메뉴 건너뛰기




Volumn 11, Issue , 2016, Pages 395-419

Genetics of Cardiac Developmental Disorders: Cardiomyocyte Proliferation and Growth and Relevance to Heart Failure

Author keywords

Cardiomyopathy; Left ventricular noncompaction; Myocardial development; Noncompaction; Trabeculation

Indexed keywords

ADAMTS1 PROTEIN; BETA1 INTEGRIN; BRG1 PROTEIN; EPIDERMAL GROWTH FACTOR RECEPTOR 2; EPIDERMAL GROWTH FACTOR RECEPTOR 4; ERYTHROPOIETIN; ERYTHROPOIETIN RECEPTOR; FIBROBLAST GROWTH FACTOR 16; FIBROBLAST GROWTH FACTOR 20; FIBROBLAST GROWTH FACTOR 9; FIBULIN 1; FOCAL ADHESION KINASE; FOCAL ADHESION KINASE RELATED NONKINASE; HYALURONIC ACID; MYOCARDIN; NEU DIFFERENTIATION FACTOR; NEUROFIBROMIN; NOTCH1 RECEPTOR; NOTCH2 RECEPTOR; PROTEIN; PROTEIN BMP10; PROTEIN NUMB; PROTEIN NUMBLIKE; PROTEIN TBX20; RETINOID X RECEPTOR ALPHA; SOMATOMEDIN B; TRANSCRIPTION FACTOR GATA 2; TRANSCRIPTION FACTOR NKX2.5; TRANSCRIPTION FACTOR YAP1; UNCLASSIFIED DRUG; VERSICAN;

EID: 84971280150     PISSN: 15534006     EISSN: 15534014     Source Type: Book Series    
DOI: 10.1146/annurev-pathol-012615-044336     Document Type: Article
Times cited : (33)

References (138)
  • 1
    • 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. 39:1890-900
    • (2002) J. Am. Coll. Cardiol. , vol.39 , pp. 1890-1900
    • Hoffman, J.I.1    Kaplan, S.2
  • 2
    • 33646693410 scopus 로고    scopus 로고
    • Contemporary definitions and classification of the cardiomyopathies: An American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; And Council on Epidemiology and Prevention
    • Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, et al. 2006. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation 113:1807-16
    • (2006) Circulation , vol.113 , pp. 1807-1816
    • Maron, B.J.1    Towbin, J.A.2    Thiene, G.3    Antzelevitch, C.4    Corrado, D.5
  • 3
    • 33645730373 scopus 로고    scopus 로고
    • Genetic regulation of cardiogenesis and congenital heart disease
    • Srivastava D. 2006. Genetic regulation of cardiogenesis and congenital heart disease. Annu. Rev. Pathol. 1:199-213
    • (2006) Annu. Rev. Pathol. , vol.1 , pp. 199-213
    • Srivastava, D.1
  • 4
    • 0036301401 scopus 로고    scopus 로고
    • Patterning the vertebrate heart
    • Harvey RP. 2002. Patterning the vertebrate heart. Nat. Rev. Genet. 3:544-56
    • (2002) Nat. Rev. Genet. , vol.3 , pp. 544-556
    • Harvey, R.P.1
  • 5
    • 84869485293 scopus 로고    scopus 로고
    • Early cardiac development: A view from stem cells to embryos
    • Van Vliet P,Wu SM, Zaffran S, Puceat M. 2012. Early cardiac development: A view from stem cells to embryos. Cardiovasc. Res. 96:352-62
    • (2012) Cardiovasc. Res. , vol.96 , pp. 352-362
    • Van Vliet, P.1    Wu, S.M.2    Zaffran, S.3    Puceat, M.4
  • 7
    • 33745828702 scopus 로고    scopus 로고
    • EGF-ERBB signalling: Towards the systems level
    • Citri A, Yarden Y. 2006. EGF-ERBB signalling: Towards the systems level. Nat. Rev. Mol. Cell Biol. 7:505-16
    • (2006) Nat. Rev. Mol. Cell Biol. , vol.7 , pp. 505-516
    • Citri, A.1    Yarden, Y.2
  • 8
    • 0033603308 scopus 로고    scopus 로고
    • Neuregulin signaling in the heart. Dynamic targeting of erbB4 to caveolar microdomains in cardiac myocytes
    • Zhao YY, Feron O, Dessy C, Han X, Marchionni MA, Kelly RA. 1999. Neuregulin signaling in the heart. Dynamic targeting of erbB4 to caveolar microdomains in cardiac myocytes. Circ. Res. 84:1380-87
    • (1999) Circ. Res. , vol.84 , pp. 1380-1387
    • Zhao, Y.Y.1    Feron, O.2    Dessy, C.3    Han, X.4    Marchionni, M.A.5    Kelly, R.A.6
  • 9
    • 9944229488 scopus 로고    scopus 로고
    • Convergent proliferative response and divergent morphogenic pathways induced by epicardial and endocardial signaling in fetal heart development
    • Kang J-O, Sucov HM. 2005. Convergent proliferative response and divergent morphogenic pathways induced by epicardial and endocardial signaling in fetal heart development. Mech. Dev. 122:57-65
    • (2005) Mech. Dev. , vol.122 , pp. 57-65
    • Kang, J.-O.1    Sucov, H.M.2
  • 10
    • 0033601174 scopus 로고    scopus 로고
    • Synergistic roles of neuregulin-1 and insulinlike growth factor-I in activation of the phosphatidylinositol 3-kinase pathway and cardiac chamber morphogenesis
    • Hertig CM, Kubalak SW, Wang Y, Chien KR. 1999. Synergistic roles of neuregulin-1 and insulinlike growth factor-I in activation of the phosphatidylinositol 3-kinase pathway and cardiac chamber morphogenesis. J. Biol. Chem. 274:37362-69
    • (1999) J. Biol. Chem. , vol.274 , pp. 37362-37369
    • Hertig, C.M.1    Kubalak, S.W.2    Wang, Y.3    Chien, K.R.4
  • 12
    • 0028785406 scopus 로고
    • Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor
    • Gassmann M, Casagranda F, Orioli D, Simon H, Lai C, et al. 1995. Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor. Nature 378:390-94
    • (1995) Nature , vol.378 , pp. 390-394
    • Gassmann, M.1    Casagranda, F.2    Orioli, D.3    Simon, H.4    Lai, C.5
  • 13
    • 0028884413 scopus 로고
    • Requirement for neuregulin receptor erbB2 in neural and cardiac development
    • Lee KF, Simon H, Chen H, Bates B, Hung MC, Hauser C. 1995. Requirement for neuregulin receptor erbB2 in neural and cardiac development. Nature 378:394-98
    • (1995) Nature , vol.378 , pp. 394-398
    • Lee, K.F.1    Simon, H.2    Chen, H.3    Bates, B.4    Hung, M.C.5    Hauser, C.6
  • 14
    • 0028827104 scopus 로고
    • Multiple essential functions of neuregulin in development
    • Meyer D, Birchmeier C. 1995. Multiple essential functions of neuregulin in development. Nature 378:386-90
    • (1995) Nature , vol.378 , pp. 386-390
    • Meyer, D.1    Birchmeier, C.2
  • 15
    • 0030009007 scopus 로고    scopus 로고
    • Neuregulins with an Ig-like domain are essential for mouse myocardial and neuronal development
    • Kramer R, Bucay N, Kane DJ, Martin LE, Tarpley JE, Theill LE. 1996. Neuregulins with an Ig-like domain are essential for mouse myocardial and neuronal development. PNAS 93:4833-38
    • (1996) PNAS , vol.93 , pp. 4833-4838
    • Kramer, R.1    Bucay, N.2    Kane, D.J.3    Martin, L.E.4    Tarpley, J.E.5    Theill, L.E.6
  • 16
    • 1542344524 scopus 로고    scopus 로고
    • Notch function in the vasculature: Insights from zebrafish, mouse and man
    • Shawber CJ, Kitajewski J. 2004. Notch function in the vasculature: insights from zebrafish, mouse and man. Bioessays 26:225-34
    • (2004) Bioessays , vol.26 , pp. 225-234
    • Shawber, C.J.1    Kitajewski, J.2
  • 18
    • 84875981663 scopus 로고    scopus 로고
    • Fkbp1a controls ventricular myocardium trabeculation and compaction by regulating endocardial Notch1 activity
    • Chen H, ZhangW, Sun X, YoshimotoM, Chen Z, et al. 2013. Fkbp1a controls ventricular myocardium trabeculation and compaction by regulating endocardial Notch1 activity. Development 140:1946-57
    • (2013) Development , vol.140 , pp. 1946-1957
    • Chen, H.1    Zhang, W.2    Sun, X.3    Yoshimoto, M.4    Chen, Z.5
  • 19
    • 0032576689 scopus 로고    scopus 로고
    • Cardiac defects and altered ryanodine receptor function in mice lacking FKBP12
