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Volumn 64, Issue 8, 2014, Pages 832-839

A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: Insights from the international BAVCon (bicuspid aortic valve consortium)

Author keywords

bicuspid; consortium; roadmap; valve

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1; NOTCH1 RECEPTOR; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2;

EID: 84907952707     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2014.04.073     Document Type: Review
Times cited : (158)

References (65)
  • 3
    • 84863683022 scopus 로고    scopus 로고
    • Genetic insights into bicuspid aortic valve formation
    • B. Laforest, and M. Nemer Genetic insights into bicuspid aortic valve formation Cardiol Res Pract 2012 2012 180297
    • (2012) Cardiol Res Pract , vol.2012 , pp. 180297
    • Laforest, B.1    Nemer, M.2
  • 4
    • 84896515091 scopus 로고    scopus 로고
    • Dissection of the aorta in Turner syndrome: Two cases and review of 85 cases in the literature
    • bcr0620091998
    • M. Carlson, and M. Silberbach Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature BMJ Case Rep 2009 2009 bcr0620091998
    • (2009) BMJ Case Rep , vol.2009
    • Carlson, M.1    Silberbach, M.2
  • 5
    • 83755188386 scopus 로고    scopus 로고
    • Hypoplastic left heart syndrome and other left heart disease: Evolution of understanding from population-based analysis to molecular biology and back again - A brief overview
    • J.I. Brenner, and K. Kuehl Hypoplastic left heart syndrome and other left heart disease: evolution of understanding from population-based analysis to molecular biology and back again - a brief overview Cardiol Young 21 Suppl 2 2011 23 27
    • (2011) Cardiol Young , vol.21 , Issue.SUPPL. 2 , pp. 23-27
    • Brenner, J.I.1    Kuehl, K.2
  • 8
    • 57149113759 scopus 로고    scopus 로고
    • The presence of bicuspid aortic valve does not predict ventricular septal defect type
    • K.N. Hor, W.L. Border, L.H. Cripe, D.W. Benson, and R.B. Hinton The presence of bicuspid aortic valve does not predict ventricular septal defect type Am J Med Genet A 146A 2008 3202 3205
    • (2008) Am J Med Genet A , vol.146 A , pp. 3202-3205
    • Hor, K.N.1    Border, W.L.2    Cripe, L.H.3    Benson, D.W.4    Hinton, R.B.5
  • 9
    • 61949160625 scopus 로고    scopus 로고
    • Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve
    • R.B. Hinton, L.J. Martin, S. Rame-Gowda, M.E. Tabangin, L.H. Cripe, and D.W. Benson Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve J Am Coll Cardiol 53 2009 1065 1071
    • (2009) J Am Coll Cardiol , vol.53 , pp. 1065-1071
    • Hinton, R.B.1    Martin, L.J.2    Rame-Gowda, S.3    Tabangin, M.E.4    Cripe, L.H.5    Benson, D.W.6
  • 10
    • 84055191016 scopus 로고    scopus 로고
    • Left ventricular hypoplasia: A spectrum of disease involving the left ventricular outflow tract, aortic valve, and aorta
    • E.J. Hickey, C.A. Caldarone, and B.W. McCrindle Left ventricular hypoplasia: a spectrum of disease involving the left ventricular outflow tract, aortic valve, and aorta J Am Coll Cardiol 59 2012 S43 S54
    • (2012) J Am Coll Cardiol , vol.59
    • Hickey, E.J.1    Caldarone, C.A.2    McCrindle, B.W.3
  • 11
  • 12
    • 0031540602 scopus 로고    scopus 로고
    • A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve
    • K. Huntington, A.G. Hunter, and K.L. Chan A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve J Am Coll Cardiol 30 1997 1809 1812
    • (1997) J Am Coll Cardiol , vol.30 , pp. 1809-1812
    • Huntington, K.1    Hunter, A.G.2    Chan, K.L.3
  • 13
    • 33947144645 scopus 로고    scopus 로고
    • Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations
    • L.J. Martin, V. Ramachandran, and L.H. Cripe et al. Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations Hum Genet 121 2007 275 284
    • (2007) Hum Genet , vol.121 , pp. 275-284
    • Martin, L.J.1    Ramachandran, V.2    Cripe, L.H.3
  • 15
    • 20144388158 scopus 로고    scopus 로고
    • Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability
    • K.L. McBride, R. Pignatelli, and M. Lewin Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: segregation, multiplex relative risk, and heritability Am J Med Genet A 134A 2005 180 186
    • (2005) Am J Med Genet A , vol.134 A , pp. 180-186
    • McBride, K.L.1    Pignatelli, R.2    Lewin, M.3
  • 16
    • 34548318488 scopus 로고    scopus 로고
    • Linkage of familial bicuspid aortic valve with aortic aneurysm to chromosome 15q
    • Presented at; October; Baltimore, MD
    • Goh DL, Han LF, Judge DP, et al. Linkage of familial bicuspid aortic valve with aortic aneurysm to chromosome 15q. Presented at: Annual Meeting of the American Society of Human Genetics; October 2002; Baltimore, MD.
