-
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., Pizzuti A., Pieretti A., Pieretti M., Sutcliffe J.S., Richards S., Verkerk A.J., Holden J.J., Fenwick R.G., Warren S.T., et al. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell 1991, 67:1047-1058.
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.H.1
Kuhl, D.P.2
Pizzuti, A.3
Pieretti, A.4
Pieretti, M.5
Sutcliffe, J.S.6
Richards, S.7
Verkerk, A.J.8
Holden, J.J.9
Fenwick, R.G.10
Warren, S.T.11
-
2
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
La Spada A.R., Wilson E.M., Lubahan D.B., Harding A.E., Fischbeck K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991, 352:77-79.
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
la Spada, A.R.1
Wilson, E.M.2
Lubahan, D.B.3
Harding, A.E.4
Fischbeck, K.H.5
-
3
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr H.T., Chung M.Y., Banfi S., Kwiatkowski T.J., Servadio A., Beaudet A.L., McCall A.E., Duvick L.A., Ranum L.P., Zoghbi H.Y. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat. Genet. 1993, 4:221-226.
-
(1993)
Nat. Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.Y.2
Banfi, S.3
Kwiatkowski, T.J.4
Servadio, A.5
Beaudet, A.L.6
McCall, A.E.7
Duvick, L.A.8
Ranum, L.P.9
Zoghbi, H.Y.10
-
4
-
-
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., Brice A. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat. Genet. 1996, 14:285-291.
-
(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
-
5
-
-
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., et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat. Genet. 1994, 8:221-228.
-
(1994)
Nat. Genet
, vol.8
, pp. 221-228
-
-
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
-
6
-
-
16944364511
-
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
-
David G., Abbas N., Stevanin G., Durr 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., Brice A. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat. Genet. 1997, 17:65-70.
-
(1997)
Nat. Genet
, vol.17
, pp. 65-70
-
-
David, G.1
Abbas, N.2
Stevanin, G.3
Durr, 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
-
7
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
Hungtington's Disease Research Collaborative Group
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993, 72:971-983. Hungtington's Disease Research Collaborative Group.
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
8
-
-
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., et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat. Genet. 1994, 6:9-13.
-
(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
-
9
-
-
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., et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992, 255:1256-1258.
-
(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
-
10
-
-
0027122152
-
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., et al. Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3? end of a transcript encoding a protein kinase family member. Cell 1992, 69:385.
-
(1992)
Cell
, vol.69
, pp. 385
-
-
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
-
11
-
-
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. Myotonic dystrophy mutation: An unstable CTG repeat in the 3? untranslated region of the gene. Science 1992, 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
-
12
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA tripeat expansion
-
Campuzano V., Montermini L., Molto M.D., Pianese L., Cossee M., Cavalcanti F., Monros E., Rodius F., Duclos F., Monticelli A., et al. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA tripeat expansion. Science 1996, 271:1423-1427.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.D.3
Pianese, L.4
Cossee, M.5
Cavalcanti, F.6
Monros, E.7
Rodius, F.8
Duclos, F.9
Monticelli, A.10
-
13
-
-
0034329159
-
Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease
-
Gusella J.F., MacDonald M.E. Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease. Nat. Rev. Neurosci. 2000, 1:109-115.
-
(2000)
Nat. Rev. Neurosci
, vol.1
, pp. 109-115
-
-
Gusella, J.F.1
MacDonald, M.E.2
-
14
-
-
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., Thornton C.A. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 2000, 289:1769-1773.
-
(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
-
15
-
-
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., 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. USA 1997, 94:7388-7393.
-
(1997)
Proc. Natl. Acad. Sci. USA
, 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
-
16
-
-
0033120042
-
Sticky DNA: Self-association properties of long GAA TTC repeates in R. R. Y triplex structures from Friedreich's ataxia
-
Sakamoto N., Chastain P.D., Parniewski P., Ohshima K., Pandolfo M., Griffith J.D., Wells R.D. Sticky DNA: Self-association properties of long GAA TTC repeates in R. R. Y triplex structures from Friedreich's ataxia. Mol. Cell 1999, 3:465-475.
-
(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
-
17
-
-
0030845879
-
Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP
-
Klesert T.R., Otten A.D., Bird T.D., Tapscott S.J. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nat. Genet. 1997, 16:403-406.
-
(1997)
Nat. Genet
, vol.16
, pp. 403-406
-
-
Klesert, T.R.1
Otten, A.D.2
Bird, T.D.3
Tapscott, S.J.4
-
18
-
-
0034639857
-
Understanding the molecular basis of fragile X syndrome
-
Jin P., Warren S.T. Understanding the molecular basis of fragile X syndrome. Hum. Mol. Genet. 2000, 9:901-908.
-
(2000)
Hum. Mol. Genet
, vol.9
, pp. 901-908
-
-
Jin, P.1
Warren, S.T.2
-
19
-
-
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., Ranum L.P. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat. Genet. 1999, 21:379-384.
