-
1
-
-
0026567370
-
Cloning of the essential myotonic dystrophy region and mapping of the putative defect
-
Aslanidis, C., Jansen, G., Amemiya, C., Shutler, G., Mahadevan, M., Tsilfidis, C., Chen, C., Alleman, J., Wormskamp, N.G., Vooijs, M. et al. (1992) Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature, 355, 548-551.
-
(1992)
Nature
, vol.355
, pp. 548-551
-
-
Aslanidis, C.1
Jansen, G.2
Amemiya, C.3
Shutler, G.4
Mahadevan, M.5
Tsilfidis, C.6
Chen, C.7
Alleman, J.8
Wormskamp, N.G.9
Vooijs, M.10
-
2
-
-
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., McCurrach, M.E., Harley, H.G., Buckler, H.J., Church, D., Aburatani, H., Hunter, K., Stanton, V.P., Thirion, J.P., Hudson, T. et al. (1992) 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)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
McCurrach, M.E.2
Harley, H.G.3
Buckler, H.J.4
Church, D.5
Aburatani, H.6
Hunter, K.7
Stanton, V.P.8
Thirion, J.P.9
Hudson, T.10
-
3
-
-
0026598119
-
An unstable triplet repeat in a gene related to myotonic muscular dystrophy
-
Fu, Y.H., Kuhl, D.P.A., Pizzuti, A., Fenwick, J.R.G., King, J., Rajnarayan, S., Dunne, P. W., Dubel, J., Nasser, G.A., Ashizawa, T. et al. (1992) An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science, 255, 1256-1258.
-
(1992)
Science
, vol.255
, pp. 1256-1258
-
-
Fu, Y.H.1
Kuhl, D.P.A.2
Pizzuti, A.3
Fenwick, J.R.G.4
King, J.5
Rajnarayan, S.6
Dunne, P.W.7
Dubel, J.8
Nasser, G.A.9
Ashizawa, T.10
-
4
-
-
0026603841
-
Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
-
Mahadevan, M., Tsilfidis, C., Sabourin, L., Shutler, G., Amemiya, C., Jansen, G., Neville, C., Narang, M., Barcelo, J., O'Hoy, K. et al. (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science, 255, 1253-1255.
-
(1992)
Science
, vol.255
, pp. 1253-1255
-
-
Mahadevan, M.1
Tsilfidis, C.2
Sabourin, L.3
Shutler, G.4
Amemiya, C.5
Jansen, G.6
Neville, C.7
Narang, M.8
Barcelo, J.9
O'Hoy, K.10
-
5
-
-
0028818586
-
A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat
-
Boucher, C.A., King, S.K., Carey, N., Krahe, R., Winchester, C.L., Rahman, S., Creavin, T., Meghji, P., Bailey, M.E., Chartier, F.L. et al. (1995) A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. Hum. Mol. Genet., 4, 1919-1925.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1919-1925
-
-
Boucher, C.A.1
King, S.K.2
Carey, N.3
Krahe, R.4
Winchester, C.L.5
Rahman, S.6
Creavin, T.7
Meghji, P.8
Bailey, M.E.9
Chartier, F.L.10
-
6
-
-
0028794822
-
Normal variation at the myotonic dystrophy locus in global human populations
-
Zerylnick, C., Torroni, A., Sherman, S.L. and Warren, S.T. (1995) Normal variation at the myotonic dystrophy locus in global human populations. Am. J. Hum. Genet., 56, 123-130.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 123-130
-
-
Zerylnick, C.1
Torroni, A.2
Sherman, S.L.3
Warren, S.T.4
-
7
-
-
0026885037
-
Anticipation in myotonic dystrophy: New light on an old problem
-
Harper, P.S., Hurley, H.G., Reardon, W. and Shaw, D.J. (1992) Anticipation in myotonic dystrophy: new light on an old problem. Am. J. Hum. Genet., 51, 10-16.
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 10-16
-
-
Harper, P.S.1
Hurley, H.G.2
Reardon, W.3
Shaw, D.J.4
-
8
-
-
0027485748
-
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy
-
Harley, H.G., Rundle, S.A., MacMillan, J.C., Myring, J., Brook, J.D., Crow, S., Reardon, W., Fenton, I., Shaw, D.J. and Harper, P.S. (1993) Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am. J. Hum. Genet., 52, 1164-1174.
