-
1
-
-
0028878844
-
Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice
-
Bingham, P.M., Scott, M.O., Wang, S., McPhaul, M.J., Wilson, E.M., Garbern, J.Y., Merry, D.E., and Fischbeck K.H. (1995). Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice. Nat. Genet. 9, 191-196.
-
(1995)
Nat. Genet.
, vol.9
, pp. 191-196
-
-
Bingham, P.M.1
Scott, M.O.2
Wang, S.3
McPhaul, M.J.4
Wilson, E.M.5
Garbern, J.Y.6
Merry, D.E.7
Fischbeck, K.H.8
-
2
-
-
0030883022
-
Comparison of bicoid-dependent regulation of hunchback between Musca domestica and Drosophila melanogaster
-
Bonneton, F., Shaw, P.J., Fazakerley, C., Shi, M., and Dover, G.A. (1997). Comparison of bicoid-dependent regulation of hunchback between Musca domestica and Drosophila melanogaster. Mech. Dev. 66, 143-156.
-
(1997)
Mech. Dev.
, vol.66
, pp. 143-156
-
-
Bonneton, F.1
Shaw, P.J.2
Fazakerley, C.3
Shi, M.4
Dover, G.A.5
-
3
-
-
17344371397
-
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
-
Brais, B., Bouchard, J.-P., Xie, Y.G., Rochefort, D.L., Chrétien, N., Tomé, F.M.S., Lafrenière, R.G., Rommens, J.M., Uyama, E., Nohira, O., et al. (1998). Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat. Genet. 18, 164-167.
-
(1998)
Nat. Genet.
, vol.18
, pp. 164-167
-
-
Brais, B.1
Bouchard, J.-P.2
Xie, Y.G.3
Rochefort, D.L.4
Chrétien, N.5
Tomé, F.M.S.6
Lafrenière, R.G.7
Rommens, J.M.8
Uyama, E.9
Nohira, O.10
-
4
-
-
0031985869
-
Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy
-
Butler, R., Leigh, P.N., McPhaul, M.J., and Gallo, J.-M. (1998). Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy. Hum. Mol. Genet. 7, 121-127.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 121-127
-
-
Butler, R.1
Leigh, P.N.2
McPhaul, M.J.3
Gallo, J.-M.4
-
5
-
-
0027495515
-
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1
-
Chung, M.-y., Ranum, L.P.W., Duvick, L.A., Servadio, A., Zoghbi, H.Y., and Orr, H.T. (1993) Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nat. Genet. 5, 254-258.
-
(1993)
Nat. Genet.
, vol.5
, pp. 254-258
-
-
Chung, M.-Y.1
Ranum, L.P.W.2
Duvick, L.A.3
Servadio, A.4
Zoghbi, H.Y.5
Orr, H.T.6
-
6
-
-
0029795181
-
Molecular cloning and characterization of a novel mouse macrophage gene that encodes a nuclear protein comprising polyglutamine repeats and interspersing histidines
-
Cox, G.W., Taylor, L.S., Willis, J.D., Melillo, G., White III, R.L., Anderson, S.K., and Lin, J.J. (1996). Molecular cloning and characterization of a novel mouse macrophage gene that encodes a nuclear protein comprising polyglutamine repeats and interspersing histidines. J. Biol. Chem. 271, 25515-25523.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 25515-25523
-
-
Cox, G.W.1
Taylor, L.S.2
Willis, J.D.3
Melillo, G.4
White R.L. III5
Anderson, S.K.6
Lin, J.J.7
-
7
-
-
2642654225
-
Shared themes of antigenic variation and virulence in bacterial, protozoal, and fungal infections
-
Deitsch, K.W., Moxon, E.R., and Wellems, T.E. (1997). Shared themes of antigenic variation and virulence in bacterial, protozoal, and fungal infections. Microbiol. Mol. Biol. Rev. 61, 281-293.
-
(1997)
Microbiol. Mol. Biol. Rev.
, vol.61
, pp. 281-293
-
-
Deitsch, K.W.1
Moxon, E.R.2
Wellems, T.E.3
-
8
-
-
0030752709
-
Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain
-
DiFiglia, M., Sapp, E., Chase, K.O., Davies, S.W., Bates, G.P., Vonsattel, J.P., and Aronin, N. (1997). Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 277, 1990-1993.