    • Shou W, Aghdasi B, Armstrong DL, Guo Q, Bao S, et al. 1998. Cardiac defects and altered ryanodine receptor function in mice lacking FKBP12. Nature 391:489-92
    • (1998) Nature , vol.391 , pp. 489-492
    • Shou, W.1    Aghdasi, B.2    Armstrong, D.L.3    Guo, Q.4    Bao, S.5
  • 20
    • 84873536788 scopus 로고    scopus 로고
    • Mutations in theNOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy
    • Luxán G, Casanova JC, Martínez-PovedaB,Prados B, D'Amato G, et al. 2013. Mutations in theNOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy. Nat. Med. 19:193-201
    • (2013) Nat. Med. , vol.19 , pp. 193-201
    • Luxán, G.1    Casanova, J.C.2    Martínez-Poveda, B.3    Prados, B.4    D'Amato, G.5
  • 21
    • 0042887604 scopus 로고    scopus 로고
    • TACE is required for fetal murine cardiac development and modeling
    • Shi W, Chen H, Sun J, Buckley S, Zhao J, et al. 2003. TACE is required for fetal murine cardiac development and modeling. Dev. Biol. 261:371-80
    • (2003) Dev. Biol. , vol.261 , pp. 371-380
    • Shi, W.1    Chen, H.2    Sun, J.3    Buckley, S.4    Zhao, J.5
  • 22
    • 84867720848 scopus 로고    scopus 로고
    • Inhibition of Notch2 by Numb/Numblike controls myocardial compaction in the heart
    • Yang J, Bücker S, Jungblut B, Böttger T, Cinnamon Y, et al. 2012. Inhibition of Notch2 by Numb/Numblike controls myocardial compaction in the heart. Cardiovasc. Res. 96:276-85
    • (2012) Cardiovasc. Res. , vol.96 , pp. 276-285
    • Yang, J.1    Bücker, S.2    Jungblut, B.3    Böttger, T.4    Cinnamon, Y.5
  • 23
    • 0035097937 scopus 로고    scopus 로고
    • Defects in development of the kidney, heart and eye vasculature inmice homozygous for a hypomorphic Notch2 mutation
    • McCright B, Gao X, Shen L, Lozier J, Lan Y, et al. 2001. Defects in development of the kidney, heart and eye vasculature inmice homozygous for a hypomorphic Notch2 mutation. Development 128:491-502
    • (2001) Development , vol.128 , pp. 491-502
    • McCright, B.1    Gao, X.2    Shen, L.3    Lozier, J.4    Lan, Y.5
  • 24
    • 84867145472 scopus 로고    scopus 로고
    • Myocardin regulates BMP10 expression and is required for heart development
    • Huang J, Elicker J, Bowens N, Liu X, Cheng L, et al. 2012. Myocardin regulates BMP10 expression and is required for heart development. J. Clin. Investig. 122:3678-91
    • (2012) J. Clin. Investig. , vol.122 , pp. 3678-3691
    • Huang, J.1    Elicker, J.2    Bowens, N.3    Liu, X.4    Cheng, L.5
  • 25
    • 84857510566 scopus 로고    scopus 로고
    • FKBP12 activates the cardiac ryanodine receptor Ca2+-release channel and is antagonised by FKBP12. 6
    • GalfréE, Pitt SJ, VenturiE, SitsapesanM,Zaccai NR, et al. 2012. FKBP12 activates the cardiac ryanodine receptor Ca2+-release channel and is antagonised by FKBP12.6. PLOS ONE 7:e31956
    • (2012) PLOS ONE , vol.7 , pp. e31956
    • Galfrée1    Pitt, S.J.2    Venturi, E.3    Sitsapesan, M.4    Zaccai, N.R.5
  • 26
    • 11144357335 scopus 로고    scopus 로고
    • Nkx2-5 pathways and congenital heart disease; Loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block
    • Pashmforoush M, Lu JT, Chen H, Amand TS, Kondo R, et al. 2004. Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block. Cell 117:373-86
    • (2004) Cell , vol.117 , pp. 373-386
    • Pashmforoush, M.1    Lu, J.T.2    Chen, H.3    Amand, T.S.4    Kondo, R.5
  • 27
    • 2042462926 scopus 로고    scopus 로고
    • BMP10 is essential for maintaining cardiac growth during murine cardiogenesis
    • Chen H, Shi S, Acosta L, Li W, Lu J, et al. 2004. BMP10 is essential for maintaining cardiac growth during murine cardiogenesis. Development 131:2219-31
    • (2004) Development , vol.131 , pp. 2219-2231
    • Chen, H.1    Shi, S.2    Acosta, L.3    Li, W.4    Lu, J.5
  • 28
    • 80054683546 scopus 로고    scopus 로고
    • Tbx20 transcription factor is a downstream mediator for bone morphogenetic protein-10 in regulating cardiac ventricular wall development and function
    • ZhangW, Chen H,Wang Y, YongW, Zhu W, et al. 2011. Tbx20 transcription factor is a downstream mediator for bone morphogenetic protein-10 in regulating cardiac ventricular wall development and function. J. Biol. Chem. 286:36820-29
    • (2011) J. Biol. Chem. , vol.286 , pp. 36820-36829
    • Zhang, W.1    Chen, H.2    Wang, Y.3    Yong, W.4    Zhu, W.5
  • 29
    • 84055193910 scopus 로고    scopus 로고
    • Tbx20 regulates a genetic program essential to adult mouse cardiomyocyte function
    • Shen T, Aneas I, Sakabe N, Dirschinger RJ, Wang G, et al. 2011. Tbx20 regulates a genetic program essential to adult mouse cardiomyocyte function. J. Clin. Investig. 121:4640-54
    • (2011) J. Clin. Investig. , vol.121 , pp. 4640-4654
    • Shen, T.1    Aneas, I.2    Sakabe, N.3    Dirschinger, R.J.4    Wang, G.5
  • 30
    • 0035207820 scopus 로고    scopus 로고
    • Cloning and expression analysis of the mouse T-box gene Tbx20
    • Kraus F, Haenig B, Kispert A. 2001. Cloning and expression analysis of the mouse T-box gene Tbx20. Mech. Dev. 100:87-91
    • (2001) Mech. Dev. , vol.100 , pp. 87-91
    • Kraus, F.1    Haenig, B.2    Kispert, A.3
  • 31
    • 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 EP, Sunde M, Costa MW, Rankin SA, Wolstein O, et al. 2007. 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. 81:280-91
    • (2007) Am. J. Hum. Genet. , vol.81 , pp. 280-291
    • Kirk, E.P.1    Sunde, M.2    Costa, M.W.3    Rankin, S.A.4    Wolstein, O.5
  • 32
    • 21044454606 scopus 로고    scopus 로고
    • T-box genes coordinate regional rates of proliferation and regional specification during cardiogenesis
    • Cai CL, Zhou W, Yang L, Bu L, Qyang Y, et al. 2005. T-box genes coordinate regional rates of proliferation and regional specification during cardiogenesis. Development 132:2475-87
    • (2005) Development , vol.132 , pp. 2475-2487
    • Cai, C.L.1    Zhou, W.2    Yang, L.3    Bu, L.4    Qyang, Y.5
  • 34
    • 0028349997 scopus 로고
    • Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crestderived tissues
    • Brannan CI, Perkins AS, Vogel KS, Ratner N, Nordlund ML, et al. 1994. Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crestderived tissues. Genes Dev. 8:1019-29
    • (1994) Genes Dev. , vol.8 , pp. 1019-1029
    • Brannan, C.I.1    Perkins, A.S.2    Vogel, K.S.3    Ratner, N.4    Nordlund, M.L.5
  • 35
    • 0030480322 scopus 로고    scopus 로고
    • Requisite role of angiopoietin-1, a ligand for the TIE2 receptor, during embryonic angiogenesis
    • Suri C, Jones PF, Patan S, Bartunkova S,Maisonpierre PC, et al. 1996. Requisite role of angiopoietin-1, a ligand for the TIE2 receptor, during embryonic angiogenesis. Cell 87:1171-80
    • (1996) Cell , vol.87 , pp. 1171-1180
    • Suri, C.1    Jones, P.F.2    Patan, S.3    Bartunkova, S.4    Maisonpierre, P.C.5
  • 36
    • 79957880117 scopus 로고    scopus 로고
    • Angiopoietin-1 is essential in mouse vasculature during development and in response to injury
    • JeanssonM, Gawlik A, Anderson G, Li C, Kerjaschki D, et al. 2011. Angiopoietin-1 is essential in mouse vasculature during development and in response to injury. J. Clin. Investig. 121:2278-89
