메뉴 건너뛰기




Volumn 3 FEB, Issue , 2012, Pages

Gene mutations resulting in the development of ARVC/D could affect cells of the cardiac conduction system

Author keywords

Area composita; ARVC D; Conduction system; Desmosomal gene mutation; Desmosome; Heart

Indexed keywords


EID: 84862774770     PISSN: None     EISSN: 1664042X     Source Type: Journal    
DOI: 10.3389/fphys.2012.00022     Document Type: Short Survey
Times cited : (8)

References (53)
  • 2
    • 79960075739 scopus 로고    scopus 로고
    • The atrioventricular node: origin, development, and genetic program
    • Bakker, M. L., Moorman, A. F., and Christoffels, V. M. (2010). The atrioventricular node: origin, development, and genetic program. Trends Cardiovasc. Med. 20, 164-171.
    • (2010) Trends Cardiovasc. Med. , vol.20 , pp. 164-171
    • Bakker, M.L.1    Moorman, A.F.2    Christoffels, V.M.3
  • 7
    • 0031915608 scopus 로고    scopus 로고
    • Cell contact as an independent factor modulating cardiac myocyte hypertrophy and survival in long-term primary culture
    • Clark, W. A., Decker, M. L., Behnke-Barclay, M., Janes, D. M., and Decker, R. S. (1998). Cell contact as an independent factor modulating cardiac myocyte hypertrophy and survival in long-term primary culture. J. Mol. Cell. Cardiol. 30, 139-155.
    • (1998) J. Mol. Cell. Cardiol. , vol.30 , pp. 139-155
    • Clark, W.A.1    Decker, M.L.2    Behnke-Barclay, M.3    Janes, D.M.4    Decker, R.S.5
  • 8
    • 0022993985 scopus 로고
    • Plakoglobin: a protein common to different kinds of intercellular adhering junctions
    • Cowin, P., Kapprell, H. P., Franke, W. W., Tamkun, J., and Hynes, R. O. (1986). Plakoglobin: a protein common to different kinds of intercellular adhering junctions. Cell 46, 1063-1073.
    • (1986) Cell , vol.46 , pp. 1063-1073
    • Cowin, P.1    Kapprell, H.P.2    Franke, W.W.3    Tamkun, J.4    Hynes, R.O.5
  • 11
    • 77952938686 scopus 로고    scopus 로고
    • Discovering the molecular components of intercellular junctions a historical view
    • Franke, W. W. (2009). Discovering the molecular components of intercellular junctions a historical view. Cold Spring Harb. Perspect. Biol. 1, a003061.
    • (2009) Cold Spring Harb. Perspect. Biol. , vol.1
    • Franke, W.W.1
  • 12
    • 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, W. W., Borrmann, C. M., Grund, C.,and Pieperhoff, S. (2006). 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. 85, 69-82.
    • (2006) Eur. J. Cell Biol. , vol.85 , pp. 69-82
    • Franke, W.W.1    Borrmann, C.M.2    Grund, C.3    and Pieperhoff, S.4
  • 13
    • 68349128540 scopus 로고    scopus 로고
    • The junctions that dont fit the scheme: special symmetrical cell-cell junctions of their own kind
    • Franke, W. W., Rickelt, S., Barth, M., and Pieperhoff, S. (2009). The junctions that dont fit the scheme: special symmetrical cell-cell junctions of their own kind. Cell Tissue Res. 338, 1-17.
    • (2009) Cell Tissue Res , vol.338 , pp. 1-17
    • Franke, W.W.1    Rickelt, S.2    Barth, M.3    Pieperhoff, S.4
  • 15
    • 33745848407 scopus 로고    scopus 로고
    • Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy
    • Garcia-Gras, E., Lombardi, R., Gio-condo, M. J., Willerson, J. T., Schneider, M. D., Khoury, D. S., and Marian, A. J. (2006). Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy. J. Clin. Invest. 116, 2012-2021.
    • (2006) J. Clin. Invest. , vol.116 , pp. 2012-2021
    • Garcia-Gras, E.1    Lombardi, R.2    Gio-condo, M.J.3    Willerson, J.T.4    Schneider, M.D.5    Khoury, D.S.6    Marian, A.J.7
  • 16
    • 34347364710 scopus 로고    scopus 로고
    • A unique and specific interaction between alphaT-catenin and plakophilin-2 in the area composita, the mixedtype junctional structure of cardiac intercalated discs
