메뉴 건너뛰기




Volumn 101, Issue , 2011, Pages 155-166

Emery-Dreifuss muscular dystrophy

Author keywords

[No Author keywords available]

Indexed keywords

BOOK; EMERY DREIFUSS MUSCULAR DYSTROPHY; HUMAN;

EID: 79954533867     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-08-045031-5.00012-8     Document Type: Book
Times cited : (47)

References (79)
  • 1
    • 0034644646 scopus 로고    scopus 로고
    • Syne-1, a dystrophin- and Klarsicht-related protein associated with synaptic nuclei at the neuromuscular junction
    • Apel E.D., Lewis R.M., Grady R.M., et al. Syne-1, a dystrophin- and Klarsicht-related protein associated with synaptic nuclei at the neuromuscular junction. J Biol Chem 2000, 275:31986-31995.
    • (2000) J Biol Chem , vol.275 , pp. 31986-31995
    • Apel, E.D.1    Lewis, R.M.2    Grady, R.M.3
  • 2
    • 19944426537 scopus 로고    scopus 로고
    • Mouse model carrying H222P-LMNA mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies
    • Arimura T., Helbling-Leclerc A., Massart C., et al. Mouse model carrying H222P-LMNA mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies. Hum Mol Genet 2005, 14:155-169.
    • (2005) Hum Mol Genet , vol.14 , pp. 155-169
    • Arimura, T.1    Helbling-Leclerc, A.2    Massart, C.3
  • 3
    • 32644441628 scopus 로고    scopus 로고
    • Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration
    • Bakay M., Wang Z., Melcon G., et al. Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration. Brain 2006, 129:996-1013.
    • (2006) Brain , vol.129 , pp. 996-1013
    • Bakay, M.1    Wang, Z.2    Melcon, G.3
  • 4
    • 1542382269 scopus 로고    scopus 로고
    • Multiple and surprising new functions for emerin, a nuclear membrane protein
    • Bengtsson L., Wilson K.L. Multiple and surprising new functions for emerin, a nuclear membrane protein. Curr Opin Cell Biol 2004, 16:73-79.
    • (2004) Curr Opin Cell Biol , vol.16 , pp. 73-79
    • Bengtsson, L.1    Wilson, K.L.2
  • 5
    • 0342545408 scopus 로고    scopus 로고
    • UMD (Universal mutation database): a generic software to build and analyze locus-specific databases
    • Beroud C., Collod-Beroud G., Boileau C., et al. UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. Hum Mutat 2000, 15:86-94.
    • (2000) Hum Mutat , vol.15 , pp. 86-94
    • Beroud, C.1    Collod-Beroud, G.2    Boileau, C.3
  • 6
    • 0027985787 scopus 로고
    • Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
    • Bione S., Maestrini E., Rivella S., et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 1994, 8:323-327.
    • (1994) Nat Genet , vol.8 , pp. 323-327
    • Bione, S.1    Maestrini, E.2    Rivella, S.3
  • 7
    • 0032977685 scopus 로고    scopus 로고
    • Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
    • Bonne G., Di Barletta M.R., Varnous S., et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999, 21:285-288.
    • (1999) Nat Genet , vol.21 , pp. 285-288
    • Bonne, G.1    Di Barletta, M.R.2    Varnous, S.3
  • 8
    • 0033865686 scopus 로고    scopus 로고
    • Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
    • Bonne G., Mercuri E., Muchir A., et al. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 2000, 48:170-180.
    • (2000) Ann Neurol , vol.48 , pp. 170-180
    • Bonne, G.1    Mercuri, E.2    Muchir, A.3
  • 9
    • 0036133645 scopus 로고    scopus 로고
    • 82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands
    • Bonne G., Capeau J., De Visser M., et al. 82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands. Neuromuscul Disord 2002, 12:187-194.
    • (2002) Neuromuscul Disord , vol.12 , pp. 187-194
    • Bonne, G.1    Capeau, J.2    De Visser, M.3
  • 10
    • 0042164479 scopus 로고    scopus 로고
    • 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
    • Bonne G., Yaou R.B., Beroud C., et al. 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. Neuromuscul Disord 2003, 13:508-515.
