메뉴 건너뛰기




Volumn 10, Issue 2, 2017, Pages

Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy

(20)  Mayosi, Bongani M a,b   Fish, Maryam a   Shaboodien, Gasnat b   Mastantuono, Elisa b   Kraus, Sarah b   Wieland, Thomas b,c   Kotta, Maria Christina a,c,h   Chin, Ashley c   Laing, Nakita d   Ntusi, Ntobeko B A e   Chong, Michael e   Horsfall, Christopher f   Pimstone, Simon N g   Gentilini, Davide i   Parati, Gianfranco j   Strom, Tim Matthias k,l,o   Meitinger, Thomas p   Pare, Guillaume m   Schwartz, Peter J n   Crotti, Lia a,o  


Author keywords

arrhythmogenic right ventricular dysplasia; cadherins; cardiomyopathies; genetics; mutation

Indexed keywords

CADHERIN; CADHERIN 2; DESMOSOMAL CADHERIN; DNA; UNCLASSIFIED DRUG; CDH2 PROTEIN, HUMAN; LEUKOCYTE ANTIGEN;

EID: 85018214956     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.116.001605     Document Type: Article
Times cited : (120)

References (45)
  • 1
    • 75249096712 scopus 로고    scopus 로고
    • Diagnosis of arrhythmogenic right ventricular cardiomyopathy/ dysplasia: Proposed modification of the task force criteria
    • Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/ dysplasia: proposed modification of the task force criteria. Circulation. 2010;121:1533-1541. doi: 10.1161/CIRCULATIONAHA.108.840827.
    • (2010) Circulation. , vol.121 , pp. 1533-1541
    • Marcus, F.I.1    McKenna, W.J.2    Sherrill, D.3    Basso, C.4    Bauce, B.5    Bluemke, D.A.6
  • 2
    • 77957267604 scopus 로고    scopus 로고
    • The cardiac desmosome and arrhythmogenic cardiomyopathies: From gene to disease
    • Delmar M, McKenna WJ. The cardiac desmosome and arrhythmogenic cardiomyopathies: from gene to disease. Circ Res. 2010;107:700-714. doi: 10.1161/CIRCRESAHA.110.223412.
    • (2010) Circ Res. , vol.107 , pp. 700-714
    • Delmar, M.1    McKenna, W.J.2
  • 3
    • 79955519460 scopus 로고    scopus 로고
    • Inherited cardiomyopathies
    • Watkins H, Ashrafian H, Redwood C. Inherited cardiomyopathies. N Engl J Med. 2011;364:1643-1656. doi: 10.1056/NEJMra0902923.
    • (2011) N Engl J Med. , vol.364 , pp. 1643-1656
    • Watkins, H.1    Ashrafian, H.2    Redwood, C.3
  • 4
    • 33645772930 scopus 로고    scopus 로고
    • Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • van Tintelen JP, Entius MM, Bhuiyan ZA, Jongbloed R, Wiesfeld AC, Wilde AA, et al. Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation. 2006;113:1650-1658. doi: 10.1161/CIRCULATIONAHA.105.609719.
    • (2006) Circulation. , vol.113 , pp. 1650-1658
    • Van Tintelen, J.P.1    Entius, M.M.2    Bhuiyan, Z.A.3    Jongbloed, R.4    Wiesfeld, A.C.5    Wilde, A.A.6
  • 5
    • 41649107651 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene
    • Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, et al. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet. 2008;82:809-821. doi: 10.1016/j.ajhg.2008.01.010.
    • (2008) Am J Hum Genet. , vol.82 , pp. 809-821
    • Merner, N.D.1    Hodgkinson, K.A.2    Haywood, A.F.3    Connors, S.4    French, V.M.5    Drenckhahn, J.D.6
  • 6
    • 0035253502 scopus 로고    scopus 로고
    • Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
    • Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet. 2001;10:189-194.
    • (2001) Hum Mol Genet. , vol.10 , pp. 189-194
    • Tiso, N.1    Stephan, D.A.2    Nava, A.3    Bagattin, A.4    Devaney, J.M.5    Stanchi, F.6
  • 7
    • 84938682707 scopus 로고    scopus 로고
    • Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: Results of a systematic screening
    • Roux-Buisson N, Gandjbakhch E, Donal E, Probst V, Deharo JC, Chevalier P, et al. Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening. Heart Rhythm. 2014;11:1999-2009. doi: 10.1016/j.hrthm.2014.07.020.
