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Volumn 7, Issue 8, 2010, Pages 1058-1064

Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks

Author keywords

Cardiomyopathy; Desmin; Genes; Genetics; Immunohistochemistry; Intercalated disk; Right ventricle

Indexed keywords

DESMIN; DESMOPLAKIN; PLAKOPHILIN; PLAKOPHILIN 2; UNCLASSIFIED DRUG;

EID: 77956807136     PISSN: 15475271     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hrthm.2010.04.023     Document Type: Article
Times cited : (100)

References (29)
  • 2
    • 34548745149 scopus 로고    scopus 로고
    • Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene
    • J.E.H. Bergman, H.E. Veenstra-Knol, A.J. van Essen, et al. Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene Eur J Med Genet 50 2007 355 366
    • (2007) Eur J Med Genet , vol.50 , pp. 355-366
    • Bergman, J.E.H.1    Veenstra-Knol, H.E.2    Van Essen, A.J.3
  • 3
    • 33747180877 scopus 로고    scopus 로고
    • Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects
    • E. Arbustini, M. Pasotti, A. Pilotto, et al. Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects Eur J Heart Fail 8 2006 477 483
    • (2006) Eur J Heart Fail , vol.8 , pp. 477-483
    • Arbustini, E.1    Pasotti, M.2    Pilotto, A.3
  • 6
    • 70350474285 scopus 로고    scopus 로고
    • Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the des gene
    • J.P. van Tintelen, I.C. van Gelder, A. Asimaki, et al. Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene Heart Rhythm 6 2009 1574 1583
    • (2009) Heart Rhythm , vol.6 , pp. 1574-1583
    • Van Tintelen, J.P.1    Van Gelder, I.C.2    Asimaki, A.3
  • 7
    • 0028347223 scopus 로고
    • Diagnosis of arrhythmogenic right ventricular dysplasia/ cardiomyopathy
    • Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology
    • W.J. McKenna, G. Thiene, A. Nava, et al. Diagnosis of arrhythmogenic right ventricular dysplasia/ cardiomyopathy Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology Br Heart J 71 1994 215 218
    • (1994) Br Heart J , vol.71 , pp. 215-218
    • McKenna, W.J.1    Thiene, G.2    Nava, A.3
  • 8
    • 33645772930 scopus 로고    scopus 로고
    • Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • J.P. Van Tintelen, M.M. Entius, Z.A. Bhuiyan, et al. Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy Circulation 113 2006 1650 1658
    • (2006) Circulation , vol.113 , pp. 1650-1658
    • Van Tintelen, J.P.1    Entius, M.M.2    Bhuiyan, Z.A.3
  • 9
    • 77949878973 scopus 로고    scopus 로고
    • Desmoglein-2 and desmocollin-2 mutations in Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy patients: Results from a multicenter study
    • Z.A. Bhuiyan, J.D.H. Jongbloed, and J. Van der Smagt, et al. Desmoglein-2 and desmocollin-2 mutations in Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy patients: results from a multicenter study Circ Cardiovasc Genet 2 2009 418 427
    • (2009) Circ Cardiovasc Genet , vol.2 , pp. 418-427
    • Bhuiyan, Z.A.1    Jongbloed, J.D.H.2    Van Der Smagt, J.3
  • 10
    • 0032404138 scopus 로고    scopus 로고
    • Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electroforesis
    • Y. Wu, V.M. Hayes, J. Osinga, et al. Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electroforesis Nucleic Acids Res 26 1998 5432 5440
    • (1998) Nucleic Acids Res , vol.26 , pp. 5432-5440
    • Wu, Y.1    Hayes, V.M.2    Osinga, J.3
  • 11
    • 0033569229 scopus 로고    scopus 로고
    • Improvements in gel composition and electroforetic conditions for broad-range mutation analysis by denaturing gradient gel electroforesis
    • V.M. Hayes, Y. Wu, J. Osinga, et al. Improvements in gel composition and electroforetic conditions for broad-range mutation analysis by denaturing gradient gel electroforesis Nucleic Acids Res 27 1999 e29
    • (1999) Nucleic Acids Res , vol.27
    • Hayes, V.M.1    Wu, Y.2    Osinga, J.3
  • 12
    • 20244382845 scopus 로고    scopus 로고
    • Identifying candidate Hirschprung disease-associated RET variants
    • G.M. Burzynski, I.M. Nolte, A. Bronda, et al. Identifying candidate Hirschprung disease-associated RET variants Am J Hum Genet 76 2005 850 858
    • (2005) Am J Hum Genet , vol.76 , pp. 850-858
    • Burzynski, G.M.1    Nolte, I.M.2    Bronda, A.3
  • 14
    • 62349094053 scopus 로고    scopus 로고
    • A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy
    • A. Asimaki, H. Tandri, H. Huang, et al. A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy N Engl J Med 360 2009 1075 1084
    • (2009) N Engl J Med , vol.360 , pp. 1075-1084
    • Asimaki, A.1    Tandri, H.2    Huang, H.3
  • 16
    • 34047242886 scopus 로고    scopus 로고
    • Conspicuous involvement of Desmin tail mutations in diverse cardiac and skeletal myopathies