    • (2003) Neuromuscul Disord , vol.13 , pp. 508-515
    • Bonne, G.1    Yaou, R.B.2    Beroud, C.3
  • 11
    • 33646384920 scopus 로고    scopus 로고
    • Severe dilated cardiomyopathy and quadriceps myopathy due to lamin A/C gene mutation: a phenotypic study
    • Charniot J.C., Desnos M., Zerhouni K., et al. Severe dilated cardiomyopathy and quadriceps myopathy due to lamin A/C gene mutation: a phenotypic study. Eur J Heart Fail 2006, 8:249-256.
    • (2006) Eur J Heart Fail , vol.8 , pp. 249-256
    • Charniot, J.C.1    Desnos, M.2    Zerhouni, K.3
  • 13
    • 29944445023 scopus 로고    scopus 로고
    • Coupling of the nucleus and cytoplasm: role of the LINC complex
    • Crisp M., Liu Q., Roux K., et al. Coupling of the nucleus and cytoplasm: role of the LINC complex. J Cell Biol 2006, 172:41-53.
    • (2006) J Cell Biol , vol.172 , pp. 41-53
    • Crisp, M.1    Liu, Q.2    Roux, K.3
  • 14
    • 0036848357 scopus 로고    scopus 로고
    • In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A/C
    • Dreuillet C., Tillit J., Kress M., et al. In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A/C. Nucleic Acids Res 2002, 30:4634-4642.
    • (2002) Nucleic Acids Res , vol.30 , pp. 4634-4642
    • Dreuillet, C.1    Tillit, J.2    Kress, M.3
  • 15
    • 0035035265 scopus 로고    scopus 로고
    • 81st ENMC international workshop: 4th meeting on Emery-Dreifuss muscular dystrophy 7th and 8th July 2000, Naarden, The Netherlands
    • Ellis J.A. 81st ENMC international workshop: 4th meeting on Emery-Dreifuss muscular dystrophy 7th and 8th July 2000, Naarden, The Netherlands. Neuromuscul Disord 2001, 11:417-420.
    • (2001) Neuromuscul Disord , vol.11 , pp. 417-420
    • Ellis, J.A.1
  • 16
  • 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. 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 1999, 341:1715-1724.
    • (1999) N Engl J Med , vol.341 , pp. 1715-1724
    • Fatkin, D.1    MacRae, C.2    Sasaki, T.3
  • 18
    • 0037225049 scopus 로고    scopus 로고
    • Expression of lamin A mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with Dunnigan-type partial lipodystrophy and Emery-Dreifuss muscular dystrophy
    • Favreau C., Dubosclard E., Ostlund C., et al. Expression of lamin A mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with Dunnigan-type partial lipodystrophy and Emery-Dreifuss muscular dystrophy. Exp Cell Res 2003, 282:14-23.
    • (2003) Exp Cell Res , vol.282 , pp. 14-23
    • Favreau, C.1    Dubosclard, E.2    Ostlund, C.3
  • 19
    • 0023032014 scopus 로고
    • CDNA sequencing of nulear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins
    • Fischer D.Z., Chaudhary N., Blobel G. cDNA sequencing of nulear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins. Proc Natl Acad Sci U S A 1986, 83:6450-6454.
    • (1986) Proc Natl Acad Sci U S A , vol.83 , pp. 6450-6454
    • Fischer, D.Z.1    Chaudhary, N.2    Blobel, G.3
  • 20
    • 33644651157 scopus 로고    scopus 로고
    • Prelamin A and lamin A appear to be dispensable in the nuclear lamina
    • Fong L.G., Ng J.K., Lammerding J., et al. Prelamin A and lamin A appear to be dispensable in the nuclear lamina. J Clin Invest 2006, 116:743-752.