-
(1993)
Am. J. Hum. Genet.
, vol.52
, pp. 1164-1174
-
-
Harley, H.G.1
Rundle, S.A.2
MacMillan, J.C.3
Myring, J.4
Brook, J.D.5
Crow, S.6
Reardon, W.7
Fenton, I.8
Shaw, D.J.9
Harper, P.S.10
-
9
-
-
0027410928
-
Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy
-
Lavedan, C., Hofmann-Radvanyi, H., Rabes, J.P., Roume, J. and Junien, C. (1993) Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy. Lancet, 341, 237.
-
(1993)
Lancet
, vol.341
, pp. 237
-
-
Lavedan, C.1
Hofmann-Radvanyi, H.2
Rabes, J.P.3
Roume, J.4
Junien, C.5
-
10
-
-
0027957470
-
Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
-
Thornton, C.A., Johnson, K. and Moxley, R.T., III (1994) Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann. Neurol., 35, 104-107.
-
(1994)
Ann. Neurol.
, vol.35
, pp. 104-107
-
-
Thornton, C.A.1
Johnson, K.2
Moxley R.T. III3
-
11
-
-
0027420436
-
Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM)
-
Brunner, H.G., Bruggenwirth, H.T., Nillesen, W., Jansen, G., Hamel, B.C., Hoppe, R.L., de Die, C.E., Howeler, C.J., van Oost, B.A., Wieringa, B. et al. (1993) Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM). Am. J. Hum. Genet., 53, 1016-1023.
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 1016-1023
-
-
Brunner, H.G.1
Bruggenwirth, H.T.2
Nillesen, W.3
Jansen, G.4
Hamel, B.C.5
Hoppe, R.L.6
De Die, C.E.7
Howeler, C.J.8
Van Oost, B.A.9
Wieringa, B.10
-
12
-
-
0028013626
-
Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy
-
Ashizawa, T., Anvret, M., Baiget, M., Barcelo, J.M., Brunner, H., Cobo, A.M., Dallapiccola, B., Fenwick, R.G., Jr, Grandell, U., Harley, H. et al. (1994) Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am. J. Hum. Genet., 54, 414-423.
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 414-423
-
-
Ashizawa, T.1
Anvret, M.2
Baiget, M.3
Barcelo, J.M.4
Brunner, H.5
Cobo, A.M.6
Dallapiccola, B.7
Fenwick R.G., Jr.8
Grandell, U.9
Harley, H.10
-
13
-
-
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
-
14
-
-
0028058252
-
Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring
-
Ashizawa, T., Dunne, P.W., Ward, P.A., Seltzer, W.K. and Richards, C.S. (1994) Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring. Neurology, 44, 120-122.
-
(1994)
Neurology
, vol.44
, pp. 120-122
-
-
Ashizawa, T.1
Dunne, P.W.2
Ward, P.A.3
Seltzer, W.K.4
Richards, C.S.5
-
15
-
-
0030985156
-
The complex pathology of trinucleotide repeats
-
Reddy, P.S. and Housman, D.E. (1997) The complex pathology of trinucleotide repeats. Curr. Opin. Genet. Dev., 9, 364-372.
-
(1997)
Curr. Opin. Genet. Dev.
, vol.9
, pp. 364-372
-
-
Reddy, P.S.1
Housman, D.E.2
-
16
-
-
0002025927
-
-
Wells, R.D. and Warren, S.T. (eds), Academic Press, San Diego, CA
-
Harper, P.S. (1998) In Wells, R.D. and Warren, S.T. (eds), Genetics Instabilities and Heriditary Neurological Diseases. Academic Press, San Diego, CA, pp. 115-130.
-
(1998)
Genetics Instabilities and Heriditary Neurological Diseases
, pp. 115-130
-
-
Harper, P.S.1
-
17
-
-
0027257735
-
Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
-
Anvret, M., Ahlberg, G., Grandell, U., Hedberg, B., Johnson, K. and Edstrom, L. (1993) Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum. Mol. Genet., 2, 1397-1400.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1397-1400
-
-
Anvret, M.1
Ahlberg, G.2
Grandell, U.3
Hedberg, B.4
Johnson, K.5
Edstrom, L.6
-
18
-
-
0027716510
-
Somatic instability of CTG repeat in myotonic dystrophy
-
Ashizawa, T., Dubel, J.R. and Harati, Y. (1993) Somatic instability of CTG repeat in myotonic dystrophy. Neurology, 43, 2674-2678.