    • (2014) Heart Rhythm. , vol.11 , pp. 1999-2009
    • Roux-Buisson, N.1    Gandjbakhch, E.2    Donal, E.3    Probst, V.4    Deharo, J.C.5    Chevalier, P.6
  • 8
    • 19944426652 scopus 로고    scopus 로고
    • Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1
    • Beffagna G, Occhi G, Nava A, Vitiello L, Ditadi A, Basso C, et al. Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res. 2005;65:366-373. doi: 10.1016/j.cardiores.2004.10.005.
    • (2005) Cardiovasc Res. , vol.65 , pp. 366-373
    • Beffagna, G.1    Occhi, G.2    Nava, A.3    Vitiello, L.4    Ditadi, A.5    Basso, C.6
  • 10
    • 84936947884 scopus 로고    scopus 로고
    • Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members
    • Groeneweg JA, Bhonsale A, James CA, te Riele AS, Dooijes D, Tichnell C, et al. Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members. Circ Cardiovasc Genet. 2015;8:437-446. doi: 10.1161/CIRCGENETICS.114.001003.
    • (2015) Circ Cardiovasc Genet. , vol.8 , pp. 437-446
    • Groeneweg, J.A.1    Bhonsale, A.2    James, C.A.3    Te Riele, A.S.4    Dooijes, D.5    Tichnell, C.6
  • 11
    • 75549084678 scopus 로고    scopus 로고
    • Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the arrhythmogenic right ventricular cardiomyopathy registry of South Africa
    • ARVC Registry of the Cardiac Arrhythmia Society of Southern Africa (CASSA)
    • Watkins DA, Hendricks N, Shaboodien G, Mbele M, Parker M, Vezi BZ, et al.; ARVC Registry of the Cardiac Arrhythmia Society of Southern Africa (CASSA). Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the arrhythmogenic right ventricular cardiomyopathy registry of South Africa. Heart Rhythm. 2009;6(11 Suppl):S10-S17. doi: 10.1016/j.hrthm.2009.08.018.
    • (2009) Heart Rhythm. , vol.6 , Issue.11 , pp. S10-S17
    • Watkins, D.A.1    Hendricks, N.2    Shaboodien, G.3    Mbele, M.4    Parker, M.5    Vezi, B.Z.6
  • 12
    • 84955472663 scopus 로고    scopus 로고
    • High interobserver variability in the assessment of epsilon waves: Implications for diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia
    • Platonov PG, Calkins H, Hauer RN, Corrado D, Svendsen JH, Wichter T, et al. High interobserver variability in the assessment of epsilon waves: Implications for diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia. Heart Rhythm. 2016;13:208-216. doi: 10.1016/j.hrthm.2015.08.031.
    • (2016) Heart Rhythm. , vol.13 , pp. 208-216
    • Platonov, P.G.1    Calkins, H.2    Hauer, R.N.3    Corrado, D.4    Svendsen, J.H.5    Wichter, T.6
  • 13
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25:1754-1760. doi: 10.1093/ bioinformatics/btp324.
    • (2009) Bioinformatics. , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 14
    • 68549104404 scopus 로고    scopus 로고
    • The Sequence Alignment/ Map format and SAMtools
    • 1000 Genome Project Data Processing Subgroup
    • Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, et al; 1000 Genome Project Data Processing Subgroup. The Sequence Alignment/ Map format and SAMtools. Bioinformatics. 2009;25:2078-2079. doi: 10.1093/bioinformatics/btp352.
    • (2009) Bioinformatics. , vol.25 , pp. 2078-2079
    • Li, H.1    Handsaker, B.2    Wysoker, A.3    Fennell, T.4    Ruan, J.5    Homer, N.6
  • 15
    • 70350694443 scopus 로고    scopus 로고
    • Pindel: A pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
    • Ye K, Schulz MH, Long Q, Apweiler R, Ning Z. Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics. 2009;25:2865-2871. doi: 10.1093/bioinformatics/btp394.
    • (2009) Bioinformatics. , vol.25 , pp. 2865-2871
    • Ye, K.1    Schulz, M.H.2    Long, Q.3    Apweiler, R.4    Ning, Z.5
  • 18
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003;31:3812-3814.