-
(1997)
Science
, vol.277
, pp. 1990-1993
-
-
DiFiglia, M.1
Sapp, E.2
Chase, K.O.3
Davies, S.W.4
Bates, G.P.5
Vonsattel, J.P.6
Aronin, N.7
-
9
-
-
0029916569
-
Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome
-
Eichler, E.E., Macpherson, J.N., Murray, A., Jacobs, P.A., Chakravarti, A., and Nelson, D.L. (1996). Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. Hum. Mol. Genet. 5, 319-330.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 319-330
-
-
Eichler, E.E.1
Macpherson, J.N.2
Murray, A.3
Jacobs, P.A.4
Chakravarti, A.5
Nelson, D.L.6
-
10
-
-
0032012128
-
GAA instability in Friedreich's ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases
-
Gacy, A.M., Goellner, G.M., Spiro, C., Chen, X., Gupta, G., Bradbury, E.M., Dyer, R.B., Mikesell, M.J., Yao, J.Z., Johnson, A.J., et al. (1998). GAA instability in Friedreich's ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases. Mol. Cell 1, 583-593.
-
(1998)
Mol. Cell
, vol.1
, pp. 583-593
-
-
Gacy, A.M.1
Goellner, G.M.2
Spiro, C.3
Chen, X.4
Gupta, G.5
Bradbury, E.M.6
Dyer, R.B.7
Mikesell, M.J.8
Yao, J.Z.9
Johnson, A.J.10
-
11
-
-
9344227302
-
Cleavage of huntingtin by apopain, a proapoptotic cystein protease, is modulated by the polyglutamine tract
-
Goldberg, Y.P., Nicholson, D.W., Rasper, D.M., Kalchman, M.A., Koide, H.B., Graham, R.K., Bromm, M., Kazemi-Esfarjani, P., Thornberry, N.A., Vaillancourt, J.P., and Hayden, M.R. (1996). Cleavage of huntingtin by apopain, a proapoptotic cystein protease, is modulated by the polyglutamine tract. Nat. Genet. 13, 442-449.
-
(1996)
Nat. Genet.
, vol.13
, pp. 442-449
-
-
Goldberg, Y.P.1
Nicholson, D.W.2
Rasper, D.M.3
Kalchman, M.A.4
Koide, H.B.5
Graham, R.K.6
Bromm, M.7
Kazemi-Esfarjani, P.8
Thornberry, N.A.9
Vaillancourt, J.P.10
Hayden, M.R.11
-
12
-
-
0031157846
-
Repeat expansion-all in a flap?
-
Gordenin, D.A., Kunkel, T.A., and Resnick, M.A. (1997). Repeat expansion-all in a flap? Nat. Genet. 16, 116-118.
-
(1997)
Nat. Genet.
, vol.16
, pp. 116-118
-
-
Gordenin, D.A.1
Kunkel, T.A.2
Resnick, M.A.3
-
13
-
-
0002645621
-
Amino acid repeats in proteins and the neurological diseases produced by polyglutamine
-
R.D. Wells and S.T. Warren, eds. (New York: Academic Press)
-
Green, H., and Djian, P. (1998). Amino acid repeats in proteins and the neurological diseases produced by polyglutamine. In Genetic Instabilities and Hereditary Neurological Diseases, R.D. Wells and S.T. Warren, eds. (New York: Academic Press), pp. 739-759.
-
(1998)
Genetic Instabilities and Hereditary Neurological Diseases
, pp. 739-759
-
-
Green, H.1
Djian, P.2
-
14
-
-
0030947268
-
Characterization of expression of mDMHAP, a homeodomain-encoding gene at the murine DM locus
-
Heath, S.K., Carne, S., Hoyle, C., Johnson, K.J., and Wells, D.J. (1997). Characterization of expression of mDMHAP, a homeodomain-encoding gene at the murine DM locus. Hum. Mol. Genet. 6, 651-657.
-
(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
-
15
-
-
0030058208
-
Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo
-
Ikeda, H., Yamaguchi, M., Sugai, S., Aze, Y., Narumiya, S., and Kakizuka, A. (1996) Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat. Genet. 13, 196-202.
-
(1996)
Nat. Genet.
, vol.13
, pp. 196-202
-
-
Ikeda, H.1
Yamaguchi, M.2
Sugai, S.3
Aze, Y.4
Narumiya, S.5
Kakizuka, A.6
-
16
-
-
8944235350
-
Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice
-
Jansen, G., Groenen, P.J., Bachner, D., Jap, P.H., Coerwinkel, M., Oerlemans, F., van den Broek, W., Gohlsch, B., Pette, D., Plomp, J.J., Molenaar, P.C., Nederhoff, M.G., van Echteld, C.J., Dekker, M., Berns, A., Hameister, H., and Wieringa, B. (1996). Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nat. Genet. 13, 316-324.
-
(1996)
Nat. Genet.