-
(1993)
Neurology
, vol.43
, pp. 2674-2678
-
-
Ashizawa, T.1
Dubel, J.R.2
Harati, Y.3
-
19
-
-
0028355538
-
Gonosomal mosaicism in myotonic dystrophy patients: Involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm
-
Jansen, G., Willems, P., Coerwinkel, M., Nillesen, W., Smeets, H., Vits, L., Howeler, C., Brunner, H. and Wieringa, B. (1994) Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm. Am. J. Hum. Genet., 54, 575-585.
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 575-585
-
-
Jansen, G.1
Willems, P.2
Coerwinkel, M.3
Nillesen, W.4
Smeets, H.5
Vits, L.6
Howeler, C.7
Brunner, H.8
Wieringa, B.9
-
20
-
-
0030071077
-
(CTG)n expansions in various tissues from a myotonic dystrophy patient
-
Kinoshita, M., Takahashi, R., Hasegawa, T., Komori, T., Nagasawa, R., Hirose, K. and Tanabe, H. ( 1996) (CTG)n expansions in various tissues from a myotonic dystrophy patient. Muscle Nerve, 19, 240-242.
-
(1996)
Muscle Nerve
, vol.19
, pp. 240-242
-
-
Kinoshita, M.1
Takahashi, R.2
Hasegawa, T.3
Komori, T.4
Nagasawa, R.5
Hirose, K.6
Tanabe, H.7
-
21
-
-
0028873248
-
Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses
-
Monckton, D.G., Wong, L.J.C., Ashizawa, T. and Caskey, C.T. (1995) Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum. Mol. Genet., 4, 1-8.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1-8
-
-
Monckton, D.G.1
Wong, L.J.C.2
Ashizawa, T.3
Caskey, C.T.4
-
22
-
-
0028890669
-
Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent
-
Wong, L.J.C., Ashizawa, T., Monckton, D.G., Caskey, C.T. and Richards, C.S. (1995) Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am. J. Hum. Genet., 56, 114-122.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 114-122
-
-
Wong, L.J.C.1
Ashizawa, T.2
Monckton, D.G.3
Caskey, C.T.4
Richards, C.S.5
-
23
-
-
0031984489
-
Progression of somatic CTG repeat lengh heterogeneity in the blood cells of myotonic dystrophy patients
-
Martorell, L., Monckton, D.G., Gamez, J., Johnson, K.J., Gich, I., Lopez de Minain, A. and Baiget, M. (1998) Progression of somatic CTG repeat lengh heterogeneity in the blood cells of myotonic dystrophy patients. Hum. Mol. Genet., 7, 307-312.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 307-312
-
-
Martorell, L.1
Monckton, D.G.2
Gamez, J.3
Johnson, K.J.4
Gich, I.5
Lopez De Minain, A.6
Baiget, M.7
-
24
-
-
0030915868
-
Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development
-
Martorell, L., Johnson, K. and Boucher, C.A. (1997) Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development. Hum. Mol. Genet., 6, 877-880.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 877-880
-
-
Martorell, L.1
Johnson, K.2
Boucher, C.A.3
-
25
-
-
0032971232
-
Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: Associations with flanking GC content and proximity to CpG islands
-
Brock, G.J.R., Niall, H.A. and Monckton, D.G. (1999) Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands. Hum. Mol. Genet., 8, 1061-1067.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1061-1067
-
-
Brock, G.J.R.1
Niall, H.A.2
Monckton, D.G.3
-
26
-
-
0028788635
-
Mismatch repair in Escherichia coli enhances instability of (CTG)n triplet repeats from human hereditary diseases
-
Jaworski, A., Rosche, W.A., Gellibolian, R., Kang, S., Shimizu, M., Bowater, R.P., Sinden, R.R. and Wells, R.D. (1995) Mismatch repair in Escherichia coli enhances instability of (CTG)n triplet repeats from human hereditary diseases. Proc. Natl Acad. Sci. USA, 92, 11019-11023.
