg, V.2
  • 46
    • 33748196362 scopus 로고    scopus 로고
    • Molecular genetics of aortic valve disease
    • Garg V. Molecular genetics of aortic valve disease. Curr Opin Cardiol 2006; 21: 180-184.
    • (2006) Curr Opin Cardiol , vol.21 , pp. 180-184
    • Garg, V.1
  • 47
    • 70549085998 scopus 로고    scopus 로고
    • Bicuspid aortic valves with different spatial orientations of the leaflets are distinct etiological entities
    • Fernandez B, Duran AC, Fernandez-Gallego T, Fernandez MC, Such M, Arque JM, et al. Bicuspid aortic valves with different spatial orientations of the leaflets are distinct etiological entities. J Am Coll Cardiol 2009; 54: 2312-2318.
    • (2009) J Am Coll Cardiol , vol.54 , pp. 2312-2318
    • Fernandez, B.1    Duran, A.C.2    Fernandez-Gallego, T.3    Fernandez, M.C.4    Such, M.5    Arque, J.M.6
  • 48
    • 84900301375 scopus 로고    scopus 로고
    • Aortic dilatation in patients with bicuspid aortic valve
    • Verma S, Siu SC. Aortic dilatation in patients with bicuspid aortic valve. N Engl J Med 2014; 370: 1920-1929.
    • (2014) N Engl J Med , vol.370 , pp. 1920-1929
    • Verma, S.1    Siu, S.C.2
  • 49
    • 50849104527 scopus 로고    scopus 로고
    • NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling
    • McBride KL, Riley MF, Zender GA, Fitzgerald-Butt SM, Towbin JA, Belmont JW, et al. NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. Hum Mol Genet 2008; 17: 2886-2893.
    • (2008) Hum Mol Genet , vol.17 , pp. 2886-2893
    • McBride, K.L.1    Riley, M.F.2    Zender, G.A.3    Fitzgerald-Butt, S.M.4    Towbin, J.A.5    Belmont, J.W.6
  • 50
    • 84875945499 scopus 로고    scopus 로고
    • Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve
    • Foffa I, Ait Ali L, Panesi P, Mariani M, Festa P, Botto N, et al. Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve. BMC Med Genet 2013; 14: 44.
    • (2013) BMC Med Genet , vol.14 , pp. 44
    • Foffa, I.1    Ait Ali, L.2    Panesi, P.3    Mariani, M.4    Festa, P.5    Botto, N.6
  • 52
    • 79959913398 scopus 로고    scopus 로고
    • Loss of Gata5 in mice leads to bicuspid aortic valve
    • Laforest B, Andelfinger G, Nemer M. Loss of Gata5 in mice leads to bicuspid aortic valve. J Clin Invest 2011; 121: 2876-2887.
    • (2011) J Clin Invest , vol.121 , pp. 2876-2887
    • Laforest, B.1    Andelfinger, G.2    Nemer, M.3
  • 53
    • 84862854537 scopus 로고    scopus 로고
    • Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease
    • Padang R, Bagnall RD, Richmond DR, Bannon PG, Semsarian C. Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease. J Mol Cell Cardiol 2012; 53: 277-281.
    • (2012) J Mol Cell Cardiol , vol.53 , pp. 277-281
    • Padang, R.1    Bagnall, R.D.2    Richmond, D.R.3    Bannon, P.G.4    Semsarian, C.5
  • 56
    • 67649354791 scopus 로고    scopus 로고
    • Abundance and localization of proteoglycans and hyaluronan within normal and myxomatous mitral valves
    • Gupta V, Barzilla JE, Mendez JS, Stephens EH, Lee EL, Collard CD, et al. Abundance and localization of proteoglycans and hyaluronan within normal and myxomatous mitral valves. Cardiovasc Pathol 2009; 18: 191-197.