    • (2011) J. Clin. Investig. , vol.121 , pp. 2278-2289
    • Jeansson, M.1    Gawlik, A.2    Anderson, G.3    Li, C.4    Kerjaschki, D.5
  • 37
    • 0028122465 scopus 로고
    • Dominant-negative and targeted nullmutations in the endothelial receptor tyrosine kinase, tek, reveal a critical role in vasculogenesis of the embryo
    • Dumont DJ, Gradwohl G, Fong GH, PuriMC, Gertsenstein M, et al. 1994. Dominant-negative and targeted nullmutations in the endothelial receptor tyrosine kinase, tek, reveal a critical role in vasculogenesis of the embryo. Genes Dev. 8:1897-909
    • (1994) Genes Dev. , vol.8 , pp. 1897-1909
    • Dumont, D.J.1    Gradwohl, G.2    Fong, G.H.3    Puri, M.C.4    Gertsenstein, M.5
  • 38
  • 39
    • 0030004485 scopus 로고    scopus 로고
    • Heterozygous embryonic lethality induced by targeted inactivation of the VEGF gene
    • Ferrara N, Carver-Moore K, ChenH,DowdM, Lu L,O'Shea KS, et al. 1996. Heterozygous embryonic lethality induced by targeted inactivation of the VEGF gene. Nature 380:439-42
    • (1996) Nature , vol.380 , pp. 439-442
    • Ferrara, N.1    Carver-Moore, K.2    Chen, H.3    Dowd, M.4    Lu, L.5    O'Shea, K.S.6
  • 40
    • 0343920277 scopus 로고    scopus 로고
    • Abnormal blood vessel development and lethality in embryos lacking a single VEGF allele
    • Carmeliet P, Ferreira V, Breier G, Pollefeyt S, Kieckens L, et al. 1996. Abnormal blood vessel development and lethality in embryos lacking a single VEGF allele. Nature 380:435-39
    • (1996) Nature , vol.380 , pp. 435-439
    • Carmeliet, P.1    Ferreira, V.2    Breier, G.3    Pollefeyt, S.4    Kieckens, L.5
  • 41
    • 0033793921 scopus 로고    scopus 로고
    • Embryonic development is disrupted by modest increases in vascular endothelial growth factor gene expression
    • Miquerol L, Langille BL, Nagy A. 2000. Embryonic development is disrupted by modest increases in vascular endothelial growth factor gene expression. Development 127:3941-46
    • (2000) Development , vol.127 , pp. 3941-3946
    • Miquerol, L.1    Langille, B.L.2    Nagy, A.3
  • 42
    • 8444234265 scopus 로고    scopus 로고
    • A nullmutation ofHhex results in abnormal cardiac development, defective vasculogenesis and elevated Vegfa levels
    • Hallaq H, Pinter E, Enciso J,McGrath J, ZeissC, et al. 2004. A nullmutation ofHhex results in abnormal cardiac development, defective vasculogenesis and elevated Vegfa levels. Development 131:5197-209
    • (2004) Development , vol.131 , pp. 5197-5209
    • Hallaq, H.1    Pinter, E.2    Enciso, J.3    McGrath, J.4    Zeiss, C.5
  • 43
    • 84897077710 scopus 로고    scopus 로고
    • Murine Creld1 controls cardiac development through activation of calcineurin/NFATc1 signaling
    • Mass E, Wachten D, Aschenbrenner AC, Voelzmann A,HochM. 2014. Murine Creld1 controls cardiac development through activation of calcineurin/NFATc1 signaling. Dev. Cell 28:711-26
    • (2014) Dev. Cell , vol.28 , pp. 711-726
    • Mass, E.1    Wachten, D.2    Aschenbrenner, A.C.3    Voelzmann, A.4    Hoch, M.5
  • 44
    • 20744454114 scopus 로고    scopus 로고
    • Analysis of the proepicardium-epicardium transition during the malformation of the RXRα-/- epicardium
    • Jenkins SJ, Hutson DR, Kubalak SW. 2005. Analysis of the proepicardium-epicardium transition during the malformation of the RXRα-/- epicardium. Dev. Dyn. 233:1091-101
    • (2005) Dev. Dyn. , vol.233 , pp. 1091-1101
    • Jenkins, S.J.1    Hutson, D.R.2    Kubalak, S.W.3
  • 45
    • 0141816681 scopus 로고    scopus 로고
    • Epicardium is required for the full rate of myocyte proliferation and levels of expression of myocyte mitogenic factors FGF2 and its receptor, FGFR-1, but not for transmural myocardial patterning in the embryonic chick heart
    • Pennisi DJ, Ballard VLT, Mikawa T. 2003. Epicardium is required for the full rate of myocyte proliferation and levels of expression of myocyte mitogenic factors FGF2 and its receptor, FGFR-1, but not for transmural myocardial patterning in the embryonic chick heart. Dev. Dyn. 228:161-72
    • (2003) Dev. Dyn. , vol.228 , pp. 161-172
    • Pennisi, D.J.1    Ballard, V.L.T.2    Mikawa, T.3
  • 46
    • 0028952534 scopus 로고
    • Defective development of the embryonic and extraembryonic circulatory systems in vascular cell adhesion molecule (VCAM-1) deficient mice
    • Kwee L, Baldwin HS, Shen HM, Stewart CL, Buck C, et al. 1995. Defective development of the embryonic and extraembryonic circulatory systems in vascular cell adhesion molecule (VCAM-1) deficient mice. Development 121:489-503
    • (1995) Development , vol.121 , pp. 489-503
    • Kwee, L.1    Baldwin, H.S.2    Shen, H.M.3    Stewart, C.L.4    Buck, C.5
  • 48
    • 0028168007 scopus 로고
    • Genetic analysis of RXRαdevelopmental function: Convergence ofRXRandRAR signaling pathways in heart and eye morphogenesis
    • Kastner P, Grondona JM, Mark M, Gansmuller A, LeMeurM, et al. 1994. Genetic analysis of RXRαdevelopmental function: convergence ofRXRandRAR signaling pathways in heart and eye morphogenesis. Cell 78:987-1003
    • (1994) Cell , vol.78 , pp. 987-1003
    • Kastner, P.1    Grondona, J.M.2    Mark, M.3    Gansmuller, A.4    LeMeur, M.5
  • 49
    • 0028175195 scopus 로고
    • RXRα mutant mice establish a genetic basis for Vitamin A signaling in heart morphogenesis
    • Sucov HM, Dyson E, Gumeringer CL, Price J, Chien KR, Evans RM. 1994. RXRα mutant mice establish a genetic basis for vitamin A signaling in heart morphogenesis. Genes Dev. 8:1007-18
    • (1994) Genes Dev. , vol.8 , pp. 1007-1018
    • Sucov, H.M.1    Dyson, E.2    Gumeringer, C.L.3    Price, J.4    Chien, K.R.5    Evans, R.M.6
  • 50
    • 0028073019 scopus 로고
    • Function of the retinoic acid receptors (RARs) during development (II). Multiple abnormalities at various stages of organogenesis in RAR double mutants
    • Mendelsohn C, Lohnes D, Decimo D, Lufkin T, LeMeur M, et al. 1994. Function of the retinoic acid receptors (RARs) during development (II). Multiple abnormalities at various stages of organogenesis in RAR double mutants. Development 120:2749-71
    • (1994) Development , vol.120 , pp. 2749-2771
    • Mendelsohn, C.1    Lohnes, D.2    Decimo, D.3    Lufkin, T.4    LeMeur, M.5
  • 51
    • 0031470903 scopus 로고    scopus 로고
    • Vitamin A deficiency and mutations of RXRα, RXRβ and RARα lead to early differentiation of embryonic ventricular cardiomyocytes
    • Kastner P, Messaddeq N, Mark M, Wendling O, Grondona JM, et al. 1997. Vitamin A deficiency and mutations of RXRα, RXRβ and RARα lead to early differentiation of embryonic ventricular cardiomyocytes. Development 124:4749-58
    • (1997) Development , vol.124 , pp. 4749-4758
    • Kastner, P.1    Messaddeq, N.2    Mark, M.3    Wendling, O.4    Grondona, J.M.5
  • 52
    • 0037443954 scopus 로고    scopus 로고
    • Erythropoietin and retinoic acid, secreted from the epicardium, are required for cardiac myocyte proliferation
    • Stuckmann I, Evans S, Lassar AB. 2003. Erythropoietin and retinoic acid, secreted from the epicardium, are required for cardiac myocyte proliferation. Dev. Biol. 255:334-49
    • (2003) Dev. Biol. , vol.255 , pp. 334-349