    • (2006) J Clin Invest , vol.116 , pp. 743-752
    • Fong, L.G.1    Ng, J.K.2    Lammerding, J.3
  • 21
    • 10744225680 scopus 로고    scopus 로고
    • Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation
    • Forissier J.F., Bonne G., Bouchier C., et al. Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation. Eur J Heart Fail 2003, 5:821-825.
    • (2003) Eur J Heart Fail , vol.5 , pp. 821-825
    • Forissier, J.F.1    Bonne, G.2    Bouchier, C.3
  • 22
    • 39849085883 scopus 로고    scopus 로고
    • Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia
    • Geiger S.K., Bar H., Ehlermann P., et al. Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia. J Mol Med 2008, 86:281-289.
    • (2008) J Mol Med , vol.86 , pp. 281-289
    • Geiger, S.K.1    Bar, H.2    Ehlermann, P.3
  • 23
    • 15444380529 scopus 로고    scopus 로고
    • Syne proteins anchor muscle nuclei at the neuromuscular junction
    • Grady R.M., Starr D.A., Ackerman G.L., et al. Syne proteins anchor muscle nuclei at the neuromuscular junction. Proc Natl Acad Sci U S A 2005, 102:4359-4364.
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 4359-4364
    • Grady, R.M.1    Starr, D.A.2    Ackerman, G.L.3
  • 24
    • 33845891591 scopus 로고    scopus 로고
    • Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia
    • Gros-Louis F., Dupre N., Dion P., et al. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet 2007, 39:80-85.
    • (2007) Nat Genet , vol.39 , pp. 80-85
    • Gros-Louis, F.1    Dupre, N.2    Dion, P.3
  • 25
    • 3042519038 scopus 로고    scopus 로고
    • Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations
    • Hermida-Prieto M., Monserrat L., Castro-Beiras A., et al. Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. Am J Cardiol 2004, 94:50-54.
    • (2004) Am J Cardiol , vol.94 , pp. 50-54
    • Hermida-Prieto, M.1    Monserrat, L.2    Castro-Beiras, A.3
  • 26
    • 3042829496 scopus 로고    scopus 로고
    • A-type lamins regulate retinoblastoma protein function by promoting subnuclear localization and preventing proteasomal degradation
    • Johnson B.R., Nitta R.T., Frock R.L., et al. A-type lamins regulate retinoblastoma protein function by promoting subnuclear localization and preventing proteasomal degradation. Proc Natl Acad Sci U S A 2004, 101:9677-9682.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 9677-9682
    • Johnson, B.R.1    Nitta, R.T.2    Frock, R.L.3
  • 27
    • 0032842848 scopus 로고    scopus 로고
    • MAKAP: an A-kinase anchoring protein targeted to the nuclear membrane of differentiated myocytes
    • Kapiloff M.S., Schillace R.V., Westphal A.M., et al. mAKAP: an A-kinase anchoring protein targeted to the nuclear membrane of differentiated myocytes. J Cell Sci 1999, 112:2725-2736.
    • (1999) J Cell Sci , vol.112 , pp. 2725-2736
    • Kapiloff, M.S.1    Schillace, R.V.2    Westphal, A.M.3
  • 28
    • 0037049554 scopus 로고    scopus 로고
    • Lamin A/C speckles mediate spatial organization of splicing factor compartments and RNA polymerase II transcription
    • Kumaran R.I., Muralikrishna B., Parnaik V.K. Lamin A/C speckles mediate spatial organization of splicing factor compartments and RNA polymerase II transcription. J Cell Biol 2002, 159:783-793.
    • (2002) J Cell Biol , vol.159 , pp. 783-793
    • Kumaran, R.I.1    Muralikrishna, B.2    Parnaik, V.K.3
  • 29
    • 16244388205 scopus 로고    scopus 로고
    • The nuclear membrane and mechanotransduction: impaired nuclear mechanics and mechanotransduction in lamin A/C deficient cells
    • Lammerding J., Lee R.T. The nuclear membrane and mechanotransduction: impaired nuclear mechanics and mechanotransduction in lamin A/C deficient cells. Novartis Found Symp 2005, 264:264-273.
