-
1
-
-
0026566108
-
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
-
Brook, J.D. et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68, 799-808 (1992).
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
-
2
-
-
0026598119
-
An unstable triplet repeat in a gene related to myotonic muscular dystrophy
-
Fu, Y.H. et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255, 1256-1258 (1992).
-
(1992)
Science
, vol.255
, pp. 1256-1258
-
-
Fu, Y.H.1
-
3
-
-
0026603841
-
Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
-
Mahadevan, M. et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255, 1253-1255 (1992).
-
(1992)
Science
, vol.255
, pp. 1253-1255
-
-
Mahadevan, M.1
-
4
-
-
8944235350
-
Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice
-
Jansen, G. et al. Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nature Genet. 13, 316-324 (1996).
-
(1996)
Nature Genet.
, vol.13
, pp. 316-324
-
-
Jansen, G.1
-
5
-
-
8944259903
-
Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy
-
Reddy, S. et al. Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nature Genet. 13, 325-335 (1996).
-
(1996)
Nature Genet.
, vol.13
, pp. 325-335
-
-
Reddy, S.1
-
6
-
-
0033557293
-
DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model
-
Berul, C.I. et al. DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model. J. Clin. Invest. 103, R1-7 (1999).
-
(1999)
J. Clin. Invest.
, vol.103
-
-
Berul, C.I.1
-
7
-
-
0030845879
-
Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP
-
Klesert, T.R., Otten, A.D., Bird, T.D. & Tapscott, S.J. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nature Genet 16, 402-406 (1997).
-
(1997)
Nature Genet
, vol.16
, pp. 402-406
-
-
Klesert, T.R.1
Otten, A.D.2
Bird, T.D.3
Tapscott, S.J.4
-
8
-
-
0030861573
-
Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene
-
Thornton, C.A., Wymer, J.P., Simmons, Z., McClain, C. & Moxley, R.T. III Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nature Genet. 16, 407-409 (1997).
-
(1997)
Nature Genet.
, vol.16
, pp. 407-409
-
-
Thornton, C.A.1
Wymer, J.P.2
Simmons, Z.3
McClain, C.4
Moxley R.T. III5
-
10
-
-
0030947268
-
Characterisation of expression of mDMAHP, a homeodomain-encoding gene at the murine DM locus
-
Heath, S.K., Carne, S., Hoyle, C., Johnson, K.J. & Wells, D.J. Characterisation of expression of mDMAHP, a homeodomain-encoding gene at the murine DM locus. Hum. Mol. Genet. 6, 651-657 (1997).
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 651-657
-
-
Heath, S.K.1
Carne, S.2
Hoyle, C.3
Johnson, K.J.4
Wells, D.J.5
-
11
-
-
0028151491
-
Possible role of apamin-sensitive K+ channels in myotonic dystrophy
-
Behrens, M.I., Jalil, P., Serani, A., Vergara, F. & Alvarez, O. Possible role of apamin-sensitive K+ channels in myotonic dystrophy. Muscle Nerve 17, 1264-1270 (1994).
-
(1994)
Muscle Nerve
, vol.17
, pp. 1264-1270
-
-
Behrens, M.I.1
Jalil, P.2
Serani, A.3
Vergara, F.4
Alvarez, O.5
-
12
-
-
0030044626
-
Neural control of the expression of a Ca(2+)-activated K+ channel involved in the induction of myotonic-like characteristics
-
Ramirez, B.U., Behrens, M.I. & Vergara, C. Neural control of the expression of a Ca(2+)-activated K+ channel involved in the induction of myotonic-like characteristics. Cell. Mol. Neurobiol. 16, 39-49 (1996).
-
(1996)
Cell. Mol. Neurobiol.
, vol.16
, pp. 39-49
-
-
Ramirez, B.U.1
Behrens, M.I.2
Vergara, C.3
-
13
-
-
0029916927
-
Structure, function and expression of a murine homeobox protein AREC3, a homologue of Drosophila sine oculis gene product, and implication in development
-
Kawakami, K., Ohto, H., Ikeda, K. & Roeder, R.G. Structure, function and expression of a murine homeobox protein AREC3, a homologue of Drosophila sine oculis gene product, and implication in development. Nucleic Acids Res. 24, 303-310 (1996).
-
(1996)
Nucleic Acids Res.
, vol.24
, pp. 303-310
-
-
Kawakami, K.1
Ohto, H.2
Ikeda, K.3
Roeder, R.G.4
-
14
-
-
0030590443
-
Identification and expression of six family genes in mouse retina
-
Kawakami, K., Ohto, H., Takizawa, T. & Saito, T. Identification and expression of six family genes in mouse retina. FEBS Lett. 393, 259-263 (1996).
-
(1996)
FEBS Lett.
, vol.393
, pp. 259-263
-
-
Kawakami, K.1
Ohto, H.2
Takizawa, T.3
Saito, T.4
-
15
-
-
0030046504
-
Skeletal muscle sarcoplasmic reticulum phenotype in myotonic dystrophy
-
Damiani, E. et al. Skeletal muscle sarcoplasmic reticulum phenotype in myotonic dystrophy. Neuromuscul. Disord. 6, 33-47 (1996).
-
(1996)
Neuromuscul. Disord.
, vol.6
, pp. 33-47
-
-
Damiani, E.1
-
16
-
-
0028244770
-
The Drosophila sine oculis locus encodes a homeodomain-containing protein required for the development of the entire visual system
-
Cheyette, B.N. et al. The Drosophila sine oculis locus encodes a homeodomain-containing protein required for the development of the entire visual system. Neuron 12, 977-996 (1994),
-
(1994)
Neuron
, vol.12
, pp. 977-996
-
-
Cheyette, B.N.1
-
17
-
-
0033558871
-
Six3 overexpression initiates the formation of ectopic retina
-
Loosli, F., Winkler, S. & Wittbrodt, J. Six3 overexpression initiates the formation of ectopic retina. Genes Dev. 13, 649-654 (1999).