    • Stuckmann, I.1    Evans, S.2    Lassar, A.B.3
  • 53
    • 78650734178 scopus 로고    scopus 로고
    • Retinoic acid stimulates myocardial expansion by induction of hepatic erythropoietin which activates epicardial Igf2
    • Brade T, Kumar S, Cunningham TJ, Chatzi C, Zhao X, et al. 2011. Retinoic acid stimulates myocardial expansion by induction of hepatic erythropoietin which activates epicardial Igf2. Development 138:139-48
    • (2011) Development , vol.138 , pp. 139-148
    • Brade, T.1    Kumar, S.2    Cunningham, T.J.3    Chatzi, C.4    Zhao, X.5
  • 54
    • 29444451293 scopus 로고    scopus 로고
    • Epicardial retinoid X receptor α is required for myocardial growth and coronary artery formation
    • Merki E, Zamora M, Raya A, Kawakami Y, Wang J, et al. 2005. Epicardial retinoid X receptor α is required for myocardial growth and coronary artery formation. PNAS 102:18455-60
    • (2005) PNAS , vol.102 , pp. 18455-18460
    • Merki, E.1    Zamora, M.2    Raya, A.3    Kawakami, Y.4    Wang, J.5
  • 55
    • 34249043527 scopus 로고    scopus 로고
    • Development of the diaphragm and genetic mouse models of diaphragmatic defects
    • Ackerman KG, Greer JJ. 2007. Development of the diaphragm and genetic mouse models of diaphragmatic defects. Am. J. Med. Genet. C Semin. Med. Genet. 145C:109-16
    • (2007) Am. J. Med. Genet. C Semin. Med. Genet. , vol.145 C , pp. 109-116
    • Ackerman, K.G.1    Greer, J.J.2
  • 56
    • 0032824560 scopus 로고    scopus 로고
    • Inactivation of erythropoietin leads to defects in cardiac morphogenesis
    • Wu H, Lee SH, Gao J, Liu X, Iruela-Arispe ML. 1999. Inactivation of erythropoietin leads to defects in cardiac morphogenesis. Development 126:3597-605
    • (1999) Development , vol.126 , pp. 3597-3605
    • Wu, H.1    Lee, S.H.2    Gao, J.3    Liu, X.4    Iruela-Arispe, M.L.5
  • 57
    • 79955424835 scopus 로고    scopus 로고
    • IGF signaling directs ventricular cardiomyocyte proliferation during embryonic heart development
    • Li P, Cavallero S, Gu Y, Chen THP, Hughes J, et al. 2011. IGF signaling directs ventricular cardiomyocyte proliferation during embryonic heart development. Development 138:1795-805
    • (2011) Development , vol.138 , pp. 1795-1805
    • Li, P.1    Cavallero, S.2    Gu, Y.3    Chen, T.H.P.4    Hughes, J.5
  • 58
    • 11244306331 scopus 로고    scopus 로고
    • Endocardial and epicardial derived FGF signals regulate myocardial proliferation and differentiation in vivo
    • Lavine KJ, Yu K, White AC, Zhang X, Smith C, et al. 2005. Endocardial and epicardial derived FGF signals regulate myocardial proliferation and differentiation in vivo. Dev. Cell 8:85-95
    • (2005) Dev. Cell , vol.8 , pp. 85-95
    • Lavine, K.J.1    Yu, K.2    White, A.C.3    Zhang, X.4    Smith, C.5
  • 60
    • 54549104778 scopus 로고    scopus 로고
    • Fgf16 is required for cardiomyocyte proliferation in the mouse embryonic heart
    • Hotta Y, Sasaki S, KonishiM, Kinoshita H, Kuwahara K, et al. 2008. Fgf16 is required for cardiomyocyte proliferation in the mouse embryonic heart. Dev. Dyn. 237:2947-54
    • (2008) Dev. Dyn. , vol.237 , pp. 2947-2954
    • Hotta, Y.1    Sasaki, S.2    Konishi, M.3    Kinoshita, H.4    Kuwahara, K.5
  • 61
    • 44949241690 scopus 로고    scopus 로고
    • Fgf20 is required for sensory epithelial specification in the developing cochlea
    • Hayashi T, Ray CA, Bermingham-McDonogh O. 2008. Fgf20 is required for sensory epithelial specification in the developing cochlea. J. Neurosci. 28:5991-99
    • (2008) J. Neurosci. , vol.28 , pp. 5991-5999
    • Hayashi, T.1    Ray, C.A.2    Bermingham-McDonogh, O.3
  • 62
    • 33746954594 scopus 로고    scopus 로고
    • Proteolytic cleavage of versican during cardiac cushion morphogenesis
    • Kern CB, TwalWO, Mjaatvedt CH, Fairey SE, Toole BP, et al. 2006. Proteolytic cleavage of versican during cardiac cushion morphogenesis. Dev. Dyn. 235:2238-47
    • (2006) Dev. Dyn. , vol.235 , pp. 2238-2247
    • Kern, C.B.1    Twal, W.O.2    Mjaatvedt, C.H.3    Fairey, S.E.4    Toole, B.P.5
  • 63
    • 0031171366 scopus 로고    scopus 로고
    • A heart segmental defect in the anteriorposterior axis of a transgenic mutant mouse
    • Yamamura H, Zhang M, Markwald RR, Mjaatvedt CH. 1997. A heart segmental defect in the anteriorposterior axis of a transgenic mutant mouse. Dev. Biol. 186:58-72
    • (1997) Dev. Biol. , vol.186 , pp. 58-72
    • Yamamura, H.1    Zhang, M.2    Markwald, R.R.3    Mjaatvedt, C.H.4
  • 64
    • 0032189333 scopus 로고    scopus 로고
    • The Cspg2 gene, disrupted in the hdf mutant, is required for right cardiac chamber and endocardial cushion formation
    • Mjaatvedt CH, Yamamura H, Capehart AA, Turner D, Markwald RR. 1998. The Cspg2 gene, disrupted in the hdf mutant, is required for right cardiac chamber and endocardial cushion formation. Dev. Biol. 202:56-66
    • (1998) Dev. Biol. , vol.202 , pp. 56-66
    • Mjaatvedt, C.H.1    Yamamura, H.2    Capehart, A.A.3    Turner, D.4    Markwald, R.R.5
  • 65
    • 0033847008 scopus 로고    scopus 로고
    • Disruption of hyaluronan synthase-2 abrogates normal cardiac morphogenesis and hyaluronan-mediated transformation of epithelium to mesenchyme
    • Camenisch TD, Spicer AP, Brehm-Gibson T, Biesterfeldt J, Augustine ML, et al. 2000. Disruption of hyaluronan synthase-2 abrogates normal cardiac morphogenesis and hyaluronan-mediated transformation of epithelium to mesenchyme. J. Clin. Investig. 106:349-60
    • (2000) J. Clin. Investig. , vol.106 , pp. 349-360
    • Camenisch, T.D.1    Spicer, A.P.2    Brehm-Gibson, T.3    Biesterfeldt, J.4    Augustine, M.L.5
  • 66
    • 84856222579 scopus 로고    scopus 로고
    • Fibulin-1 is required during cardiac ventricular morphogenesis for versican cleavage, suppression of ErbB2 and Erk1/2 activation, and to attenuate trabecular cardiomyocyte proliferation
    • Cooley MA, Fresco VM, Dorlon ME, Twal WO, Lee NV, et al. 2012. Fibulin-1 is required during cardiac ventricular morphogenesis for versican cleavage, suppression of ErbB2 and Erk1/2 activation, and to attenuate trabecular cardiomyocyte proliferation. Dev. Dyn. 241:303-14
    • (2012) Dev. Dyn. , vol.241 , pp. 303-314
    • Cooley, M.A.1    Fresco, V.M.2    Dorlon, M.E.3    Twal, W.O.4    Lee, N.V.5
  • 67
    • 38849156394 scopus 로고    scopus 로고
    • Endocardial Brg1 represses ADAMTS1 to maintain the microenvironment for myocardial morphogenesis
    • Stankunas K,Hang CT, Tsun ZY, Chen H, LeeNV, et al. 2008. Endocardial Brg1 represses ADAMTS1 to maintain the microenvironment for myocardial morphogenesis. Dev. Cell 14:298-311
    • (2008) Dev. Cell , vol.14 , pp. 298-311
    • Stankunas, K.1    Hang, C.T.2    Tsun, Z.Y.3    Chen, H.4    Lee, N.V.5
  • 69
    • 59649110883 scopus 로고    scopus 로고
    • Cardiac fibroblasts regulatemyocardial proliferation through β1 integrin signaling
    • Ieda M, TsuchihashiT, IveyKN,RossRS,HongT-T, et al. 2009. Cardiac fibroblasts regulatemyocardial proliferation through β1 integrin signaling. Dev. Cell 16:233-44
    • (2009) Dev. Cell , vol.16 , pp. 233-244
    • Ieda, M.1    Tsuchihashi, T.2    Ivey, K.N.3    Ross, R.S.4    Hong, T.-T.5
  • 70