    • (2005) Novartis Found Symp , vol.264 , pp. 264-273
    • Lammerding, J.1    Lee, R.T.2
  • 30
    • 1542317663 scopus 로고    scopus 로고
    • Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction
    • Lammerding J., Schulze P.C., Takahashi T., et al. Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. J Clin Invest 2004, 113:370-378.
    • (2004) J Clin Invest , vol.113 , pp. 370-378
    • Lammerding, J.1    Schulze, P.C.2    Takahashi, T.3
  • 31
    • 24144481867 scopus 로고    scopus 로고
    • Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells
    • Lammerding J., Hsiao J., Schulze P.C., et al. Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells. J Cell Biol 2005, 170:781-791.
    • (2005) J Cell Biol , vol.170 , pp. 781-791
    • Lammerding, J.1    Hsiao, J.2    Schulze, P.C.3
  • 32
    • 0035694820 scopus 로고    scopus 로고
    • Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF
    • Lee K.K., Haraguchi T., Lee R.S., et al. Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF. J Cell Sci 2001, 114:4567-4573.
    • (2001) J Cell Sci , vol.114 , pp. 4567-4573
    • Lee, K.K.1    Haraguchi, T.2    Lee, R.S.3
  • 33
    • 0010397284 scopus 로고    scopus 로고
    • The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein
    • Manilal S., Nguyen T.M., Sewry C.A., et al. The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet 1996, 5:801-808.
    • (1996) Hum Mol Genet , vol.5 , pp. 801-808
    • Manilal, S.1    Nguyen, T.M.2    Sewry, C.A.3
  • 34
    • 7144256260 scopus 로고    scopus 로고
    • Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression
    • Manilal S., Recan D., Sewry C.A., et al. Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. Hum Mol Genet 1998, 7:855-864.
    • (1998) Hum Mol Genet , vol.7 , pp. 855-864
    • Manilal, S.1    Recan, D.2    Sewry, C.A.3
  • 35
    • 32144431571 scopus 로고    scopus 로고
    • Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration
    • Melcon G., Kozlov S., Cutler D.A., et al. Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration. Hum Mol Genet 2006, 15:637-651.
    • (2006) Hum Mol Genet , vol.15 , pp. 637-651
    • Melcon, G.1    Kozlov, S.2    Cutler, D.A.3
  • 36
    • 20244375852 scopus 로고    scopus 로고
    • Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene
    • Mercuri E., Brown S.C., Nihoyannopoulos P., et al. Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. Muscle Nerve 2005, 31:602-609.
    • (2005) Muscle Nerve , vol.31 , pp. 602-609
    • Mercuri, E.1    Brown, S.C.2    Nihoyannopoulos, P.3
  • 37
    • 30444446953 scopus 로고    scopus 로고
    • Primary prevention of sudden death in patients with lamin A/C gene mutations
    • Meune C., Van Berlo J.H., Anselme F., et al. Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med 2006, 354:209-210.
    • (2006) N Engl J Med , vol.354 , pp. 209-210
    • Meune, C.1    Van Berlo, J.H.2    Anselme, F.3
  • 38
    • 0037077382 scopus 로고    scopus 로고
    • Nesprin-1alpha self-associates and binds directly to emerin and lamin A in vitro
    • Mislow J.M., Holaska J.M., Kim M.S., et al. Nesprin-1alpha self-associates and binds directly to emerin and lamin A in vitro. FEBS Lett 2002, 525:135-140.
    • (2002) FEBS Lett , vol.525 , pp. 135-140
    • Mislow, J.M.1    Holaska, J.M.2    Kim, M.S.3
  • 39
    • 0036155776 scopus 로고    scopus 로고
    • Myne-1, a spectrin repeat transmembrane protein of the myocyte inner nuclear membrane, interacts with lamin A/C
    • Mislow J.M., Kim M.S., Davis D.B., et al. Myne-1, a spectrin repeat transmembrane protein of the myocyte inner nuclear membrane, interacts with lamin A/C. J Cell Sci 2002, 115:61-70.