    • Goossens, S., Janssens, B., Bonne, S., De Rycke, R., Braet, F., van Hengel, J., and van Roy, F. (2007). A unique and specific interaction between alphaT-catenin and plakophilin-2 in the area composita, the mixedtype junctional structure of cardiac intercalated discs. J. Cell Sci. 120, 2126-2136.
    • (2007) J. Cell Sci. , vol.120 , pp. 2126-2136
    • Goossens, S.1    Janssens, B.2    Bonne, S.3    De Rycke, R.4    Braet, F.5    van Hengel, J.6    van Roy, F.7
  • 17
    • 61349136209 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare "disease of the desmosome" with multiple clinical presentations
    • Herren, T., Gerber, P. A., and Duru, F. (2009). Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare "disease of the desmosome" with multiple clinical presentations. Clin. Res. Cardiol. 98, 141-158.
    • (2009) Clin. Res. Cardiol. , vol.98 , pp. 141-158
    • Herren, T.1    Gerber, P.A.2    Duru, F.3
  • 19
    • 84866293227 scopus 로고
    • The story of the atrioventricular bundle with remarks concerning embryonic heart activity with remarks concerning embryonic heart movement in the adult
    • His, J. W. (1893). The story of the atrioventricular bundle with remarks concerning embryonic heart activity with remarks concerning embryonic heart movement in the adult. Arb. Med. Klin. Leipzig 4, 289-318.
    • (1893) Arb. Med. Klin. Leipzig , vol.4 , pp. 289-318
    • His, J.W.1
  • 23
    • 23944492092 scopus 로고    scopus 로고
    • Predictors of adverse outcome in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy: long term experience of a tertiary care centre
    • Lemola, K., Brunckhorst, C., Helfenstein, U., Oechslin, E., Jenni, R., and Duru, F. (2005). Predictors of adverse outcome in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy: long term experience of a tertiary care centre. Heart 91, 1167-1172.
    • (2005) Heart , vol.91 , pp. 1167-1172
    • Lemola, K.1    Brunckhorst, C.2    Helfenstein, U.3    Oechslin, E.4    Jenni, R.5    Duru, F.6
  • 24
    • 20344364185 scopus 로고    scopus 로고
    • Left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy-a scintigraphicandechocardiographic study
    • Lindstrom, L., Nylander, E., Larsson, H., and Wranne, B. (2005). Left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy a scintigraphicandechocardiographic study. Clin. Physiol. Funct. Imaging 25, 171-177.
    • (2005) Clin. Physiol. Funct. Imaging , vol.25 , pp. 171-177
    • Lindstrom, L.1    Nylander, E.2    Larsson, H.3    Wranne, B.4
  • 25
    • 84856102438 scopus 로고    scopus 로고
    • Nuclear plakoglobin is essential for differentiation of cardiac progenitor cells to adipocytes in arrhythmogenic right ventricular cardiomyopathy
    • Lombardi, R., da Graca Cabreira-Hansen, M., Bell, A., Fromm, R. R., Willerson, J. T., and Marian, A. J. (2011). Nuclear plakoglobin is essential for differentiation of cardiac progenitor cells to adipocytes in arrhythmogenic right ventricular cardiomyopathy. Circ. Res. 109, 1342-1353.
    • (2011) Circ. Res. , vol.109 , pp. 1342-1353
    • Lombardi, R.1    da Graca Cabreira-Hansen, M.2    Bell, A.3    Fromm, R.R.4    Willerson, J.T.5    Marian, A.J.6
  • 26
    • 77953708536 scopus 로고    scopus 로고
    • Cardiac arrhythmia: in vivo screening in the zebrafish to overcome complexity in drug discovery
    • Macrae, C. A. (2010). Cardiac arrhythmia: in vivo screening in the zebrafish to overcome complexity in drug discovery. Expert Opin. Drug Discov. 5, 619-632.
    • (2010) Expert Opin. Drug Discov. , vol.5 , pp. 619-632
    • Macrae, C.A.1
  • 27
    • 33745813864 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy: moving toward mechanism