    • 66949126859 scopus 로고    scopus 로고
    • Transient expression of FRNK reveals stage-specific requirement for focal adhesion kinase activity in cardiac growth
    • DiMichele LA, Hakim ZS, Sayers RL, Rojas M, Schwartz RJ, et al. 2009. Transient expression of FRNK reveals stage-specific requirement for focal adhesion kinase activity in cardiac growth. Circ. Res. 104:1201-8
    • (2009) Circ. Res. , vol.104 , pp. 1201-1208
    • DiMichele, L.A.1    Hakim, Z.S.2    Sayers, R.L.3    Rojas, M.4    Schwartz, R.J.5
  • 71
    • 44349136151 scopus 로고    scopus 로고
    • Cardiac developmental defects and eccentric right ventricular hypertrophy in cardiomyocyte focal adhesion kinase (FAK) conditional knockout mice
    • Peng X, Wu X, Druso JE, Wei H, Park AY-J, et al. 2008. Cardiac developmental defects and eccentric right ventricular hypertrophy in cardiomyocyte focal adhesion kinase (FAK) conditional knockout mice. PNAS 105:6638-43
    • (2008) PNAS , vol.105 , pp. 6638-6643
    • Peng, X.1    Wu, X.2    Druso, J.E.3    Wei, H.4    Ay-J, P.5
  • 72
    • 77951837150 scopus 로고    scopus 로고
    • TheHippo-YAP pathway in organ size control and tumorigenesis: An updated version
    • Zhao B, Li L, LeiQ,Guan KL. 2010. TheHippo-YAP pathway in organ size control and tumorigenesis: An updated version. Genes Dev. 24:862-74
    • (2010) Genes Dev. , vol.24 , pp. 862-874
    • Zhao, B.1    Li, L.2    Lei, Q.3    Guan, K.L.4
  • 73
    • 84857136357 scopus 로고    scopus 로고
    • YAP1, the nuclear target of Hippo signaling, stimulates heart growth through cardiomyocyte proliferation but not hypertrophy
    • von Gise A, Lin Z, Schlegelmilch K, Honor LB, Pan GM, et al. 2012. YAP1, the nuclear target of Hippo signaling, stimulates heart growth through cardiomyocyte proliferation but not hypertrophy. PNAS 109:2394-99
    • (2012) PNAS , vol.109 , pp. 2394-2399
    • Von Gise, A.1    Lin, Z.2    Schlegelmilch, K.3    Honor, L.B.4    Pan, G.M.5
  • 74
    • 78049442656 scopus 로고    scopus 로고
    • NKX2-5: An update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD)
    • Reamon-Buettner SM, Borlak J. 2010. NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD). Hum. Mutat. 31:1185-94
    • (2010) Hum. Mutat. , vol.31 , pp. 1185-1194
    • Reamon-Buettner, S.M.1    Borlak, J.2
  • 75
    • 84925969711 scopus 로고    scopus 로고
    • A mouse model of human congenital heart disease: High incidence of diverse cardiac anomalies and ventricular noncompaction produced by heterozygous Nkx2-5 homeodomain missense mutation
    • Ashraf H, Pradhan L, Chang EI, Terada R, Ryan NJ, et al. 2014. A mouse model of human congenital heart disease: high incidence of diverse cardiac anomalies and ventricular noncompaction produced by heterozygous Nkx2-5 homeodomain missense mutation. Circ. Cardiovasc. Genet. 7:423-33
    • (2014) Circ. Cardiovasc. Genet. , vol.7 , pp. 423-433
    • Ashraf, H.1    Pradhan, L.2    Chang, E.I.3    Terada, R.4    Ryan, N.J.5
  • 76
    • 78650511336 scopus 로고    scopus 로고
    • A de novo mutation in NKX2. 5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death
    • Ouyang P, Saarel E, Bai Y, Luo C, Lv Q, et al. 2011. A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death. Clin. Chim. Acta 412:170-75
    • (2011) Clin. Chim. Acta , vol.412 , pp. 170-175
    • Ouyang, P.1    Saarel, E.2    Bai, Y.3    Luo, C.4    Lv, Q.5
  • 77
    • 0034705318 scopus 로고    scopus 로고
    • FOG-2, a cofactor for GATA transcription factors, is essential for heart morphogenesis and development of coronary vessels from epicardium
    • Tevosian SG, Deconinck AE, Tanaka M, Schinke M, Litovsky SH, et al. 2000. FOG-2, a cofactor for GATA transcription factors, is essential for heart morphogenesis and development of coronary vessels from epicardium. Cell 101:729-39
    • (2000) Cell , vol.101 , pp. 729-739
    • Tevosian, S.G.1    Deconinck, A.E.2    Tanaka, M.3    Schinke, M.4    Litovsky, S.H.5
  • 78
    • 0033945862 scopus 로고    scopus 로고
    • A syndrome of tricuspid atresia in mice with a targeted mutation of the gene encoding Fog-2
    • Svensson EC, Huggins GS, Lin H, Clendenin C, Jiang F, et al. 2000. A syndrome of tricuspid atresia in mice with a targeted mutation of the gene encoding Fog-2. Nat. Genet. 25:353-56
    • (2000) Nat. Genet. , vol.25 , pp. 353-356
    • Svensson, E.C.1    Huggins, G.S.2    Lin, H.3    Clendenin, C.4    Jiang, F.5
  • 79
    • 67651005839 scopus 로고    scopus 로고
    • Fog2 is critical for cardiac function and maintenance of coronary vasculature in the adult mouse heart
    • Zhou B, Ma Q, Kong SW, Hu Y, Campbell PH, et al. 2009. Fog2 is critical for cardiac function and maintenance of coronary vasculature in the adult mouse heart. J. Clin. Investig. 119:1462-76
    • (2009) J. Clin. Investig. , vol.119 , pp. 1462-1476
    • Zhou, B.1    Ma, Q.2    Kong, S.W.3    Hu, Y.4    Campbell, P.H.5
  • 80
    • 84907499575 scopus 로고    scopus 로고
    • FOG-2 mediated recruitment of the NuRD complex regulates cardiomyocyte proliferation during heart development
    • Garnatz AS, Gao Z, Broman M, Martens S, Earley JU, Svensson EC. 2014. FOG-2 mediated recruitment of the NuRD complex regulates cardiomyocyte proliferation during heart development. Dev. Biol. 395:50-61
    • (2014) Dev. Biol. , vol.395 , pp. 50-61
    • Garnatz, A.S.1    Gao, Z.2    Broman, M.3    Martens, S.4    Earley, J.U.5    Svensson, E.C.6
  • 81
    • 79959698001 scopus 로고    scopus 로고
    • Gene expression regulation through 14-3-3 interactions with histones and HDACs
    • Healy S, Khan DH, Davie JR. 2011. Gene expression regulation through 14-3-3 interactions with histones and HDACs. Discov. Med. 11:349-58
    • (2011) Discov. Med. , vol.11 , pp. 349-358
    • Healy, S.1    Khan, D.H.2    Davie, J.R.3
  • 82
    • 84871908867 scopus 로고    scopus 로고
    • 14-3-3ϵplays a role in cardiac ventricular compaction by regulating the cardiomyocyte cell cycle
    • Kosaka Y, Cieslik KA, Li L, Lezin G, Maguire CT, et al. 2012. 14-3-3ϵplays a role in cardiac ventricular compaction by regulating the cardiomyocyte cell cycle. Mol. Cell. Biol. 32:5089-102
    • (2012) Mol. Cell. Biol. , vol.32 , pp. 5089-5102
    • Kosaka, Y.1    Cieslik, K.A.2    Li, L.3    Lezin, G.4    Maguire, C.T.5
  • 83
    • 6944232153 scopus 로고    scopus 로고
    • Foxp1 regulates cardiac outflow tract, endocardial cushionmorphogenesis andmyocyte proliferation and maturation
    • Wang B, Weidenfeld J, Lu MM, Maika S, KuzielWA, et al. 2004. Foxp1 regulates cardiac outflow tract, endocardial cushionmorphogenesis andmyocyte proliferation and maturation. Development 131:4477-87
    • (2004) Development , vol.131 , pp. 4477-4487
    • Wang, B.1    Weidenfeld, J.2    Lu, M.M.3    Maika, S.4    Kuziel, W.A.5
  • 84
    • 0035966322 scopus 로고    scopus 로고
    • Wnt/Frizzled activation of Rho regulates vertebrate gastrulation and requires a novel Formin homology protein Daam1
    • Habas R, Kato Y, He X. 2001. Wnt/Frizzled activation of Rho regulates vertebrate gastrulation and requires a novel Formin homology protein Daam1. Cell 107:843-54
    • (2001) Cell , vol.107 , pp. 843-854
    • Habas, R.1    Kato, Y.2    He, X.3