-
(1995)
Proc. Natl Acad. Sci. USA
, vol.92
, pp. 11019-11023
-
-
Jaworski, A.1
Rosche, W.A.2
Gellibolian, R.3
Kang, S.4
Shimizu, M.5
Bowater, R.P.6
Sinden, R.R.7
Wells, R.D.8
-
27
-
-
0029915847
-
CTG triplet repeats from the myotonic dystrophy gene are expanded in Escherichia coli distal to the replication origin as a single large event
-
Kang, S., Ohshima, K., Jaworski, A. and Wells, R.D. (1996) CTG triplet repeats from the myotonic dystrophy gene are expanded in Escherichia coli distal to the replication origin as a single large event. J. Mol. Biol., 258, 543-547.
-
(1996)
J. Mol. Biol.
, vol.258
, pp. 543-547
-
-
Kang, S.1
Ohshima, K.2
Jaworski, A.3
Wells, R.D.4
-
28
-
-
0030895078
-
Stability of the CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome
-
Freudenreich, C.H., Stavenhagen, J.B. and Zakian, V.A. (1997) Stability of the CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome. Mol. Cell. Biol., 17, 2090-2098.
-
(1997)
Mol. Cell. Biol.
, vol.17
, pp. 2090-2098
-
-
Freudenreich, C.H.1
Stavenhagen, J.B.2
Zakian, V.A.3
-
29
-
-
0031057683
-
Destabilization of CAG trinucleotide repeat tracts by mismatch repair mutations in yeast
-
Schweitzer, J.K. and Livingston, D.M. (1997) Destabilization of CAG trinucleotide repeat tracts by mismatch repair mutations in yeast. Hum. Mol. Genet., 6, 349-355.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 349-355
-
-
Schweitzer, J.K.1
Livingston, D.M.2
-
30
-
-
0031965224
-
Expansions of CAG repeat tracts are frequent in a yeast mutant defective in Okazaki fragment maturation
-
Schweitzer, J.K. and Livingston, D.M. (1998) Expansions of CAG repeat tracts are frequent in a yeast mutant defective in Okazaki fragment maturation. Hum. Mol. Genet., 7, 69-74.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 69-74
-
-
Schweitzer, J.K.1
Livingston, D.M.2
-
31
-
-
0032514990
-
CTG repeats show bimodal amplification in E.coli
-
Sarkar, P.S., Chang, H.-C., Boudi, F.B. and Reddy, S. (1998) CTG repeats show bimodal amplification in E.coli. Cell, 95, 531-540.
-
(1998)
Cell
, vol.95
, pp. 531-540
-
-
Sarkar, P.S.1
Chang, H.-C.2
Boudi, F.B.3
Reddy, S.4
-
32
-
-
0033574043
-
Triplet repeats form secondary structures that escape DNA repair in yeast
-
Moore, H., Greenwell, P.W., Liu, C.P., Amheim, M. and Petes, T.D. (1999) Triplet repeats form secondary structures that escape DNA repair in yeast. Proc. Natl Acad. Sci. USA, 96, 1504-1509.
-
(1999)
Proc. Natl Acad. Sci. USA
, vol.96
, pp. 1504-1509
-
-
Moore, H.1
Greenwell, P.W.2
Liu, C.P.3
Amheim, M.4
Petes, T.D.5
-
33
-
-
0029053371
-
Trinucleotide repeats that expand in human disease form hairpin structures in vitro
-
Gacy, A.M., Goellner, G., Juranic, N., Macura, S. and McMurray, C.T. (1995) Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell, 81, 533-540.
-
(1995)
Cell
, vol.81
, pp. 533-540
-
-
Gacy, A.M.1
Goellner, G.2
Juranic, N.3
Macura, S.4
McMurray, C.T.5
-
34
-
-
0000486352
-
-
Wells, R.D. and Warren, S.T. (eds), Academic Press, San Diego, CA
-
Pearson, C.E. and Sinden, R.R. (1998) In Wells, R.D. and Warren, S.T. (eds), Genetics Instabilities and Heriditary Neurological Diseases. Academic Press, San Diego, CA, pp. 585-623.
-
(1998)
Genetics Instabilities and Heriditary Neurological Diseases
, pp. 585-623
-
-
Pearson, C.E.1
Sinden, R.R.2
-
35
-
-
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. Nature Genet., 9, 191-196.
-
(1995)
Nature 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
-
36
-
-
0029163222
-
SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
-
Burright, E.N., Clark, H.B., Servadio, A., Matilla, T., Feddersen, R.M., Yunis, W.S., Duvick, L.A., Zoghbi, H.Y. and Orr, H.T. (1995) SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell, 82, 937-948.