    • (2002) Annual Meeting of the American Society of Human Genetics
    • Goh, D.L.1    Han, L.F.2    Judge, D.P.3
  • 17
    • 24644467759 scopus 로고    scopus 로고
    • Mutations in NOTCH1 cause aortic valve disease
    • V. Garg, A.N. Muth, and J.F. Ransom et al. Mutations in NOTCH1 cause aortic valve disease Nature 437 2005 270 274
    • (2005) Nature , vol.437 , pp. 270-274
    • Garg, V.1    Muth, A.N.2    Ransom, J.F.3
  • 18
    • 34547936707 scopus 로고    scopus 로고
    • Evidence of genetic locus heterogeneity for familial bicuspid aortic valve
    • J.W. Ellison, M. Yagubyan, and R. Majumdar et al. Evidence of genetic locus heterogeneity for familial bicuspid aortic valve J Surg Res 142 2007 28 31
    • (2007) J Surg Res , vol.142 , pp. 28-31
    • Ellison, J.W.1    Yagubyan, M.2    Majumdar, R.3
  • 19
    • 65149088429 scopus 로고    scopus 로고
    • Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and moyamoya disease, along with thoracic aortic disease
    • D.C. Guo, C.L. Papke, and V. Tran-Fadulu et al. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and moyamoya disease, along with thoracic aortic disease Am J Hum Genet 84 2009 617 627
    • (2009) Am J Hum Genet , vol.84 , pp. 617-627
    • Guo, D.C.1    Papke, C.L.2    Tran-Fadulu, V.3
  • 20
    • 33747812887 scopus 로고    scopus 로고
    • Aneurysm syndromes caused by mutations in the TGF-beta receptor
    • B.L. Loeys, U. Schwarze, and T. Holm et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor N Engl J Med 355 2006 788 798
    • (2006) N Engl J Med , vol.355 , pp. 788-798
    • Loeys, B.L.1    Schwarze, U.2    Holm, T.3
  • 21
    • 34848825045 scopus 로고    scopus 로고
    • MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II
    • H. Pannu, V. Tran-Fadulu, and C.L. Papke et al. MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II Hum Mol Genet 16 2007 2453 2462
    • (2007) Hum Mol Genet , vol.16 , pp. 2453-2462
    • Pannu, H.1    Tran-Fadulu, V.2    Papke, C.L.3
  • 22
    • 33644627494 scopus 로고    scopus 로고
    • Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus
    • L. Zhu, R. Vranckx, and P. Khau Van Kien et al. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus Nat Genet 38 2006 343 349
    • (2006) Nat Genet , vol.38 , pp. 343-349
    • Zhu, L.1    Vranckx, R.2    Khau Van Kien, P.3
  • 23
    • 79959889715 scopus 로고    scopus 로고
    • Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections
    • S.Q. Kuang, D.C. Guo, and S.K. Prakash et al. Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections PLoS Genet 7 2011 e1002118
    • (2011) PLoS Genet , vol.7 , pp. 1002118
    • Kuang, S.Q.1    Guo, D.C.2    Prakash, S.K.3
  • 24
    • 84879183691 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in patients with bicuspid aortic valve and aneurysm
    • K.C. Kent, M.L. Crenshaw, D.L. Goh, and H.C. Dietz Genotype-phenotype correlation in patients with bicuspid aortic valve and aneurysm J Thorac Cardiovasc Surg 146 2013 158 165.e1
    • (2013) J Thorac Cardiovasc Surg , vol.146
    • Kent, K.C.1    Crenshaw, M.L.2    Goh, D.L.3    Dietz, H.C.4
  • 25
    • 84873513160 scopus 로고    scopus 로고
    • Genetic associations with valvular calcification and aortic stenosis
    • G. Thanassoulis, C.Y. Campbell, and D.S. Owens et al. Genetic associations with valvular calcification and aortic stenosis N Engl J Med 368 2013 503 512
    • (2013) N Engl J Med , vol.368 , pp. 503-512
    • Thanassoulis, G.1    Campbell, C.Y.2    Owens, D.S.3
  • 26
    • 84868206439 scopus 로고    scopus 로고
    • Calcific aortic stenosis: A disease of the valve and the myocardium
    • M.R. Dweck, N.A. Boon, and D.E. Newby Calcific aortic stenosis: a disease of the valve and the myocardium J Am Coll Cardiol 60 2012 1854 1863