  • 85
    • 78751534204 scopus 로고    scopus 로고
    • Dishevelled-associated activator of morphogenesis 1 (Daam1) is required for heart morphogenesis
    • Li D, Hallett MA, Zhu W, Rubart M, Liu Y, et al. 2010. Dishevelled-associated activator of morphogenesis 1 (Daam1) is required for heart morphogenesis. Development 138:303-15
    • (2010) Development , vol.138 , pp. 303-315
    • Li, D.1    Hallett, M.A.2    Zhu, W.3    Rubart, M.4    Liu, Y.5
  • 87
    • 0035895276 scopus 로고    scopus 로고
    • Extreme hydrops fetalis and cardiovascular abnormalities in mice lacking a functional Adrenomedullin gene
    • Caron KM, Smithies O. 2001. Extreme hydrops fetalis and cardiovascular abnormalities in mice lacking a functional Adrenomedullin gene. PNAS 98:615-19
    • (2001) PNAS , vol.98 , pp. 615-619
    • Caron, K.M.1    Smithies, O.2
  • 88
    • 33645230587 scopus 로고    scopus 로고
    • Hydrops fetalis, cardiovascular defects, and embryonic lethality inmice lacking the calcitonin receptor-like receptor gene
    • Dackor RT, Fritz-Six K, Dunworth WP, Gibbons CL, Smithies O, Caron KM. 2006. Hydrops fetalis, cardiovascular defects, and embryonic lethality inmice lacking the calcitonin receptor-like receptor gene. Mol. Cell. Biol. 26:2511-18
    • (2006) Mol. Cell. Biol. , vol.26 , pp. 2511-2518
    • Dackor, R.T.1    Fritz-Six, K.2    Dunworth, W.P.3    Gibbons, C.L.4    Smithies, O.5    Caron, K.M.6
  • 89
    • 84908656094 scopus 로고    scopus 로고
    • Decoy receptor CXCR7 modulates adrenomedullin-mediated cardiac and lymphatic vascular development
    • Klein KR, KarpinichNO,Espenschied ST,WillcocksonHH,DunworthWP,et al. 2014. Decoy receptor CXCR7 modulates adrenomedullin-mediated cardiac and lymphatic vascular development. Dev. Cell 30:528-40
    • (2014) Dev. Cell , vol.30 , pp. 528-540
    • Klein, K.R.1    Karpinich, N.O.2    Espenschied, S.T.3    Willcockson, H.H.4    Dunworth, W.P.5
  • 90
    • 80051884472 scopus 로고    scopus 로고
    • Regional thicknesses and thickening of compacted and trabeculated myocardial layers of the normal left ventricle studied by cardiovascular magnetic resonance
    • Dawson DK, Maceira AM, Raj VJ, Graham C, Pennell DJ, Kilner PJ. 2011. Regional thicknesses and thickening of compacted and trabeculated myocardial layers of the normal left ventricle studied by cardiovascular magnetic resonance. Circ. Cardiovasc. Imaging 4:139-46
    • (2011) Circ. Cardiovasc. Imaging , vol.4 , pp. 139-146
    • Dawson, D.K.1    Maceira, A.M.2    Raj, V.J.3    Graham, C.4    Pennell, D.J.5    Kilner, P.J.6
  • 91
    • 84909588138 scopus 로고    scopus 로고
    • Characteristics of trabeculated myocardium burden in young and apparently healthy adults
    • Tizon-Marcos H, de la Paz Ricapito M, Pibarot P, Bertrand O, Bibeau K, et al. 2014. Characteristics of trabeculated myocardium burden in young and apparently healthy adults. Am. J. Cardiol. 114:1094-99
    • (2014) Am. J. Cardiol. , vol.114 , pp. 1094-1099
    • Tizon-Marcos, H.1    De La Paz, R.M.2    Pibarot, P.3    Bertrand, O.4    Bibeau, K.5
  • 92
    • 0041821469 scopus 로고    scopus 로고
    • Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients
    • Sasse-Klaassen S, Gerull B, Oechslin E, Jenni R, Thierfelder L. 2003. Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients. Am. J. Med. Genet. A 119A:162-67
    • (2003) Am. J. Med. Genet. A , vol.119 A , pp. 162-167
    • Sasse-Klaassen, S.1    Gerull, B.2    Oechslin, E.3    Jenni, R.4    Thierfelder, L.5
  • 94
    • 84897547365 scopus 로고    scopus 로고
    • Genetic profiling for risk reduction in human cardiovascular disease
    • Puckelwartz MJ, McNally EM. 2014. Genetic profiling for risk reduction in human cardiovascular disease. Genes (Basel) 5:214-34
    • (2014) Genes (Basel) , vol.5 , pp. 214-234
    • Puckelwartz, M.J.1    McNally, E.M.2
  • 96
    • 84879001958 scopus 로고    scopus 로고
    • De novo mutations in histone-modifying genes in congenital heart disease
    • Zaidi S, ChoiM,WakimotoH,Ma L, Jiang J, et al. 2013. De novo mutations in histone-modifying genes in congenital heart disease. Nature 498:220-23
    • (2013) Nature , vol.498 , pp. 220-223
    • Zaidi, S.1    Choi, M.2    Wakimoto, H.3    Ma, L.4    Jiang, J.5
  • 97
    • 36248976450 scopus 로고    scopus 로고
    • Cardiac β-myosin heavy chain defects in two families with non-compaction cardiomyopathy: Linking noncompaction to hypertrophic, restrictive, and dilated cardiomyopathies
    • Hoedemaekers YM, Caliskan K, Majoor-Krakauer D, van de Laar I, Michels M, et al. 2007. Cardiac β-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking noncompaction to hypertrophic, restrictive, and dilated cardiomyopathies. Eur. Heart J. 28:2732-37
    • (2007) Eur. Heart J. , vol.28 , pp. 2732-2737
    • Hoedemaekers, Y.M.1    Caliskan, K.2    Majoor-Krakauer, D.3    Van De Laar, I.4    Michels, M.5
  • 98
    • 44449159866 scopus 로고    scopus 로고
    • Noncompaction of the ventricular myocardium is associated with a de novo mutation in the β-myosin heavy chain gene
    • Budde BS, Binner P, Waldmuller S, Hohne W, Blankenfeldt W, et al. 2007. Noncompaction of the ventricular myocardium is associated with a de novo mutation in the β-myosin heavy chain gene. PLOS ONE 2:e1362
    • (2007) PLOS ONE , vol.2 , pp. e1362
    • Budde, B.S.1    Binner, P.2    Waldmuller, S.3    Hohne, W.4    Blankenfeldt, W.5
  • 99
    • 44649118695 scopus 로고    scopus 로고
    • Mutations in sarcomere protein genes in left ventricular noncompaction
    • Klaassen S, Probst S, Oechslin E, Gerull B, Krings G, et al. 2008. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation 117:2893-901
    • (2008) Circulation , vol.117 , pp. 2893-2901
    • Klaassen, S.1    Probst, S.2    Oechslin, E.3    Gerull, B.4    Krings, G.5
  • 101
    • 84925751454 scopus 로고    scopus 로고
    • Novel mutation in exon 14 of the sarcomere geneMYH7in familial left ventricular noncompactionwith bicuspid aortic valve
    • Basu R, Hazra S, ShanksM, Paterson DI, Oudit GY. 2014. Novel mutation in exon 14 of the sarcomere geneMYH7in familial left ventricular noncompactionwith bicuspid aortic valve. Circ.Heart Fail. 7:1059-62
    • (2014) Circ.Heart Fail. , vol.7 , pp. 1059-1062
    • Basu, R.1    Hazra, S.2    Shanks, M.3    Paterson, D.I.4    Oudit, G.Y.5
  • 102
    • 84899567573 scopus 로고    scopus 로고
    • Novel MYH7 mutation associated with mild myopathy but life-threatening ventricular arrhythmias and noncompaction
    • Finsterer J, Stollberger C, Brandau O, Laccone F, Bichler K, Laing NG. 2014. Novel MYH7 mutation associated with mild myopathy but life-threatening ventricular arrhythmias and noncompaction. Int. J. Cardiol. 173:532-35
    • (2014) Int. J. Cardiol. , vol.173 , pp. 532-535
    • Finsterer, J.1    Stollberger, C.2    Brandau, O.3    Laccone, F.4    Bichler, K.5    Laing, N.G.6
  • 103
    • 84910127803 scopus 로고    scopus 로고
    • Familial Ebstein's anomaly, left ventricular noncompaction, and ventricular septal defect associated with an MYH7 mutation
    • Hirono K, Hata Y, Ibuki K, Yoshimura N. 2014. Familial Ebstein's anomaly, left ventricular noncompaction, and ventricular septal defect associated with an MYH7 mutation. J. Thorac. Cardiovasc. Surg. 148:e223-26