-
(1995)
Cell
, vol.82
, pp. 937-948
-
-
Burright, E.N.1
Clark, H.B.2
Servadio, A.3
Matilla, T.4
Feddersen, R.M.5
Yunis, W.S.6
Duvick, L.A.7
Zoghbi, H.Y.8
Orr, H.T.9
-
37
-
-
0030058208
-
Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo
-
Ikeda, H., Yamaguchi, H., 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. Nature Genet., 13, 196-202.
-
(1996)
Nature Genet.
, vol.13
, pp. 196-202
-
-
Ikeda, H.1
Yamaguchi, H.2
Sugai, S.3
Aze, Y.4
Narumiya, S.5
Kakizuka, A.6
-
38
-
-
9044229711
-
Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript
-
Goldberg, Y.P., Kalchman, M.A., Metlzer, M., Nasir, J., Zeisler, J., Graham, R., Koide, H.B., O'Kusky, J., Sharp, A.H., Ross, C.A. et al. (1996) Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript. Hum. Mol. Genet., 5, 177-185.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 177-185
-
-
Goldberg, Y.P.1
Kalchman, M.A.2
Metlzer, M.3
Nasir, J.4
Zeisler, J.5
Graham, R.6
Koide, H.B.7
O'Kusky, J.8
Sharp, A.H.9
Ross, C.A.10
-
39
-
-
0031038809
-
Moderate instability of a 55 CTG repeat in transgenic mice carrying a 45 kb genomic region from an affected DM patient
-
Gourdon, G., Radvanyi, F., Lia, A.S., Duros, C., Blanche, M., Abitbol, M., Junien, C. and Hofmann-Radvanyi, H. (1997) Moderate instability of a 55 CTG repeat in transgenic mice carrying a 45 kb genomic region from an affected DM patient. Nature Genet., 15, 190-192.
-
(1997)
Nature Genet.
, vol.15
, pp. 190-192
-
-
Gourdon, G.1
Radvanyi, F.2
Lia, A.S.3
Duros, C.4
Blanche, M.5
Abitbol, M.6
Junien, C.7
Hofmann-Radvanyi, H.8
-
40
-
-
0031054076
-
Hypermutable myotonic dystrophy CTG repeats in transgenic mice
-
Monckton, D.G., Coolbaugh, M.I., Ashizawa, K.T., Siciliano, M.J. and Caskey, C.T. (1997) Hypermutable myotonic dystrophy CTG repeats in transgenic mice. Nature Genet., 15, 193-196.
-
(1997)
Nature Genet.
, vol.15
, pp. 193-196
-
-
Monckton, D.G.1
Coolbaugh, M.I.2
Ashizawa, K.T.3
Siciliano, M.J.4
Caskey, C.T.5
-
41
-
-
0031056685
-
Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation
-
Mangiarini, L., Sathasivam, K., Mahal, A., Mott, R., Seller, M. and Bates, G.P. (1997) Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation. Nature Genet., 15, 197-200.
-
(1997)
Nature Genet.
, vol.15
, pp. 197-200
-
-
Mangiarini, L.1
Sathasivam, K.2
Mahal, A.3
Mott, R.4
Seller, M.5
Bates, G.P.6
-
42
-
-
0030700381
-
Increased trinucleotide repeat instability with advanced maternal age
-
Kaytor, M.D., Burright, E.N., Duvick, L.K., Zoghbi, H.Y. and Orr, H.T. (1997) Increased trinucleotide repeat instability with advanced maternal age. Hum. Mol. Genet., 6, 2135-2139.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 2135-2139
-
-
Kaytor, M.D.1
Burright, E.N.2
Duvick, L.K.3
Zoghbi, H.Y.4
Orr, H.T.5
-
43
-
-
0030613177
-
Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion
-
White, K.J., Auerbach, W., Duyao, M.P., Vonsattel, J.P.,. Gusella, J.F., Joyner, A.L. and MacDonald, M.E. (1997) Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nature Genet., 17, 404-410.
-
(1997)
Nature Genet.
