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Volumn 9, Issue 9, 2000, Pages 1453-1459

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; LAMIN A; LAMIN C;

EID: 0034702027     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.9.1453     Document Type: Article
Times cited : (541)

References (37)
  • 4
    • 0032479445 scopus 로고    scopus 로고
    • Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A
    • Ono, Y., Shimada, H., Sorimachi, H., Richard, I., Saido, T.C., Beckmann, J.S., Ishiura, S. and Suzuki, K. (1998) Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A. J. Biol. Chem., 273, 17073-17078.
    • (1998) J. Biol. Chem. , vol.273 , pp. 17073-17078
    • Ono, Y.1    Shimada, H.2    Sorimachi, H.3    Richard, I.4    Saido, T.C.5    Beckmann, J.S.6    Ishiura, S.7    Suzuki, K.8
  • 10
    • 0030898109 scopus 로고    scopus 로고
    • Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21
    • van der Kooi, A.J., van Meegen, M., Ledderhof, T.M., McNally, E.M., de Visser, M. and Bolhuis. P.A. (1997) Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. Am. J. Hum. Genet., 60, 891-895.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 891-895
    • Van Der Kooi, A.J.1    Van Meegen, M.2    Ledderhof, T.M.3    McNally, E.M.4    De Visser, M.5    Bolhuis, P.A.6
  • 12
    • 0024419522 scopus 로고
    • Emery-Dreifuss syndrome
    • Emery, A.E. (1989) Emery-Dreifuss syndrome. J. Med. Genet., 26, 637-641.
    • (1989) J. Med. Genet. , vol.26 , pp. 637-641
    • Emery, A.E.1
  • 13
    • 0032907629 scopus 로고    scopus 로고
    • 60th ENMC international workshop: Non X-linked Emery-Dreifuss muscular dystrophy, 5-7 June 1998
    • Wehnert, M. and Muntoni, F. (1999) 60th ENMC International Workshop: Non X-linked Emery-Dreifuss muscular dystrophy, 5-7 June 1998. Neuromusc. Disord., 9, 115-120.
    • (1999) Neuromusc. Disord. , vol.9 , pp. 115-120
    • Wehnert, M.1    Muntoni, F.2
  • 14
    • 0022648101 scopus 로고
    • Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins
    • McKeon, F.D., Kirschner, M.W. and Caput, D. (1986) Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins. Nature, 319, 463-468.
    • (1986) Nature , vol.319 , pp. 463-468
    • McKeon, F.D.1    Kirschner, M.W.2    Caput, D.3
  • 15
    • 0023032014 scopus 로고
    • cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins
    • Fisher, D.Z., Chaudhary, N. and Blobel, G. (1986) cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins. Proc. Natl Acad. Sci. USA, 83, 6450-6454.
    • (1986) Proc. Natl Acad. Sci. USA , vol.83 , pp. 6450-6454
    • Fisher, D.Z.1    Chaudhary, N.2    Blobel, G.3
  • 16
    • 0025149541 scopus 로고
    • The lamin B receptor of the nuclear envelope inner membrane: A polytopic protein with eight potential transmembrane domains
    • Worman, H.J., Evans, C.D. and Blobel, G. (1990) The lamin B receptor of the nuclear envelope inner membrane: a polytopic protein with eight potential transmembrane domains. J. Cell Biol., 111, 1535-1542.
    • (1990) J. Cell Biol. , vol.111 , pp. 1535-1542
    • Worman, H.J.1    Evans, C.D.2    Blobel, G.3
  • 17
    • 0028989340 scopus 로고
    • Cloning of a cDNA for lamina-associated polypeptide 2 (LAP2) and identification of regions that specify targeting to the nuclear envelope
    • Furukawa, K., Pante, N., Aebi, U. and Gerace, L. (1995) Cloning of a cDNA for lamina-associated polypeptide 2 (LAP2) and identification of regions that specify targeting to the nuclear envelope. EMBO J., 14, 1626-1636.
    • (1995) EMBO J. , vol.14 , pp. 1626-1636
    • Furukawa, K.1    Pante, N.2    Aebi, U.3    Gerace, L.4
  • 18
    • 0027442899 scopus 로고
    • The alpha-helical rod domain of human lamins A and C contains a chromatin binding site
    • Glass, C.A., Glass, J.R., Taniura, H., Hasel, K.W., Blevitt, J.M. and Gerace, L. (1993) The alpha-helical rod domain of human lamins A and C contains a chromatin binding site. EMBO J., 12, 4413-4424.