-
(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
-
20
-
-
0035475642
-
Dynamic mutations: A decade of unstable expanded repeats in human genetic disease
-
Richards R.I. Dynamic mutations: A decade of unstable expanded repeats in human genetic disease. Hum. Mol. Genet. 2001, 10:2187-2194.
-
(2001)
Hum. Mol. Genet
, vol.10
, pp. 2187-2194
-
-
Richards, R.I.1
-
21
-
-
0034640011
-
Fourteen and counting: Unraveling trinucleotide repeat diseases
-
Cummings C.J., Zoghbi H.Y. Fourteen and counting: Unraveling trinucleotide repeat diseases. Hum. Mol. Genet. 2000, 9:909-916.
-
(2000)
Hum. Mol. Genet
, vol.9
, pp. 909-916
-
-
Cummings, C.J.1
Zoghbi, H.Y.2
-
22
-
-
0028873248
-
Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses
-
Monckton D.G., Wong L.J., Ashizawa T., Caskey C.T. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses. Hum. Mol. Genet. 1995, 4:1-8.
-
(1995)
Hum. Mol. Genet
, vol.4
, pp. 1-8
-
-
Monckton, D.G.1
Wong, L.J.2
Ashizawa, T.3
Caskey, C.T.4
-
23
-
-
0029019623
-
Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: Evidence for a casual involvement of methyl-directed DNA mismatch repair in triplet repeat stability
-
Wörhle D., Kennerknecht I., Wolf M., Enders H., Schwemmle S., Steinbach P. Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: Evidence for a casual involvement of methyl-directed DNA mismatch repair in triplet repeat stability. Hum. Mol. Genet. 1995, 4:1147-1153.
-
(1995)
Hum. Mol. Genet
, vol.4
, pp. 1147-1153
-
-
Wörhle, D.1
Kennerknecht, I.2
Wolf, M.3
Enders, H.4
Schwemmle, S.5
Steinbach, P.6
-
24
-
-
0026767610
-
Dynamic mutations: A new class of mutations causing human disease
-
Richards R.I., Sutherland G.R. Dynamic mutations: A new class of mutations causing human disease. Cell 1992, 70:709-712.
-
(1992)
Cell
, vol.70
, pp. 709-712
-
-
Richards, R.I.1
Sutherland, G.R.2
-
25
-
-
0027251874
-
Origin of the expansion mutation in myotonic dystrophy
-
Imbert G., Kretz C., Johnson K., Mandel J.L. Origin of the expansion mutation in myotonic dystrophy. Nat. Genet. 1993, 4:72-76.
-
(1993)
Nat. Genet
, vol.4
, pp. 72-76
-
-
Imbert, G.1
Kretz, C.2
Johnson, K.3
Mandel, J.L.4
-
26
-
-
0026885037
-
Anticipation in myotonic dystrophy: New light on an old problem
-
Harper P.S., Harley H.G., Reardon W., Shaw D.J. Anticipation in myotonic dystrophy: New light on an old problem. Am. J. Hum. Genet. 1992, 51:10-16.
-
(1992)
Am. J. Hum. Genet
, vol.51
, pp. 10-16
-
-
Harper, P.S.1
Harley, H.G.2
Reardon, W.3
Shaw, D.J.4
-
27
-
-
0026894334
-
Moderate instability of the trinucleotide repeat in spinobulbar muscular atrophy
-
Biancalana V., Serville F., Pommier J., Julien J., Hanauer A., Mandel J.L. Moderate instability of the trinucleotide repeat in spinobulbar muscular atrophy. Hum. Mol. Genet. 1992, 1:255-258.
-
(1992)
Hum. Mol. Genet
, vol.1
, pp. 255-258
-
-
Biancalana, V.1
Serville, F.2
Pommier, J.3
Julien, J.4
Hanauer, A.5
Mandel, J.L.6
-
28
-
-
6844254538
-
Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)
-
David G., Durr 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., Brice A. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum. Mol. Genet. 1998, 7:165-170.
-
(1998)
Hum. Mol. Genet
, vol.7
, pp. 165-170
-
-
David, G.1
Durr, 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
-
29
-
-
6844252925
-
Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission
-
Gouw L.G., Castaneda 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., Ptacek L.J. Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. Hum. Mol. Genet. 1998, 7:525-532.
-
(1998)
Hum. Mol. Genet
, vol.7
, pp. 525-532
-
-
Gouw, L.G.1
Castaneda, 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
Ptacek, L.J.14
-
30
-
-
0027240431
-
Trinucleotide repeat length instability and age of onset in Hungtington's disease
-
Duyao M., Ambrose C., Myers R., Novelletto A., Persichetti F., Frontali M., Folstein S., Ross C., Franz M., Abbott M., et al. Trinucleotide repeat length instability and age of onset in Hungtington's disease. Nat. Genet. 1993, 4:387-392.