    • MacRae, C. A., Birchmeier, W., and Thierfelder, L. (2006). Arrhythmogenic right ventricular cardiomyopathy: moving toward mechanism. J. Clin. Invest. 116, 1825-1828.
    • (2006) J. Clin. Invest. , vol.116 , pp. 1825-1828
    • MacRae, C.A.1    Birchmeier, W.2    Thierfelder, L.3
  • 28
    • 0013812371 scopus 로고
    • Sustained atrioventricular conduction delay due to interpolated ventricular premature systole
    • Mamlin, J. J., and Fisch, C. (1965). Sustained atrioventricular conduction delay due to interpolated ventricular premature systole. Am. J. Cardiol. 16, 765-766.
    • (1965) Am. J. Cardiol. , vol.16 , pp. 765-766
    • Mamlin, J.J.1    Fisch, C.2
  • 30
    • 77956062795 scopus 로고    scopus 로고
    • Genomewide association identifies a deletion in the 3 untranslated region of striatin in a canine model of arrhythmogenic right ventricular cardiomyopathy
    • Meurs, K. M., Mauceli, E., Lahmers, S., Acland, G. M., White, S. N., and Lindblad-Toh, K. (2010). Genomewide association identifies a deletion in the 3 untranslated region of striatin in a canine model of arrhythmogenic right ventricular cardiomyopathy. Hum. Genet. 128, 315-324.
    • (2010) Hum. Genet. , vol.128 , pp. 315-324
    • Meurs, K.M.1    Mauceli, E.2    Lahmers, S.3    Acland, G.M.4    White, S.N.5    Lindblad-Toh, K.6
  • 31
    • 79960011518 scopus 로고    scopus 로고
    • Establishment of the mouse ventricular conduction system
    • Miquerol, L., Beyer, S., and Kelly, R. G. (2011). Establishment of the mouse ventricular conduction system. Cardiovasc. Res. 91, 232-242.
    • (2011) Cardiovasc. Res. , vol.91 , pp. 232-242
    • Miquerol, L.1    Beyer, S.2    Kelly, R.G.3
  • 36
    • 77049120691 scopus 로고    scopus 로고
    • The area composita of adhering junctions connecting heart muscle cells of vertebrates VII. The different types of lateral junctions between the special cardiomyocytes of the conduction system of ovine and bovine hearts
    • Pieperhoff, S., Borrmann, C. M., Grund, C., Barth, M., Rizzo, S., and Franke, W. W. (2010b). The area composita of adhering junctions connecting heart muscle cells of vertebrates. VII. The different types of lateral junctions between the special cardiomyocytes of the conduction system of ovine and bovine hearts. Eur. J. Cell Biol. 89, 365-378.
    • (2010) Eur. J. Cell Biol. , vol.89 , pp. 365-378
    • Pieperhoff, S.1    Borrmann, C.M.2    Grund, C.3    Barth, M.4    Rizzo, S.5    Franke, W.W.6
  • 37
    • 34250811969 scopus 로고    scopus 로고
    • The area composita of adhering junctions connecting heart muscle cells of vertebrates IV. Coalescence and amalgamation of desmosomal and adhaerens junction components late processes in mammalian heart development
    • Pieperhoff, S.,and Franke, W.W. (2007). The area composita of adhering junctions connecting heart muscle cells of vertebrates. IV. Coalescence and amalgamation of desmosomal and adhaerens junction components late processes in mammalian heart development. Eur. J. Cell Biol. 86, 377-391.
    • (2007) Eur. J. Cell Biol. , vol.86 , pp. 377-391
    • Pieperhoff, S.1    Franke, W.W.2
  • 40
    • 0035113694 scopus 로고    scopus 로고
    • Naxos disease: keratoderma, scalp modifications, and cardiomyopathy
    • Protonotarios, N., Tsatsopoulou, A.,and Fontaine, G. (2001). Naxos disease: keratoderma, scalp modifications, and cardiomyopathy. J. Am. Acad. Dermatol. 44, 309-311.
    • (2001) J. Am. Acad. Dermatol. , vol.44 , pp. 309-311
    • Protonotarios, N.1    Tsatsopoulou, A.2    Fontaine, G.3
  • 41
    • 0000516182 scopus 로고
    • Mikroskopischneurologische Beobachtungen
    • Purkyne, J. E. (1845). Mikroskopischneurologische Beobachtungen. Arch. Anat. Physiol. Wiss. Med. 12, 281-295.
    • (1845) Arch. Anat. Physiol. Wiss. Med , vol.12 , pp. 281-295
    • Purkyne, J.E.1
  • 45
