-
1
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox
-
Fu Y.-H., Kuhl D.P.A., Pizzuti A., Pieretti M., Sutcliffe J.S., Richards S., Verkerk A.J.M.H., Holden J.J.A., Fenwick Jr. R.G., Warren S.T., Oostra B.A., Nelson D.L., and Caskey C.T. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67 (1991) 1047-1058
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.-H.1
Kuhl, D.P.A.2
Pizzuti, A.3
Pieretti, M.4
Sutcliffe, J.S.5
Richards, S.6
Verkerk, A.J.M.H.7
Holden, J.J.A.8
Fenwick Jr., R.G.9
Warren, S.T.10
Oostra, B.A.11
Nelson, D.L.12
Caskey, C.T.13
-
2
-
-
0027203684
-
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
-
Knight S.J.L., Flannery A.V., Hirst M.C., Campbell L., Christodoulou Z., Phelps S.R., Pointon J., Middleton-Price H., Barnicoat A., Pembrey M.E., Holland J., Oostra B.A., Bobrow M., and Davies K.E. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74 (1993) 127-134
-
(1993)
Cell
, vol.74
, pp. 127-134
-
-
Knight, S.J.L.1
Flannery, A.V.2
Hirst, M.C.3
Campbell, L.4
Christodoulou, Z.5
Phelps, S.R.6
Pointon, J.7
Middleton-Price, H.8
Barnicoat, A.9
Pembrey, M.E.10
Holland, J.11
Oostra, B.A.12
Bobrow, M.13
Davies, K.E.14
-
3
-
-
13344270899
-
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V., Montermini L., Moltò M.D., Pianese L., Cossée M., Cavalcanti F., Monros E., Rodius F., Duclos F., Monticelli A., Zara F., Cañizares J., Koutnikova H., Bidichandani S.I., Gellera C., Brice A., Trouillas P., De Michele G., Filla A., De Frutos R., Palau F., Patel P.I., Di Donato S., Mandel J.-L., Cocozza S., Koenig M., and Pandolfo M. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271 (1996) 1423-1427
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Moltò, M.D.3
Pianese, L.4
Cossée, M.5
Cavalcanti, F.6
Monros, E.7
Rodius, F.8
Duclos, F.9
Monticelli, A.10
Zara, F.11
Cañizares, J.12
Koutnikova, H.13
Bidichandani, S.I.14
Gellera, C.15
Brice, A.16
Trouillas, P.17
De Michele, G.18
Filla, A.19
De Frutos, R.20
Palau, F.21
Patel, P.I.22
Di Donato, S.23
Mandel, J.-L.24
Cocozza, S.25
Koenig, M.26
Pandolfo, M.27
more..
-
4
-
-
0035800434
-
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
-
Liquori C.L., Ricker K., Moseley M.L., Jacobsen J.F., Kress W., Naylor S.L., Day J.W., and Ranum L.P. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293 (2001) 864-867
-
(2001)
Science
, vol.293
, pp. 864-867
-
-
Liquori, C.L.1
Ricker, K.2
Moseley, M.L.3
Jacobsen, J.F.4
Kress, W.5
Naylor, S.L.6
Day, J.W.7
Ranum, L.P.8
-
5
-
-
0033771685
-
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
-
Matsuura T., Yamagata T., Burgess D.L., Rasmussen A., Grewal R.P., Watase K., Khajavi M., McCall A.E., Davis C.F., Zu L., Achari M., Pulst S.M., Alonso E., Noebels J.L., Nelson D.L., Zoghbi H.Y., and Ashizawa T. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat. Genet. 26 (2000) 191-194
-
(2000)
Nat. Genet.
, vol.26
, pp. 191-194
-
-
Matsuura, T.1
Yamagata, T.2
Burgess, D.L.3
Rasmussen, A.4
Grewal, R.P.5
Watase, K.6
Khajavi, M.7
McCall, A.E.8
Davis, C.F.9
Zu, L.10
Achari, M.11
Pulst, S.M.12
Alonso, E.13
Noebels, J.L.14
Nelson, D.L.15
Zoghbi, H.Y.16
Ashizawa, T.17
-
6
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72 (1993) 971-983
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
The Huntington's Disease Collaborative Research Group1
-
7
-
-
0026598119
-
An unstable triplet repeat in a gene related to myotonic muscular dystrophy
-
Fu Y.H., Pizzuti A., Fenwick R.G., King J., Rajnarayan S., Dunne P.W., Dubel J., Nasser G.A., Ashizawa T., de Jong P., Wieringa B., Korneluk R., Perryman M.B., Epstein H.F., and Caskey C.T. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255 (1992) 1256-1258
-
(1992)
Science
, vol.255
, pp. 1256-1258
-
-
Fu, Y.H.1
Pizzuti, A.2
Fenwick, R.G.3
King, J.4
Rajnarayan, S.5
Dunne, P.W.6
Dubel, J.7
Nasser, G.A.8
Ashizawa, T.9
de Jong, P.10
Wieringa, B.11
Korneluk, R.12
Perryman, M.B.13
Epstein, H.F.14
Caskey, C.T.15
-
8
-
-
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 A.J., Church D., Aburatani H., Hunter K., Stanton V.P., Thirion J.-P., Hudson T., Sohn R., Zemelman B., Snell R.G., Rundle S.A., Crow S., Davies J., Shelbourne P., Buxton J., Jones C., Juvonen V., Johnson K., Harper P.S., Shaw D.J., and Housman D.E. 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 (1992) 799-808
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
McCurrach, M.E.2
Harley, H.G.3
Buckler, A.J.4
Church, D.5
Aburatani, H.6
Hunter, K.7
Stanton, V.P.8
Thirion, J.-P.9
Hudson, T.10
Sohn, R.11
Zemelman, B.12
Snell, R.G.13
Rundle, S.A.14
Crow, S.15
Davies, J.16
Shelbourne, P.17
Buxton, J.18
Jones, C.19
Juvonen, V.20
Johnson, K.21
Harper, P.S.22
Shaw, D.J.23
Housman, D.E.24
more..
-
9
-
-
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., Leblond S., Earle-Macdonald J., de Jong P.J., Wieringa B., and Korneluk R.G. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255 (1992) 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
Leblond, S.11
Earle-Macdonald, J.12
de Jong, P.J.13
Wieringa, B.14
Korneluk, R.G.15
-
10
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
La Spada A.R., Wilson E.M., Lubahn D.B., Harding A.E., and Fischbeck K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352 (1991) 77-79
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
La Spada, A.R.1
Wilson, E.M.2
Lubahn, D.B.3
Harding, A.E.4
Fischbeck, K.H.5
-
11
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
-
Koide R., Ikeuchi T., Onodera O., Tanaka H., Igarashi S., Endo K., Takahashi H., Kondo R., Ishikawa A., Hayashi T., Saito M., Tomoda A., Miike T., Naito H., Ikuta F., and Tsuji S. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat. Genet. 6 (1994) 9-13
-
(1994)
Nat. Genet.
, vol.6
, pp. 9-13
-
-
Koide, R.1
Ikeuchi, T.2
Onodera, O.3
Tanaka, H.4
Igarashi, S.5
Endo, K.6
Takahashi, H.7
Kondo, R.8
Ishikawa, A.9
Hayashi, T.10
Saito, M.11
Tomoda, A.12
Miike, T.13
Naito, H.14
Ikuta, F.15
Tsuji, S.16
-
12
-
-
0027164698
-
Expansion of an unstable CAG repeat in spinocerebellar ataxia type 1
-
Orr H.T., Chung M.-Y., Banfi S., Kwiatkowski Jr. T.J., Servadio A., Beaudet A.L., McCall A.E., Duvick L.A., Ranum L.P.W., and Zoghbi H.Y. Expansion of an unstable CAG repeat in spinocerebellar ataxia type 1. Nat. Genet. 4 (1993) 221-226
-
(1993)
Nat. Genet.
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.-Y.2
Banfi, S.3
Kwiatkowski Jr., T.J.4
Servadio, A.5
Beaudet, A.L.6
McCall, A.E.7
Duvick, L.A.8
Ranum, L.P.W.9
Zoghbi, H.Y.10
-
13
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
Imbert G., Saudou F., Yvert G., Devys D., Trottier Y., Garnier J.M., Weber C., Mandel J.L., Cancel G., Abbas N., Durr A., Didierjean O., Stevanin G., Agid Y., and Brice A. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat. Genet. 14 (1996) 285-291
-
(1996)
Nat. Genet.
, vol.14
, pp. 285-291
-
-
Imbert, G.1
Saudou, F.2
Yvert, G.3
Devys, D.4
Trottier, Y.5
Garnier, J.M.6
Weber, C.7
Mandel, J.L.8
Cancel, G.9
Abbas, N.10
Durr, A.11
Didierjean, O.12
Stevanin, G.13
Agid, Y.14
Brice, A.15
-
14
-
-
16944364511
-
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
-
David G., Abbas N., Stevanin G., Dürr A., Yvert G., Cancel G., Weber C., Imbert G., Saudou F., Antoniou E., Drabkin H., Gemmill R., Giunti P., Benomar A., Wood N., Ruberg M., Agid Y., Mandel J.L., and Brice A. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat. Genet. 17 (1997) 65-70
-
(1997)
Nat. Genet.
, vol.17
, pp. 65-70
-
-
David, G.1
Abbas, N.2
Stevanin, G.3
Dürr, A.4
Yvert, G.5
Cancel, G.6
Weber, C.7
Imbert, G.8
Saudou, F.9
Antoniou, E.10
Drabkin, H.11
Gemmill, R.12
Giunti, P.13
Benomar, A.14
Wood, N.15
Ruberg, M.16
Agid, Y.17
Mandel, J.L.18
Brice, A.19
-
15
-
-
0032900772
-
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
-
Koob M.D., Moseley M.L., Schut L.J., Benzow K.A., Bird T.D., Day J.W., and Ranum L.P. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat. Genet. 21 (1999) 379-384
-
(1999)
Nat. Genet.
, vol.21
, pp. 379-384
-
-
Koob, M.D.1
Moseley, M.L.2
Schut, L.J.3
Benzow, K.A.4
Bird, T.D.5
Day, J.W.6
Ranum, L.P.7
-
16
-
-
0032727249
-
Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12
-
Holmes S.E., O'Hearn E.E., McInnis M.G., Gorelick-Feldman D.A., Kleiderlein J.J., Callahan C., Kwak N.G., Ingersoll-Ashworth R.G., Sherr M., Sumner A.J., Sharp A.H., Ananth U., Seltzer W.K., Boss M.A., Vieria-Saecker A.M., Epplen J.T., Riess O., Ross C.A., and Margolis R.L. Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12. Nat. Genet. 23 (1999) 391-392
-
(1999)
Nat. Genet.