, vol.17
, pp. 404-410
-
-
White, K.J.1
Auerbach, W.2
Duyao, M.P.3
Vonsattel, J.P.4
Gusella, J.F.5
Joyner, A.L.6
MacDonald, M.E.7
-
44
-
-
7144256250
-
Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability
-
La Spada, A.R., Peterson, K.R., Meadows, S.A., McClain, M.E., Jeng, G., Chmelar, R.S., Haugen, H.A., Chen, K., Singer, M.J., Moore, D. et al. (1998) Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability. Hum. Mol. Genet., 7, 959-967.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 959-967
-
-
La Spada, A.R.1
Peterson, K.R.2
Meadows, S.A.3
McClain, M.E.4
Jeng, G.5
Chmelar, R.S.6
Haugen, H.A.7
Chen, K.8
Singer, M.J.9
Moore, D.10
-
45
-
-
0032907359
-
Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients
-
Sato, T., Oyake, M., Nakamura, K., Nakao, K., Fukusima, Y., Onodera, O., Igarashi, S., Takano, H., Kikugawa, K., Ishida, Y. et al. (1999) Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients. Hum. Mol. Genet., 8, 99-106.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 99-106
-
-
Sato, T.1
Oyake, M.2
Nakamura, K.3
Nakao, K.4
Fukusima, Y.5
Onodera, O.6
Igarashi, S.7
Takano, H.8
Kikugawa, K.9
Ishida, Y.10
-
46
-
-
0032938295
-
Length-dependent gametic CAG repeat instability in the Huntington's disease knockin mouse
-
Wheeler, V.C., Auerbach, W., White, J.K., Srinidhi, J., Auerbach, A., Ryan, A., Duyao, M.P., Vrbanac, V., Weaver, M., Gusella, J.F. et al. (1999) Length-dependent gametic CAG repeat instability in the Huntington's disease knockin mouse. Hum. Mol. Genet., 8, 115-122.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 115-122
-
-
Wheeler, V.C.1
Auerbach, W.2
White, J.K.3
Srinidhi, J.4
Auerbach, A.5
Ryan, A.6
Duyao, M.P.7
Vrbanac, V.8
Weaver, M.9
Gusella, J.F.10
-
47
-
-
0031827446
-
DM associated CTG instability is age-dependent but transcriptional-independent in transgenic mice
-
Lia, A., Seznec, H., Hofmann-Radvanyi, H., Radvanyi, F., Duros, C., Saquet, C., Blanche, M., Junien, C. and Gourdon, G. (1998) DM associated CTG instability is age-dependent but transcriptional-independent in transgenic mice. Hum. Mol. Genet., 7, 1285-1291.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1285-1291
-
-
Lia, A.1
Seznec, H.2
Hofmann-Radvanyi, H.3
Radvanyi, F.4
Duros, C.5
Saquet, C.6
Blanche, M.7
Junien, C.8
Gourdon, G.9
-
48
-
-
0029038947
-
Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus
-
Jansen, G., Bachner, D., Coerwinkel, M., Wormskamp, N., Hameister, H. and Wieringa, B. (1995) Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus. Hum. Mol. Genet., 4, 843-852.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 843-852
-
-
Jansen, G.1
Bachner, D.2
Coerwinkel, M.3
Wormskamp, N.4
Hameister, H.5
Wieringa, B.6
-
49
-
-
0026536403
-
Inverse relationship between age at onset of Huntington's disease and paternal age suggests involvement of genetic imprinting
-
Farrer, L.A., Cupples, L.A., Kiely, D.K., Conneally, P.M. and Myers, R.H. (1992) Inverse relationship between age at onset of Huntington's disease and paternal age suggests involvement of genetic imprinting. Am. J. Hum. Genet., 50, 528-535.
-
(1992)
Am. J. Hum. Genet.
, vol.50
, pp. 528-535
-
-
Farrer, L.A.1
Cupples, L.A.2
Kiely, D.K.3
Conneally, P.M.4
Myers, R.H.5
-
50
-
-
0034639711
-
Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability
-
Fortune, M.T., Vassilopoulos, C., Coolbaugh, M.I., Siciliano, M.J. and Monckton, D.G. (2000) Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability. Hum. Mol. Genet., 9, 439-445.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 439-445
-
-
Fortune, M.T.1
Vassilopoulos, C.2
Coolbaugh, M.I.3
Siciliano, M.J.4
Monckton, D.G.5
-
51
-
-
2642647114
-
Initiation of DNA replication at CpG islands in mammalian chromosomes
-
Delgado, S., Gomez, M., Bird, A. and Antequera, F. (1998) Initiation of DNA replication at CpG islands in mammalian chromosomes. EMBO J., 17, 2426-2435.