    • (2012) J Am Coll Cardiol , vol.60 , pp. 1854-1863
    • Dweck, M.R.1    Boon, N.A.2    Newby, D.E.3
  • 27
    • 34547143279 scopus 로고    scopus 로고
    • Clinical outcome and echocardiographic predictors of aortic valve replacement in patients with bicuspid aortic valve
    • S. Ahmed, G.N. Honos, and A.D. Walling et al. Clinical outcome and echocardiographic predictors of aortic valve replacement in patients with bicuspid aortic valve J Am Soc Echocardiogr 20 2007 998 1003
    • (2007) J Am Soc Echocardiogr , vol.20 , pp. 998-1003
    • Ahmed, S.1    Honos, G.N.2    Walling, A.D.3
  • 28
    • 14044262240 scopus 로고    scopus 로고
    • Frequency by decades of unicuspid, bicuspid, and tricuspid aortic valves in adults having isolated aortic valve replacement for aortic stenosis, with or without associated aortic regurgitation
    • W.C. Roberts, and J.M. Ko Frequency by decades of unicuspid, bicuspid, and tricuspid aortic valves in adults having isolated aortic valve replacement for aortic stenosis, with or without associated aortic regurgitation Circulation 111 2005 920 925
    • (2005) Circulation , vol.111 , pp. 920-925
    • Roberts, W.C.1    Ko, J.M.2
  • 29
    • 51949100355 scopus 로고    scopus 로고
    • Outcomes in adults with bicuspid aortic valves
    • N. Tzemos, J. Therrien, and J. Yip et al. Outcomes in adults with bicuspid aortic valves JAMA 300 2008 1317 1325
    • (2008) JAMA , vol.300 , pp. 1317-1325
    • Tzemos, N.1    Therrien, J.2    Yip, J.3
  • 30
    • 44449116228 scopus 로고    scopus 로고
    • Natural history of asymptomatic patients with normally functioning or minimally dysfunctional bicuspid aortic valve in the community
    • H.I. Michelena, V.A. Desjardins, and J.F. Avierinos et al. Natural history of asymptomatic patients with normally functioning or minimally dysfunctional bicuspid aortic valve in the community Circulation 117 2008 2776 2784
    • (2008) Circulation , vol.117 , pp. 2776-2784
    • Michelena, H.I.1    Desjardins, V.A.2    Avierinos, J.F.3
  • 31
    • 79959714407 scopus 로고    scopus 로고
    • Diet-induced aortic valve disease in mice haploinsufficient for the Notch pathway effector RBPJK/CSL
    • M. Nus, D. Macgrogan, and B. Martinez-Poveda et al. Diet-induced aortic valve disease in mice haploinsufficient for the Notch pathway effector RBPJK/CSL Arterioscler Thromb Vasc Biol 31 2011 1580 1588
    • (2011) Arterioscler Thromb Vasc Biol , vol.31 , pp. 1580-1588
    • Nus, M.1    Macgrogan, D.2    Martinez-Poveda, B.3
  • 32
    • 70549085998 scopus 로고    scopus 로고
    • Bicuspid aortic valves with different spatial orientations of the leaflets are distinct etiological entities
    • B. Fernandez, A.C. Duran, and T. Fernandez-Gallego et al. Bicuspid aortic valves with different spatial orientations of the leaflets are distinct etiological entities J Am Coll Cardiol 54 2009 2312 2318
    • (2009) J Am Coll Cardiol , vol.54 , pp. 2312-2318
    • Fernandez, B.1    Duran, A.C.2    Fernandez-Gallego, T.3
  • 34
    • 51749083049 scopus 로고    scopus 로고
    • A critical review of the American College of Cardiology/American Heart Association practice guidelines on bicuspid aortic valve with dilated ascending aorta
    • W.G. Guntheroth A critical review of the American College of Cardiology/American Heart Association practice guidelines on bicuspid aortic valve with dilated ascending aorta Am J Cardiol 102 2008 107 110
    • (2008) Am J Cardiol , vol.102 , pp. 107-110
    • Guntheroth, W.G.1
  • 35
    • 77950185458 scopus 로고    scopus 로고
    • 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease
    • L.F. Hiratzka, G.L. Bakris, and J.A. Beckman et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease J Am Coll Cardiol 55 2010 e27 e129
    • (2010) J Am Coll Cardiol , vol.55
    • Hiratzka, L.F.1    Bakris, G.L.2    Beckman, J.A.3
  • 36
    • 84864411184 scopus 로고    scopus 로고
    • TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome
    • C. Boileau, D.C. Guo, and N. Hanna et al. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome Nat Genet 44 2012 916 921
    • (2012) Nat Genet , vol.44 , pp. 916-921
    • Boileau, C.1    Guo, D.C.2    Hanna, N.3
  • 37
    • 36549071997 scopus 로고    scopus 로고
    • Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections
    • D.C. Guo, H. Pannu, and V. Tran-Fadulu et al. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections Nat Genet 39 2007 1488 1493
    • (2007) Nat Genet , vol.39 , pp. 1488-1493
    • Guo, D.C.1    Pannu, H.2    Tran-Fadulu, V.3
  • 38
    • 79952779871 scopus 로고    scopus 로고
    • Familial thoracic aortic aneurysms and dissections: Identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection
    • D.C. Guo, E.S. Regalado, and C. Minn et al. Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection Circ Cardiovasc Genet 4 2011 36 42
    • (2011) Circ Cardiovasc Genet , vol.4 , pp. 36-42
    • Guo, D.C.1    Regalado, E.S.2    Minn, C.3
  • 39
    • 80052584397 scopus 로고    scopus 로고
    • Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms
    • E.S. Regalado, D.C. Guo, and C. Villamizar et al. Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms Circ Res 109 2011 680 686
    • (2011) Circ Res , vol.109 , pp. 680-686
    • Regalado, E.S.1    Guo, D.C.2    Villamizar, C.3
  • 40
    • 84863970074 scopus 로고    scopus 로고
    • De novo mutations in human genetic disease
    • J.A. Veltman, and H.G. Brunner De novo mutations in human genetic disease Nat Rev Genet 13 2012 565 575
    • (2012) Nat Rev Genet , vol.13 , pp. 565-575
    • Veltman, J.A.1    Brunner, H.G.2
  • 41
    • 77956642100 scopus 로고    scopus 로고
    • Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
    • S.B. Ng, A.W. Bigham, and K.J. Buckingham et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome Nat Genet 42 2010 790 793
    • (2010) Nat Genet , vol.42 , pp. 790-793
    • Ng, S.B.1    Bigham, A.W.2    Buckingham, K.J.3
  • 42
    • 84860389181 scopus 로고    scopus 로고
    • A mosaic activating mutation in AKT1 associated with the Proteus syndrome
    • M.J. Lindhurst, J.C. Sapp, and J.K. Teer et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome N Engl J Med 365 2011 611 619
    • (2011) N Engl J Med , vol.365 , pp. 611-619
    • Lindhurst, M.J.1    Sapp, J.C.2    Teer, J.K.3
  • 43
    • 84855290539 scopus 로고    scopus 로고
    • Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol
    • S.A. Khetarpal, A.C. Edmondson, and A. Raghavan et al. Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol PLoS Genet 7 2011 e1002393
    • (2011) PLoS Genet , vol.7 , pp. 1002393
    • Khetarpal, S.A.1    Edmondson, A.C.2    Raghavan, A.3
  • 44
    • 82355169007 scopus 로고    scopus 로고
    • Using extreme phenotype sampling to identify the rare causal variants of quantitative traits in association studies
    • D. Li, J.P. Lewinger, W.J. Gauderman, C.E. Murcray, and D. Conti Using extreme phenotype sampling to identify the rare causal variants of quantitative traits in association studies Genet Epidemiol 35 2011 790 799
    • (2011) Genet Epidemiol , vol.35 , pp. 790-799
    • Li, D.1    Lewinger, J.P.2    Gauderman, W.J.3    Murcray, C.E.4    Conti, D.5
  • 45
    • 46249103255 scopus 로고    scopus 로고
    • Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes
    • S. Fahmi, C. Yang, S. Esmail, H.H. Hobbs, and J.C. Cohen Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes Hum Mol Genet 17 2008 2101 2107
    • (2008) Hum Mol Genet , vol.17 , pp. 2101-2107
    • Fahmi, S.1    Yang, C.2    Esmail, S.3    Hobbs, H.H.4    Cohen, J.C.5
  • 46
    • 79959557454 scopus 로고    scopus 로고
    • Power in the phenotypic extremes: A simulation study of power in discovery and replication of rare variants
    • L.T. Guey, J. Kravic, and O. Melander et al. Power in the phenotypic extremes: a simulation study of power in discovery and replication of rare variants Genet Epidemiol 35 2011 236 246
    • (2011) Genet Epidemiol , vol.35 , pp. 236-246
    • Guey, L.T.1    Kravic, J.2    Melander, O.3
  • 47
    • 79959913398 scopus 로고    scopus 로고
    • Loss of Gata5 in mice leads to bicuspid aortic valve
    • B. Laforest, G. Andelfinger, and M. Nemer Loss of Gata5 in mice leads to bicuspid aortic valve J Clin Invest 121 2011 2876 2887
    • (2011) J Clin Invest , vol.121 , pp. 2876-2887
    • Laforest, B.1    Andelfinger, G.2    Nemer, M.3
  • 48
    • 81155128090 scopus 로고    scopus 로고
    • Inhibitory role of Notch1 in calcific aortic valve disease
    • A. Acharya, C.P. Hans, and S.N. Koenig et al. Inhibitory role of Notch1 in calcific aortic valve disease PLoS One 6 2011 e27743
    • (2011) PLoS One , vol.6 , pp. 27743
    • Acharya, A.1    Hans, C.P.2    Koenig, S.N.3
  • 49
    • 84862988884 scopus 로고    scopus 로고
    • Deletion of RBP-J in adult mice leads to the onset of aortic valve degenerative diseases
    • Z. Li, L. Feng, and C.M. Wang et al. Deletion of RBP-J in adult mice leads to the onset of aortic valve degenerative diseases Mol Biol Rep 39 2012 3837 3845
    • (2012) Mol Biol Rep , vol.39 , pp. 3837-3845
    • Li, Z.1    Feng, L.2    Wang, C.M.3
  • 50
    • 84879001958 scopus 로고    scopus 로고
    • De novo mutations in histone-modifying genes in congenital heart disease
    • S. Zaidi, M. Choi, and H. Wakimoto et al. De novo mutations in histone-modifying genes in congenital heart disease Nature 498 2013 220 223
    • (2013) Nature , vol.498 , pp. 220-223
    • Zaidi, S.1    Choi, M.2    Wakimoto, H.3
  • 51
    • 84870215257 scopus 로고    scopus 로고
    • Uncovering the molecular and cellular mechanisms of heart development using the zebrafish
    • D. Staudt, and D. Stainier Uncovering the molecular and cellular mechanisms of heart development using the zebrafish Annu Rev Genet 46 2012 397 418
    • (2012) Annu Rev Genet , vol.46 , pp. 397-418
    • Staudt, D.1    Stainier, D.2
  • 52
    • 70350580660 scopus 로고    scopus 로고
    • Notch1 represses osteogenic pathways in aortic valve cells
    • V. Nigam, and D. Srivastava Notch1 represses osteogenic pathways in aortic valve cells J Mol Cell Cardiol 47 2009 828 834
    • (2009) J Mol Cell Cardiol , vol.47 , pp. 828-834
    • Nigam, V.1    Srivastava, D.2
  • 53
    • 84859101558 scopus 로고    scopus 로고
    • The construction of transgenic and gene knockout/knockin mouse models of human disease
    • A. Doyle, M.P. McGarry, N.A. Lee, and J.J. Lee The construction of transgenic and gene knockout/knockin mouse models of human disease Transgenic Res 21 2012 327 349
    • (2012) Transgenic Res , vol.21 , pp. 327-349
    • Doyle, A.1    McGarry, M.P.2    Lee, N.A.3    Lee, J.J.4
  • 54
    • 84866088969 scopus 로고    scopus 로고
    • Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts
    • A.G. Bick, J. Flannick, and K. Ito et al. Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts Am J Hum Genet 91 2012 513 519
    • (2012) Am J Hum Genet , vol.91 , pp. 513-519
    • Bick, A.G.1    Flannick, J.2    Ito, K.3
  • 55
    • 68149181705 scopus 로고    scopus 로고
