-
1
-
-
34249788998
-
"Laminopathies": a wide spectrum of human diseases
-
Worman HJ, Bonne G, (2007) "Laminopathies": a wide spectrum of human diseases. Exp Cell Res 313: 2121-2133.
-
(2007)
Exp Cell Res
, vol.313
, pp. 2121-2133
-
-
Worman, H.J.1
Bonne, G.2
-
2
-
-
0027257461
-
Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
-
Lin F, Worman HJ, (1993) Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J Biol Chem 268: 16321-16326.
-
(1993)
J Biol Chem
, vol.268
, pp. 16321-16326
-
-
Lin, F.1
Worman, H.J.2
-
3
-
-
0029917273
-
Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization
-
Wydner KL, McNeil JA, Lin F, Worman HJ, Lawrence JB, (1996) Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization. Genomics 32: 474-478.
-
(1996)
Genomics
, vol.32
, pp. 474-478
-
-
Wydner, K.L.1
McNeil, J.A.2
Lin, F.3
Worman, H.J.4
Lawrence, J.B.5
-
4
-
-
67649188781
-
Increased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging
-
Rodriguez S, Coppede F, Sagelius H, Eriksson M, (2009) Increased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging. Eur J Hum Genet 17: 928-937.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 928-937
-
-
Rodriguez, S.1
Coppede, F.2
Sagelius, H.3
Eriksson, M.4
-
5
-
-
0028342511
-
Identification and cloning of an mRNA coding for a germ cell-specific A-type lamin in mice
-
Furukawa K, Inagaki H, Hotta Y, (1994) Identification and cloning of an mRNA coding for a germ cell-specific A-type lamin in mice. Exp Cell Res 212: 426-430.
-
(1994)
Exp Cell Res
, vol.212
, pp. 426-430
-
-
Furukawa, K.1
Inagaki, H.2
Hotta, Y.3
-
6
-
-
0030297086
-
Change of karyoskeleton during mammalian spermatogenesis: expression pattern of lamin C2 and its regulation
-
Alsheimer M, Benavente R, (1996) Change of karyoskeleton during mammalian spermatogenesis: expression pattern of lamin C2 and its regulation. Exp Cell Res 228: 181-188.
-
(1996)
Exp Cell Res
, vol.228
, pp. 181-188
-
-
Alsheimer, M.1
Benavente, R.2
-
7
-
-
0029932434
-
An alternative splicing product of the lamin A/C gene lacks exon 10
-
Machiels BM, Zorenc AH, Endert JM, Kuijpers HJ, van Eys GJ, et al. (1996) An alternative splicing product of the lamin A/C gene lacks exon 10. J Biol Chem 271: 9249-9253.
-
(1996)
J Biol Chem
, vol.271
, pp. 9249-9253
-
-
Machiels, B.M.1
Zorenc, A.H.2
Endert, J.M.3
Kuijpers, H.J.4
van Eys, G.J.5
-
8
-
-
33646745137
-
Lamin A-dependent nuclear defects in human aging
-
Scaffidi P, Misteli T, (2006) Lamin A-dependent nuclear defects in human aging. Science 312: 1059-1063.
-
(2006)
Science
, vol.312
, pp. 1059-1063
-
-
Scaffidi, P.1
Misteli, T.2
-
9
-
-
20444506041
-
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors
-
Navarro CL, Cadiñanos J, De Sandre-Giovannoli A, Bernard R, Courrier S, et al. (2005) Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. Hum Mol Genet 14: 1503-1513.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1503-1513
-
-
Navarro, C.L.1
Cadiñanos, J.2
de Sandre-Giovannoli, A.3
Bernard, R.4
Courrier, S.5
-
10
-
-
44849116735
-
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C
-
Rankin J, Auer-Grumbach M, Bagg W, Colclough K, Nguyen TD, et al. (2008) Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. Am J Med Genet A 146A: 1530-1542.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 1530-1542
-
-
Rankin, J.1
Auer-Grumbach, M.2
Bagg, W.3
Colclough, K.4
Nguyen, T.D.5
-
11
-
-
0037183491
-
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy
-
van der Kooi AJ, Bonne G, Eymard B, Duboc D, Talim 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
Duboc, D.4
Talim, B.5
-
12
-
-
0033636387
-
High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation
-
Bécane HM, Bonne G, Varnous S, Muchir A, Ortega V, 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
Muchir, A.4
Ortega, V.5
-
13
-
-
0012789869
-
Allelic variation in gene expression is common in the human genome
-
Lo HS, Wang Z, Hu Y, Yang HH, Gere S, et al. (2003) Allelic variation in gene expression is common in the human genome. Genome Res 13: 1855-1862.
-
(2003)
Genome Res
, vol.13
, pp. 1855-1862
-
-
Lo, H.S.1
Wang, Z.2
Hu, Y.3
Yang, H.H.4
Gere, S.5
-
14
-
-
40149090710
-
Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression
-
Serre D, Gurd S, Ge B, Sladek R, Sinnett D, et al. (2008) Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression. PLoS Genet 4: e1000006.
-
(2008)
PLoS Genet
, vol.4
-
-
Serre, D.1
Gurd, S.2
Ge, B.3
Sladek, R.4
Sinnett, D.5
-
15
-
-
0033990048
-
Primer3 on the WWW for general users and for biologist programmers
-
Rozen S, Skaletsky H, (2000) Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 132: 365-386.
-
(2000)
Methods Mol Biol
, vol.132
, pp. 365-386
-
-
Rozen, S.1
Skaletsky, H.2
-
16
-
-
34848882814
-
Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes
-
Moulson CL, Fong LG, Gardner JM, Farber EA, Go G, et al. (2007) Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. Hum Mutat 28: 882-889.
-
(2007)
Hum Mutat
, vol.28
, pp. 882-889
-
-
Moulson, C.L.1
Fong, L.G.2
Gardner, J.M.3
Farber, E.A.4
Go, G.5
-
17
-
-
43749111384
-
Eliminating the synthesis of mature lamin A reduces disease phenotypes in mice carrying a Hutchinson-Gilford progeria syndrome allele
-
Yang SH, Qiao X, Farber E, Chang SY, Fong LG, et al. (2008) Eliminating the synthesis of mature lamin A reduces disease phenotypes in mice carrying a Hutchinson-Gilford progeria syndrome allele. J Biol Chem 283: 7094-7099.
-
(2008)
J Biol Chem
, vol.283
, pp. 7094-7099
-
-
Yang, S.H.1
Qiao, X.2
Farber, E.3
Chang, S.Y.4
Fong, L.G.5
-
18
-
-
33646232231
-
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins
-
Muntoni F, Bonne G, Goldfarb LG, Mercuri E, Piercy RJ, et al. (2006) Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. Brain 129: 1260-1268.
-
(2006)
Brain
, vol.129
, pp. 1260-1268
-
-
Muntoni, F.1
Bonne, G.2
Goldfarb, L.G.3
Mercuri, E.4
Piercy, R.J.5
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