    • (2014) J. Thorac. Cardiovasc. Surg. , vol.148 , pp. e223-e226
    • Hirono, K.1    Hata, Y.2    Ibuki, K.3    Yoshimura, N.4
  • 104
    • 84920414923 scopus 로고    scopus 로고
    • A novel MYH7 gene mutation in a fetus with left ventricular noncompaction
    • Nomura Y, Momoi N, Hirono K, Hata Y, Takasaki A, et al. 2015. A novel MYH7 gene mutation in a fetus with left ventricular noncompaction. Can. J. Cardiol. 31:103 e1-3
    • (2015) Can. J. Cardiol. , vol.31 , pp. 103e1-103e3
    • Nomura, Y.1    Momoi, N.2    Hirono, K.3    Hata, Y.4    Takasaki, A.5
  • 105
    • 84923384877 scopus 로고    scopus 로고
    • Whole-exome sequencing identify a new mutation of MYH7 in a Chinese family with left ventricular noncompaction
    • Yang J, ZhuM,Wang Y, Hou X, Wu H, et al. 2015. Whole-exome sequencing identify a new mutation of MYH7 in a Chinese family with left ventricular noncompaction. Gene 558:138-42
    • (2015) Gene , vol.558 , pp. 138-142
    • Yang, J.1    Zhu, M.2    Wang, Y.3    Hou, X.4    Wu, H.5
  • 107
    • 33745027953 scopus 로고    scopus 로고
    • Ablation of cardiac myosin-binding protein-C accelerates stretch activation in murine skinned myocardium
    • Stelzer JE, Dunning SB, Moss RL. 2006. Ablation of cardiac myosin-binding protein-C accelerates stretch activation in murine skinned myocardium. Circ. Res. 98:1212-18
    • (2006) Circ. Res. , vol.98 , pp. 1212-1218
    • Stelzer, J.E.1    Dunning, S.B.2    Moss, R.L.3
  • 108
    • 80052752591 scopus 로고    scopus 로고
    • Sarcomere genemutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype
    • Probst S,Oechslin E, Schuler P,Greutmann M, Boye P, et al. 2011. Sarcomere genemutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. Circ. Cardiovasc. Genet. 4:367-74
    • (2011) Circ. Cardiovasc. Genet. , vol.4 , pp. 367-374
    • Probst, S.1    Oechslin, E.2    Schuler, P.3    Greutmann, M.4    Boye, P.5
  • 109
    • 84898484342 scopus 로고    scopus 로고
    • Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene
    • Schaefer E, Helms P,Marcellin L, Desprez P, Billaud P, et al. 2014. Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene. Eur. J. Med. Genet. 57:129-32
    • (2014) Eur. J. Med. Genet. , vol.57 , pp. 129-132
    • Schaefer, E.1    Helms, P.2    Marcellin, L.3    Desprez, P.4    Billaud, P.5
  • 110
    • 84930866020 scopus 로고    scopus 로고
    • Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects
    • Wessels MW, Herkert JC, Frohn-Mulder IM, Dalinghaus M, van denWijngaard A, et al. 2014. Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects. Eur. J. Hum. Genet. 23:922-28
    • (2014) Eur. J. Hum. Genet. , vol.23 , pp. 922-928
    • Wessels, M.W.1    Herkert, J.C.2    Frohn-Mulder, I.M.3    Dalinghaus, M.4    Van Denwijngaard, A.5
  • 111
    • 52649148056 scopus 로고    scopus 로고
    • Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish
    • Zahka K, Kalidas K, Simpson MA, Cross H, Keller BB, et al. 2008. Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish. Heart 94:1326-30
    • (2008) Heart , vol.94 , pp. 1326-1330
    • Zahka, K.1    Kalidas, K.2    Simpson, M.A.3    Cross, H.4    Keller, B.B.5
  • 113
    • 35348907453 scopus 로고    scopus 로고
    • Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular noncompaction, and septal defects
    • Monserrat L, Hermida-Prieto M, Fernandez X, Rodriguez I, Dumont C, et al. 2007. Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular noncompaction, and septal defects. Eur. Heart J. 28:1953-61
    • (2007) Eur. Heart J. , vol.28 , pp. 1953-1961
    • Monserrat, L.1    Hermida-Prieto, M.2    Fernandez, X.3    Rodriguez, I.4    Dumont, C.5
  • 114
    • 77951557843 scopus 로고    scopus 로고
    • Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2)mutation
    • Luedde M, Ehlermann P, Weichenhan D, Will R, Zeller R, et al. 2010. Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2)mutation. Cardiovasc. Res. 86:452-60
    • (2010) Cardiovasc. Res. , vol.86 , pp. 452-460
    • Luedde, M.1    Ehlermann, P.2    Weichenhan, D.3    Will, R.4    Zeller, R.5
  • 115
    • 84908130119 scopus 로고    scopus 로고
    • Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death
    • Bagnall RD, Molloy LK, Kalman JM, Semsarian C. 2014. Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death. BMC Med. Genet. 15:99
    • (2014) BMC Med. Genet. , vol.15 , pp. 99
    • Bagnall, R.D.1    Molloy, L.K.2    Kalman, J.M.3    Semsarian, C.4
  • 116
    • 8144224216 scopus 로고    scopus 로고
    • Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy
    • Mogensen J, Murphy RT, Shaw T, Bahl A, Redwood C, et al. 2004. Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J. Am. Coll. Cardiol. 44:2033-40
    • (2004) J. Am. Coll. Cardiol. , vol.44 , pp. 2033-2040
    • Mogensen, J.1    Murphy, R.T.2    Shaw, T.3    Bahl, A.4    Redwood, C.5
  • 117
    • 84908180993 scopus 로고    scopus 로고
    • Essential role of the zinc finger transcription factor Casz1 for mammalian cardiac morphogenesis and development
    • Liu Z, LiW,Ma X, Ding N, Spallotta F, et al. 2014. Essential role of the zinc finger transcription factor Casz1 for mammalian cardiac morphogenesis and development. J. Biol. Chem. 289:29801-16
    • (2014) J. Biol. Chem. , vol.289 , pp. 29801-29816
    • Liu, Z.1    Li, W.2    Ma, X.3    Ding, N.4    Spallotta, F.5
  • 118
    • 84872047539 scopus 로고    scopus 로고
    • Loss of function of hNav1.5 by a ZASP1 mutation associated with intraventricular conduction disturbances in left ventricular noncompaction
    • Xi Y, Ai T, De Lange E, Li Z,WuG, et al. 2012. Loss of function of hNav1.5 by a ZASP1 mutation associated with intraventricular conduction disturbances in left ventricular noncompaction. Circ. Arrhythm. Electrophysiol. 5:1017-26
    • (2012) Circ. Arrhythm. Electrophysiol. , vol.5 , pp. 1017-1026
    • Xi, Y.1    Ai, T.2    De Lange, E.3    Li, Z.4    Wu, G.5
  • 119
    • 0344873698 scopus 로고    scopus 로고
    • Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction
    • Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, et al. 2003. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J. Am. Coll. Cardiol. 42:2014-27
    • (2003) J. Am. Coll. Cardiol. , vol.42 , pp. 2014-2027
    • Vatta, M.1    Mohapatra, B.2    Jimenez, S.3    Sanchez, X.4    Faulkner, G.5
  • 120
    • 84924110084 scopus 로고    scopus 로고
    • Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy
    • Zhou Q, Chu PH, Huang C, Cheng CF, Martone ME, et al. 2001. Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy. J. Cell Biol. 155:605-12
    • (2001) J. Cell Biol. , vol.155 , pp. 605-612
    • Zhou, Q.1    Chu, P.H.2    Huang, C.3    Cheng, C.F.4    Martone, M.E.5
  • 121
    • 0035814967 scopus 로고    scopus 로고
    • Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome
    • Ichida F, Tsubata S, Bowles KR, Haneda N, Uese K, et al. 2001. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation 103:1256-63
    • (2001) Circulation , vol.103 , pp. 1256-1263
    • Ichida, F.1    Tsubata, S.2    Bowles, K.R.3    Haneda, N.4    Uese, K.5
