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Volumn 39, Issue 6, 2011, Pages 1687-1692

Clinical and genetic heterogeneity in laminopathies

Author keywords

Lamin A C; Laminopathy; LMNA; Mutation database

Indexed keywords

ARGININE; GLUTAMINE; GLYCINE; LAMIN A; LAMIN C; LEUCINE; LMNA PROTEIN; PEPTIDES AND PROTEINS; TRYPTOPHAN; UNCLASSIFIED DRUG;

EID: 81855220964     PISSN: 03005127     EISSN: 14708752     Source Type: Journal    
DOI: 10.1042/BST20110670     Document Type: Conference Paper
Times cited : (86)

References (50)
  • 1
    • 33745915850 scopus 로고    scopus 로고
    • Nuclear lamins: Laminopathies and their role in premature ageing
    • DOI 10.1152/physrev.00047.2005
    • Broers, J., Ramaekers, F., Bonne, G., Ben Yaou, R. and Hutchison, C. (2006) The nuclear lamins: laminopathies and their role in premature ageing. Physiol. Rev. 86, 967-1008 (Pubitemid 44042881)
    • (2006) Physiological Reviews , vol.86 , Issue.3 , pp. 967-1008
    • Broers, J.L.V.1    Ramaekers, F.C.S.2    Bonne, G.3    Ben, Y.R.4    Hutchison, C.J.5
  • 2
    • 33748993124 scopus 로고    scopus 로고
    • Molecular bases of progeroid syndromes
    • DOI 10.1093/hmg/ddl214
    • Navarro, C.L., Cau, P. and Lévy, N. (2006) Molecular bases of progeroid syndromes. Hum. Mol. Genet. 15 (Suppl. 2), R151-R161 (Pubitemid 44446788)
    • (2006) Human Molecular Genetics , vol.15 , Issue.SUPPL. 2
    • Navarro, C.L.1    Cau, P.2    Levy, N.3
  • 5
    • 34249788998 scopus 로고    scopus 로고
    • "Laminopathies": A wide spectrum of human diseases
    • DOI 10.1016/j.yexcr.2007.03.028, PII S0014482707001279
    • Worman, H.J. and Bonne, G. (2007) "Laminopathies": a wide spectrum of human diseases. Exp. Cell Res. 313, 2121-2133 (Pubitemid 46850729)
    • (2007) Experimental Cell Research , vol.313 , Issue.10 , pp. 2121-2133
    • Worman, H.J.1    Bonne, G.2
  • 9
    • 0034213873 scopus 로고    scopus 로고
    • Emery-Dreifuss muscular dystrophy: A 40 year retrospective
    • Emery, A.E.H. (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
  • 10
  • 12
    • 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, A.J., van Meegen, M., Baas, F., Bolhuis, P.A., de Visser, M. and Schwartz, K. (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 (Pubitemid 30312494)
    • (2000) Human Molecular Genetics , vol.9 , Issue.9 , pp. 1453-1459
    • Muchir, A.1    Bonne, G.2    Van Der, K.A.J.3    Van Meegen, M.4    Baas, F.5    Bolhuis, P.A.6    De Visser, M.7    Schwartz, K.8
  • 15
    • 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 (Pubitemid 30080859)
    • (2000) Circulation , vol.101 , Issue.5 , pp. 473-476
    • Brodsky, G.L.1    Muntoni, F.2    Miocic, S.3    Sinagra, G.4    Sewry, C.5    Mestroni, L.6
  • 20
    • 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 (Pubitemid 30145295)
    • (2000) Human Molecular Genetics , vol.9 , Issue.1 , pp. 109-112
    • Cao, H.1    Hegele, R.A.2
  • 22
    • 0033755274 scopus 로고    scopus 로고
    • Lamin A/C gene: Sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy
    • Vigouroux, C., Magre, J., Vantyghem, M.C., Bourut, C., Lascols, O., Shackleton, S., Lloyd, D.J., Guerci, B., Padova, G., Valensi, P. et al. (2000) Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy. Diabetes 49, 1958-1962
    • (2000) Diabetes , vol.49 , pp. 1958-1962
    • Vigouroux, C.1    Magre, J.2    Vantyghem, M.C.3    Bourut, C.4    Lascols, O.5    Shackleton, S.6    Lloyd, D.J.7    Guerci, B.8    Padova, G.9    Valensi, P.10
  • 31
    • 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
    • DOI 10.1016/j.yexcr.2003.07.002
    • Muchir, A., van Engelen, B.G., Lammens, M., Mislow, J.M., McNally, E., Schwartz, K. and Bonne, G. (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 (Pubitemid 37492866)
    • (2003) Experimental Cell Research , vol.291 , Issue.2 , pp. 352-362