    • (1993) EMBO J. , vol.12 , pp. 4413-4424
    • Glass, C.A.1    Glass, J.R.2    Taniura, H.3    Hasel, K.W.4    Blevitt, J.M.5    Gerace, L.6
  • 19
    • 0029100609 scopus 로고
    • A chromatin binding site in the tail domain of nuclear lamins that interacts with core histones
    • Taniura, H., Glass, C. and Gerace, L. (1995) A chromatin binding site in the tail domain of nuclear lamins that interacts with core histones. J. Cell Biol., 131, 33-44.
    • (1995) J. Cell Biol. , vol.131 , pp. 33-44
    • Taniura, H.1    Glass, C.2    Gerace, L.3
  • 20
    • 0025352896 scopus 로고
    • Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis
    • Heald, R. and McKeon, F. (1990) Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis. Cell, 61, 579-589.
    • (1990) Cell , vol.61 , pp. 579-589
    • Heald, R.1    McKeon, F.2
  • 21
    • 0028279523 scopus 로고
    • Epidermal disease: Faulty keratin filaments take their toll
    • Compton, J.G. (1994) Epidermal disease: faulty keratin filaments take their toll. Nature Genet., 6, 6-7.
    • (1994) Nature Genet. , vol.6 , pp. 6-7
    • Compton, J.G.1
  • 22
    • 0030455978 scopus 로고    scopus 로고
    • Human keratin diseases: Hereditary fragility of specific epithelial tissues
    • Corden, L.D. and McLean, W.H. (1996) Human keratin diseases: hereditary fragility of specific epithelial tissues. Exp. Dermatol., 5, 297-307.
    • (1996) Exp. Dermatol. , vol.5 , pp. 297-307
    • Corden, L.D.1    McLean, W.H.2
  • 23
    • 0024064963 scopus 로고
    • Mutations in the nuclear lamin proteins resulting in their aberrant assembly in the cytoplasm
    • Loewinger, L. and McKeon, F. (1988) Mutations in the nuclear lamin proteins resulting in their aberrant assembly in the cytoplasm. EMBO J., 7, 2301-2309.
    • (1988) EMBO J. , vol.7 , pp. 2301-2309
    • Loewinger, L.1    McKeon, F.2
  • 25
    • 0024380341 scopus 로고
    • Emery-Dreifuss muscular dystrophy and other related disorders
    • Emery, A.E.H. (1989) Emery-Dreifuss muscular dystrophy and other related disorders. Br. Med. Bull., 45, 772-787.
    • (1989) Br. Med. Bull. , vol.45 , pp. 772-787
    • Emery, A.E.H.1
  • 26
    • 0026377661 scopus 로고
    • European workshop on Emery-Dreifuss muscular dystrophy 1991
    • Yates, J.R.W. (1991) European workshop on Emery-Dreifuss muscular dystrophy 1991. Neuromusc. Disord., 1, 393-396.
    • (1991) Neuromusc. Disord. , vol.1 , pp. 393-396
    • Yates, J.R.W.1
  • 28
    • 0029845713 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype
    • Weiler, T., Greenberg, C.R., Nylen, E., Halliday, W., Morgan, K., Eggertson, D. and Wrogemann, K. (1996) Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am. J. Hum. Genet., 59, 872-878.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 872-878
    • Weiler, T.1    Greenberg, C.R.2    Nylen, E.3    Halliday, W.4    Morgan, K.5    Eggertson, D.6    Wrogemann, K.7
  • 32
    • 0034620567 scopus 로고    scopus 로고
    • Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
    • Brodsky, G.L., Muntoni, F., Miocic, S., Sinagra, G., Sewry, C. and Mestroni, L. (2000) Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation, 101, 473-476.
    • (2000) Circulation , vol.101 , pp. 473-476
    • Brodsky, G.L.1    Muntoni, F.2    Miocic, S.3    Sinagra, G.4    Sewry, C.5    Mestroni, L.6
  • 34
    • 0034059075 scopus 로고    scopus 로고
    • Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
    • Cao, H. and Hegele, R.A. (2000) Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum. Mol. Genet., 9, 109-112.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 109-112
    • Cao, H.1    Hegele, R.A.2
  • 36
    • 0027257461 scopus 로고
    • Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
    • Lin, F. and Worman, H.J. (1993) Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J. Biol. Chem., 268, 16321-16326.
    • (1993) J. Biol. Chem. , vol.268 , pp. 16321-16326
    • Lin, F.1    Worman, H.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.