    • (2003) Nucleic Acids Res. , vol.31 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 19
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010;7:575-576. doi: 10.1038/nmeth0810-575.
    • (2010) Nat Methods. , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rödelsperger, C.2    Schuelke, M.3    Seelow, D.4
  • 20
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative pathogenicity of human genetic variants
    • Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014;46:310-315. doi: 10.1038/ng.2892.
    • (2014) Nat Genet. , vol.46 , pp. 310-315
    • Kircher, M.1    Witten, D.M.2    Jain, P.3    O'Roak, B.J.4    Cooper, G.M.5    Shendure, J.6
  • 22
    • 33646002657 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): Support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes
    • Matolweni LO, Bardien S, Rebello G, Oppon E, Munclinger M, Ramesar R, et al. Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes. BMC Med Genet. 2006;7:29. doi: 10.1186/1471-2350-7-29.
    • (2006) BMC Med Genet. , vol.7 , pp. 29
    • Matolweni, L.O.1    Bardien, S.2    Rebello, G.3    Oppon, E.4    Munclinger, M.5    Ramesar, R.6
  • 23
    • 0033951027 scopus 로고    scopus 로고
    • Follow-up of patients with arrhythmogenic right ventricular cardiomyopathy dysplasia
    • Munclinger MJ, Patel JJ, Mitha AS. Follow-up of patients with arrhythmogenic right ventricular cardiomyopathy dysplasia. S Afr Med J. 2000;90:61-68.
    • (2000) S Afr Med J. , vol.90 , pp. 61-68
    • Munclinger, M.J.1    Patel, J.J.2    Mitha, A.S.3
  • 25
    • 23744458086 scopus 로고    scopus 로고
    • Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
    • Siepel A, Bejerano G, Pedersen JS, Hinrichs AS, Hou M, Rosenbloom K, et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res. 2005;15:1034-1050. doi: 10.1101/gr.3715005.
    • (2005) Genome Res. , vol.15 , pp. 1034-1050
    • Siepel, A.1    Bejerano, G.2    Pedersen, J.S.3    Hinrichs, A.S.4    Hou, M.5    Rosenbloom, K.6
  • 26
    • 74949092081 scopus 로고    scopus 로고
    • Detection of nonneutral substitution rates on mammalian phylogenies
    • Pollard KS, Hubisz MJ, Rosenbloom KR, Siepel A. Detection of nonneutral substitution rates on mammalian phylogenies. Genome Res. 2010;20:110-121. doi: 10.1101/gr.097857.109.
    • (2010) Genome Res. , vol.20 , pp. 110-121
    • Pollard, K.S.1    Hubisz, M.J.2    Rosenbloom, K.R.3    Siepel, A.4
  • 27
    • 33644853794 scopus 로고    scopus 로고
    • The Jervell and Lange-Nielsen syndrome: Natural history, molecular basis, and clinical outcome
    • Schwartz PJ, Spazzolini C, Crotti L, Bathen J, Amlie JP, Timothy K, et al. The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome. Circulation. 2006;113:783-790. doi: 10.1161/ CIRCULATIONAHA.105.592899.
    • (2006) Circulation. , vol.113 , pp. 783-790
    • Schwartz, P.J.1    Spazzolini, C.2    Crotti, L.3    Bathen, J.4    Amlie, J.P.5    Timothy, K.6
  • 28
  • 29
    • 84880909923 scopus 로고    scopus 로고
    • Combined linkage analysis and exome sequencing identifies novel genes for familial goiter
    • Yan J, Takahashi T, Ohura T, Adachi H, Takahashi I, Ogawa E, et al. Combined linkage analysis and exome sequencing identifies novel genes for familial goiter. J Hum Genet. 2013;58:366-377. doi: 10.1038/jhg.2013.20.
    • (2013) J Hum Genet. , vol.58 , pp. 366-377
    • Yan, J.1    Takahashi, T.2    Ohura, T.3    Adachi, H.4    Takahashi, I.5    Ogawa, E.6
  • 30
    • 0028979956 scopus 로고
    • Interaction of alphaactinin with the cadherin/catenin cell-cell adhesion complex via alphacatenin
    • Knudsen KA, Soler AP, Johnson KR, Wheelock MJ. Interaction of alphaactinin with the cadherin/catenin cell-cell adhesion complex via alphacatenin. J Cell Biol. 1995;130:67-77.
    • (1995) J Cell Biol. , vol.130 , pp. 67-77