, vol.13
, pp. 316-324
-
-
Jansen, G.1
Groenen, P.J.2
Bachner, D.3
Jap, P.H.4
Coerwinkel, M.5
Oerlemans, F.6
Van Den Broek, W.7
Gohlsch, B.8
Pette, D.9
Plomp, J.J.10
Molenaar, P.C.11
Nederhoff, M.G.12
Van Echteld, C.J.13
Dekker, M.14
Berns, A.15
Hameister, H.16
Wieringa, B.17
-
17
-
-
0030845879
-
Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMHAP
-
Klesert, T.R., Otten, A.D., Bird, T.D., and Tapscott, S.J. (1997). Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMHAP. Nat Genet. 16, 402-406.
-
(1997)
Nat Genet.
, vol.16
, pp. 402-406
-
-
Klesert, T.R.1
Otten, A.D.2
Bird, T.D.3
Tapscott, S.J.4
-
18
-
-
0027366978
-
Myotonic dystrophy: Size-and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism
-
Lavedan, C., Hofmann-Radvanyi, H., Shelbourne, P., Rabes, J.P., Duros, C., Savoy, D., Dehaupas, I., Luce, S., Johnson, K., and Junien, C. (1993). Myotonic dystrophy: size-and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. Am. J. Hum. Genet. 52, 875-883.
-
(1993)
Am. J. Hum. Genet.
, vol.52
, pp. 875-883
-
-
Lavedan, C.1
Hofmann-Radvanyi, H.2
Shelbourne, P.3
Rabes, J.P.4
Duros, C.5
Savoy, D.6
Dehaupas, I.7
Luce, S.8
Johnson, K.9
Junien, C.10
-
19
-
-
0029932799
-
Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex ("epidermal differentiation complex") on human chromosome 1q21
-
Mischke, D., Korge, B.P., Marenholz, I., Volz, A., and Ziegler, A. (1996). Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex ("epidermal differentiation complex") on human chromosome 1q21. J. Invest. Dermatol. 106, 989-992.
-
(1996)
J. Invest. Dermatol.
, vol.106
, pp. 989-992
-
-
Mischke, D.1
Korge, B.P.2
Marenholz, I.3
Volz, A.4
Ziegler, A.5
-
20
-
-
0032102835
-
Trinucleotide repeat DNA structures: Dynamic mutations from dynamic DNA
-
in press
-
Pearson, C.E., and Sinden, R.R. (1998). Trinucleotide repeat DNA structures: dynamic mutations from dynamic DNA. Curr. Opin. Struct. Biol., in press.
-
(1998)
Curr. Opin. Struct. Biol.
-
-
Pearson, C.E.1
Sinden, R.R.2
-
21
-
-
0032562132
-
Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation
-
Pearson, C.E., Eichler, E.E., Lorenzetti, D., Kramer, S.F., Zoghbi, H.Y., Nelson, D.L., and Sinden, R.R. (1998). Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation. Biochemistry 37, 2701-2708.
-
(1998)
Biochemistry
, vol.37
, pp. 2701-2708
-
-
Pearson, C.E.1
Eichler, E.E.2
Lorenzetti, D.3
Kramer, S.F.4
Zoghbi, H.Y.5
Nelson, D.L.6
Sinden, R.R.7
-
22
-
-
0032076126
-
Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
-
Philips, A.V., Timchenko, L.T., and Cooper T. A. (1998). Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280, 737-741.
-
(1998)
Science
, vol.280
, pp. 737-741
-
-
Philips, A.V.1
Timchenko, L.T.2
Cooper, T.A.3
-
23
-
-
8944259903
-
Mice lacking the myotonic dystrophy kinase develop a late onset progressive myopathy
-
Reddy, S., Smith, D.B., Rich, M.M., Leferovich, J.M., Reilly, P., Davis, B.M., Tran, K., Rayburn, H., Bronson, R., Cros, D., Balice-Gordon, R.J., and Housman, D. (1996). Mice lacking the myotonic dystrophy kinase develop a late onset progressive myopathy. Nat. Genet. 13, 325-335.
-
(1996)
Nat. Genet.
, vol.13
, pp. 325-335
-
-
Reddy, S.1
Smith, D.B.2
Rich, M.M.3
Leferovich, J.M.4
Reilly, P.5
Davis, B.M.6
Tran, K.7
Rayburn, H.8
Bronson, R.9
Cros, D.10
Balice-Gordon, R.J.11
Housman, D.12
-
24
-
-
0030058075
-
Molecular basis of genetic instability of triplet repeats
-
Wells, R.D. (1996). Molecular basis of genetic instability of triplet repeats. J. Biol. Chem. 271, 2875-2878.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 2875-2878
-
-
Wells, R.D.1
|