, vol.23
, pp. 391-392
-
-
Holmes, S.E.1
O'Hearn, E.E.2
McInnis, M.G.3
Gorelick-Feldman, D.A.4
Kleiderlein, J.J.5
Callahan, C.6
Kwak, N.G.7
Ingersoll-Ashworth, R.G.8
Sherr, M.9
Sumner, A.J.10
Sharp, A.H.11
Ananth, U.12
Seltzer, W.K.13
Boss, M.A.14
Vieria-Saecker, A.M.15
Epplen, J.T.16
Riess, O.17
Ross, C.A.18
Margolis, R.L.19
-
17
-
-
0032885515
-
A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?
-
Koide R., Kobayashi S., Shimohata T., Ikeuchi T., Maruyama M., Saito M., Yamada M., Takahashi H., and Tsuji S. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?. Hum. Mol. Genet. 8 (1999) 2047-2053
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 2047-2053
-
-
Koide, R.1
Kobayashi, S.2
Shimohata, T.3
Ikeuchi, T.4
Maruyama, M.5
Saito, M.6
Yamada, M.7
Takahashi, H.8
Tsuji, S.9
-
18
-
-
0035393427
-
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
-
Nakamura K., Jeong S.Y., Uchihara T., Anno M., Nagashima K., Nagashima T., Ikeda S., Tsuji S., and Kanazawa I. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum. Mol. Genet. 10 (2001) 1441-1448
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1441-1448
-
-
Nakamura, K.1
Jeong, S.Y.2
Uchihara, T.3
Anno, M.4
Nagashima, K.5
Nagashima, T.6
Ikeda, S.7
Tsuji, S.8
Kanazawa, I.9
-
19
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y., Okamoto T., Taniwaki M., Aizawa M., Inoue M., Katayama S., Kawakami H., Nakamura S., Nishimura M., Akiguchi I., Kimura J., Narumiya S., and Kakizuka A. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat. Genet. 8 (1994) 221-227
-
(1994)
Nat. Genet.
, vol.8
, pp. 221-227
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
Aizawa, M.4
Inoue, M.5
Katayama, S.6
Kawakami, H.7
Nakamura, S.8
Nishimura, M.9
Akiguchi, I.10
Kimura, J.11
Narumiya, S.12
Kakizuka, A.13
-
20
-
-
0742323776
-
Mechanisms of cell death in polyglutamine expansion diseases
-
Lipinski M.M., and Yuan J. Mechanisms of cell death in polyglutamine expansion diseases. Curr. Opin. Pharmacol. 4 (2004) 85-90
-
(2004)
Curr. Opin. Pharmacol.
, vol.4
, pp. 85-90
-
-
Lipinski, M.M.1
Yuan, J.2
-
21
-
-
0034622926
-
Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
-
Mankodi A., Logigian E., Callahan L., McClain C., White R., Henderson D., Krym M., and Thornton C.A. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289 (2000) 1769-1773
-
(2000)
Science
, vol.289
, pp. 1769-1773
-
-
Mankodi, A.1
Logigian, E.2
Callahan, L.3
McClain, C.4
White, R.5
Henderson, D.6
Krym, M.7
Thornton, C.A.8
-
22
-
-
0030841672
-
Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts
-
Davis B.M., McCurrach M.E., Taneja K.L., Singer R.H., and Housman D.E. Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proc. Natl. Acad. Sci. U.S.A. 94 (1997) 7388-7393
-
(1997)
Proc. Natl. Acad. Sci. U.S.A.
, vol.94
, pp. 7388-7393
-
-
Davis, B.M.1
McCurrach, M.E.2
Taneja, K.L.3
Singer, R.H.4
Housman, D.E.5
-
23
-
-
0032076126
-
Disruption of splicing regulated by a CUG binding protein in myotonic dystrophy
-
Philips A.V., Timchenko L.T., and Cooper T.A. Disruption of splicing regulated by a CUG binding protein in myotonic dystrophy. Science 280 (1998) 737-741
-
(1998)
Science
, vol.280
, pp. 737-741
-
-
Philips, A.V.1
Timchenko, L.T.2
Cooper, T.A.3
-
24
-
-
15044354661
-
RNA pathogenesis of the myotonic dystrophies
-
Day J.W., and Ranum L.P. RNA pathogenesis of the myotonic dystrophies. Neuromuscul. Disord. 15 (2005) 5-16
-
(2005)
Neuromuscul. Disord.
, vol.15
, pp. 5-16
-
-
Day, J.W.1
Ranum, L.P.2
-
25
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman R.J., Leehey M., Heinrichs W., Tassone F., Wilson R., Hills J., Grigsby J., Gage B., and Hagerman P.J. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57 (2001) 127-130
-
(2001)
Neurology
, vol.57
, pp. 127-130
-
-
Hagerman, R.J.1
Leehey, M.2
Heinrichs, W.3
Tassone, F.4
Wilson, R.5
Hills, J.6
Grigsby, J.7
Gage, B.8
Hagerman, P.J.9
-
26
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile X syndrome
-
Pieretti M., Zhang F., Fu Y.-H., Warren S.T., Oostra B.A., Caskey C.T., and Nelson D.L. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66 (1991) 817-822
-
(1991)
Cell
, vol.66
, pp. 817-822
-
-
Pieretti, M.1
Zhang, F.2
Fu, Y.-H.3
Warren, S.T.4
Oostra, B.A.5
Caskey, C.T.6
Nelson, D.L.7
-
27
-
-
0034639857
-
Understanding the molecular basis of fragile X syndrome
-
Jin P., and Warren S.T. Understanding the molecular basis of fragile X syndrome. Hum. Mol. Genet. 9 (2000) 901-908
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 901-908
-
-
Jin, P.1
Warren, S.T.2
-
28
-
-
0031911365
-
The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat
-
Steinbach P., Glaser D., Vogel W., Wolf M., and Schwemmle S. The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat. Am. J. Hum. Genet. 62 (1998) 278-285
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 278-285
-
-
Steinbach, P.1
Glaser, D.2
Vogel, W.3
Wolf, M.4
Schwemmle, S.5
-
29
-
-
0030845879
-
Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP
-
Klesert T.R., Otten A.D., Bird T.D., and Tapscott S.J. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nat. Genet. 16 (1997) 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
-
30
-
-
0034019306
-
Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy
-
Klesert T.R., Cho D.H., Clark J.I., Maylie J., Adelman J., Snider L., Yuen E.C., Soriano P., and Tapscott S.J. Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Nat. Genet. 25 (2000) 105-109
-
(2000)
Nat. Genet.
, vol.25
, pp. 105-109
-
-
Klesert, T.R.1
Cho, D.H.2
Clark, J.I.3
Maylie, J.4
Adelman, J.5
Snider, L.6
Yuen, E.C.7
Soriano, P.8
Tapscott, S.J.9
-
31
-
-
0034103010
-
Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts
-
Sarkar P.S., Appukuttan B., Han J., Ito Y., Ai C., Tsai W., Chai Y., Stout J.T., and Reddy S. Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts. Nat. Genet. 25 (2000) 110-114
-
(2000)
Nat. Genet.
, vol.25
, pp. 110-114
-
-
Sarkar, P.S.1
Appukuttan, B.2
Han, J.3
Ito, Y.4
Ai, C.5
Tsai, W.6
Chai, Y.7
Stout, J.T.8
Reddy, S.9
-
32
-
-
8944235350
-
Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice
-
Jansen G., Groenen P.J.T.A., Bächner D., Jap P.H.K., Coerwinkel M., Oerlemans F., van den Broek W., Gohlsch B., Pette D., Plomp J.J., Molenaar P.C., Nederhoff M.G.J., van Echteld C.J.A., Dekker M., Berns A., Hameister H., and Wieringa B. Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nat. Genet. 13 (1996) 316-324
-
(1996)
Nat. Genet.
, vol.13
, pp. 316-324
-
-
Jansen, G.1
Groenen, P.J.T.A.2
Bächner, D.3
Jap, P.H.K.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.J.12
van Echteld, C.J.A.13
Dekker, M.14
Berns, A.15
Hameister, H.16
Wieringa, B.17
-
33
-
-
8944259903
-
Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy
-
Reddy S., Smith D.B.J., 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. Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nat. Genet. 13 (1996) 325-335
-
(1996)
Nat. Genet.
, vol.13
, pp. 325-335
-
-
Reddy, S.1
Smith, D.B.J.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
-
34
-
-
0033557293
-
DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model
-
Berul C.I., Maguire C.T., Aronovitz M.J., Greenwood J., Miller C., Gehrmann J., Housman D., Mendelsohn M.E., and Reddy S. DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model. J. Clin. Invest. 103 (1999) R1-R7
-
(1999)
J. Clin. Invest.
, vol.103
-
-
Berul, C.I.1
Maguire, C.T.2
Aronovitz, M.J.3
Greenwood, J.4
Miller, C.5
Gehrmann, J.6
Housman, D.7
Mendelsohn, M.E.8
Reddy, S.9
-
35
-
-
0033120042
-
Sticky DNA: self-association properties of long GAA·TTC repeats in R.R.Y triplex structures from Friedreich's ataxia
-
Sakamoto N., Chastain P.D., Parniewski P., Ohshima K., Pandolfo M., Griffith J.D., and Wells R.D. Sticky DNA: self-association properties of long GAA·TTC repeats in R.R.Y triplex structures from Friedreich's ataxia. Mol. Cell 3 (1999) 465-475
-
(1999)
Mol. Cell
, vol.3
, pp. 465-475
-
-
Sakamoto, N.1
Chastain, P.D.2
Parniewski, P.3
Ohshima, K.4
Pandolfo, M.5
Griffith, J.D.6
Wells, R.D.7
-
36
-
-
0035503214
-
SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia
-
Holmes S.E., Hearn E.O., Ross C.A., and Margolis R.L. SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia. Brain Res. Bull. 56 (2001) 397-403
-
(2001)
Brain Res. Bull.
, vol.56
, pp. 397-403
-
-
Holmes, S.E.1
Hearn, E.O.2
Ross, C.A.3
Margolis, R.L.4
-
38
-
-
17844394198
-
Recent progress in spinocerebellar ataxia type-10 (SCA10)
-
Lin X., and Ashizawa T. Recent progress in spinocerebellar ataxia type-10 (SCA10). Cerebellum 4 (2005) 37-42
-
(2005)
Cerebellum
, vol.4
, pp. 37-42
-
-
Lin, X.1
Ashizawa, T.2
-
39
-
-
0027982427
-
Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene
-
Zhang L., Leeflang E.P., Yu J., and Arnheim N. Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene. Nat. Genet. 7 (1994) 531-535
-
(1994)
Nat. Genet.