  • 122
    • 2542486394 scopus 로고    scopus 로고
    • Isolated left ventricular noncompaction is rarely caused by mutations in G4. 5, alpha-dystrobrevin and FK Binding Protein-12
    • Kenton AB, Sanchez X, Coveler KJ, Makar KA, Jimenez S, et al. 2004. Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK Binding Protein-12. Mol. Genet. Metab. 82:162-66
    • (2004) Mol. Genet. Metab. , vol.82 , pp. 162-166
    • Kenton, A.B.1    Sanchez, X.2    Coveler, K.J.3    Makar, K.A.4    Jimenez, S.5
  • 123
    • 84874486786 scopus 로고    scopus 로고
    • Tafazzin knockdown in mice leads to a developmental cardiomyopathy with early diastolic dysfunction preceding myocardial noncompaction
    • Phoon CK, Acehan D, SchlameM, Stokes DL, Edelman-Novemsky I, et al. 2012. Tafazzin knockdown in mice leads to a developmental cardiomyopathy with early diastolic dysfunction preceding myocardial noncompaction. J. Am. Heart Assoc. 1: e000455
    • (2012) J. Am. Heart Assoc. , vol.1 , pp. e000455
    • Phoon, C.K.1    Acehan, D.2    Schlame, M.3    Stokes, D.L.4    Edelman-Novemsky, I.5
  • 124
    • 84907951338 scopus 로고    scopus 로고
    • HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy
    • Milano A, Vermeer AM, Lodder EM, Barc J, Verkerk AO, et al. 2014. HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy. J. Am. Coll. Cardiol. 64:745-56
    • (2014) J. Am. Coll. Cardiol. , vol.64 , pp. 745-756
    • Milano, A.1    Vermeer, A.M.2    Lodder, E.M.3    Barc, J.4    Verkerk, A.O.5
  • 125
    • 84907951730 scopus 로고    scopus 로고
    • The symptom complex of familial sinus node dysfunction and myocardial noncompaction is associated with mutations in theHCN4 channel
    • Schweizer PA, Schroter J, Greiner S, Haas J, Yampolsky P, et al. 2014. The symptom complex of familial sinus node dysfunction and myocardial noncompaction is associated with mutations in theHCN4 channel. J. Am. Coll. Cardiol. 64:757-67
    • (2014) J. Am. Coll. Cardiol. , vol.64 , pp. 757-767
    • Schweizer, P.A.1    Schroter, J.2    Greiner, S.3    Haas, J.4    Yampolsky, P.5
  • 126
    • 84891669878 scopus 로고    scopus 로고
    • Overlapping syndromes in laminopathies: A meta-analysis of the reported literature
    • Carboni N, Politano L, Floris M, Mateddu A, Solla E, et al. 2013. Overlapping syndromes in laminopathies: A meta-analysis of the reported literature. Acta Myol. 32:7-17
    • (2013) Acta Myol. , vol.32 , pp. 7-17
    • Carboni, N.1    Politano, L.2    Floris, M.3    Mateddu, A.4    Solla, E.5
  • 127
    • 84876868694 scopus 로고    scopus 로고
    • Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies
    • Bonne G, Quijano-Roy S. 2013. Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. Handb. Clin. Neurol. 113:1367-76
    • (2013) Handb. Clin. Neurol. , vol.113 , pp. 1367-1376
    • Bonne, G.1    Quijano-Roy, S.2
  • 128
    • 78650780703 scopus 로고    scopus 로고
    • Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation
    • Mewborn SK, Puckelwartz MJ, Abuisneineh F, Fahrenbach JP, Zhang Y, et al. 2010. Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation. PLOS ONE 5:e14342
    • (2010) PLOS ONE , vol.5 , pp. e14342
    • Mewborn, S.K.1    Puckelwartz, M.J.2    Abuisneineh, F.3    Fahrenbach, J.P.4    Zhang, Y.5
  • 129
    • 3042519038 scopus 로고    scopus 로고
    • Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations
    • Hermida-Prieto M, Monserrat L, Castro-Beiras A, Laredo R, Soler R, et al. 2004. Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. Am. J. Cardiol. 94:50-54
    • (2004) Am. J. Cardiol. , vol.94 , pp. 50-54
    • Hermida-Prieto, M.1    Monserrat, L.2    Castro-Beiras, A.3    Laredo, R.4    Soler, R.5
  • 130
    • 19944431159 scopus 로고    scopus 로고
    • Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: Do lamin A/C mutations portend a high risk of sudden death?
    • van Berlo JH, de Voogt WG, van der Kooi AJ, van Tintelen JP, Bonne G, et al. 2005. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: Do lamin A/C mutations portend a high risk of sudden death? J. Mol. Med. (Berl.) 83:79-83
    • (2005) J. Mol. Med. (Berl.) , vol.83 , pp. 79-83
    • Van Berlo, J.H.1    De Voogt, W.G.2    Van Der Kooi, A.J.3    Van Tintelen, J.P.4    Bonne, G.5
  • 131
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, et al. 2010. A map of human genome variation from population-scale sequencing. Nature 467:1061-73
    • (2010) Nature , vol.467 , pp. 1061-1073
    • Abecasis, G.R.1    Altshuler, D.2    Auton, A.3    Brooks, L.D.4    Durbin, R.M.5
  • 132
    • 84863556835 scopus 로고    scopus 로고
    • Evolution and functional impact of rare coding variation from deep sequencing of human exomes
    • Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, et al. 2012. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 337:64-69
    • (2012) Science , vol.337 , pp. 64-69
    • Tennessen, J.A.1    Bigham, A.W.2    O'Connor, T.D.3    Fu, W.4    Kenny, E.E.5
  • 133
    • 84863149111 scopus 로고    scopus 로고
    • Epigenetics and cardiovascular development
    • ChangCP, Bruneau BG. 2012. Epigenetics and cardiovascular development. Annu. Rev. Physiol. 74:41-68
    • (2012) Annu. Rev. Physiol. , vol.74 , pp. 41-68
    • Chang, C.P.1    Bruneau, B.G.2
  • 134
    • 59449098322 scopus 로고    scopus 로고
    • A jumonji ( Jarid2) protein complex represses cyclin D1 expression by methylation of histone H3-K9
    • Shirato H, Ogawa S, Nakajima K, InagawaM, KojimaM, et al. 2009. A jumonji ( Jarid2) protein complex represses cyclin D1 expression by methylation of histone H3-K9. J. Biol. Chem. 284:733-39
    • (2009) J. Biol. Chem. , vol.284 , pp. 733-739
    • Shirato, H.1    Ogawa, S.2    Nakajima, K.3    Inagawa, M.4    Kojima, M.5
  • 135
  • 136
    • 0038010027 scopus 로고    scopus 로고
    • Jumonji downregulates cardiac cell proliferation by repressing cyclin D1 expression
    • Toyoda M, Shirato H, Nakajima K, Kojima M, TakahashiM, et al. 2003. jumonji downregulates cardiac cell proliferation by repressing cyclin D1 expression. Dev. Cell 5:85-97
    • (2003) Dev. Cell , vol.5 , pp. 85-97
    • Toyoda, M.1    Shirato, H.2    Nakajima, K.3    Kojima, M.4    Takahashi, M.5
  • 137
    • 79955754376 scopus 로고    scopus 로고
    • Endothelial Jarid2/Jumonji is required for normal cardiac development and proper Notch1 expression
    • Mysliwiec MR, Bresnick EH, Lee Y. 2011. Endothelial Jarid2/Jumonji is required for normal cardiac development and proper Notch1 expression. J. Biol. Chem. 286:17193-204
    • (2011) J. Biol. Chem. , vol.286 , pp. 17193-17204
    • Mysliwiec, M.R.1    Bresnick, E.H.2    Lee, Y.3
  • 138
    • 84892148430 scopus 로고    scopus 로고
    • Molecular pathways: SWI/SNF (BAF) complexes are frequently mutated in cancer-mechanisms and potential therapeutic insights
    • Wang X, Haswell JR, Roberts CW. 2014. Molecular pathways: SWI/SNF (BAF) complexes are frequently mutated in cancer-mechanisms and potential therapeutic insights. Clin. Cancer Res. 20:21-27
    • (2014) Clin. Cancer Res. , vol.20 , pp. 21-27
    • Wang, X.1    Haswell, J.R.2    Roberts, C.W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.