-
(1998)
EMBO J.
, vol.17
, pp. 2426-2435
-
-
Delgado, S.1
Gomez, M.2
Bird, A.3
Antequera, F.4
-
52
-
-
0031025093
-
DNA double-strand breaks caused by replication arrest
-
Michel, B., Ehrlich, S.D. and Uzest, M. (1997) DNA double-strand breaks caused by replication arrest. EMBO J., 16, 430-438.
-
(1997)
EMBO J.
, vol.16
, pp. 430-438
-
-
Michel, B.1
Ehrlich, S.D.2
Uzest, M.3
-
53
-
-
0032488872
-
Expansion and length-dependent fragility of CTG repeats in yeast
-
Freudenreich, C.H., Kantrow, S.M. and Zakian, V.A. (1998) Expansion and length-dependent fragility of CTG repeats in yeast. Science, 279, 853-856.
-
(1998)
Science
, vol.279
, pp. 853-856
-
-
Freudenreich, C.H.1
Kantrow, S.M.2
Zakian, V.A.3
-
54
-
-
0031157846
-
Repeat expansion - All in a flap?
-
Gordenin, D.A., Kunkel, T.A. and Resnick, M.A. (1997) Repeat expansion -all in a flap? Nature Genet., 16, 116-118.
-
(1997)
Nature Genet.
, vol.16
, pp. 116-118
-
-
Gordenin, D.A.1
Kunkel, T.A.2
Resnick, M.A.3
-
55
-
-
0032708840
-
Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice
-
Manley, K., Shirley, T.L., Flaherty, L. and Messer, A. (1999) Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nature Genet., 23, 471-473.
-
(1999)
Nature Genet.
, vol.23
, pp. 471-473
-
-
Manley, K.1
Shirley, T.L.2
Flaherty, L.3
Messer, A.4
-
56
-
-
0032211409
-
Expanding complexity in myotonic dystrophy
-
Groenen, P. and Wieringa, B. (1998) Expanding complexity in myotonic dystrophy. BioEssays, 20, 901-912.
-
(1998)
BioEssays
, vol.20
, pp. 901-912
-
-
Groenen, P.1
Wieringa, B.2
-
57
-
-
0032520688
-
Myotonic dystrophy: Molecular windows on a complex etiology
-
Korade-Mirnics, Z., Babitzke, P. and Hoffman, E. (1998) Myotonic dystrophy: molecular windows on a complex etiology. Nucleic Acids Res., 26, 1363-1368.
-
(1998)
Nucleic Acids Res.
, vol.26
, pp. 1363-1368
-
-
Korade-Mirnics, Z.1
Babitzke, P.2
Hoffman, E.3
-
58
-
-
0033073594
-
Myotonic dystrophy: The role of RNA CUG triplet repeats
-
Timchenko, L.T. (1999) Myotonic dystrophy: the role of RNA CUG triplet repeats. Am. J. Hum. Genet., 64, 360-364.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 360-364
-
-
Timchenko, L.T.1
-
59
-
-
0028364565
-
Complex gene conversion events in germline mutation at human minisatellites
-
Jeffreys, A.J., Tamaki, K., MacLeod, A., Monckton, D.G., Neil, D.L. and Armour, J.A. (1994) Complex gene conversion events in germline mutation at human minisatellites. Nature Genet., 6, 136-145.
-
(1994)
Nature Genet.
, vol.6
, pp. 136-145
-
-
Jeffreys, A.J.1
Tamaki, K.2
MacLeod, A.3
Monckton, D.G.4
Neil, D.L.5
Armour, J.A.6
-
60
-
-
0025141652
-
Repeat unit sequence variation in minisatellites: A novel source of polymorphism for studying allelic variation and mutation by single molecule analysis
-
Jeffreys, A., Neumann, R. and Wilson, V. (1990) Repeat unit sequence variation in minisatellites: a novel source of polymorphism for studying allelic variation and mutation by single molecule analysis. Cell, 60, 473-485.
-
(1990)
Cell
, vol.60
, pp. 473-485
-
-
Jeffreys, A.1
Neumann, R.2
Wilson, V.3
|