, vol.7
, pp. 531-535
-
-
Zhang, L.1
Leeflang, E.P.2
Yu, J.3
Arnheim, N.4
-
40
-
-
0032897901
-
Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism
-
Leeflang E.P., Tavaré S., Marjoram P., Neal C.O.S., Srinidhi J., MacDonald M.E., de Young M., Wexler N.S., Gusella J.F., and Arnheim N. Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism. Hum. Mol. Genet. 8 (1999) 173-183
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 173-183
-
-
Leeflang, E.P.1
Tavaré, S.2
Marjoram, P.3
Neal, C.O.S.4
Srinidhi, J.5
MacDonald, M.E.6
de Young, M.7
Wexler, N.S.8
Gusella, J.F.9
Arnheim, N.10
-
41
-
-
0028058252
-
Effects of 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. Effects of sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring. Neurology 44 (1994) 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
-
43
-
-
34347151261
-
Uber myotonische Dystrophie mit Katarakt. Albercht von Graefes
-
Fleischer B. Uber myotonische Dystrophie mit Katarakt. Albercht von Graefes. Arch. Klin. Ophthalmol. 96 (1918) 91-133
-
(1918)
Arch. Klin. Ophthalmol.
, vol.96
, pp. 91-133
-
-
Fleischer, B.1
-
44
-
-
0024390849
-
Anticipation in myotonic dystrophy: fact or fiction?
-
Howeler C.J., Busch H.F.M., Geraedts J.P.M., Neirmeijer M.F., and Staal A. Anticipation in myotonic dystrophy: fact or fiction?. Brain 112 (1989) 779-797
-
(1989)
Brain
, vol.112
, pp. 779-797
-
-
Howeler, C.J.1
Busch, H.F.M.2
Geraedts, J.P.M.3
Neirmeijer, M.F.4
Staal, A.5
-
45
-
-
0026799274
-
Anticipation in myotonic dystrophy. I. Statistical verification based on clinical and haplotype findings
-
Ashizawa T., Dunne C.J., Dubel J.R., Perryman M.B., Epstein H.F., Boerwinkle E., and Hejtmancik J.F. Anticipation in myotonic dystrophy. I. Statistical verification based on clinical and haplotype findings. Neurology 42 (1992) 1871-1877
-
(1992)
Neurology
, vol.42
, pp. 1871-1877
-
-
Ashizawa, T.1
Dunne, C.J.2
Dubel, J.R.3
Perryman, M.B.4
Epstein, H.F.5
Boerwinkle, E.6
Hejtmancik, J.F.7
-
46
-
-
0028353818
-
Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I
-
Benomar A., Le Guern E., Durr A., Ouhabi H., Stevanin G., Yahyaoui M., Chkili T., Agid Y., and Brice A. Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I. Ann. Neurol. 35 (1994) 439-444
-
(1994)
Ann. Neurol.
, vol.35
, pp. 439-444
-
-
Benomar, A.1
Le Guern, E.2
Durr, A.3
Ouhabi, H.4
Stevanin, G.5
Yahyaoui, M.6
Chkili, T.7
Agid, Y.8
Brice, A.9
-
47
-
-
6844254538
-
Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)
-
David G., Dürr A., Stevanin G., Cancel G., Abbas N., Benomar A., Belal S., Lebre A.S., Abada-Bendib M., Grid D., Holmberg M., Yahyaoui M., Hentati F., Chkili T., Agid Y., and Brice A. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum. Mol. Genet. 7 (1998) 165-170
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 165-170
-
-
David, G.1
Dürr, A.2
Stevanin, G.3
Cancel, G.4
Abbas, N.5
Benomar, A.6
Belal, S.7
Lebre, A.S.8
Abada-Bendib, M.9
Grid, D.10
Holmberg, M.11
Yahyaoui, M.12
Hentati, F.13
Chkili, T.14
Agid, Y.15
Brice, A.16
-
48
-
-
0031714729
-
Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype
-
Benton C.S., de Silva R., Rutledge S.L., Bohlega S., Ashizawa T., and Zoghbi H.Y. Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Neurology 51 (1998) 1081-1086
-
(1998)
Neurology
, vol.51
, pp. 1081-1086
-
-
Benton, C.S.1
de Silva, R.2
Rutledge, S.L.3
Bohlega, S.4
Ashizawa, T.5
Zoghbi, H.Y.6
-
49
-
-
0029068699
-
Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy
-
Lopez de Munain A., Cobo A.M., Poza J.J., Navarrete D., Martorell L., Palau F., Emparanza J.I., and Baiget M. Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy. J. Med. Genet. 32 (1995) 689-691
-
(1995)
J. Med. Genet.
, vol.32
, pp. 689-691
-
-
Lopez de Munain, A.1
Cobo, A.M.2
Poza, J.J.3
Navarrete, D.4
Martorell, L.5
Palau, F.6
Emparanza, J.I.7
Baiget, M.8
-
50
-
-
6844252925
-
Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission
-
Gouw L.G., Castañeda M.A., McKenna C.K., Digre K.B., Pulst S.M., Perlman S., Lee M.S., Gomez C., Fischbeck K., Gagnon D., Storey E., Bird T., Jeri F.R., and Ptácek L.J. Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. Hum. Mol. Genet. 7 (1998) 525-532
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 525-532
-
-
Gouw, L.G.1
Castañeda, M.A.2
McKenna, C.K.3
Digre, K.B.4
Pulst, S.M.5
Perlman, S.6
Lee, M.S.7
Gomez, C.8
Fischbeck, K.9
Gagnon, D.10
Storey, E.11
Bird, T.12
Jeri, F.R.13
Ptácek, L.J.14
-
51
-
-
0029075558
-
Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes
-
Kremer B., Almqvist E., Theilmann J., Spence N., Telenius H., Goldberg Y.P., and Hayden M.R. Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. Am. J. Hum. Genet. 57 (1995) 343-350
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 343-350
-
-
Kremer, B.1
Almqvist, E.2
Theilmann, J.3
Spence, N.4
Telenius, H.5
Goldberg, Y.P.6
Hayden, M.R.7
-
52
-
-
0028938117
-
Spinocerebellar ataxia 1 (SCA1) in the Japanese: analysis of CAG trinucleotide repeat expansion and instability of the repeat for paternal transmission
-
Suzuki Y., Sasaki H., Wakisaka A., Takada A., Yoshiki T., Iwabuchi K., Tashiro K., Fukazawa T., and Hamada T. Spinocerebellar ataxia 1 (SCA1) in the Japanese: analysis of CAG trinucleotide repeat expansion and instability of the repeat for paternal transmission. Jpn. J. Hum. Genet. 40 (1995) 131-143
-
(1995)
Jpn. J. Hum. Genet.
, vol.40
, pp. 131-143
-
-
Suzuki, Y.1
Sasaki, H.2
Wakisaka, A.3
Takada, A.4
Yoshiki, T.5
Iwabuchi, K.6
Tashiro, K.7
Fukazawa, T.8
Hamada, T.9
-
53
-
-
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 C.J., Hoppe R.L.E., de Die C.E.M., Howeler C.J., van Oost B.A., Wieringa B., Ropers H.H., and Smeets H.J.M. 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 (1993) 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, C.J.5
Hoppe, R.L.E.6
de Die, C.E.M.7
Howeler, C.J.8
van Oost, B.A.9
Wieringa, B.10
Ropers, H.H.11
Smeets, H.J.M.12
-
54
-
-
0031816520
-
Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene
-
Delatycki M.B., Paris D., Gardner R.J., Forshaw K., Nicholson G.A., Nassif N., Williamson R., and Forrest S.M. Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene. J. Med. Genet. 35 (1998) 713-716
-
(1998)
J. Med. Genet.
, vol.35
, pp. 713-716
-
-
Delatycki, M.B.1
Paris, D.2
Gardner, R.J.3
Forshaw, K.4
Nicholson, G.A.5
Nassif, N.6
Williamson, R.7
Forrest, S.M.8
-
55
-
-
0031739916
-
Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia
-
De Michele G., Cavalcanti F., Criscuolo C., Pianese L., Monticelli A., Filla A., and Cocozza S. Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia. Hum. Mol. Genet. 7 (1998) 1901-1906
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1901-1906
-
-
De Michele, G.1
Cavalcanti, F.2
Criscuolo, C.3
Pianese, L.4
Monticelli, A.5
Filla, A.6
Cocozza, S.7
-
56
-
-
0028355538
-
Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n 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. Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n variation and selection against extreme expansion in sperm. Am. J. Hum. Genet. 54 (1994) 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
-
57
-
-
0031045874
-
Characterization of the full fragile X syndrome mutation in fetal gametes
-
Malter H.E., Iber J.C., Willemsen R., de Graaff E., Tarleton J.C., Leisti J., Warren S.T., and Oostra B.A. Characterization of the full fragile X syndrome mutation in fetal gametes. Nat. Genet. 15 (1997) 165-169
-
(1997)
Nat. Genet.
, vol.15
, pp. 165-169
-
-
Malter, H.E.1
Iber, J.C.2
Willemsen, R.3
de Graaff, E.4
Tarleton, J.C.5
Leisti, J.6
Warren, S.T.7
Oostra, B.A.8
-
58
-
-
0842347339
-
Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects
-
Martorell L., Gamez J., Cayuela M.L., Gould F.K., McAbney J.P., Ashizawa T., Monckton D.G., and Baiget M. Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects. Neurology 62 (2004) 269-274
-
(2004)
Neurology
, vol.62
, pp. 269-274
-
-
Martorell, L.1
Gamez, J.2
Cayuela, M.L.3
Gould, F.K.4
McAbney, J.P.5
Ashizawa, T.6
Monckton, D.G.7
Baiget, M.8
-
59
-
-
0031054076
-
Hypermutable myotonic dystrophy CTG repeats in transgenic mice
-
Monckton D.G., Coolbaugh M.I., Ashizawa K., Siciliano M.J., and Caskey C.T. Hypermutable myotonic dystrophy CTG repeats in transgenic mice. Nat. Genet. 15 (1997) 193-196
-
(1997)
Nat. Genet.
, vol.15
, pp. 193-196
-
-
Monckton, D.G.1
Coolbaugh, M.I.2
Ashizawa, K.3
Siciliano, M.J.4
Caskey, C.T.5
-
60
-
-
0032949459
-
A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice
-
Shelbourne P.F., Killeen N., Hevner R.F., Johnston H.M., Tecott L., Lewandoski M., Ennis M., Ramirez L., Li Z., Iannicola C., Littman D.R., and Myers R.M. A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice. Hum. Mol. Genet. 8 (1999) 763-774
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 763-774
-
-
Shelbourne, P.F.1
Killeen, N.2
Hevner, R.F.3
Johnston, H.M.4
Tecott, L.5
Lewandoski, M.6
Ennis, M.7
Ramirez, L.8
Li, Z.9
Iannicola, C.10
Littman, D.R.11
Myers, R.M.12
-
61
-
-
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., Shimohata T., Koide R., Ikeuchi T., Tanaka H., Futamura N., Matsumura R., Takayanagi T., Tanaka F., Sobue G., Komure O., Takahashi M., Sano A., Ichikawa Y., Goto J., Kanazawa I., et al. 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 (1999) 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
Shimohata, T.11
Koide, R.12
Ikeuchi, T.13
Tanaka, H.14
Futamura, N.15
Matsumura, R.16
Takayanagi, T.17
Tanaka, F.18
Sobue, G.19
Komure, O.20
Takahashi, M.21
Sano, A.22
Ichikawa, Y.23
Goto, J.24
Kanazawa, I.25
more..