    • (2002) J Cell Sci , vol.115 , pp. 61-70
    • Mislow, J.M.1    Kim, M.S.2    Davis, D.B.3
  • 40
    • 0034640884 scopus 로고    scopus 로고
    • Disruption of nuclear lamin organization blocks the elongation phase of DNA replication
    • Moir R.D., Spann T.P., Herrmann H., et al. Disruption of nuclear lamin organization blocks the elongation phase of DNA replication. J Cell Biol 2000, 149:1179-1192.
    • (2000) J Cell Biol , vol.149 , pp. 1179-1192
    • Moir, R.D.1    Spann, T.P.2    Herrmann, H.3
  • 41
    • 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., et al. 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 2000, 9:1453-1459.
    • (2000) Hum Mol Genet , vol.9 , pp. 1453-1459
    • Muchir, A.1    Bonne, G.2    van der Kooi, A.J.3
  • 42
    • 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 B., Lammens M., et al. Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene. Exp Cell Res 2003, 291:352-362.
    • (2003) Exp Cell Res , vol.291 , pp. 352-362
    • Muchir, A.1    Van Engelen, B.2    Lammens, M.3
  • 43
    • 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. Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. Muscle Nerve 2004, 30:444-450.
    • (2004) Muscle Nerve , vol.30 , pp. 444-450
    • Muchir, A.1    Medioni, J.2    Laluc, M.3
  • 44
    • 34248198298 scopus 로고    scopus 로고
    • Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy
    • Muchir A., Pavlidis P., Decostre V., et al. Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy. J Clin Invest 2007, 117:1282-1293.
    • (2007) J Clin Invest , vol.117 , pp. 1282-1293
    • Muchir, A.1    Pavlidis, P.2    Decostre, V.3
  • 45
    • 0035205083 scopus 로고    scopus 로고
    • Distinct changes in intranuclear lamin A/C organization during myoblast differentiation
    • Muralikrishna B., Dhawan J., Rangaraj N., et al. Distinct changes in intranuclear lamin A/C organization during myoblast differentiation. J Cell Sci 2001, 114:4001-4011.
    • (2001) J Cell Sci , vol.114 , pp. 4001-4011
    • Muralikrishna, B.1    Dhawan, J.2    Rangaraj, N.3
  • 46
    • 0029874852 scopus 로고    scopus 로고
    • Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
    • Nagano A., Koga R., Ogawa M., et al. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat Genet 1996, 12:254-259.
    • (1996) Nat Genet , vol.12 , pp. 254-259
    • Nagano, A.1    Koga, R.2    Ogawa, M.3
  • 47
    • 0032533246 scopus 로고    scopus 로고
    • Clinical characteristics of sudden death victims in heritable (chromosome 1p1-1q1) conduction and myocardial disease
    • Nelson S.D., Sparks E.A., Graber H.L., et al. Clinical characteristics of sudden death victims in heritable (chromosome 1p1-1q1) conduction and myocardial disease. J Am Coll Cardiol 1998, 32:1717-1723.
    • (1998) J Am Coll Cardiol , vol.32 , pp. 1717-1723
    • Nelson, S.D.1    Sparks, E.A.2    Graber, H.L.3
  • 48
    • 11144355499 scopus 로고    scopus 로고
    • Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice
    • Nikolova V., Leimena C., McMahon A.C., et al. Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice. J Clin Invest 2004, 113:357-369.
    • (2004) J Clin Invest , vol.113 , pp. 357-369
    • Nikolova, V.1    Leimena, C.2    McMahon, A.C.3
  • 49
    • 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., et al. Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. J Cell Sci 2001, 114:4435-4445.
    • (2001) J Cell Sci , vol.114 , pp. 4435-4445
    • Ostlund, C.1    Bonne, G.2    Schwartz, K.3
  • 50
    • 33644644570 scopus 로고    scopus 로고
    • Emerin-lacking mice show minimal motor and cardiac dysfunctions with nuclear-associated vacuoles
    • Ozawa R., Hayashi Y.K., Ogawa M., et al. Emerin-lacking mice show minimal motor and cardiac dysfunctions with nuclear-associated vacuoles. Am J Pathol 2006, 168:907-917.