    • Knudsen, K.A.1    Soler, A.P.2    Johnson, K.R.3    Wheelock, M.J.4
  • 31
    • 77649100539 scopus 로고    scopus 로고
    • Cell-cell connection to cardiac disease
    • Sheikh F, Ross RS, Chen J. Cell-cell connection to cardiac disease. Trends Cardiovasc Med. 2009;19:182-190. doi: 10.1016/j.tcm.2009.12.001.
    • (2009) Trends Cardiovasc Med. , vol.19 , pp. 182-190
    • Sheikh, F.1    Ross, R.S.2    Chen, J.3
  • 32
    • 31344461886 scopus 로고    scopus 로고
    • The area composita of adhering junctions connecting heart muscle cells of vertebrates I. Molecular definition in intercalated disks of cardiomyocytes by immunoelectron microscopy of desmosomal proteins
    • Franke WW, Borrmann CM, Grund C, Pieperhoff S. The area composita of adhering junctions connecting heart muscle cells of vertebrates. I. Molecular definition in intercalated disks of cardiomyocytes by immunoelectron microscopy of desmosomal proteins. Eur J Cell Biol. 2006;85:69-82. doi: 10.1016/j.ejcb.2005.11.003.
    • (2006) Eur J Cell Biol. , vol.85 , pp. 69-82
    • Franke, W.W.1    Borrmann, C.M.2    Grund, C.3    Pieperhoff, S.4
  • 33
    • 84864067796 scopus 로고    scopus 로고
    • Dynamic of ion channel expression at the plasma membrane of cardiomyocytes
    • Balse E, Steele DF, Abriel H, Coulombe A, Fedida D, Hatem SN. Dynamic of ion channel expression at the plasma membrane of cardiomyocytes. Physiol Rev. 2012;92:1317-1358. doi: 10.1152/physrev.00041.2011.
    • (2012) Physiol Rev. , vol.92 , pp. 1317-1358
    • Balse, E.1    Steele, D.F.2    Abriel, H.3    Coulombe, A.4    Fedida, D.5    Hatem, S.N.6
  • 34
    • 0026687386 scopus 로고
    • Plakoglobin, or an 83-kD homologue distinct from beta-catenin, interacts with E-cadherin and N-cadherin
    • Knudsen KA, Wheelock MJ. Plakoglobin, or an 83-kD homologue distinct from beta-catenin, interacts with E-cadherin and N-cadherin. J Cell Biol. 1992;118:671-679.
    • (1992) J Cell Biol. , vol.118 , pp. 671-679
    • Knudsen, K.A.1    Wheelock, M.J.2
  • 35
    • 0029123863 scopus 로고
    • Identification of plakoglobin domains required for association with N-cadherin and alphacatenin
    • Sacco PA, McGranahan TM, Wheelock MJ, Johnson KR. Identification of plakoglobin domains required for association with N-cadherin and alphacatenin. J Biol Chem. 1995;270:20201-20206.
    • (1995) J Biol Chem. , vol.270 , pp. 20201-20206
    • Sacco, P.A.1    McGranahan, T.M.2    Wheelock, M.J.3    Johnson, K.R.4
  • 36
    • 33646555794 scopus 로고    scopus 로고
    • The area composita of adhering junctions connecting heart muscle cells of vertebrates II. Colocalizations of desmosomal and fascia adhaerens molecules in the intercalated disk
    • Borrmann CM, Grund C, Kuhn C, Hofmann I, Pieperhoff S, Franke WW. The area composita of adhering junctions connecting heart muscle cells of vertebrates. II. Colocalizations of desmosomal and fascia adhaerens molecules in the intercalated disk. Eur J Cell Biol. 2006;85:469-485. doi: 10.1016/j.ejcb.2006.02.009.
    • (2006) Eur J Cell Biol. , vol.85 , pp. 469-485
    • Borrmann, C.M.1    Grund, C.2    Kuhn, C.3    Hofmann, I.4    Pieperhoff, S.5    Franke, W.W.6
  • 37
    • 84872584894 scopus 로고    scopus 로고
    • Mutations in the area composita protein αt-catenin are associated with arrhythmogenic right ventricular cardiomyopathy
    • van Hengel J, Calore M, Bauce B, Dazzo E, Mazzotti E, De Bortoli M, et al. Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy. Eur Heart J. 2013;34:201-210. doi: 10.1093/eurheartj/ehs373.
    • (2013) Eur Heart J. , vol.34 , pp. 201-210
    • Van Hengel, J.1    Calore, M.2    Bauce, B.3    Dazzo, E.4    Mazzotti, E.5    De Bortoli, M.6
  • 38
    • 14044256554 scopus 로고    scopus 로고
