메뉴 건너뛰기




Volumn 264, Issue , 2005, Pages 81-90

Genetics of laminopathies

Author keywords

[No Author keywords available]

Indexed keywords


EID: 56249128255     PISSN: 15282511     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Conference Paper
Times cited : (7)

References (36)
  • 1
    • 0041919374 scopus 로고    scopus 로고
    • Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia
    • Agarwal AK, Fryns JP, Auchus RJ, Garg A 2003 Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet 12:1995-2001
    • (2003) Hum Mol Genet , vol.12 , pp. 1995-2001
    • Agarwal, A.K.1    Fryns, J.P.2    Auchus, R.J.3    Garg, A.4
  • 2
    • 0033636387 scopus 로고    scopus 로고
    • High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation
    • Bécane H-M, Bonne G, Varnous S et al 2000 High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation. Pacing Clin Electrophysiol 23:1661-1666
    • (2000) Pacing Clin Electrophysiol , vol.23 , pp. 1661-1666
    • Bécane, H.-M.1    Bonne, G.2    Varnous, S.3
  • 3
    • 0027985787 scopus 로고
    • Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
    • Bione S, Maestrini E, Rivella S et al 1994 Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 8:323-327
    • (1994) Nat Genet , vol.8 , pp. 323-327
    • Bione, S.1    Maestrini, E.2    Rivella, S.3
  • 4
    • 1342284873 scopus 로고    scopus 로고
    • LMNA mutations in atypical Werner's syndrome
    • Bonne G, Levy N 2003 LMNA mutations in atypical Werner's syndrome. Lancet 362:1585-1586
    • (2003) Lancet , vol.362 , pp. 1585-1586
    • Bonne, G.1    Levy, N.2
  • 5
    • 0032977685 scopus 로고    scopus 로고
    • Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
    • Bonne G, Di Barletta MR, Varnous S et al 1999 Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 21:285-288
    • (1999) Nat Genet , vol.21 , pp. 285-288
    • Bonne, G.1    Di Barletta, M.R.2    Varnous, S.3
  • 6
    • 0042164479 scopus 로고    scopus 로고
    • Bonne G, Ben Yaou R, Beroud C et al 2003 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. Neuromusc Disord 13:508-515
    • Bonne G, Ben Yaou R, Beroud C et al 2003 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. Neuromusc Disord 13:508-515
  • 7
    • 0034620567 scopus 로고    scopus 로고
    • Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
    • Brodsky GL, Muntoni F, Miocic S et al 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
  • 8
    • 0035451481 scopus 로고    scopus 로고
    • Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy
    • Brown CA, Lanning RW, McKinney KQ et al 2001 Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. Am J Med Genet 102:359-367
    • (2001) Am J Med Genet , vol.102 , pp. 359-367
    • Brown, C.A.1    Lanning, R.W.2    McKinney, K.Q.3
  • 9
    • 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
  • 10
    • 0037405331 scopus 로고    scopus 로고
    • Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype
    • Charniot JC, Pascal C, Bouchier C et al 2003 Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype. Hum Mutat 21:473-481
    • (2003) Hum Mutat , vol.21 , pp. 473-481
    • Charniot, J.C.1    Pascal, C.2    Bouchier, C.3
  • 11
    • 0042736696 scopus 로고    scopus 로고
    • LMNA mutations in atypical Werner's syndrome
    • Chen L, Lee L, Kudlow B 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.3
  • 12
    • 10744229294 scopus 로고    scopus 로고
    • Lamin A truncation in Hutchinson-Gilford progeria
    • De Sandre-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
    • De Sandre-Giovannoli, A.1    Bernard, R.2    Cau, P.3
  • 13
    • 0036178210 scopus 로고    scopus 로고
    • Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth Disorder Type 2) and mouse
    • De Sandre-Giovannoli A, Chaouch M, Kozlov S et al 2002 Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth Disorder Type 2) and mouse. Am J Hum Genet 70:726-736