    • Muchir, A.1    Van Engelen, B.G.2    Lammens, M.3    Mislow, J.M.4    McNally, E.5    Schwartz, K.6    Bonne, G.7
  • 33
    • 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
    • DOI 10.1016/S0002-9343(02)01070-7, PII S0002934302010707
    • Garg, A., Speckman, R.A. and Bowcock, A.M. (2002) Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and α-helical rod domains of the lamin A/C gene. Am. J. Med. 112, 549-555 (Pubitemid 34518315)
    • (2002) American Journal of Medicine , vol.112 , Issue.7 , pp. 549-555
    • Garg, A.1    Speckman, R.A.2    Bowcock, A.M.3
  • 38
    • 34547189094 scopus 로고    scopus 로고
    • Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy
    • DOI 10.1007/s10840-007-9133-x
    • Antoniades, L., Eftychiou, C., Kyriakides, T., Christodoulou, K. and Katritsis, D.G. (2007) Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy. J. Interv. Card. Electrophysiol. 19, 1-7 (Pubitemid 47125236)
    • (2007) Journal of Interventional Cardiac Electrophysiology , vol.19 , Issue.1 , pp. 1-7
    • Antoniades, L.1    Eftychiou, C.2    Kyriakides, T.3    Christodoulou, K.4    Katritsis, D.G.5
  • 42
    • 49449103947 scopus 로고    scopus 로고
    • Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa
    • Hamadouche, T., Poitelon, Y., Genin, E., Chaouch, M., Tazir, M., Kassouri, N., Nouioua, S., Chaouch, A., Boccaccio, I., Benhassine, T. et al. (2008) Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa. Ann. Hum. Genet. 72, 590-597
    • (2008) Ann. Hum. Genet. , vol.72 , pp. 590-597
    • Hamadouche, T.1    Poitelon, Y.2    Genin, E.3    Chaouch, M.4    Tazir, M.5    Kassouri, N.6    Nouioua, S.7    Chaouch, A.8    Boccaccio, I.9    Benhassine, T.10
  • 43
    • 57349129333 scopus 로고    scopus 로고
    • Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation
    • Agarwal, A.K., Kazachkova, I., Ten, S. and Garg, A. (2008) Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. J. Clin. Endocrinol. Metab. 93, 4617-4623
    • (2008) J. Clin. Endocrinol. Metab. , vol.93 , pp. 4617-4623
    • Agarwal, A.K.1    Kazachkova, I.2    Ten, S.3    Garg, A.4
  • 44
    • 24644473652 scopus 로고    scopus 로고
    • A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia
    • DOI 10.1210/jc.2004-2560
    • Garg, A., Cogulu, O., Ozkinay, F., Onay, H. and Agarwal, A.K. (2005) A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. J. Clin. Endocrinol. Metab. 90, 5259-5264 (Pubitemid 41263393)
    • (2005) Journal of Clinical Endocrinology and Metabolism , vol.90 , Issue.9 , pp. 5259-5264
    • Garg, A.1    Cogulu, O.2    Ozkinay, F.3    Onay, H.4    Agarwal, A.K.5
  • 46
    • 34848882814 scopus 로고    scopus 로고
    • Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes
    • DOI 10.1002/humu.20536
    • Moulson, C.L., Fong, L.G., Gardner, J.M., Farber, E.A., Go, G., Passariello, A., Grange, D.K., Young, S.G. and Miner, J.H. (2007) Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. Hum. Mutat. 28, 882-889 (Pubitemid 47579938)
    • (2007) Human Mutation , vol.28 , Issue.9 , pp. 882-889
    • Moulson, C.L.1    Fong, L.G.2    Gardner, J.M.3    Farber, E.A.4    Go, G.5    Passariello, A.6    Grange, D.K.7    Young, S.G.8    Miner, J.H.9
  • 49
    • 28744453386 scopus 로고    scopus 로고
    • Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation
    • DOI 10.1210/jc.2005-0939
    • Jacob, K.N., Baptista, F., dos Santos, H.G., Oshima, J., Agarwal, A.K. and Garg, A. (2005) Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation. J. Clin. Endocrinol. Metab. 90, 6699-6706 (Pubitemid 41759335)
    • (2005) Journal of Clinical Endocrinology and Metabolism , vol.90 , Issue.12 , pp. 6699-6706
    • Jacob, K.N.1    Baptista, F.2    Dos, S.H.G.3    Oshima, J.4    Agarwal, A.K.5    Garg, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.