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1
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45949094153
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OMIM. #150330.
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OMIM. #150330.
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2
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15044348989
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Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant EmeryDreifuss muscular dystrophy
-
Walter M.C., Witt T.N., Weigel B.S., et al. Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant EmeryDreifuss muscular dystrophy. Neuromuscul Disord 15 (2005) 40-44
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 40-44
-
-
Walter, M.C.1
Witt, T.N.2
Weigel, B.S.3
-
3
-
-
34250732284
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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 49 (2007) 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
-
4
-
-
0037624625
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Architectural abnormalities in muscle nuclei. Ultrastructural differences between X-linked and autosomal dominant forms of EDMD
-
Fidzianska A., and Hausmanowa-Petrusewicz I. Architectural abnormalities in muscle nuclei. Ultrastructural differences between X-linked and autosomal dominant forms of EDMD. J Neurol Sci 210 (2003) 47-51
-
(2003)
J Neurol Sci
, vol.210
, pp. 47-51
-
-
Fidzianska, A.1
Hausmanowa-Petrusewicz, I.2
-
5
-
-
18344380431
-
Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease
-
Arbustini E., Pilotto A., Repetto A., et al. Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. J Am Coll Cardiol 39 (2002) 981-990
-
(2002)
J Am Coll Cardiol
, vol.39
, pp. 981-990
-
-
Arbustini, E.1
Pilotto, A.2
Repetto, A.3
-
6
-
-
0344629215
-
Loss of lamin A/C expression revealed by immuno-electron microscopy in dilated cardiomyopathy with atrioventricular block caused by LMNA gene defects
-
Verga L., Concardi M., Pilotto A., et al. Loss of lamin A/C expression revealed by immuno-electron microscopy in dilated cardiomyopathy with atrioventricular block caused by LMNA gene defects. Virchows Arch 443 (2003) 664-671
-
(2003)
Virchows Arch
, vol.443
, pp. 664-671
-
-
Verga, L.1
Concardi, M.2
Pilotto, A.3
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7
-
-
23744486205
-
In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients
-
Sylvius N., Bilinska Z.T., Veinot J.P., et al. In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients. J Med Genet 42 (2005) 639-647
-
(2005)
J Med Genet
, vol.42
, pp. 639-647
-
-
Sylvius, N.1
Bilinska, Z.T.2
Veinot, J.P.3
-
8
-
-
0345084450
-
Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD)
-
Fidzianska A., Toniolo D., and Hausmanowa-Petrusewicz I. Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD). J Neurol Sci 159 (1998) 88-93
-
(1998)
J Neurol Sci
, vol.159
, pp. 88-93
-
-
Fidzianska, A.1
Toniolo, D.2
Hausmanowa-Petrusewicz, I.3
-
9
-
-
0035012608
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Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy
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Sabatelli P., Lattanzi G., Ognibene A., et al. Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy. Muscle Nerve 24 (2001) 826-829
-
(2001)
Muscle Nerve
, vol.24
, pp. 826-829
-
-
Sabatelli, P.1
Lattanzi, G.2
Ognibene, A.3
-
10
-
-
0037684765
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The nucleoskeleton: lamins and actin are major players in essential nuclear functions
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Shumaker D.K., Kuczmarski E.R., and Goldman R.D. The nucleoskeleton: lamins and actin are major players in essential nuclear functions. Curr Opin Cell Biol 15 (2003) 358-366
-
(2003)
Curr Opin Cell Biol
, vol.15
, pp. 358-366
-
-
Shumaker, D.K.1
Kuczmarski, E.R.2
Goldman, R.D.3
-
11
-
-
1842584782
-
Proteins that bind A-type lamins: integrating isolated clues
-
Zastrow M.S., Vlcek S., and Wilson K.L. Proteins that bind A-type lamins: integrating isolated clues. J Cell Sci 117 (2004) 979-987
-
(2004)
J Cell Sci
, vol.117
, pp. 979-987
-
-
Zastrow, M.S.1
Vlcek, S.2
Wilson, K.L.3
-
12
-
-
11244320353
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The nuclear lamina comes of age
-
Gruenbaum Y., Margalit A., Goldman R.D., Shumaker D.K., and Wilson K.L. The nuclear lamina comes of age. Nat Rev Mol Cell Biol 6 (2005) 21-31