    • (2002) Am J Hum Genet , vol.70 , pp. 726-736
    • De Sandre-Giovannoli, A.1    Chaouch, M.2    Kozlov, S.3
  • 14
    • 0033927867 scopus 로고    scopus 로고
    • Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
    • di Barletta MR, Ricci E, Galluzzi G et al 2000 Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 66:1407-1412
    • (2000) Am J Hum Genet , vol.66 , pp. 1407-1412
    • di Barletta, M.R.1    Ricci, E.2    Galluzzi, G.3
  • 15
    • 0034213873 scopus 로고    scopus 로고
    • Emery-Dreifuss muscular dystrophy - a 40 year retrospective
    • Emery AEH 2000 Emery-Dreifuss muscular dystrophy - a 40 year retrospective. Neuromusc Disord 10:228-232
    • (2000) Neuromusc Disord , vol.10 , pp. 228-232
    • Emery, A.E.H.1
  • 16
    • 0345288691 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 25:25
    • (2003) Nature , vol.25 , pp. 25
    • Eriksson, M.1    Brown, W.T.2    Gordon, L.B.3
  • 17
    • 0033518282 scopus 로고    scopus 로고
    • Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
    • Fatkin D, MacRae C, Sasaki T et al 1999 Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 341:1715-1724
    • (1999) N Engl J Med , vol.341 , pp. 1715-1724
    • Fatkin, D.1    MacRae, C.2    Sasaki, T.3
  • 18
    • 10744225680 scopus 로고    scopus 로고
    • Apical left ventricular aneurysm without atrioventricular block due to a lamin A/C gene mutation
    • Forissier JF, Bonne G, Bouchier C et al 2003 Apical left ventricular aneurysm without atrioventricular block due to a lamin A/C gene mutation. Eur J Heart Fail 5:821-825
    • (2003) Eur J Heart Fail , vol.5 , pp. 821-825
    • Forissier, J.F.1    Bonne, G.2    Bouchier, C.3
  • 19
    • 0036098280 scopus 로고    scopus 로고
    • Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene
    • Garg A, Speckman RA, Bowcock AM 2002 Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. Am J Med 112:549-555
    • (2002) Am J Med , vol.112 , pp. 549-555
    • Garg, A.1    Speckman, R.A.2    Bowcock, A.M.3
  • 20
    • 2942608209 scopus 로고    scopus 로고
    • A new mutation of lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease and leukonychia
    • Goizet C, Ben Yaou R, Demay L et al 2004 A new mutation of lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease and leukonychia. J Med Genet 41:e39
    • (2004) J Med Genet , vol.41
    • Goizet, C.1    Ben Yaou, R.2    Demay, L.3
  • 21
    • 0036699522 scopus 로고    scopus 로고
    • Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly)
    • Hoffmann K, Dreger CK, Olins AL et al 2002 Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly). Nat Genet 31:410-414
    • (2002) Nat Genet , vol.31 , pp. 410-414
    • Hoffmann, K.1    Dreger, C.K.2    Olins, A.L.3
  • 22
    • 0010397284 scopus 로고    scopus 로고
    • The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein
    • Manilal S, Nguyen TM, Sewry CA, Morris GE 1996 The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet 5:801-808
    • (1996) Hum Mol Genet , vol.5 , pp. 801-808
    • Manilal, S.1    Nguyen, T.M.2    Sewry, C.A.3    Morris, G.E.4
  • 23
    • 0034702027 scopus 로고    scopus 로고
    • Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
    • Muchir A, Bonne G, van der Kooi AJ et al 2000 Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 9:1453-1459
    • (2000) Hum Mol Genet , vol.9 , pp. 1453-1459
    • Muchir, A.1    Bonne, G.2    van der Kooi, A.J.3
  • 24
    • 0344309291 scopus 로고    scopus 로고
    • Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene
    • Muchir A, van Engelen BG, Lammens M et al 2003 Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene. Exp Cell Res 291:352-362
    • (2003) Exp Cell Res , vol.291 , pp. 352-362
    • Muchir, A.1    van Engelen, B.G.2    Lammens, M.3
  • 25