-
62
-
-
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., Trask B.J., Fischbeck K.H., Clegg C.H., and McKnight G.S. Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability. Hum. Mol. Genet. 7 (1998) 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
Trask, B.J.11
Fischbeck, K.H.12
Clegg, C.H.13
McKnight, G.S.14
-
63
-
-
0034701278
-
Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus
-
Lorenzetti D., Watase K., Xu B., Matzuk M.M., Orr H.T., and Zoghbi H.Y. Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus. Hum. Mol. Genet. 9 (2000) 779-785
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 779-785
-
-
Lorenzetti, D.1
Watase, K.2
Xu, B.3
Matzuk, M.M.4
Orr, H.T.5
Zoghbi, H.Y.6
-
64
-
-
0026339303
-
Instability of a 550 base-pair DNA segment and abnormal methylation in fragile X syndrome
-
Oberle I., Rousseau F., Heitz D., Kretz C., Devys D., Hanauer A., Boue J., Bertheas M.F., and Mandel J.L. Instability of a 550 base-pair DNA segment and abnormal methylation in fragile X syndrome. Science 252 (1991) 1097-1102
-
(1991)
Science
, vol.252
, pp. 1097-1102
-
-
Oberle, I.1
Rousseau, F.2
Heitz, D.3
Kretz, C.4
Devys, D.5
Hanauer, A.6
Boue, J.7
Bertheas, M.F.8
Mandel, J.L.9
-
65
-
-
0026584805
-
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
-
Buxton J., Shelbourne P., Davies J., Jones C., Tongeren T.V., Aslanidis C., de Jong P., Jansen G., Anvret M., Riley B., Williamson B., and Johnson K. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355 (1992) 547-548
-
(1992)
Nature
, vol.355
, pp. 547-548
-
-
Buxton, J.1
Shelbourne, P.2
Davies, J.3
Jones, C.4
Tongeren, T.V.5
Aslanidis, C.6
de Jong, P.7
Jansen, G.8
Anvret, M.9
Riley, B.10
Williamson, B.11
Johnson, K.12
-
66
-
-
0027310525
-
Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion
-
Wohrle D., Hennig I., Vogel W., and Steinbach P. Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion. Nat. Genet. 4 (1993) 140-142
-
(1993)
Nat. Genet.
, vol.4
, pp. 140-142
-
-
Wohrle, D.1
Hennig, I.2
Vogel, W.3
Steinbach, P.4
-
67
-
-
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. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum. Mol. Genet. 4 (1995) 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
-
68
-
-
0028339385
-
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
-
Telenius H., Kremer B., Goldberg Y.P., Theilmann J., Andrew S.E., Zeisler J., Adam S., Greenberg C., Ives E.J., Clarke L.A., and Hayden M.R. Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nat. Genet. 6 (1994) 409-414
-
(1994)
Nat. Genet.
, vol.6
, pp. 409-414
-
-
Telenius, H.1
Kremer, B.2
Goldberg, Y.P.3
Theilmann, J.4
Andrew, S.E.5
Zeisler, J.6
Adam, S.7
Greenberg, C.8
Ives, E.J.9
Clarke, L.A.10
Hayden, M.R.11
-
69
-
-
0346752132
-
Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis
-
Kennedy L., Evans E., Chen C.M., Craven L., Detloff P.J., Ennis M., and Shelbourne P.F. Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis. Hum. Mol. Genet. 12 (2003) 3359-3367
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 3359-3367
-
-
Kennedy, L.1
Evans, E.2
Chen, C.M.3
Craven, L.4
Detloff, P.J.5
Ennis, M.6
Shelbourne, P.F.7
-
70
-
-
0029035710
-
Gametic and somatic tissue specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1
-
Chong S.S., McCall A.E., Cota J., Subramony S.H., Orr H.T., Hughes M.R., and Zoghbi H.Y. Gametic and somatic tissue specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nat. Genet. 10 (1995) 344-350
-
(1995)
Nat. Genet.
, vol.10
, pp. 344-350
-
-
Chong, S.S.1
McCall, A.E.2
Cota, J.3
Subramony, S.H.4
Orr, H.T.5
Hughes, M.R.6
Zoghbi, H.Y.7
-
71
-
-
0033109233
-
Somatic mosaicism of expanded CAG trinucleotide repeat in the neural and nonneural tissues of Machado-Joseph disease (MJD)
-
Tanaka F., Ito Y., and Sobue G. Somatic mosaicism of expanded CAG trinucleotide repeat in the neural and nonneural tissues of Machado-Joseph disease (MJD). Nippon Rinsho 57 (1999) 838-842
-
(1999)
Nippon Rinsho
, vol.57
, pp. 838-842
-
-
Tanaka, F.1
Ito, Y.2
Sobue, G.3
-
73
-
-
0029988921
-
Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability
-
Takano H., Onodera O., Takahashi H., Igarashi S., Yamada M., Oyake M., Ikeuchi T., Koide R., Tanaka H., Iwabuchi K., and Tsuji S. Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability. Am. J. Hum. Genet. 58 (1996) 1212-1222
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 1212-1222
-
-
Takano, H.1
Onodera, O.2
Takahashi, H.3
Igarashi, S.4
Yamada, M.5
Oyake, M.6
Ikeuchi, T.7
Koide, R.8
Tanaka, H.9
Iwabuchi, K.10
Tsuji, S.11
-
74
-
-
0033358560
-
Tissue specific somatic mosaicism in spinal and bulbar muscular atrophy is dependent on CAG repeat length and androgen receptor gene expression level
-
Tanaka F., Reeves M.F., Ito Y., Matsumoto M., Li M., Miwa S., Inukai A., Yamamoto M., Doyu M., Yoshida M., Hashizume Y., Terao S., Mitsuma T., and Sobue G. Tissue specific somatic mosaicism in spinal and bulbar muscular atrophy is dependent on CAG repeat length and androgen receptor gene expression level. Am. J. Hum. Genet. 65 (1999) 966-973
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 966-973
-
-
Tanaka, F.1
Reeves, M.F.2
Ito, Y.3
Matsumoto, M.4
Li, M.5
Miwa, S.6
Inukai, A.7
Yamamoto, M.8
Doyu, M.9
Yoshida, M.10
Hashizume, Y.11
Terao, S.12
Mitsuma, T.13
Sobue, G.14
-
75
-
-
0037465516
-
Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum
-
Day J.W., Ricker K., Jacobsen J.F., Rasmussen L.J., Dick K.A., Kress W., Schneider C., Koch M.C., Beilman G.J., Harrison A.R., Dalton J.C., and Ranum L.P. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 60 (2003) 657-664
-
(2003)
Neurology
, vol.60
, pp. 657-664
-
-
Day, J.W.1
Ricker, K.2
Jacobsen, J.F.3
Rasmussen, L.J.4
Dick, K.A.5
Kress, W.6
Schneider, C.7
Koch, M.C.8
Beilman, G.J.9
Harrison, A.R.10
Dalton, J.C.11
Ranum, L.P.12
-
76
-
-
2442687762
-
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10
-
Matsuura T., Fang P., Lin X., Khajavi M., Tsuji K., Rasmussen A., Grewal R.P., Achari M., Alonso M.E., Pulst S.M., Zoghbi H.Y., Nelson D.L., Roa B.B., and Ashizawa T. Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am. J. Med. Genet. 74 (2004) 1216-1224
-
(2004)
Am. J. Med. Genet.
, vol.74
, pp. 1216-1224
-
-
Matsuura, T.1
Fang, P.2
Lin, X.3
Khajavi, M.4
Tsuji, K.5
Rasmussen, A.6
Grewal, R.P.7
Achari, M.8
Alonso, M.E.9
Pulst, S.M.10
Zoghbi, H.Y.11
Nelson, D.L.12
Roa, B.B.13
Ashizawa, T.14
-
77
-
-
0026572250
-
Genotype mosaicism in fragile X fetal tissues
-
Wohrle D., Hirst M.C., Kennerknecht I., Davies K.E., and Steinbach P. Genotype mosaicism in fragile X fetal tissues. Hum. Genet. 89 (1992) 114-116
-
(1992)
Hum. Genet.
, vol.89
, pp. 114-116
-
-
Wohrle, D.1
Hirst, M.C.2
Kennerknecht, I.3
Davies, K.E.4
Steinbach, P.5
-
78
-
-
0030015140
-
Tissue differences in fragile X mosaics: mosaicism in blood cells may differ greatly from skin
-
Dobkin C.S., Nolin S.L., Cohen I., Sudhalter V., Bialer M.G., Ding X.H., Jenkins E.C., Zhong N., and Brown W.T. Tissue differences in fragile X mosaics: mosaicism in blood cells may differ greatly from skin. Am. J. Med. Genet. 64 (1996) 296-301
-
(1996)
Am. J. Med. Genet.
, vol.64
, pp. 296-301
-
-
Dobkin, C.S.1
Nolin, S.L.2
Cohen, I.3
Sudhalter, V.4
Bialer, M.G.5
Ding, X.H.6
Jenkins, E.C.7
Zhong, N.8
Brown, W.T.9
-
79
-
-
0030815628
-
Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system
-
Montermini L., Kish S.J., Jiralerspong S., Lamarche J.B., and Pandolfo M. Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system. Neurology 49 (1997) 606-610
-
(1997)
Neurology
, vol.49
, pp. 606-610
-
-
Montermini, L.1
Kish, S.J.2
Jiralerspong, S.3
Lamarche, J.B.4
Pandolfo, M.5
-
80
-
-
0035135490
-
Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes
-
Hellenbroich Y., Schwinger E., and Zuhlke C. Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes. Acta Neurol. Scand. 103 (2001) 188-192
-
(2001)
Acta Neurol. Scand.