    • (2006) Am J Pathol , vol.168 , pp. 907-917
    • Ozawa, R.1    Hayashi, Y.K.2    Ogawa, M.3
  • 51
    • 58949099402 scopus 로고    scopus 로고
    • Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice
    • Puckelwartz M.J., Kessler E., Zhang Y., et al. Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice. Hum Mol Genet 2009, 18:607-620.
    • (2009) Hum Mol Genet , vol.18 , pp. 607-620
    • Puckelwartz, M.J.1    Kessler, E.2    Zhang, Y.3
  • 52
    • 77649269911 scopus 로고    scopus 로고
    • Nesprin-1 mutations in human and murine cardiomyopathy
    • Puckelwartz M.J., Kessler E.J., Kim G., et al. Nesprin-1 mutations in human and murine cardiomyopathy. J Mol Cell Cardiol 2010, 48:600-608.
    • (2010) J Mol Cell Cardiol , vol.48 , pp. 600-608
    • Puckelwartz, M.J.1    Kessler, E.J.2    Kim, G.3
  • 53
    • 17944376263 scopus 로고    scopus 로고
    • Class I histone deacetylases sequentially interact with MyoD and pRb during skeletal myogenesis
    • Puri P.L., Iezzi S., Stiegler P., et al. Class I histone deacetylases sequentially interact with MyoD and pRb during skeletal myogenesis. Mol Cell 2001, 8:885-897.
    • (2001) Mol Cell , vol.8 , pp. 885-897
    • Puri, P.L.1    Iezzi, S.2    Stiegler, P.3
  • 54
    • 0033927867 scopus 로고    scopus 로고
    • Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
    • Raffaele Di Barletta M., Ricci E., et al. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 2000, 66:1407-1412.
    • (2000) Am J Hum Genet , vol.66 , pp. 1407-1412
    • Raffaele Di Barletta, M.1    Ricci, E.2
  • 55
    • 0035696932 scopus 로고    scopus 로고
    • Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy
    • Raharjo W.H., Enarson P., Sullivan T., et al. Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy. J Cell Sci 2001, 114:4447-4457.
    • (2001) J Cell Sci , vol.114 , pp. 4447-4457
    • Raharjo, W.H.1    Enarson, P.2    Sullivan, T.3
  • 56
    • 27544461894 scopus 로고    scopus 로고
    • Atypical motor unit potentials in Emery-Dreifuss muscular dystrophy (EDMD)
    • Rowinska-Marcinska K., Szmidt-Salkowska E., Fidzianska A., et al. Atypical motor unit potentials in Emery-Dreifuss muscular dystrophy (EDMD). Clin Neurophysiol 2005, 116:2520-2527.
    • (2005) Clin Neurophysiol , vol.116 , pp. 2520-2527
    • Rowinska-Marcinska, K.1    Szmidt-Salkowska, E.2    Fidzianska, A.3
  • 57
    • 0035012608 scopus 로고    scopus 로고
    • Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy
    • Sabatelli P., Lattanzi G., Ognibene A., et al. Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy. Muscle Nerve 2001, 24:826-829.
    • (2001) Muscle Nerve , vol.24 , pp. 826-829
    • Sabatelli, P.1    Lattanzi, G.2    Ognibene, A.3
  • 58
    • 10744225746 scopus 로고    scopus 로고
    • Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations
    • Sanna T., Dello Russo A., Toniolo D., et al. Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. Eur Heart J 2003, 24:2227-2236.
    • (2003) Eur Heart J , vol.24 , pp. 2227-2236
    • Sanna, T.1    Dello Russo, A.2    Toniolo, D.3
  • 60
    • 0033615969 scopus 로고    scopus 로고
    • Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy
    • Sullivan T., Escalante-Alcalde D., Bhatt H., et al. Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. J Cell Biol 1999, 147:913-920.
    • (1999) J Cell Biol , vol.147 , pp. 913-920
    • Sullivan, T.1    Escalante-Alcalde, D.2    Bhatt, H.3
  • 61
    • 0037420074 scopus 로고    scopus 로고
    • Natural history of dilated cardiomyopathy due to lamin A/C gene mutations
    • Taylor M.R., Fain P.R., Sinagra G., et al. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am Coll Cardiol 2003, 41:771-780.