-
(2005)
Nat Rev Mol Cell Biol
, vol.6
, pp. 21-31
-
-
Gruenbaum, Y.1
Margalit, A.2
Goldman, R.D.3
Shumaker, D.K.4
Wilson, K.L.5
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13
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27744495042
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Novel progerin-interactive partner proteins hnRNP E1, EGF, Mel 18, and UBC9 interact with lamin A/C
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Zhong N., Radu G., Ju W., and Brown W.T. Novel progerin-interactive partner proteins hnRNP E1, EGF, Mel 18, and UBC9 interact with lamin A/C. Biochem Biophys Res Commun 338 (2005) 855-861
-
(2005)
Biochem Biophys Res Commun
, vol.338
, pp. 855-861
-
-
Zhong, N.1
Radu, G.2
Ju, W.3
Brown, W.T.4
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14
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33646555082
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SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeleton
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Haque F., Lloyd D.J., Smallwood D.T., et al. SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeleton. Mol Cell Biol 26 (2006) 3738-3751
-
(2006)
Mol Cell Biol
, vol.26
, pp. 3738-3751
-
-
Haque, F.1
Lloyd, D.J.2
Smallwood, D.T.3
-
15
-
-
32044457898
-
A mechanism of AP-1 suppression through interaction of c-Fos with lamin A/C
-
Ivorra C., Kubicek M., Gonzalez J.M., et al. A mechanism of AP-1 suppression through interaction of c-Fos with lamin A/C. Genes Dev 20 (2006) 307-320
-
(2006)
Genes Dev
, vol.20
, pp. 307-320
-
-
Ivorra, C.1
Kubicek, M.2
Gonzalez, J.M.3
-
16
-
-
32244437071
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Nuclear titin interacts with A- and B-type lamins in vitro and in vivo
-
Zastrow M.S., Flaherty D.B., Benian G.M., and Wilson K.L. Nuclear titin interacts with A- and B-type lamins in vitro and in vivo. J Cell Sci 119 (2006) 239-249
-
(2006)
J Cell Sci
, vol.119
, pp. 239-249
-
-
Zastrow, M.S.1
Flaherty, D.B.2
Benian, G.M.3
Wilson, K.L.4
-
17
-
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0035696932
-
Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy
-
Raharjo W.H., Enarson P., Sullivan T., Stewart C.L., and Burke B. Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy. J Cell Sci 114 (2001) 4447-4457
-
(2001)
J Cell Sci
, vol.114
, pp. 4447-4457
-
-
Raharjo, W.H.1
Enarson, P.2
Sullivan, T.3
Stewart, C.L.4
Burke, B.5
-
18
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0033615969
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Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy
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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 147 (1999) 913-920
-
(1999)
J Cell Biol
, vol.147
, pp. 913-920
-
-
Sullivan, T.1
Escalante-Alcalde, D.2
Bhatt, H.3
-
19
-
-
11144355499
-
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 113 (2004) 357-369
-
(2004)
J Clin Invest
, vol.113
, pp. 357-369
-
-
Nikolova, V.1
Leimena, C.2
McMahon, A.C.3
-
20
-
-
26444595257
-
Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice
-
Mounkes L.C., Kozlov S.V., Rottman J.N., and Stewart C.L. Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice. Hum Mol Genet 14 (2005) 2167-2180
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2167-2180
-
-
Mounkes, L.C.1
Kozlov, S.V.2
Rottman, J.N.3
Stewart, C.L.4
-
21
-
-
7944232477
-
Decreased mechanical stiffness in LMNA/ cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies
-
Broers J.L., Peeters E.A., Kuijpers H.J., et al. Decreased mechanical stiffness in LMNA/ cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies. Hum Mol Genet 13 (2004) 2567-2580
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2567-2580
-
-
Broers, J.L.1
Peeters, E.A.2
Kuijpers, H.J.3
-
22
-
-
1542317663
-
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 113 (2004) 370-378
-
(2004)
J Clin Invest
, vol.113
, pp. 370-378
-
-
Lammerding, J.1
Schulze, P.C.2
Takahashi, T.3
-
23
-
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19944426537
-
Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies
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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 14 (2005) 155-169
-
(2005)
Hum Mol Genet
, vol.14
, pp. 155-169
-
-
Arimura, T.1
Helbling-Leclerc, A.2
Massart, C.3
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