-
(1999)
Genes Dev.
, vol.13
, pp. 649-654
-
-
Loosli, F.1
Winkler, S.2
Wittbrodt, J.3
-
18
-
-
0031444287
-
The eye-specification proteins So and Eya form a complex and regulate multiple steps in Drosophila eye development
-
Pignoni, F. et al. The eye-specification proteins So and Eya form a complex and regulate multiple steps in Drosophila eye development. Cell 91, 881-891 (1997).
-
(1997)
Cell
, vol.91
, pp. 881-891
-
-
Pignoni, F.1
-
19
-
-
0032825495
-
Cooperation of Six and Eya in activation of their target genes through nuclear translocation of Eya
-
Ohto, H. et al. Cooperation of Six and Eya in activation of their target genes through nuclear translocation of Eya. mol. Cell. biol. 19, 6815-6824 (1999).
-
(1999)
Mol. Cell. Biol.
, vol.19
, pp. 6815-6824
-
-
Ohto, H.1
-
20
-
-
0032977087
-
Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy
-
Winchester, C.L., Ferrier, R.K., Sermoni, A., Clark, B.J. & Johnson, K.J. Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy. Hum Mol Genet. 8, 481-492 (1999).
-
(1999)
Hum Mol Genet.
, vol.8
, pp. 481-492
-
-
Winchester, C.L.1
Ferrier, R.K.2
Sermoni, A.3
Clark, B.J.4
Johnson, K.J.5
-
21
-
-
0032076126
-
Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
-
Philips, A.V., Timchenko, L.T. & Cooper, T.A, Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280, 737-741 (1998).
-
(1998)
Science
, vol.280
, pp. 737-741
-
-
Philips, A.V.1
Timchenko, L.T.2
Cooper, T.A.3
-
22
-
-
0032837677
-
Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model
-
Amack, J.D., Paguio, A.P. & Mahadevan, M.S. Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model. Hum. Mol. Genet. 8, 1975-1984 (1999).
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1975-1984
-
-
Amack, J.D.1
Paguio, A.P.2
Mahadevan, M.S.3
-
23
-
-
0033073594
-
Myotonic dystrophy: The role of RNA CUG triplet repeats
-
Timchenko, L.T. Myotonic dystrophy: the role of RNA CUG triplet repeats. Am. J. Hum. Genet. 64, 360-364 (1999).
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 360-364
-
-
Timchenko, L.T.1
-
24
-
-
0029837246
-
Myotonic dystrophy: Will the real gene please step forward
-
Harris, S., Moncrieff, C. & Johnson, K. Myotonic dystrophy: will the real gene please step forward. Hum. Mol. Genet. 5, 1417-1423 (1996).
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1417-1423
-
-
Harris, S.1
Moncrieff, C.2
Johnson, K.3
-
25
-
-
0032211409
-
Expanding the complexity in myotonic dystrophy
-
Groenen, P. & Wieringa, B. Expanding the complexity in myotonic dystrophy. Bioessays 20, 901-912 (1998).
-
(1998)
Bioessays
, vol.20
, pp. 901-912
-
-
Groenen, P.1
Wieringa, B.2
-
26
-
-
0032520688
-
Myotonic dystrophy: Molecular windows on a complex etiology
-
Korade-Mirnics, Z., Babitzke, P. & Hoffman, E. Myotonic dystrophy: molecular windows on a complex etiology. Nucleic Acids Res. 26, 1363-1368 (1998).
-
(1998)
Nucleic Acids Res.
, vol.26
, pp. 1363-1368
-
-
Korade-Mirnics, Z.1
Babitzke, P.2
Hoffman, E.3
-
27
-
-
0031811594
-
Genetic mapping of a second myotonic dystrophy locus
-
Ranum, L.P., Rasmussen, P.F., Benzow, K.A., Koob, M.D. & Day, J.W. Genetic mapping of a second myotonic dystrophy locus. Nature Genet. 19, 196-198 (1998).
-
(1998)
Nature Genet.
, vol.19
, pp. 196-198
-
-
Ranum, L.P.1
Rasmussen, P.F.2
Benzow, K.A.3
Koob, M.D.4
Day, J.W.5
-
28
-
-
0032995065
-
Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)
-
Day, J.W. et al. Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Neuromuscul. Disord. 9, 19-27 (1999).
-
(1999)
Neuromuscul. Disord.
, vol.9
, pp. 19-27
-
-
Day, J.W.1
-
29
-
-
0028845993
-
Inhibition of lens opacification during the early stages of cataract formation
-
Hiraoka, T. & Clark, J.I. Inhibition of lens opacification during the early stages of cataract formation. Invest. Opthalmol. Vis. Sci. 36, 2550-2555 (1995).
-
(1995)
Invest. Opthalmol. Vis. Sci.
, vol.36
, pp. 2550-2555
-
-
Hiraoka, T.1
Clark, J.I.2
-
30
-
-
0029918607
-
Delay or inhibition of rat lens opacification using pantethine and WR-77913
-
Clark, J.I., Livesey, J.C. & Steele, J.E. Delay or inhibition of rat lens opacification using pantethine and WR-77913. Exp. Eye Res. 62, 75-84 (1996).
-
(1996)
Exp. Eye Res.
, vol.62
, pp. 75-84
-
-
Clark, J.I.1
Livesey, J.C.2
Steele, J.E.3
|