    • (2003) J Am Coll Cardiol , vol.41 , pp. 771-780
    • Taylor, M.R.1    Fain, P.R.2    Sinagra, G.3
  • 62
    • 33749003191 scopus 로고    scopus 로고
    • SUN-domain proteins: 'Velcro' that links the nucleoskeleton to the cytoskeleton
    • Tzur Y.B., Wilson K.L., Gruenbaum Y. SUN-domain proteins: 'Velcro' that links the nucleoskeleton to the cytoskeleton. Nat Rev Mol Cell Biol 2006, 7:782-788.
    • (2006) Nat Rev Mol Cell Biol , vol.7 , pp. 782-788
    • Tzur, Y.B.1    Wilson, K.L.2    Gruenbaum, Y.3
  • 63
    • 19944431159 scopus 로고    scopus 로고
    • Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?
    • van Berlo J.H., de Voogt W.G., van der Kooi A.J., et al. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?. J Mol Med 2005, 83:79-83.
    • (2005) J Mol Med , vol.83 , pp. 79-83
    • van Berlo, J.H.1    de Voogt, W.G.2    van der Kooi, A.J.3
  • 64
    • 34250732284 scopus 로고    scopus 로고
    • Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene
    • van Tintelen J.P., Tio R.A., Kerstjens-Frederikse W.S., et al. Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene. J Am Coll Cardiol 2007, 49:2430-2439.
    • (2007) J Am Coll Cardiol , vol.49 , pp. 2430-2439
    • van Tintelen, J.P.1    Tio, R.A.2    Kerstjens-Frederikse, W.S.3
  • 65
    • 0034902488 scopus 로고    scopus 로고
    • Both emerin and lamin C depend on lamin A for localization at the nuclear envelope
    • Vaughan A., Alvarez-Reyes M., Bridger J.M., et al. Both emerin and lamin C depend on lamin A for localization at the nuclear envelope. J Cell Sci 2001, 114:2577-2590.
    • (2001) J Cell Sci , vol.114 , pp. 2577-2590
    • Vaughan, A.1    Alvarez-Reyes, M.2    Bridger, J.M.3
  • 66
    • 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. Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. J Med Genet 2003, 40:e132.
    • (2003) J Med Genet , vol.40
    • Vytopil, M.1    Benedetti, S.2    Ricci, E.3
  • 67
    • 33747893889 scopus 로고    scopus 로고
    • Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy
    • Wang Y., Herron A.J., Worman H.J. Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy. Hum Mol Genet 2006, 15:2479-2489.
    • (2006) Hum Mol Genet , vol.15 , pp. 2479-2489
    • Wang, Y.1    Herron, A.J.2    Worman, H.J.3
  • 68
    • 30844461349 scopus 로고    scopus 로고
    • Nesprins: intracellular scaffolds that maintain cell architecture and coordinate cell function?
    • Warren D.T., Zhang Q., Weissberg P.L., et al. Nesprins: intracellular scaffolds that maintain cell architecture and coordinate cell function?. Expert Rev Mol Med 2005, 7:1-15.
    • (2005) Expert Rev Mol Med , vol.7 , pp. 1-15
    • Warren, D.T.1    Zhang, Q.2    Weissberg, P.L.3
  • 69
    • 0016775532 scopus 로고
    • Cardiac features of an unusual X-linked humeroperoneal neuromuscular disease
    • Waters D.D., Nutter D.O., Hopkins L.C., et al. Cardiac features of an unusual X-linked humeroperoneal neuromuscular disease. N Engl J Med 1975, 293:1017-1022.
    • (1975) N Engl J Med , vol.293 , pp. 1017-1022
    • Waters, D.D.1    Nutter, D.O.2    Hopkins, L.C.3
  • 70
    • 0032907629 scopus 로고    scopus 로고
    • 60th ENMC International Workshop: non X-linked Emery-Dreifuss Muscular Dystrophy 5-7 June 1998, Naarden, The Netherlands
    • Wehnert M., Muntoni F. 60th ENMC International Workshop: non X-linked Emery-Dreifuss Muscular Dystrophy 5-7 June 1998, Naarden, The Netherlands. Neuromuscul Disord 1999, 9:115-121.