, vol.103
, pp. 188-192
-
-
Hellenbroich, Y.1
Schwinger, E.2
Zuhlke, C.3
-
81
-
-
0036713922
-
The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions
-
Sharma R., Bhatti S., Gomez M., Clark R.M., Murray C., Ashizawa T., and Bidichandani S.I. The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions. Hum. Mol. Genet. 11 (2002) 2175-2187
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 2175-2187
-
-
Sharma, R.1
Bhatti, S.2
Gomez, M.3
Clark, R.M.4
Murray, C.5
Ashizawa, T.6
Bidichandani, S.I.7
-
82
-
-
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. Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. Am. J. Hum. Genet. 52 (1993) 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
-
83
-
-
0026939635
-
Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype
-
Shelbourne P., Winquist R., Kunert E., Davies J., Leisti J., Thiele H., Bachmann H., Buxton J., Williamson B., and Johnson K. Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype. Hum. Mol. Genet. 1 (1992) 467-473
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 467-473
-
-
Shelbourne, P.1
Winquist, R.2
Kunert, E.3
Davies, J.4
Leisti, J.5
Thiele, H.6
Bachmann, H.7
Buxton, J.8
Williamson, B.9
Johnson, K.10
-
85
-
-
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. Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am. J. Hum. Genet. 56 (1995) 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
-
86
-
-
0031984489
-
Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients
-
Martorell L., Monckton D.G., Gamez J., Johnson K.J., Gich I., Lopez de Munain A., and Baiget M. Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients. Hum. Mol. Genet. 7 (1998) 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 Munain, A.6
Baiget, M.7
-
87
-
-
0027716510
-
Somatic instability of CTG repeat in myotonic dystrophy
-
Ashizawa T., Dubel J.R., and Harati Y. Somatic instability of CTG repeat in myotonic dystrophy. Neurology 43 (1993) 2674-2678
-
(1993)
Neurology
, vol.43
, pp. 2674-2678
-
-
Ashizawa, T.1
Dubel, J.R.2
Harati, Y.3
-
88
-
-
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. Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum. Mol. Genet. 2 (1993) 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
-
89
-
-
0027957470
-
Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
-
Thornton C.A., Johnson K.J., and Moxley R.T. Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann. Neurol. 35 (1994) 104-107
-
(1994)
Ann. Neurol.
, vol.35
, pp. 104-107
-
-
Thornton, C.A.1
Johnson, K.J.2
Moxley, R.T.3
-
90
-
-
0028912550
-
Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?
-
Zatz M., Passos-Bueno M.R., Cerqueira A., Marie S.K., Vainzof M., and Pavanello R.C.M. Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?. Hum. Mol. Genet. 4 (1995) 401-406
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 401-406
-
-
Zatz, M.1
Passos-Bueno, M.R.2
Cerqueira, A.3
Marie, S.K.4
Vainzof, M.5
Pavanello, R.C.M.6
-
91
-
-
0028829596
-
CAG expansion affects the expression of mutant Huntingtin in the Huntington's disease brain
-
Aronin N., Chase K., Young C., Sapp E., Schwarz C., Matta N., Kornreich R., Landwehrmeyer B., Bird E., Beal M.F., et al. CAG expansion affects the expression of mutant Huntingtin in the Huntington's disease brain. Neuron 15 (1995) 1193-1201
-
(1995)
Neuron
, vol.15
, pp. 1193-1201
-
-
Aronin, N.1
Chase, K.2
Young, C.3
Sapp, E.4
Schwarz, C.5
Matta, N.6
Kornreich, R.7
Landwehrmeyer, B.8
Bird, E.9
Beal, M.F.10
-
92
-
-
0034625562
-
The expanded CAG repeat associated with juvenile Huntington disease shows a common origin of most or all neurons and glia in human cerebrum
-
Kahlem P., and Djian P. The expanded CAG repeat associated with juvenile Huntington disease shows a common origin of most or all neurons and glia in human cerebrum. Neurosci. Lett. 286 (2000) 203-207
-
(2000)
Neurosci. Lett.
, vol.286
, pp. 203-207
-
-
Kahlem, P.1
Djian, P.2
-
94
-
-
0035311419
-
"Mitotic drive" of expanded CTG repeats in myotonic dystrophy type 1 (DM1)
-
Khajavi M., Tari A.M., Patel N.B., Tsuji K., Siwak D.R., Meistrich M.L., Terry N.H., and Ashizawa T. "Mitotic drive" of expanded CTG repeats in myotonic dystrophy type 1 (DM1). Hum. Mol. Genet. 10 (2001) 855-863
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 855-863
-
-
Khajavi, M.1
Tari, A.M.2
Patel, N.B.3
Tsuji, K.4
Siwak, D.R.5
Meistrich, M.L.6
Terry, N.H.7
Ashizawa, T.8
-
95
-
-
0242607211
-
Replication inhibitors modulate instability of an expanded trinucleotide repeat at the myotonic dystrophy type 1 disease locus in human cells
-
Yang Z., Lau R., Marcadier J.L., Chitayat D., and Pearson C.E. Replication inhibitors modulate instability of an expanded trinucleotide repeat at the myotonic dystrophy type 1 disease locus in human cells. Am. J. Hum. Genet. 73 (2003) 1092-1105
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 1092-1105
-
-
Yang, Z.1
Lau, R.2
Marcadier, J.L.3
Chitayat, D.4
Pearson, C.E.5
-
96
-
-
0029035379
-
Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in Escherichia coli
-
Kang S., Jaworski A., Ohshima K., and Wells R.D. Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in Escherichia coli. Nat. Genet. 10 (1995) 213-218
-
(1995)
Nat. Genet.
, vol.10
, pp. 213-218
-
-
Kang, S.1
Jaworski, A.2
Ohshima, K.3
Wells, R.D.4
-
97
-
-
0030895078
-
Stability of a CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome
-
Freudenreich C.H., Stavenhagen J.B., and Zakian V.A. Stability of a CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome. Mol. Cell. Biol. 17 (1997) 2090-2098
-
(1997)
Mol. Cell. Biol.
, vol.17
, pp. 2090-2098
-
-
Freudenreich, C.H.1
Stavenhagen, J.B.2
Zakian, V.A.3
-
98
-
-
0032514711
-
Orientation-dependent and sequence-specific expansions of CTG/CAG trinucleotide repeats in Saccharomyces cerevisiae
-
Miret J.J., Pessoa-Brandao L., and Lahue R.S. Orientation-dependent and sequence-specific expansions of CTG/CAG trinucleotide repeats in Saccharomyces cerevisiae. Proc. Natl Acad. Sci. U.S.A. 95 (1998) 12438-12443
-
(1998)
Proc. Natl Acad. Sci. U.S.A.
, vol.95
, pp. 12438-12443
-
-
Miret, J.J.1
Pessoa-Brandao, L.2
Lahue, R.S.3
-
99
-
-
0030789980
-
Transcription increases the deletion frequency of long CTG/CAG triplet repeats from plasmids in Escherichia coli
-
Bowater R.P., Jaworski A., Larson J.E., Parniewski P., and Wells R.D. Transcription increases the deletion frequency of long CTG/CAG triplet repeats from plasmids in Escherichia coli. Nucl. Acids Res. 25 (1997) 2861-2868
-
(1997)
Nucl. Acids Res.
, vol.25
, pp. 2861-2868
-
-
Bowater, R.P.1
Jaworski, A.2
Larson, J.E.3
Parniewski, P.4
Wells, R.D.5
-
100
-
-
0033955771
-
Two opposing effects of mismatch repair on CTG repeat instability in Escherichia coli
-
Schmidt K.H., Abbott C.M., and Leach D.R. Two opposing effects of mismatch repair on CTG repeat instability in Escherichia coli. Mol. Microbiol. 35 (2000) 463-471
-
(2000)
Mol. Microbiol.
, vol.35
, pp. 463-471
-
-
Schmidt, K.H.1
Abbott, C.M.2
Leach, D.R.3
-
101
-
-
0034674058
-
Length of CTG·CAG repeats determines the influence of mismatch repair on genetic instability
-
Parniewski P., Jaworski A., Wells R.D., and Bowater R.P. Length of CTG·CAG repeats determines the influence of mismatch repair on genetic instability. J. Mol. Biol. 299 (2000) 865-874
-
(2000)
J. Mol. Biol.
, vol.299
, pp. 865-874
-
-
Parniewski, P.1
Jaworski, A.2
Wells, R.D.3
Bowater, R.P.4
-
102
-
-
0028788635
-
(n) triplet repeats from human hereditary diseases
-
(n) triplet repeats from human hereditary diseases. Proc. Natl Acad. Sci. U.S.A. 92 (1995) 11019-11023
-
(1995)
Proc. Natl Acad. Sci. U.S.A.
, vol.92
, pp. 11019-11023
-
-
Jaworski, A.1
Rosche, W.A.2
Gellibolian, R.3
Kang, S.M.4
Shimizu, M.5
Bowater, R.P.6
Sinden, R.R.7
Wells, R.D.8
-
103
-
-
0031057683
-
Destabilization of CAG trinucleotide repeat tracts by mismatch repair mutations in yeast
-
Schweitzer J.K., and Livingston D.M. Destabilization of CAG trinucleotide repeat tracts by mismatch repair mutations in yeast. Hum. Mol. Genet. 6 (1997) 349-355
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 349-355
-
-
Schweitzer, J.K.1
Livingston, D.M.2
-
104
-
-
0034194141
-
Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability
-
Seznec H., Lia-Baldini A.S., Duros C., Fouquet C., Lacroix C., Hofmann-Radvanyi H., Junien C., and Gourdon G. Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability. Hum. Mol. Genet. 9 (2000) 1185-1194
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1185-1194
-
-
Seznec, H.1
Lia-Baldini, A.S.2
Duros, C.3
Fouquet, C.4
Lacroix, C.5
Hofmann-Radvanyi, H.6
Junien, C.7
Gourdon, G.8
-
105
-
-
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. Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation. Nat. Genet. 15 (1997) 197-200
-
(1997)
Nat. 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
-
106
-
-
0031038809
-
Moderate intergenerational and somatic instability of a 55 CTG repeat in transgenic mice
-
Gourdon G., Radvanyi F., Lia A.S., Duros C., Blanche M., Abitbol M., Junien C., and Hofmann Radvanyi H. Moderate intergenerational and somatic instability of a 55 CTG repeat in transgenic mice. Nat. Genet. 15 (1997) 190-192
-
(1997)
Nat. 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
-
107
-
-
12244311838
-
Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice
-
Libby R.T., Monckton D.G., Fu Y.H., Martinez R.A., McAbney J.P., Lau R., Einum D.D., Nichol K., Ware C.B., Ptacek L.J., Pearson C.E., and La Spada A.R. Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice. Hum. Mol. Genet. 12 (2003) 41-50
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 41-50
-
-
Libby, R.T.1
Monckton, D.G.2
Fu, Y.H.3
Martinez, R.A.4
McAbney, J.P.5
Lau, R.6
Einum, D.D.7
Nichol, K.8
Ware, C.B.9
Ptacek, L.J.10
Pearson, C.E.11
La Spada, A.R.12
-
109
-
-
0032938295
-
Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in 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., Joyner A.L., and MacDonald M.E. Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse. Hum. Mol. Genet. 8 (1999) 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
Joyner, A.L.11
MacDonald, M.E.12
-
110
-
-
0035882460
-
Age-dependent and tissue-specific CAG repeat instability occurs in mouse knock-in for a mutant Huntington's disease gene
-
Ishiguro H., Yamada K., Sawada H., Nishii K., Ichino N., Sawada M., Kurosawa Y., Matsushita N., Kobayashi K., Goto J., Hashida H., Masuda N., Kanazawa I., and Nagatsu T. Age-dependent and tissue-specific CAG repeat instability occurs in mouse knock-in for a mutant Huntington's disease gene. J. Neurosci. Res. 65 (2001) 289-297
-
(2001)
J. Neurosci. Res.
, vol.65
, pp. 289-297
-
-
Ishiguro, H.1
Yamada, K.2
Sawada, H.3
Nishii, K.4
Ichino, N.5
Sawada, M.6
Kurosawa, Y.7
Matsushita, N.8
Kobayashi, K.9
Goto, J.10
Hashida, H.11
Masuda, N.12
Kanazawa, I.13
Nagatsu, T.14
-
111
-
-
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. Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability. Hum. Mol. Genet. 9 (2000) 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
-
112
-
-
0034641887
-
Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?
