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Volumn 264, Issue , 2005, Pages 197-202

LMNA mutations in progeroid syndromes

Author keywords

[No Author keywords available]

Indexed keywords

LAMIN A;

EID: 16244363316     PISSN: 15282511     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Conference Paper
Times cited : (7)

References (15)
  • 1
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    • Human mutation affecting aging - a review
    • Brown WT 1979 Human mutation affecting aging - a review. Mech Ageing Dev 9:325-336
    • (1979) Mech Ageing Dev , vol.9 , pp. 325-336
    • Brown, W.T.1
  • 2
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    • Life at the edge: The nuclear envelope and human disease
    • Burke B, Stewart CL 2002 Life at the edge: the nuclear envelope and human disease. Nat Rev Mol Cell Biol 3:575-585
    • (2002) Nat Rev Mol Cell Biol , vol.3 , pp. 575-585
    • Burke, B.1    Stewart, C.L.2
  • 3
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    • LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)
    • Cao H, Hegele RA 2003 LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J Hum Genet 48:271-274
    • (2003) J Hum Genet , vol.48 , pp. 271-274
    • Cao, H.1    Hegele, R.A.2
  • 4
    • 0037342243 scopus 로고    scopus 로고
    • A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy
    • Caux F, Dubosclard E, Lascols O et al 2003 A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy. J Clin Endocrinol Metab 88:1006-1013
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 1006-1013
    • Caux, F.1    Dubosclard, E.2    Lascols, O.3
  • 6
    • 0042736696 scopus 로고    scopus 로고
    • LMNA mutations in atypical Werner's syndrome
    • Chen L, Lee L, Kudlow BA et al 2003 LMNA mutations in atypical Werner's syndrome. Lancet 362:440-445
    • (2003) Lancet , vol.362 , pp. 440-445
    • Chen, L.1    Lee, L.2    Kudlow, B.A.3
  • 7
    • 10744229294 scopus 로고    scopus 로고
    • Lamin a truncation in Hutchinson-Gilford progeria
    • DeSandre-Giovannoli A, Bernard R, Cau P et al 2003 Lamin a truncation in Hutchinson-Gilford progeria. Science 300:2055
    • (2003) Science , vol.300 , pp. 2055
    • DeSandre-Giovannoli, A.1    Bernard, R.2    Cau, P.3
  • 8
    • 0013907774 scopus 로고
    • Werner's syndrome: A review of its symptomatology, natural history, pathologic features, genetics and relationships to the natural aging process
    • Epstein CJ, Martin GM, Schultz AL, Motulsky AG 1966 Werner's syndrome: a review of its symptomatology, natural history, pathologic features, genetics and relationships to the natural aging process. Medicine 45:172-221
    • (1966) Medicine , vol.45 , pp. 172-221
    • Epstein, C.J.1    Martin, G.M.2    Schultz, A.L.3    Motulsky, A.G.4
  • 9
    • 0037673950 scopus 로고    scopus 로고
    • Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
    • Eriksson M, Brown WT, Gordon LB et al 2003 Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423:293-298
    • (2003) Nature , vol.423 , pp. 293-298
    • Eriksson, M.1    Brown, W.T.2    Gordon, L.B.3
  • 10
    • 3042850660 scopus 로고    scopus 로고
    • LMNA mutation in a 45-year old Japanese with Hutchinson-Gilford progeria syndrome
    • Fukuchi K-I, Katsuya T, Sugimoto K et al 2004 LMNA mutation in a 45-year old Japanese with Hutchinson-Gilford progeria syndrome. J Med Genet 41:e67
    • (2004) J Med Genet , vol.41
    • Fukuchi, K.-I.1    Katsuya, T.2    Sugimoto, K.3
  • 11
    • 0022317420 scopus 로고
    • Clinical, endocrine and metabolic aspects of the Werner syndrome compared with normal aging
    • Salk D, Fujiwara Y, Martin GM eds, Plenum Press, New York, p
    • Imura H, Nakao, Kuzuya H, Okamoto M, Okamoto M, Yamada Y 1985 Clinical, endocrine and metabolic aspects of the Werner syndrome compared with normal aging. In: Salk D, Fujiwara Y, Martin GM (eds) Werner's syndrome and aging. Vol 190. Plenum Press, New York, p171-186
    • (1985) Werner's syndrome and aging , vol.190 , pp. 171-186
    • Imura, H.1    Nakao2    Kuzuya, H.3    Okamoto, M.4    Okamoto, M.5    Yamada, Y.6
  • 12
    • 0034669029 scopus 로고    scopus 로고
    • Nuclear organization of DNA replication in primary mammalian cells
    • Kennedy BK, Barbie DA, Classon M, Dyson N, Harlow E 2000 Nuclear organization of DNA replication in primary mammalian cells. Genes Dev 14:2855-2868
    • (2000) Genes Dev , vol.14 , pp. 2855-2868
    • Kennedy, B.K.1    Barbie, D.A.2    Classon, M.3    Dyson, N.4    Harlow, E.5
  • 13
    • 0022477349 scopus 로고
    • Hutchinson-Gilford progeria syndrome in a 45-year-old man
    • Ogihara T, Hata T, Tanaka K et al 1986 Hutchinson-Gilford progeria syndrome in a 45-year-old man. Am J Med 81:135-138
    • (1986) Am J Med , vol.81 , pp. 135-138
    • Ogihara, T.1    Hata, T.2    Tanaka, K.3
  • 14
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    • LMNA mutations in atypical Werner's syndrome. (authors' reply)
    • Oshima A, Garg A, Martin GM, Kennedy BK 2003 LMNA mutations in atypical Werner's syndrome. (authors' reply) Lancet 362:1586
    • (2003) Lancet , vol.362 , pp. 1586
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  • 15
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    • The processing pathway of prelamin A
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.