    • 4644222709 scopus 로고    scopus 로고
    • Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations
    • Muchir A, Medioni J, Laluc M et al 2004 Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. Muscle Nerve 30:444-450
    • (2004) Muscle Nerve , vol.30 , pp. 444-450
    • Muchir, A.1    Medioni, J.2    Laluc, M.3
  • 26
    • 12244293441 scopus 로고    scopus 로고
    • Mandibuloacral dysplasia is caused by a mutation in LMNA encoding lamins A/C
    • Novelli G, Muchir A, Sangiuolo F et al 2002 Mandibuloacral dysplasia is caused by a mutation in LMNA encoding lamins A/C. Am J Hum Genet 71:426-431
    • (2002) Am J Hum Genet , vol.71 , pp. 426-431
    • Novelli, G.1    Muchir, A.2    Sangiuolo, F.3
  • 27
    • 0037382801 scopus 로고    scopus 로고
    • Nuclear envelope proteins and neuromuscular diseases
    • Ostlund C, Worman HJ 2003 Nuclear envelope proteins and neuromuscular diseases. Muscle Nerve 27:393-406
    • (2003) Muscle Nerve , vol.27 , pp. 393-406
    • Ostlund, C.1    Worman, H.J.2
  • 28
    • 0042327845 scopus 로고    scopus 로고
    • Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations
    • Sebillon P, Bouchier C, Bidot LD et al 2003 Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. J Med Genet 40:560-567
    • (2003) J Med Genet , vol.40 , pp. 560-567
    • Sebillon, P.1    Bouchier, C.2    Bidot, L.D.3
  • 29
    • 0034864629 scopus 로고    scopus 로고
    • Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations
    • Sewry CA, Brown SC, Mercuri E et al 2001 Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations. Neuropathol Appl Neurobiol 27:281-290
    • (2001) Neuropathol Appl Neurobiol , vol.27 , pp. 281-290
    • Sewry, C.A.1    Brown, S.C.2    Mercuri, E.3
  • 30
    • 0033951216 scopus 로고    scopus 로고
    • LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
    • Shackleton S, Lloyd DJ, Jackson SN et al 2000 LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet 24:153-156
    • (2000) Nat Genet , vol.24 , pp. 153-156
    • Shackleton, S.1    Lloyd, D.J.2    Jackson, S.N.3
  • 31
    • 0037420074 scopus 로고    scopus 로고
    • Natural history of dilated cardiomyopathy due to lamin A/C gene mutations
    • Taylor MR, Fain PR, Sinagra G et al 2003 Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am Coll Cardiol 41:771-780
    • (2003) J Am Coll Cardiol , vol.41 , pp. 771-780
    • Taylor, M.R.1    Fain, P.R.2    Sinagra, G.3
  • 32
    • 0037183491 scopus 로고    scopus 로고
    • Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy
    • van der Kooi AJ, Bonne G, Eymard B et al 2002 Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology 59:620-623
    • (2002) Neurology , vol.59 , pp. 620-623
    • van der Kooi, A.J.1    Bonne, G.2    Eymard, B.3
  • 34
    • 0035691915 scopus 로고    scopus 로고
    • Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in lamin A/C gene
    • Vigouroux C, Auclair M, Dubosclard E et al 2001 Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in lamin A/C gene. J Cell Sci 114:4459-4468
    • (2001) J Cell Sci , vol.114 , pp. 4459-4468
    • Vigouroux, C.1    Auclair, M.2    Dubosclard, E.3
  • 35
    • 1542437955 scopus 로고    scopus 로고
    • Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes
    • Vytopil M, Benedetti S, Ricci E et al 2003 Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. J Med Genet 40:e132
    • (2003) J Med Genet , vol.40
    • Vytopil, M.1    Benedetti, S.2    Ricci, E.3
  • 36
    • 0345535128 scopus 로고    scopus 로고
    • Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene
    • Waterham HR, Koster J, Mooyer P et al 2003 Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. Am J Hum Genet 72:1013-1017
    • (2003) Am J Hum Genet , vol.72 , pp. 1013-1017
    • Waterham, H.R.1    Koster, J.2    Mooyer, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.