-
Kennedy L., and Shelbourne P.F. Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?. Hum. Mol. Genet. 9 (2000) 2539-2544
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2539-2544
-
-
Kennedy, L.1
Shelbourne, P.F.2
-
113
-
-
0242524440
-
Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1
-
Watase K., Venken K.J., Sun Y., Orr H.T., and Zoghbi H.Y. Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1. Hum. Mol. Genet. 12 (2003) 2789-2795
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2789-2795
-
-
Watase, K.1
Venken, K.J.2
Sun, Y.3
Orr, H.T.4
Zoghbi, H.Y.5
-
114
-
-
0035423079
-
Instability of a (CGG)98 repeat in the Fmr1 promoter
-
Bontekoe C.J., Bakker C.E., Nieuwenhuizen I.M., van der Linde H., Lans H., de Lange D., Hirst M.C., and Oostra B.A. Instability of a (CGG)98 repeat in the Fmr1 promoter. Hum. Mol. Genet. 10 (2001) 1693-1699
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1693-1699
-
-
Bontekoe, C.J.1
Bakker, C.E.2
Nieuwenhuizen, I.M.3
van der Linde, H.4
Lans, H.5
de Lange, D.6
Hirst, M.C.7
Oostra, B.A.8
-
115
-
-
3042654716
-
GAA repeat instability in Friedreich ataxia YAC transgenic mice
-
Al-Mahdawi S., Pinto R.M., Ruddle P., Carroll C., Webster Z., and Pook M. GAA repeat instability in Friedreich ataxia YAC transgenic mice. Genomics 84 (2004) 301-310
-
(2004)
Genomics
, vol.84
, pp. 301-310
-
-
Al-Mahdawi, S.1
Pinto, R.M.2
Ruddle, P.3
Carroll, C.4
Webster, Z.5
Pook, M.6
-
116
-
-
0031827446
-
Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities
-
Lia A.S., Seznec H., Hofmann-Radvanyi H., Radvanyi F., Duros C., Saquet C., Blanche M., Junien C., and Gourdon G. Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities. Hum. Mol. Genet. 7 (1998) 1285-1291
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1285-1291
-
-
Lia, A.S.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
-
117
-
-
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. Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nat. Genet. 23 (1999) 471-473
-
(1999)
Nat. Genet.
, vol.23
, pp. 471-473
-
-
Manley, K.1
Shirley, T.L.2
Flaherty, L.3
Messer, A.4
-
118
-
-
0037543991
-
CTG repeat instability and size variation timing in DNA repair-deficient mice
-
Savouret C., Brisson E., Essers J., Kanaar R., Pastink A., te Riele H., Junien C., and Gourdon G. CTG repeat instability and size variation timing in DNA repair-deficient mice. EMBO J. 22 (2003) 2264-2273
-
(2003)
EMBO J.
, vol.22
, pp. 2264-2273
-
-
Savouret, C.1
Brisson, E.2
Essers, J.3
Kanaar, R.4
Pastink, A.5
te Riele, H.6
Junien, C.7
Gourdon, G.8
-
119
-
-
4444323468
-
Pms2 is a genetic enhancer of trinucleotide CAG·CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion
-
Gomes-Pereira M., Fortune M.T., Ingram L., McAbney J.P., and Monckton D.G. Pms2 is a genetic enhancer of trinucleotide CAG·CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion. Hum. Mol. Genet. 13 (2004) 1815-1825
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 1815-1825
-
-
Gomes-Pereira, M.1
Fortune, M.T.2
Ingram, L.3
McAbney, J.P.4
Monckton, D.G.5
-
120
-
-
25844468819
-
(CAG)(n)-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition
-
Owen B.A., Yang Z., Lai M., Gajek M., Badger II J.D., Hayes J.J., Edelmann W., Kucherlapati R., Wilson T.M., and McMurray C.T. (CAG)(n)-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition. Nat. Struct. Mol. Biol. 12 (2005) 663-670
-
(2005)
Nat. Struct. Mol. Biol.
, vol.12
, pp. 663-670
-
-
Owen, B.A.1
Yang, Z.2
Lai, M.3
Gajek, M.4
Badger II, J.D.5
Hayes, J.J.6
Edelmann, W.7
Kucherlapati, R.8
Wilson, T.M.9
McMurray, C.T.10
-
122
-
-
4544350816
-
Mouse tissue culture models of unstable triplet repeats
-
Gomes-Pereira M., and Monckton D.G. Mouse tissue culture models of unstable triplet repeats. Meth. Mol. Biol. 277 (2004) 215-228
-
(2004)
Meth. Mol. Biol.
, vol.277
, pp. 215-228
-
-
Gomes-Pereira, M.1
Monckton, D.G.2
-
123
-
-
0035311021
-
Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates
-
Gomes-Pereira M., Fortune M.T., and Monckton D.G. Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates. Hum. Mol. Genet. 10 (2001) 845-854
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 845-854
-
-
Gomes-Pereira, M.1
Fortune, M.T.2
Monckton, D.G.3
-
124
-
-
0027205395
-
Nucleotide repeats. Slippery DNA and diseases
-
Kunkel T.A. Nucleotide repeats. Slippery DNA and diseases. Nature 365 (1993) 207-208
-
(1993)
Nature
, vol.365
, pp. 207-208
-
-
Kunkel, T.A.1
-
125
-
-
0028242797
-
Simple DNA is not replicated simply
-
Richards R.I., and Sutherland G.R. Simple DNA is not replicated simply. Nat. Genet. 6 (1994) 114-116
-
(1994)
Nat. Genet.
, vol.6
, pp. 114-116
-
-
Richards, R.I.1
Sutherland, G.R.2
-
126
-
-
22244446185
-
Advances in mechanisms of genetic instability related to hereditary neurological diseases
-
Wells R.D., Dere R., Hebert M.L., Napierala M., and Son L.S. Advances in mechanisms of genetic instability related to hereditary neurological diseases. Nucl. Acids Res. 33 (2005) 3785-3798
-
(2005)
Nucl. Acids Res.
, vol.33
, pp. 3785-3798
-
-
Wells, R.D.1
Dere, R.2
Hebert, M.L.3
Napierala, M.4
Son, L.S.5
-
127
-
-
15044351543
-
Structural roles of CTG repeats in slippage expansion during DNA replication
-
Chi L.M., and Lam S.L. Structural roles of CTG repeats in slippage expansion during DNA replication. Nucl. Acids Res. 33 (2005) 1604-1617
-
(2005)
Nucl. Acids Res.
, vol.33
, pp. 1604-1617
-
-
Chi, L.M.1
Lam, S.L.2
-
128
-
-
17644375808
-
Replication fork dynamics and dynamic mutations: the fork-shift model of repeat instability
-
Cleary J.D., and Pearson C.E. Replication fork dynamics and dynamic mutations: the fork-shift model of repeat instability. Trends Genet. 21 (2005) 272-280
-
(2005)
Trends Genet.
, vol.21
, pp. 272-280
-
-
Cleary, J.D.1
Pearson, C.E.2
-
129
-
-
0347418199
-
Alanine tracts: the expanding story of human illness and trinucleotide repeats
-
Brown L.Y., and Brown S.A. Alanine tracts: the expanding story of human illness and trinucleotide repeats. Trends Genet. 20 (2004) 51-58
-
(2004)
Trends Genet.
, vol.20
, pp. 51-58
-
-
Brown, L.Y.1
Brown, S.A.2
-
130
-
-
2542494916
-
Triplet repeat expansion generated by DNA slippage is suppressed by human flap endonuclease 1
-
Ruggiero B.L., and Topal M.D. Triplet repeat expansion generated by DNA slippage is suppressed by human flap endonuclease 1. J. Biol. Chem. 279 (2004) 23088-23097
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 23088-23097
-
-
Ruggiero, B.L.1
Topal, M.D.2
-
131
-
-
0029883805
-
Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci
-
Pearson C.E., and Sinden R.R. Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci. Biochemistry 35 (1996) 5041-5053
-
(1996)
Biochemistry
, vol.35
, pp. 5041-5053
-
-
Pearson, C.E.1
Sinden, R.R.2
-
132
-
-
0037321290
-
Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum
-
Wheeler V.C., Lebel L.A., Vrbanac V., Teed A., Te Riele H., and MacDonald M.E. Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Hum. Mol. Genet. 12 (2003) 273-281
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 273-281
-
-
Wheeler, V.C.1
Lebel, L.A.2
Vrbanac, V.3
Teed, A.4
Te Riele, H.5
MacDonald, M.E.6
-
133
-
-
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., Anderson N.H., and Monckton D.G. Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands. Hum. Mol. Genet. 8 (1999) 1061-1067
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1061-1067
-
-
Brock, G.J.R.1
Anderson, N.H.2
Monckton, D.G.3
-
134
-
-
0037427193
-
Characterization of trimethylpsoralen as a mutagen for mouse embryonic stem cells
-
Greber B., Lehrach H., and Himmelbauer H. Characterization of trimethylpsoralen as a mutagen for mouse embryonic stem cells. Mutat. Res. 525 (2003) 67-76
-
(2003)
Mutat. Res.
, vol.525
, pp. 67-76
-
-
Greber, B.1
Lehrach, H.2
Himmelbauer, H.3
-
135
-
-
17944402318
-
Hydrogen peroxide induced mutations at the HPRT locus in primary human T-lymphocytes
-
Diaz-Llera S., Podlutsky A., Osterholm A.M., Hou S.M., and Lambert B.
-
(2000)
Mutat. Res.