    • 84862764554 scopus 로고    scopus 로고
    • Mutations with pathogenic potential in proteins located in or at the composite junctions of the intercalated disk connecting mammalian cardiomyocytes: a reference thesaurus for arrhythmogenic cardiomyopathies as well as Naxos and Carvajal diseases
    • doi: 10.1007/s00441-012-1365-0
    • Rickelt, S. and Pieperhoff, S. (2012). Mutations with pathogenic potential in proteins located in or at the composite junctions of the intercalated disk connecting mammalian cardiomyocytes: a reference thesaurus for arrhythmogenic cardiomyopathies as well as Naxos and Carvajal diseases. Cell Tiss. Res. doi: 10.1007/s00441-012-1365-0
    • (2012) Cell Tiss. Res.
    • Rickelt, S.1    Pieperhoff, S.2
  • 46
    • 79960343991 scopus 로고    scopus 로고
    • Interactions between ankyrin-g, plakophilin-2, and connexin43 at the cardiac intercalated disc
    • Sato, P. Y., Coombs, W., Lin, X., Nekrasova, O., Green, K. J., Isom, L. L., Taffet, S. M., and Delmar, M. (2011). Interactions between ankyrin-g, plakophilin-2, and connexin43 at the cardiac intercalated disc. Circ. Res. 109, 193-201.
    • (2011) Circ. Res. , vol.109 , pp. 193-201
    • Sato, P.Y.1    Coombs, W.2    Lin, X.3    Nekrasova, O.4    Green, K.J.5    Isom, L.L.6    Taffet, S.M.7    Delmar, M.8
  • 47
    • 70349242035 scopus 로고    scopus 로고
    • Loss of plakophilin-2 expression leads to decreased sodium current and slower conduction velocity in cultured cardiac myocytes
    • Sato, P. Y., Musa, H., Coombs, W., Guerrero-Serna, G., Patino, G. A., Taffet, S. M., Isom, L. L., and Delmar, M. (2009). Loss of plakophilin-2 expression leads to decreased sodium current and slower conduction velocity in cultured cardiac myocytes. Circ. Res. 105, 523-526.
    • (2009) Circ. Res. , vol.105 , pp. 523-526
    • Sato, P.Y.1    Musa, H.2    Coombs, W.3    Guerrero-Serna, G.4    Patino, G.A.5    Taffet, S.M.6    Isom, L.L.7    Delmar, M.8
  • 49
    • 4844229637 scopus 로고    scopus 로고
    • Cytoarchitecture and intercalated disks of the working myocardium and the conduction system in the mammalian heart
    • Shimada, T., Kawazato, H., Yasuda, A., Ono, N., and Sueda, K. (2004). Cytoarchitecture and intercalated disks of the working myocardium and the conduction system in the mammalian heart. Anat. Rec. A Discov. Mol. Cell. Evol. Biol. 280, 940-951.
    • (2004) Anat. Rec. A Discov. Mol. Cell. Evol. Biol. , vol.280 , pp. 940-951
    • Shimada, T.1    Kawazato, H.2    Yasuda, A.3    Ono, N.4    Sueda, K.5
  • 50
    • 0003551450 scopus 로고
    • Eine anatomisch-histologische Studie über das Atrioventrikularbündel und die Purkinjeschen Fäden. Jena: Verlag von Gustav Fisher
    • Tawara, S. (1906). Das Reizleitungssystem des Säugetierherzens. Eine anatomisch-histologische Studie über das Atrioventrikularbündel und die Purkinjeschen Fäden. Jena: Verlag von Gustav Fisher.
    • (1906) Das Reizleitungssystem des Säugetierherzens
    • Tawara, S.1
  • 52
    • 38949159633 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy/dysplasia
    • Thiene, G., Corrado, D., and Basso, C. (2007). Arrhythmogenic right ventricular cardiomyopathy/dysplasia. Orphanet. J. Rare Dis. 2, 45.
    • (2007) Orphanet. J. Rare Dis. , vol.2 , pp. 45
    • Thiene, G.1    Corrado, D.2    Basso, C.3
  • 53
    • 0020593760 scopus 로고
    • Cardiac conduction system abnormalities as a possible cause of sudden death in young athletes
    • Thiene, G., Pennelli, N., and Rossi, L. (1983). Cardiac conduction system abnormalities as a possible cause of sudden death in young athletes. Hum. Pathol. 14, 707-709.
    • (1983) Hum. Pathol. , vol.14 , pp. 707-709
    • Thiene, G.1    Pennelli, N.2    Rossi, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.