    • Induced deletion of the N-cadherin gene in the heart leads to dissolution of the intercalated disc structure
    • Kostetskii I, Li J, Xiong Y, Zhou R, Ferrari VA, Patel VV, et al. Induced deletion of the N-cadherin gene in the heart leads to dissolution of the intercalated disc structure. Circ Res. 2005;96:346-354. doi: 10.1161/01. RES.0000156274.72390.2c.
    • (2005) Circ Res. , vol.96 , pp. 346-354
    • Kostetskii, I.1    Li, J.2    Xiong, Y.3    Zhou, R.4    Ferrari, V.A.5    Patel, V.V.6
  • 39
    • 24744444972 scopus 로고    scopus 로고
    • Cardiacspecific loss of N-cadherin leads to alteration in connexins with conduction slowing and arrhythmogenesis
    • Li J, Patel VV, Kostetskii I, Xiong Y, Chu AF, Jacobson JT, et al. Cardiacspecific loss of N-cadherin leads to alteration in connexins with conduction slowing and arrhythmogenesis. Circ Res. 2005;97:474-481. doi: 10.1161/01.RES.0000181132.11393.18.
    • (2005) Circ Res. , vol.97 , pp. 474-481
    • Li, J.1    Patel, V.V.2    Kostetskii, I.3    Xiong, Y.4    Chu, A.F.5    Jacobson, J.T.6
  • 40
    • 2442509624 scopus 로고    scopus 로고
    • Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease)
    • Kaplan SR, Gard JJ, Protonotarios N, Tsatsopoulou A, Spiliopoulou C, Anastasakis A, et al. Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). Heart Rhythm. 2004;1:3-11. doi: 10.1016/j.hrthm. 2004.01.001.
    • (2004) Heart Rhythm. , vol.1 , pp. 3-11
    • Kaplan, S.R.1    Gard, J.J.2    Protonotarios, N.3    Tsatsopoulou, A.4    Spiliopoulou, C.5    Anastasakis, A.6
  • 41
    • 40649116404 scopus 로고    scopus 로고
    • N-cadherin haploinsufficiency affects cardiac gap junctions and arrhythmic susceptibility
    • Li J, Levin MD, Xiong Y, Petrenko N, Patel VV, Radice GL. N-cadherin haploinsufficiency affects cardiac gap junctions and arrhythmic susceptibility. J Mol Cell Cardiol. 2008;44:597-606. doi: 10.1016/j. yjmcc.2007.11.013.
    • (2008) J Mol Cell Cardiol. , vol.44 , pp. 597-606
    • Li, J.1    Levin, M.D.2    Xiong, Y.3    Petrenko, N.4    Patel, V.V.5    Radice, G.L.6
  • 42
    • 84894093943 scopus 로고    scopus 로고
    • The hippo pathway is activated and is a causal mechanism for adipogenesis in arrhythmogenic cardiomyopathy
    • Chen SN, Gurha P, Lombardi R, Ruggiero A, Willerson JT, Marian AJ. The hippo pathway is activated and is a causal mechanism for adipogenesis in arrhythmogenic cardiomyopathy. Circ Res. 2014;114:454-468. doi: 10.1161/CIRCRESAHA.114.302810.
    • (2014) Circ Res. , vol.114 , pp. 454-468
    • Chen, S.N.1    Gurha, P.2    Lombardi, R.3    Ruggiero, A.4    Willerson, J.T.5    Marian, A.J.6
  • 44
    • 84913535069 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy mutations alter shear response without changes in cell-cell adhesion
    • Hariharan V, Asimaki A, Michaelson JE, Plovie E, MacRae CA, Saffitz JE, et al. Arrhythmogenic right ventricular cardiomyopathy mutations alter shear response without changes in cell-cell adhesion. Cardiovasc Res. 2014;104:280-289. doi: 10.1093/cvr/cvu212.
    • (2014) Cardiovasc Res. , vol.104 , pp. 280-289
    • Hariharan, V.1    Asimaki, A.2    Michaelson, J.E.3    Plovie, E.4    MacRae, C.A.5    Saffitz, J.E.6
  • 45
    • 84860352874 scopus 로고    scopus 로고
    • Genetic testing of candidate genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia
    • Campuzano O, Alcalde M, Berne P, Castro V, Guzzo G, Iglesias A, et al. Genetic testing of candidate genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Eur J Med Genet. 2012;55:225-234. doi: 10.1016/j.ejmg.2012.02.007.
    • (2012) Eur J Med Genet. , vol.55 , pp. 225-234
    • Campuzano, O.1    Alcalde, M.2    Berne, P.3    Castro, V.4    Guzzo, G.5    Iglesias, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.