    • (2009) Cardiovasc Pathol , vol.18 , pp. 191-197
    • Gupta, V.1    Barzilla, J.E.2    Mendez, J.S.3    Stephens, E.H.4    Lee, E.L.5    Collard, C.D.6
  • 57
    • 0025886783 scopus 로고
    • Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
    • Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352: 337-339.
    • (1991) Nature , vol.352 , pp. 337-339
    • Dietz, H.C.1    Cutting, G.R.2    Pyeritz, R.E.3    Maslen, C.L.4    Sakai, L.Y.5    Corson, G.M.6
  • 58
    • 15244363856 scopus 로고    scopus 로고
    • TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome
    • Ng CM, Cheng A, Myers LA, Martinez-Murillo F, Jie C, Bedja D, et al. TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest 2004; 114: 1586-1592.
    • (2004) J Clin Invest , vol.114 , pp. 1586-1592
    • Ng, C.M.1    Cheng, A.2    Myers, L.A.3    Martinez-Murillo, F.4    Jie, C.5    Bedja, D.6
  • 59
    • 81855164733 scopus 로고    scopus 로고
    • Translational research on the mitral valve: From developmental mechanisms to new therapies
    • Judge DP, Markwald RR, Hagege AA, Levine RA. Translational research on the mitral valve: From developmental mechanisms to new therapies. J Cardiovasc Transl Res 2011; 4: 699-701.
    • (2011) J Cardiovasc Transl Res , vol.4 , pp. 699-701
    • Judge, D.P.1    Markwald, R.R.2    Hagege, A.A.3    Levine, R.A.4
  • 60
    • 33846035657 scopus 로고    scopus 로고
    • Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy
    • Kyndt F, Gueffet JP, Probst V, Jaafar P, Legendre A, Le Bouffant F, et al. Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. Circulation 2007; 115: 40-49.
    • (2007) Circulation , vol.115 , pp. 40-49
    • Kyndt, F.1    Gueffet, J.P.2    Probst, V.3    Jaafar, P.4    Legendre, A.5    Le Bouffant, F.6
  • 61
    • 81855208991 scopus 로고    scopus 로고
    • Filamin-a-related myxomatous mitral valve dystrophy: Genetic, echocardiographic and functional aspects
    • Lardeux A, Kyndt F, Lecointe S, Marec HL, Merot J, Schott JJ, et al. Filamin-a-related myxomatous mitral valve dystrophy: Genetic, echocardiographic and functional aspects. J Cardiovasc Transl Res 2011; 4: 748-756.
    • (2011) J Cardiovasc Transl Res , vol.4 , pp. 748-756
    • Lardeux, A.1    Kyndt, F.2    Lecointe, S.3    Marec, H.L.4    Merot, J.5    Schott, J.J.6
  • 64
    • 33847064685 scopus 로고    scopus 로고
    • Genome-wide linkage mapping for valve calcification susceptibility loci in hypertensive sibships: The Hypertension Genetic Epidemiology Network Study
    • Bella JN, Tang W, Kraja A, Rao DC, Hunt SC, Miller MB, et al. Genome-wide linkage mapping for valve calcification susceptibility loci in hypertensive sibships: The Hypertension Genetic Epidemiology Network Study. Hypertension 2007; 49: 453-460.
    • (2007) Hypertension , vol.49 , pp. 453-460
    • Bella, J.N.1    Tang, W.2    Kraja, A.3    Rao, D.C.4    Hunt, S.C.5    Miller, M.B.6
  • 67
    • 84868514989 scopus 로고    scopus 로고
    • Endothelial deletion of murine Jag1 leads to valve calcification and congenital heart defects associated with Alagille syndrome
    • Hofmann JJ, Briot A, Enciso J, Zovein AC, Ren S, Zhang ZW, et al. Endothelial deletion of murine Jag1 leads to valve calcification and congenital heart defects associated with Alagille syndrome. Development 2012; 139: 4449-4460.