    • De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot
    • S.C. Greenway, A.C. Pereira, and J.C. Lin et al. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot Nat Genet 41 2009 931 935
    • (2009) Nat Genet , vol.41 , pp. 931-935
    • Greenway, S.C.1    Pereira, A.C.2    Lin, J.C.3
  • 56
    • 84885676191 scopus 로고    scopus 로고
    • Allele-specific silencing of mutant Myh6 transcripts in mice suppresses hypertrophic cardiomyopathy
    • J. Jiang, H. Wakimoto, J.G. Seidman, and C.E. Seidman Allele-specific silencing of mutant Myh6 transcripts in mice suppresses hypertrophic cardiomyopathy Science 342 2013 111 114
    • (2013) Science , vol.342 , pp. 111-114
    • Jiang, J.1    Wakimoto, H.2    Seidman, J.G.3    Seidman, C.E.4
  • 59
    • 84859858742 scopus 로고    scopus 로고
    • Deficient signaling via Alk2 (Acvr1) leads to bicuspid aortic valve development
    • P.S. Thomas, S. Sridurongrit, P. Ruiz-Lozano, and V. Kaartinen Deficient signaling via Alk2 (Acvr1) leads to bicuspid aortic valve development PLoS One 7 2012 e35539
    • (2012) PLoS One , vol.7 , pp. 35539
    • Thomas, P.S.1    Sridurongrit, S.2    Ruiz-Lozano, P.3    Kaartinen, V.4
  • 60
    • 0034704998 scopus 로고    scopus 로고
    • Abnormal aortic valve development in mice lacking endothelial nitric oxide synthase
    • T.C. Lee, Y.D. Zhao, D.W. Courtman, and D.J. Stewart Abnormal aortic valve development in mice lacking endothelial nitric oxide synthase Circulation 101 2000 2345 2348
    • (2000) Circulation , vol.101 , pp. 2345-2348
    • Lee, T.C.1    Zhao, Y.D.2    Courtman, D.W.3    Stewart, D.J.4
  • 61
    • 83455169170 scopus 로고    scopus 로고
    • Cardiovascular defects in a mouse model of HOXA1 syndrome
    • N. Makki, and M.R. Capecchi Cardiovascular defects in a mouse model of HOXA1 syndrome Hum Mol Genet 21 2012 26 31
    • (2012) Hum Mol Genet , vol.21 , pp. 26-31
    • Makki, N.1    Capecchi, M.R.2
  • 62
    • 0035098557 scopus 로고    scopus 로고
    • DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
    • L.A. Jerome, and V.E. Papaioannou DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1 Nat Genet 27 2001 286 291
    • (2001) Nat Genet , vol.27 , pp. 286-291
    • Jerome, L.A.1    Papaioannou, V.E.2
  • 63
    • 0346258124 scopus 로고    scopus 로고
    • Ablation of specific expression domains reveals discrete functions of ectoderm- and endoderm-derived FGF8 during cardiovascular and pharyngeal development
    • T.L. Macatee, B.P. Hammond, B.R. Arenkiel, L. Francis, D.U. Frank, and A.M. Moon Ablation of specific expression domains reveals discrete functions of ectoderm- and endoderm-derived FGF8 during cardiovascular and pharyngeal development Development 130 2003 6361 6374
    • (2003) Development , vol.130 , pp. 6361-6374
    • Macatee, T.L.1    Hammond, B.P.2    Arenkiel, B.R.3    Francis, L.4    Frank, D.U.5    Moon, A.M.6
  • 64
    • 57349186277 scopus 로고    scopus 로고
    • Frs2alpha-deficiency in cardiac progenitors disrupts a subset of FGF signals required for outflow tract morphogenesis
    • J. Zhang, Y. Lin, and Y. Zhang et al. Frs2alpha-deficiency in cardiac progenitors disrupts a subset of FGF signals required for outflow tract morphogenesis Development 135 2008 3611 3622
    • (2008) Development , vol.135 , pp. 3611-3622
    • Zhang, J.1    Lin, Y.2    Zhang, Y.3
  • 65
    • 0034634279 scopus 로고    scopus 로고
    • Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5
    • C. Biben, R. Weber, and S. Kesteven et al. Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5 Circ Res 87 2000 888 895
    • (2000) Circ Res , vol.87 , pp. 888-895
    • Biben, C.1    Weber, R.2    Kesteven, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.