, vol.469
, pp. 51-61
-
-
Diaz-Llera, S.1
Podlutsky, A.2
Osterholm, A.M.3
Hou, S.M.4
Lambert, B.5
-
136
-
-
0027264476
-
Mouse minisatellite mutations induced by ionizing radiation
-
Dubrova Y.E., Jeffreys A.J., and Malashenko A.M. Mouse minisatellite mutations induced by ionizing radiation. Nat. Genet. 5 (1993) 92-94
-
(1993)
Nat. Genet.
, vol.5
, pp. 92-94
-
-
Dubrova, Y.E.1
Jeffreys, A.J.2
Malashenko, A.M.3
-
137
-
-
0028229761
-
Radiation induction of germline mutation at a hypervariable mouse minisatellite locus
-
Sadamoto S., Suzuki S., Kamiya K., Kominami R., Dohi K., and Niwa O. Radiation induction of germline mutation at a hypervariable mouse minisatellite locus. Int. J. Radiat. Biol. 65 (1994) 549-557
-
(1994)
Int. J. Radiat. Biol.
, vol.65
, pp. 549-557
-
-
Sadamoto, S.1
Suzuki, S.2
Kamiya, K.3
Kominami, R.4
Dohi, K.5
Niwa, O.6
-
138
-
-
0029965291
-
Human minisatellite mutation-rate after the chernobyl accident
-
Dubrova Y.E., Nesterov V.N., Krouchinsky N.G., Ostapenko V.A., Neumann R., Neil D.L., and Jeffreys A.J. Human minisatellite mutation-rate after the chernobyl accident. Nature 380 (1996) 683-686
-
(1996)
Nature
, vol.380
, pp. 683-686
-
-
Dubrova, Y.E.1
Nesterov, V.N.2
Krouchinsky, N.G.3
Ostapenko, V.A.4
Neumann, R.5
Neil, D.L.6
Jeffreys, A.J.7
-
139
-
-
0242548492
-
Germline mutation induction at mouse repeat DNA loci by chemical mutagens
-
Vilarino-Guell C., Smith A.G., and Dubrova Y.E. Germline mutation induction at mouse repeat DNA loci by chemical mutagens. Mutat. Res. 526 (2003) 63-73
-
(2003)
Mutat. Res.
, vol.526
, pp. 63-73
-
-
Vilarino-Guell, C.1
Smith, A.G.2
Dubrova, Y.E.3
-
140
-
-
33744917239
-
The offspring of irradiated parents. Are they stable?
-
Barber R., and Dubrova Y. The offspring of irradiated parents. Are they stable?. Mutat. Res. 598 (2006) 50-60
-
(2006)
Mutat. Res.
, vol.598
, pp. 50-60
-
-
Barber, R.1
Dubrova, Y.2
-
141
-
-
33744934755
-
Expanded simple tandem-repeat (ESTR) mutation induction in the male germline: lessons learned from lab mice
-
Somers C. Expanded simple tandem-repeat (ESTR) mutation induction in the male germline: lessons learned from lab mice. Mutat. Res. 598 (2006) 35-49
-
(2006)
Mutat. Res.
, vol.598
, pp. 35-49
-
-
Somers, C.1
-
142
-
-
33744903912
-
Indirect mechanisms of genomic instability and the biological significance of mutations at tandem repeat loci
-
Niwa O. Indirect mechanisms of genomic instability and the biological significance of mutations at tandem repeat loci. Mutat. Res. 598 (2006) 61-72
-
(2006)
Mutat. Res.
, vol.598
, pp. 61-72
-
-
Niwa, O.1
-
143
-
-
13444310994
-
Chemotherapeutic deletion of CTG repeats in lymphoblast cells from DM1 patients
-
Hashem V.I., Pytlos M.J., Klysik E.A., Tsuji K., Khajavi M., Ashizawa T., and Sinden R.R. Chemotherapeutic deletion of CTG repeats in lymphoblast cells from DM1 patients. Nucl. Acids Res. 32 (2004) 6334-6346
-
(2004)
Nucl. Acids Res.
, vol.32
, pp. 6334-6346
-
-
Hashem, V.I.1
Pytlos, M.J.2
Klysik, E.A.3
Tsuji, K.4
Khajavi, M.5
Ashizawa, T.6
Sinden, R.R.7
-
144
-
-
3042810192
-
Chemically induced increases and decreases in the rate of expansion of a CAG*CTG triplet repeat
-
Gomes-Pereira M., and Monckton D.G. Chemically induced increases and decreases in the rate of expansion of a CAG*CTG triplet repeat. Nucl. Acids Res. 32 (2004) 2865-2872
-
(2004)
Nucl. Acids Res.
, vol.32
, pp. 2865-2872
-
-
Gomes-Pereira, M.1
Monckton, D.G.2
-
145
-
-
17944404576
-
Mutagenic stress modulates the dynamics of CTG repeat instability associated with myotonic dystrophy type 1
-
Pineiro E., Fernandez-Lopez L., Gamez J., Marcos R., Surralles J., and Velazquez A. Mutagenic stress modulates the dynamics of CTG repeat instability associated with myotonic dystrophy type 1. Nucl. Acids Res. 31 (2003) 6733-6740
-
(2003)
Nucl. Acids Res.
, vol.31
, pp. 6733-6740
-
-
Pineiro, E.1
Fernandez-Lopez, L.2
Gamez, J.3
Marcos, R.4
Surralles, J.5
Velazquez, A.6
-
146
-
-
9744253732
-
Genome-wide demethylation destabilizes CTG·CAG trinucleotide repeats in mammalian cells
-
Gorbunova V., Seluanov A., Mittelman D., and Wilson J.H. Genome-wide demethylation destabilizes CTG·CAG trinucleotide repeats in mammalian cells. Hum. Mol. Genet. 13 (2004) 2979-2989
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 2979-2989
-
-
Gorbunova, V.1
Seluanov, A.2
Mittelman, D.3
Wilson, J.H.4
-
147
-
-
0033602015
-
Mimosine arrests proliferating human cells before onset of DNA replication in a dose-dependent manner
-
Krude T. Mimosine arrests proliferating human cells before onset of DNA replication in a dose-dependent manner. Exp. Cell Res. 247 (1999) 148-159
-
(1999)
Exp. Cell Res.
, vol.247
, pp. 148-159
-
-
Krude, T.1
-
148
-
-
0028297952
-
Inhibitor analysis of calf thymus DNA polymerases alpha, delta and epsilon
-
Wright G.E., Hubscher U., Khan N.N., Focher F., and Verri A. Inhibitor analysis of calf thymus DNA polymerases alpha, delta and epsilon. FEBS Lett. 341 (1994) 128-130
-
(1994)
FEBS Lett.
, vol.341
, pp. 128-130
-
-
Wright, G.E.1
Hubscher, U.2
Khan, N.N.3
Focher, F.4
Verri, A.5
-
149
-
-
0025931653
-
Emetine allows identification of origins of mammalian DNA replication by imbalanced DNA synthesis, not through conservative nucleosome segregation
-
Burhans W.C., Vassilev L.T., Wu J., Sogo J.M., Nallaseth F.S., and DePamphilis M.L. Emetine allows identification of origins of mammalian DNA replication by imbalanced DNA synthesis, not through conservative nucleosome segregation. EMBO J. 10 (1991) 4351-4360
-
(1991)
EMBO J.
, vol.10
, pp. 4351-4360
-
-
Burhans, W.C.1
Vassilev, L.T.2
Wu, J.3
Sogo, J.M.4
Nallaseth, F.S.5
DePamphilis, M.L.6
-
150
-
-
0038044708
-
Selectable system for monitoring the instability of CTG/CAG triplet repeats in mammalian cells
-
Gorbunova V., Seluanov A., Dion V., Sandor Z., Meservy J.L., and Wilson J.H. Selectable system for monitoring the instability of CTG/CAG triplet repeats in mammalian cells. Mol. Cell. Biol. 23 (2003) 4485-4493
-
(2003)
Mol. Cell. Biol.
, vol.23
, pp. 4485-4493
-
-
Gorbunova, V.1
Seluanov, A.2
Dion, V.3
Sandor, Z.4
Meservy, J.L.5
Wilson, J.H.6
-
152
-
-
0030935386
-
DNA polymerase delta is required for human mismatch repair in vitro
-
Longley M.J., Pierce A.J., and Modrich P. DNA polymerase delta is required for human mismatch repair in vitro. J. Biol. Chem. 272 (1997) 10917-10921
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 10917-10921
-
-
Longley, M.J.1
Pierce, A.J.2
Modrich, P.3
-
153
-
-
0016756802
-
Ethidium bromide as an uncoupler of oxidative phosphorylation
-
Miko M., and Chance B. Ethidium bromide as an uncoupler of oxidative phosphorylation. FEBS Lett. 54 (1975) 347-352
-
(1975)
FEBS Lett.
, vol.54
, pp. 347-352
-
-
Miko, M.1
Chance, B.2
-
154
-
-
0030038519
-
Nonsteroidal antiinflammatory drugs inhibit the proliferation of colon adenocarcinoma cells: effects on cell cycle and apoptosis
-
Shiff S.J., Koutsos M.I., Qiao L., and Rigas B. Nonsteroidal antiinflammatory drugs inhibit the proliferation of colon adenocarcinoma cells: effects on cell cycle and apoptosis. Exp. Cell Res. 222 (1996) 179-188
-
(1996)
Exp. Cell Res.
, vol.222
, pp. 179-188
-
-
Shiff, S.J.1
Koutsos, M.I.2
Qiao, L.3
Rigas, B.4
-
155
-
-
0028151343
-
Toxicity of 5-aza-2′-deoxycytidine to mammalian cells is mediated primarily by covalent trapping of DNA methyltransferase rather than DNA demethylation
-
Juttermann R., Li E., and Jaenisch R. Toxicity of 5-aza-2′-deoxycytidine to mammalian cells is mediated primarily by covalent trapping of DNA methyltransferase rather than DNA demethylation. Proc. Natl Acad. Sci. U.S.A. 91 (1994) 11797-11801
-
(1994)
Proc. Natl Acad. Sci. U.S.A.
, vol.91
, pp. 11797-11801
-
-
Juttermann, R.1
Li, E.2
Jaenisch, R.3
-
156
-
-
0034753174
-
Radiation and germline mutation at repeat sequences: are we in the middle of a paradigm shift?
-
Bridges B.A. Radiation and germline mutation at repeat sequences: are we in the middle of a paradigm shift?. Radiat. Res. 156 (2001) 631-641
-
(2001)
Radiat. Res.
