메뉴 건너뛰기




Volumn 344, Issue 1, 2006, Pages 17-24

Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect

Author keywords

Dilated cardiomyopathy; Lamin A C gene; Mutation

Indexed keywords

EMERIN; LAMININ;

EID: 33646486276     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2006.03.149     Document Type: Article
Times cited : (14)

References (34)
  • 3
    • 0024422923 scopus 로고
    • Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984
    • Codd M.B., Sugrue D.D., Gersh B.J., and Melton L.J. Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984. Circulation 80 (1989) 564-572
    • (1989) Circulation , vol.80 , pp. 564-572
    • Codd, M.B.1    Sugrue, D.D.2    Gersh, B.J.3    Melton, L.J.4
  • 7
    • 85047692354 scopus 로고    scopus 로고
    • How do mutations in lamins A and C cause disease?
    • Worman H.J., and Courvalin J.C. How do mutations in lamins A and C cause disease?. J. Clin. Invest. 113 (2004) 349-351
    • (2004) J. Clin. Invest. , vol.113 , pp. 349-351
    • Worman, H.J.1    Courvalin, J.C.2
  • 8
    • 0027257461 scopus 로고
    • Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
    • Lin F., and Worman H.J. Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J. Biol. Chem. 268 (1993) 16321-16326
    • (1993) J. Biol. Chem. , vol.268 , pp. 16321-16326
    • Lin, F.1    Worman, H.J.2
  • 9
    • 0035153087 scopus 로고    scopus 로고
    • Lamins in disease: why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes?
    • Hutchison C.J., Alvarez-Reyes M., and Vaughan O.A. Lamins in disease: why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes?. J. Cell Sci. 114 (2001) 9-19
    • (2001) J. Cell Sci. , vol.114 , pp. 9-19
    • Hutchison, C.J.1    Alvarez-Reyes, M.2    Vaughan, O.A.3
  • 10
    • 0031686054 scopus 로고    scopus 로고
    • Nuclear lamins: their structure, assembly, and interactions
    • Stuurman N., Heins S., and Aebi U. Nuclear lamins: their structure, assembly, and interactions. J. Struct. Biol. 122 (1998) 42-66
    • (1998) J. Struct. Biol. , vol.122 , pp. 42-66
    • Stuurman, N.1    Heins, S.2    Aebi, U.3
  • 12
    • 0034176682 scopus 로고    scopus 로고
    • The nuclear envelope, muscular dystrophy and gene expression
    • Wilson K.L. The nuclear envelope, muscular dystrophy and gene expression. Trends Cell Biol. 10 (2000) 125-129
    • (2000) Trends Cell Biol. , vol.10 , pp. 125-129
    • Wilson, K.L.1
  • 16
    • 0036911038 scopus 로고    scopus 로고
    • A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation
    • Hershberger R.E., Hanson E.L., Jakobs P.M., Keegan H., Coates K., Bousman S., and Litt M. A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation. Am. Heart J. 144 (2002) 1081-1086
    • (2002) Am. Heart J. , vol.144 , pp. 1081-1086
    • Hershberger, R.E.1    Hanson, E.L.2    Jakobs, P.M.3    Keegan, H.4    Coates, K.5    Bousman, S.6    Litt, M.7
  • 19
    • 0034536268 scopus 로고    scopus 로고
    • Mutations in the LMNA gene encoding lamin A/C
    • Genschel J., and Schmidt H.H. Mutations in the LMNA gene encoding lamin A/C. Hum. Mutat. 16 (2000) 451-459
    • (2000) Hum. Mutat. , vol.16 , pp. 451-459
    • Genschel, J.1    Schmidt, H.H.2
  • 22
    • 0018093261 scopus 로고
    • Immunocytochemical localization of the major polypeptides of the nuclear pore complex-lamina fraction. Interphase and mitotic distribution
    • Gerace L., Blum A., and Blobel G. Immunocytochemical localization of the major polypeptides of the nuclear pore complex-lamina fraction. Interphase and mitotic distribution. J. Cell Biol. 79 (1978) 546-566
    • (1978) J. Cell Biol. , vol.79 , pp. 546-566
    • Gerace, L.1    Blum, A.2    Blobel, G.3
  • 24
  • 27
    • 0345084450 scopus 로고    scopus 로고
    • Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD)
    • Fidzianska A., Toniolo D., and Hausmanowa-Petrusewicz I. Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD). J. Neurol. Sci. 159 (1998) 88-93
    • (1998) J. Neurol. Sci. , vol.159 , pp. 88-93
    • Fidzianska, A.1    Toniolo, D.2    Hausmanowa-Petrusewicz, I.3
  • 29
    • 0030863126 scopus 로고    scopus 로고
    • Disruption of nuclear lamin organization alters the distribution of replication factors and inhibits DNA synthesis
    • Spann T.P., Moir R.D., Goldman A.E., Stick R., and Goldman R.D. Disruption of nuclear lamin organization alters the distribution of replication factors and inhibits DNA synthesis. J. Cell Biol. 136 (1997)
    • (1997) J. Cell Biol. , vol.136
    • Spann, T.P.1    Moir, R.D.2    Goldman, A.E.3    Stick, R.4    Goldman, R.D.5
  • 31
    • 0035697055 scopus 로고    scopus 로고
    • Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy
    • Ostlund C., Bonne G., Schwartz K., and Worman H.J. Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. J. Cell Sci. 114 (2001) 4435-4445
    • (2001) J. Cell Sci. , vol.114 , pp. 4435-4445
    • Ostlund, C.1    Bonne, G.2    Schwartz, K.3    Worman, H.J.4
  • 32
    • 0032778974 scopus 로고    scopus 로고
    • LAP2 binding protein 1 (L2BP1/BAF) is a candidate mediator of LAP2-chromatin interaction
    • Furukawa K. LAP2 binding protein 1 (L2BP1/BAF) is a candidate mediator of LAP2-chromatin interaction. J. Cell Sci. 112 Pt. 15 (1999) 2485-2492
    • (1999) J. Cell Sci. , vol.112 , Issue.PART 15 , pp. 2485-2492
    • Furukawa, K.1
  • 33
    • 0034213121 scopus 로고    scopus 로고
    • Nuclear proteins and cell death in inherited neuromuscular disease
    • Morris G.E. Nuclear proteins and cell death in inherited neuromuscular disease. Neuromuscul. Disord. 10 (2000) 217-227
    • (2000) Neuromuscul. Disord. , vol.10 , pp. 217-227
    • Morris, G.E.1
  • 34
    • 0035831041 scopus 로고    scopus 로고
    • Lamins and disease: insights into nuclear infrastructure
    • Wilson K.L., Zastrow M.S., and Lee K.K. Lamins and disease: insights into nuclear infrastructure. Cell 104 (2001) 647-650
    • (2001) Cell , vol.104 , pp. 647-650
    • Wilson, K.L.1    Zastrow, M.S.2    Lee, K.K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.