    • (2012) Development , vol.139 , pp. 4449-4460
    • Hofmann, J.J.1    Briot, A.2    Enciso, J.3    Zovein, A.C.4    Ren, S.5    Zhang, Z.W.6
  • 70
    • 81155128090 scopus 로고    scopus 로고
    • Inhibitory role of Notch1 in calcific aortic valve disease
    • doi:10.1371/journal.pone.0027743
    • Acharya A, Hans CP, Koenig SN, Nichols HA, Galindo CL, Garner HR, et al. Inhibitory role of Notch1 in calcific aortic valve disease. PLoS One 2011; 6: e27743, doi:10.1371/journal.pone.0027743.
    • (2011) PLoS One , vol.6
    • Acharya, A.1    Hans, C.P.2    Koenig, S.N.3    Nichols, H.A.4    Galindo, C.L.5    Garner, H.R.6
  • 71
    • 77949388887 scopus 로고    scopus 로고
    • Reduced sox9 function promotes heart valve calcification phenotypes in vivo
    • Peacock JD, Levay AK, Gillaspie DB, Tao G, Lincoln J. Reduced sox9 function promotes heart valve calcification phenotypes in vivo. Circ Res 2010; 106: 712-719.
    • (2010) Circ Res , vol.106 , pp. 712-719
    • Peacock, J.D.1    Levay, A.K.2    Gillaspie, D.B.3    Tao, G.4    Lincoln, J.5
  • 72
    • 80055026826 scopus 로고    scopus 로고
    • Sox9 transcriptionally represses Spp1 to prevent matrix mineralization in maturing heart valves and chondrocytes
    • doi:10.1371/ journal.pone.0026769
    • Peacock JD, Huk DJ, Ediriweera HN, Lincoln J. Sox9 transcriptionally represses Spp1 to prevent matrix mineralization in maturing heart valves and chondrocytes. PLoS One 2011; 6: e26769, doi:10.1371/ journal.pone.0026769.
    • (2011) PLoS One , vol.6
    • Peacock, J.D.1    Huk, D.J.2    Ediriweera, H.N.3    Lincoln, J.4
  • 73
    • 79551611520 scopus 로고    scopus 로고
    • Differential expression of cartilage and bone-related proteins in pediatric and adult diseased aortic valves
    • Wirrig EE, Hinton RB, Yutzey KE. Differential expression of cartilage and bone-related proteins in pediatric and adult diseased aortic valves. J Mol Cell Cardiol 2011; 50: 561-569.
    • (2011) J Mol Cell Cardiol , vol.50 , pp. 561-569
    • Wirrig, E.E.1    Hinton, R.B.2    Yutzey, K.E.3
  • 75
    • 33646466212 scopus 로고    scopus 로고
    • Human degenerative valve disease is associated with up-regulation of low-density lipoprotein receptor-related protein 5 receptormediated bone formation
    • Caira FC, Stock SR, Gleason TG, McGee EC, Huang J, Bonow RO, et al. Human degenerative valve disease is associated with up-regulation of low-density lipoprotein receptor-related protein 5 receptormediated bone formation. J Am Coll Cardiol 2006; 47: 1707-1712.
    • (2006) J Am Coll Cardiol , vol.47 , pp. 1707-1712
    • Caira, F.C.1    Stock, S.R.2    Gleason, T.G.3    McGee, E.C.4    Huang, J.5    Bonow, R.O.6
  • 76
    • 84875533100 scopus 로고    scopus 로고
    • Human genomics in cardiovascular medicine: Implications and perspectives
    • Morita H. Human genomics in cardiovascular medicine: Implications and perspectives. Circ J 2013; 77: 876-885.
    • (2013) Circ J , vol.77 , pp. 876-885
    • Morita, H.1
  • 77
    • 33645672459 scopus 로고    scopus 로고
    • Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome
    • Habashi JP, Judge DP, Holm TM, Cohn RD, Loeys B, Cooper TK, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006; 312: 117-121.
    • (2006) Science , vol.312 , pp. 117-121
    • Habashi, J.P.1    Judge, D.P.2    Holm, T.M.3    Cohn, R.D.4    Loeys, B.5    Cooper, T.K.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.