, vol.156
, pp. 631-641
-
-
Bridges, B.A.1
-
157
-
-
0032559372
-
CTG repeats associated with human genetic disease are inherently flexible
-
Chastain P.D., and Sinden R.R. CTG repeats associated with human genetic disease are inherently flexible. J. Mol. Biol. 275 (1998) 405-411
-
(1998)
J. Mol. Biol.
, vol.275
, pp. 405-411
-
-
Chastain, P.D.1
Sinden, R.R.2
-
158
-
-
0028957039
-
Hairpin properties of single-stranded DNA containing a GC-rich triplet repeat: (CTG)15
-
Mitas M., Yu A., Dill J., Kamp T.J., Chambers E.J., and Haworth I.S. Hairpin properties of single-stranded DNA containing a GC-rich triplet repeat: (CTG)15. Nucl. Acids Res. 23 (1995) 1050-1059
-
(1995)
Nucl. Acids Res.
, vol.23
, pp. 1050-1059
-
-
Mitas, M.1
Yu, A.2
Dill, J.3
Kamp, T.J.4
Chambers, E.J.5
Haworth, I.S.6
-
159
-
-
0032498265
-
Secondary structures in d(CGG) and d(CCG) repeat tracts
-
Darlow J.M., and Leach D.R. Secondary structures in d(CGG) and d(CCG) repeat tracts. J. Mol. Biol. 275 (1998) 3-16
-
(1998)
J. Mol. Biol.
, vol.275
, pp. 3-16
-
-
Darlow, J.M.1
Leach, D.R.2
-
160
-
-
2642689662
-
Structural analysis of slipped-strand DNA (S-DNA) formed in (CTG)n·(CAG)n repeats from the myotonic dystrophy locus
-
Pearson C.E., Wang Y.H., Griffith J.D., and Sinden R.R. Structural analysis of slipped-strand DNA (S-DNA) formed in (CTG)n·(CAG)n repeats from the myotonic dystrophy locus. Nucl. Acids Res. 26 (1998) 816-823
-
(1998)
Nucl. Acids Res.
, vol.26
, pp. 816-823
-
-
Pearson, C.E.1
Wang, Y.H.2
Griffith, J.D.3
Sinden, R.R.4
-
161
-
-
0031941447
-
The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure
-
Bidichandani S.I., Ashizawa T., and Patel P.I. The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am. J. Hum. Genet. 62 (1998) 111-121
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 111-121
-
-
Bidichandani, S.I.1
Ashizawa, T.2
Patel, P.I.3
-
162
-
-
23644452057
-
Small-molecule ligand induces nucleotide flipping in (CAG)n trinucleotide repeats
-
Nakatani K., Hagihara S., Goto Y., Kobori A., Hagihara M., Hayashi G., Kyo M., Nomura M., Mishima M., and Kojima C. Small-molecule ligand induces nucleotide flipping in (CAG)n trinucleotide repeats. Nat. Chem. Biol. 1 (2005) 39-43
-
(2005)
Nat. Chem. Biol.
, vol.1
, pp. 39-43
-
-
Nakatani, K.1
Hagihara, S.2
Goto, Y.3
Kobori, A.4
Hagihara, M.5
Hayashi, G.6
Kyo, M.7
Nomura, M.8
Mishima, M.9
Kojima, C.10
-
163
-
-
0029111463
-
MSH2 deficient mice are viable and susceptible to lymphoid tumours
-
Reitmair A.H., Schmits R., Ewel A., Bapat B., Redston M., Mitri A., Waterhouse P., Mittrucker H.W., Wakeham A., Liu B., et al. MSH2 deficient mice are viable and susceptible to lymphoid tumours. Nat. Genet. 11 (1995) 64-70
-
(1995)
Nat. Genet.
, vol.11
, pp. 64-70
-
-
Reitmair, A.H.1
Schmits, R.2
Ewel, A.3
Bapat, B.4
Redston, M.5
Mitri, A.6
Waterhouse, P.7
Mittrucker, H.W.8
Wakeham, A.9
Liu, B.10
-
164
-
-
0034652474
-
The DNA mismatch repair genes Msh3 and Msh6 cooperate in intestinal tumor suppression
-
Edelmann W., Umar A., Yang K., Heyer J., Kucherlapati M., Lia M., Kneitz B., Avdievich E., Fan K., Wong E., Crouse G., Kunkel T., Lipkin M., Kolodner R.D., and Kucherlapati R. The DNA mismatch repair genes Msh3 and Msh6 cooperate in intestinal tumor suppression. Cancer Res. 60 (2000) 803-807
-
(2000)
Cancer Res.
, vol.60
, pp. 803-807
-
-
Edelmann, W.1
Umar, A.2
Yang, K.3
Heyer, J.4
Kucherlapati, M.5
Lia, M.6
Kneitz, B.7
Avdievich, E.8
Fan, K.9
Wong, E.10
Crouse, G.11
Kunkel, T.12
Lipkin, M.13
Kolodner, R.D.14
Kucherlapati, R.15
-
165
-
-
0032726607
-
HNPCC-like cancer predisposition in mice through simultaneous loss of Msh3 and Msh6 mismatch-repair protein functions
-
de Wind N., Dekker M., Claij N., Jansen L., van Klink Y., Radman M., Riggins G., van der Valk M., van't Wout K., and te Riele H. HNPCC-like cancer predisposition in mice through simultaneous loss of Msh3 and Msh6 mismatch-repair protein functions. Nat. Genet. 23 (1999) 359-362
-
(1999)
Nat. Genet.
, vol.23
, pp. 359-362
-
-
de Wind, N.1
Dekker, M.2
Claij, N.3
Jansen, L.4
van Klink, Y.5
Radman, M.6
Riggins, G.7
van der Valk, M.8
van't Wout, K.9
te Riele, H.10
-
166
-
-
0037239781
-
A novel mechanism for aspirin-mediated growth inhibition of human colon cancer cells
-
Goel A., Chang D.K., Ricciardiello L., Gasche C., and Boland C.R. A novel mechanism for aspirin-mediated growth inhibition of human colon cancer cells. Clin. Cancer Res. 9 (2003) 383-390
-
(2003)
Clin. Cancer Res.
, vol.9
, pp. 383-390
-
-
Goel, A.1
Chang, D.K.2
Ricciardiello, L.3
Gasche, C.4
Boland, C.R.5
-
167
-
-
0000818854
-
A novel, heritable, expanding CTG repeat in an intron of the SEF2 1 gene on chromosome 18q21.1
-
Breschel T.S., McInnis M.G., Margolis R.L., Sirugo G., Corneliussen B., Simpson S.G., McMahon F., MacKinnon D.F., Xu J.F., Pleasant N., Huo Y., Ashworth R.G., Grundstrom C., Grundstrom T., Kidd K.K., DePaulo J.R., and Ross C.A. A novel, heritable, expanding CTG repeat in an intron of the SEF2 1 gene on chromosome 18q21.1. Hum. Mol. Genet. 6 (1997) 1855-1863
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1855-1863
-
-
Breschel, T.S.1
McInnis, M.G.2
Margolis, R.L.3
Sirugo, G.4
Corneliussen, B.5
Simpson, S.G.6
McMahon, F.7
MacKinnon, D.F.8
Xu, J.F.9
Pleasant, N.10
Huo, Y.11
Ashworth, R.G.12
Grundstrom, C.13
Grundstrom, T.14
Kidd, K.K.15
DePaulo, J.R.16
Ross, C.A.17
-
168
-
-
17644447664
-
A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q
-
Ikeuchi T., Sanpei K., Takano H., Sasaki H., Tashiro K., Cancel G., Brice A., Bird T.D., Schellenberg G.D., PericakVance M.A., WelshBohmer K.A., Clark L.N., Wilhelmsen K., and Tsuji S. A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q. Genomics 49 (1998) 321-326
-
(1998)
Genomics
, vol.49
, pp. 321-326
-
-
Ikeuchi, T.1
Sanpei, K.2
Takano, H.3
Sasaki, H.4
Tashiro, K.5
Cancel, G.6
Brice, A.7
Bird, T.D.8
Schellenberg, G.D.9
PericakVance, M.A.10
WelshBohmer, K.A.11
Clark, L.N.12
Wilhelmsen, K.13
Tsuji, S.14
-
169
-
-
0031439034
-
A CAG/CTG expansion in the normal population
-
Nakamoto M., Takebayashi H., Kawaguchi Y., Narumiya S., Taniwaki M., Nakamura Y., Ishikawa Y., Akiguchi I., Kimura J., and Kakizuka A. A CAG/CTG expansion in the normal population. Nat. Genet. 17 (1997) 385-386
-
(1997)
Nat. Genet.
, vol.17
, pp. 385-386
-
-
Nakamoto, M.1
Takebayashi, H.2
Kawaguchi, Y.3
Narumiya, S.4
Taniwaki, M.5
Nakamura, Y.6
Ishikawa, Y.7
Akiguchi, I.8
Kimura, J.9
Kakizuka, A.10
-
170
-
-
29344436029
-
Expansion of GAA trinucleotide repeats in mammals
-
Clark R.M., Bhaskar S.S., Miyahara M., Dalgliesh G.L., and Bidichandani S.I. Expansion of GAA trinucleotide repeats in mammals. Genomics 87 (2006) 56-57
-
(2006)
Genomics
, vol.87
, pp. 56-57
-
-
Clark, R.M.1
Bhaskar, S.S.2
Miyahara, M.3
Dalgliesh, G.L.4
Bidichandani, S.I.5
-
171
-
-
24344481752
-
Microsatellite instability (MSI) increases with age in normal somatic cells
-
Coolbaugh-Murphy M.I., Xu J., Ramagli L.S., Brown B.W., and Siciliano M.J. Microsatellite instability (MSI) increases with age in normal somatic cells. Mech. Ageing Dev. 126 (2005) 1051-1059
-
(2005)
Mech. Ageing Dev.
, vol.126
, pp. 1051-1059
-
-
Coolbaugh-Murphy, M.I.1
Xu, J.2
Ramagli, L.S.3
Brown, B.W.4
Siciliano, M.J.5
-
172
-
-
24344479607
-
Using robots to find needles
-
Monckton D.G. Using robots to find needles. Mech. Ageing Dev. 126 (2005) 1046-1050
-
(2005)
Mech. Ageing Dev.
, vol.126
, pp. 1046-1050
-
-
Monckton, D.G.1
-
173
-
-
18344379670
-
A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2
-
Holmes S.E., O'Hearn E., Rosenblatt A., Callahan C., Hwang H.S., Ingersoll-Ashworth R.G., Fleisher A., Stevanin G., Brice A., Potter N.T., Ross C.A., and Margolis R.L. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nat. Genet. 29 (2001) 377-378
-
(2001)
Nat. Genet.
, vol.29
, pp. 377-378
-
-
Holmes, S.E.1
O'Hearn, E.2
Rosenblatt, A.3
Callahan, C.4
Hwang, H.S.5
Ingersoll-Ashworth, R.G.6
Fleisher, A.7
Stevanin, G.8
Brice, A.9
Potter, N.T.10
Ross, C.A.11
Margolis, R.L.12
|