    • (1999) Neuromuscul Disord , vol.9 , pp. 115-121
    • Wehnert, M.1    Muntoni, F.2
  • 71
    • 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 2000, 10:125-129.
    • (2000) Trends Cell Biol , vol.10 , pp. 125-129
    • Wilson, K.L.1
  • 72
    • 0026377661 scopus 로고
    • European workshop on Emery-Dreifuss muscular dystrophy 1991
    • Yates J.R. European workshop on Emery-Dreifuss muscular dystrophy 1991. Neuromuscul Disord 1991, 1:393-396.
    • (1991) Neuromuscul Disord , vol.1 , pp. 393-396
    • Yates, J.R.1
  • 73
    • 0032808818 scopus 로고    scopus 로고
    • Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype
    • Yates J.R., Bagshaw J., Aksmanovic V.M., et al. Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. Neuromuscul Disord 1999, 9:159-165.
    • (1999) Neuromuscul Disord , vol.9 , pp. 159-165
    • Yates, J.R.1    Bagshaw, J.2    Aksmanovic, V.M.3
  • 74
    • 77949454297 scopus 로고    scopus 로고
    • Nesprin 1 is critical for nuclear positioning and anchorage
    • Zhang J., Felder A., Liu Y., et al. Nesprin 1 is critical for nuclear positioning and anchorage. Hum Mol Genet 2010, 19:329-341.
    • (2010) Hum Mol Genet , vol.19 , pp. 329-341
    • Zhang, J.1    Felder, A.2    Liu, Y.3
  • 75
    • 0035694555 scopus 로고    scopus 로고
    • Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues
    • Zhang Q., Skepper J.N., Yang F., et al. Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues. J Cell Sci 2001, 114:4485-4498.
    • (2001) J Cell Sci , vol.114 , pp. 4485-4498
    • Zhang, Q.1    Skepper, J.N.2    Yang, F.3
  • 76
    • 0036429266 scopus 로고    scopus 로고
    • The nesprins are giant actin-binding proteins, orthologous to Drosophila melanogaster muscle protein MSP-300
    • Zhang Q., Ragnauth C., Greener M.J., et al. The nesprins are giant actin-binding proteins, orthologous to Drosophila melanogaster muscle protein MSP-300. Genomics 2002, 80:473-481.
    • (2002) Genomics , vol.80 , pp. 473-481
    • Zhang, Q.1    Ragnauth, C.2    Greener, M.J.3
  • 77
    • 35748935532 scopus 로고    scopus 로고
    • Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity
    • Zhang Q., Bethmann C., Worth N.F., et al. Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet 2007, 16:2816-2833.
    • (2007) Hum Mol Genet , vol.16 , pp. 2816-2833
    • Zhang, Q.1    Bethmann, C.2    Worth, N.F.3
  • 78
    • 34248588483 scopus 로고    scopus 로고
    • Syne-1 and Syne-2 play crucial roles in myonuclear anchorage and motor neuron innervation
    • Zhang X., Xu R., Zhu B., et al. Syne-1 and Syne-2 play crucial roles in myonuclear anchorage and motor neuron innervation. Development 2007, 134:901-908.
    • (2007) Development , vol.134 , pp. 901-908
    • Zhang, X.1    Xu, R.2    Zhu, B.3
  • 79
    • 0036674866 scopus 로고    scopus 로고
    • NUANCE, a giant protein connecting the nucleus and actin cytoskeleton
    • Zhen Y.Y., Libotte T., Munck M., et al. NUANCE, a giant protein connecting the nucleus and actin cytoskeleton. J Cell Sci 2002, 115:3207-3222.
    • (2002) J Cell Sci , vol.115 , pp. 3207-3222
    • Zhen, Y.Y.1    Libotte, T.2    Munck, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.