    • H. Bär, B. Goudeau, S. Wälde, et al. Conspicuous involvement of Desmin tail mutations in diverse cardiac and skeletal myopathies Hum Mutat 28 2007 374 386
    • (2007) Hum Mutat , vol.28 , pp. 374-386
    • Bär, H.1    Goudeau, B.2    Wälde, S.3
  • 18
    • 0037374064 scopus 로고    scopus 로고
    • Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations
    • M.C. Dalakas, A. Dagvadorj, B. Goudeau, et al. Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations Neuromuscul Disord 13 2003 252 258
    • (2003) Neuromuscul Disord , vol.13 , pp. 252-258
    • Dalakas, M.C.1    Dagvadorj, A.2    Goudeau, B.3
  • 19
    • 61349136209 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy/dysplasia: A not so rare "disease of the desmosome" with multiple clinical presentations
    • T. Herren, P.A. Gerber, and F. Duru Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare "disease of the desmosome" with multiple clinical presentations Clin Res Cardiol 98 2009 141 158
    • (2009) Clin Res Cardiol , vol.98 , pp. 141-158
    • Herren, T.1    Gerber, P.A.2    Duru, F.3
  • 20
    • 67849094014 scopus 로고    scopus 로고
    • Sudden death with circumferential subepicardial fibrofatty replacement. Left-sided arrhythmogenic ventricular cardiomyopathy
    • S.M. Mackey-Bojack, S.J. Roe, and J.L. Titus Sudden death with circumferential subepicardial fibrofatty replacement Left-sided arrhythmogenic ventricular cardiomyopathy Am J Forens Med Pathol 30 2009 209 214
    • (2009) Am J Forens Med Pathol , vol.30 , pp. 209-214
    • Mackey-Bojack, S.M.1    Roe, S.J.2    Titus, J.L.3
  • 21
    • 22544475951 scopus 로고    scopus 로고
    • Remodeling of gap junctions and slow conduction in a mouse model of desmin-related cardiomyopathy
    • J.J. Gard, K. Yamada, K.G. Green, et al. Remodeling of gap junctions and slow conduction in a mouse model of desmin-related cardiomyopathy Cardiovasc Res 67 2005 539 547
    • (2005) Cardiovasc Res , vol.67 , pp. 539-547
    • Gard, J.J.1    Yamada, K.2    Green, K.G.3
  • 22
    • 0033712289 scopus 로고    scopus 로고
    • N-Cadherin: Structure, function and importance in the formation of new intercalated disk-like cell contacts in cardiomyocytes
    • C. Zuppinger, M. Eppenberger-Eberhardt, and H.M. Eppenberger N-Cadherin: structure, function and importance in the formation of new intercalated disk-like cell contacts in cardiomyocytes Heart Fail Rev 5 2000 251 257
    • (2000) Heart Fail Rev , vol.5 , pp. 251-257
    • Zuppinger, C.1    Eppenberger-Eberhardt, M.2    Eppenberger, H.M.3
  • 23
    • 9244238200 scopus 로고    scopus 로고
    • Regulation of desmosome assembly and adhesion
    • T. Yin, and K.J. Green Regulation of desmosome assembly and adhesion Semin Cell Dev Biol 15 2004 665 677
    • (2004) Semin Cell Dev Biol , vol.15 , pp. 665-677
    • Yin, T.1    Green, K.J.2
  • 24
    • 33845889218 scopus 로고    scopus 로고
    • New insights into the molecular basis of desmoplakin- and desmin-related cardiomyopathies
    • K. Lapouge, L. Fontao, M.F. Champliaud, et al. New insights into the molecular basis of desmoplakin- and desmin-related cardiomyopathies J Cell Sci 119 2006 4974 4985
    • (2006) J Cell Sci , vol.119 , pp. 4974-4985
    • Lapouge, K.1    Fontao, L.2    Champliaud, M.F.3
  • 25
    • 5444235947 scopus 로고    scopus 로고
    • Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation
    • K.S. Grossmann, C. Grund, J. Huelsken, et al. Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation JCB 167 2004 149 160
    • (2004) JCB , vol.167 , pp. 149-160
    • Grossmann, K.S.1    Grund, C.2    Huelsken, J.3
  • 26
    • 2442509624 scopus 로고    scopus 로고
    • Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease)
    • S.R. Kaplan, J.J. Gard, N. Protonotarios, et al. Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease) Heart Rhythm 1 2004 3 11
    • (2004) Heart Rhythm , vol.1 , pp. 3-11
    • Kaplan, S.R.1    Gard, J.J.2    Protonotarios, N.3
  • 28
    • 0037286470 scopus 로고    scopus 로고
    • Gap junction remodeling and altered connexin43 expression in the failing human heart
    • S. Kostin, M. Rieger, S. Dammer, et al. Gap junction remodeling and altered connexin43 expression in the failing human heart Mol Cell Biochem 242 2003 135 144
    • (2003) Mol Cell Biochem , vol.242 , pp. 135-144
    • Kostin, S.1    Rieger, M.2    Dammer, S.3
  • 29
    • 77449145091 scopus 로고    scopus 로고
    • Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations
    • L.M. Fidler, G.J. Wilson, F. Liu, et al. Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations J Cell Mol Med 13 2009 4219 4228
    • (2009) J Cell Mol Med , vol.13 , pp. 4219-4228
    • Fidler, L.M.1    Wilson, G.J.2    Liu, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.