-
(1993)
Nat. Genet
, vol.4
, pp. 387-392
-
-
Duyao, M.1
Ambrose, C.2
Myers, R.3
Novelletto, A.4
Persichetti, F.5
Frontali, M.6
Folstein, S.7
Ross, C.8
Franz, M.9
Abbott, M.10
-
31
-
-
0027745692
-
Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene
-
Zuhlke C., Riess O., Bockel B., Lange H., Thies U. Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene. Hum. Mol. Genet. 1993, 2:2063-2067.
-
(1993)
Hum. Mol. Genet
, vol.2
, pp. 2063-2067
-
-
Zuhlke, C.1
Riess, O.2
Bockel, B.3
Lange, H.4
Thies, U.5
-
32
-
-
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., 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. 1998, 7:1901-1906.
-
(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
-
33
-
-
0031035455
-
The effect of parental gender on the GAA dynamic mutation in the FRDA gene
-
Pianese L., Cavalcanti F., De Michele G., Filla A., Campanella G., Calabrese O., Castaldo I., Monticelli A., Cocozza S. The effect of parental gender on the GAA dynamic mutation in the FRDA gene. Am. J. Hum. Genet. 1997, 60:460-463.
-
(1997)
Am. J. Hum. Genet
, vol.60
, pp. 460-463
-
-
Pianese, L.1
Cavalcanti, F.2
de Michele, G.3
Filla, A.4
Campanella, G.5
Calabrese, O.6
Castaldo, I.7
Monticelli, A.8
Cocozza, S.9
-
34
-
-
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. 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. 1993, 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
-
35
-
-
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., Junien C. Myotonic dystrophy: Size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. Am. J. Hum. Genet. 1993, 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
-
36
-
-
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., Wieringa B. 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. 1994, 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
-
37
-
-
0026939635
-
Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype
-
Shelbourne P., Winqvist R., Kunert E., Davies J., Leisti J., Thiele H., Bachmann H., Buxton J., Williamson B., Johnson K. Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype. Hum. Mol. Genet. 1992, 1:467-473.
-
(1992)
Hum. Mol. Genet
, vol.1
, pp. 467-473
-
-
Shelbourne, P.1
Winqvist, 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
-
38
-
-
0030071077
-
(CTG)n expansions in various tissues from a myotonic dystrophy patient
-
Kinoshita M., Takahashi R., Hasegawa T., Komori T., Nagasawa R., Hirose K., Tanabe H. (CTG)n expansions in various tissues from a myotonic dystrophy patient. Muscle Nerve 1996, 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
-
39
-
-
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., et al. Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nat. Genet. 1994, 6:409-414.
-
(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
-
40
-
-
0346752132
-
Dramatic tissue-specific mutation length increases are an early molecular event in Hungtinton disease pathogenesis
-
Kennedy L., Evans E., Chen C.M., Craven L., Detloff P.J., Ennis M., Shelbourne P.F. Dramatic tissue-specific mutation length increases are an early molecular event in Hungtinton disease pathogenesis. Hum. Mol. Genet. 2003, 12:3359-3367.
-
(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
-
41
-
-
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., Zoghbi H.Y. Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nat. Genet. 1995, 10:344-350.
-
(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
-
42
-
-
0033109233
-
Somatic mosaicism of expanded CAG trinucelotide repeat in the neural and nonneural tissues of Machado-Joseph disease (MJD)
-
Tanaka F., Ito Y., Sobue G. Somatic mosaicism of expanded CAG trinucelotide repeat in the neural and nonneural tissues of Machado-Joseph disease (MJD). Nippon Rinsho 1999, 57:838-842.
-
(1999)
Nippon Rinsho
, vol.57
, pp. 838-842
-
-
Tanaka, F.1
Ito, Y.2
Sobue, G.3
-
43
-
-
0032712586
-
Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males
-
Monckton D.G., Cayuela M.L., Gould F.K., Brock G.J., Silva R., Ashizawa T. Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males. Hum. Mol. Genet. 1999, 8:2473-2478.
-
(1999)
Hum. Mol. Genet
, vol.8
, pp. 2473-2478
-
-
Monckton, D.G.1
Cayuela, M.L.2
Gould, F.K.3
Brock, G.J.4
Silva, R.5
Ashizawa, T.6
-
44
-
-
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., 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. 1996, 58:1212-1222.
-
(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
-
45
-
-
0033358560
-
Tissue-specific somatic mosaicism, in spinal and bulbar muscular atrophy is dependent on CAG-repat length androgen receptor-gene expression levels
-
Tanaka F., Reeves M.F., Ito Y., Matsumoto M., Li M., Miwa S., Inukai A., Yamoto M., Doyu M., Yoshida M., Hashizume Y., Terao S., Mitsuma T., Sobue G. Tissue-specific somatic mosaicism, in spinal and bulbar muscular atrophy is dependent on CAG-repat length androgen receptor-gene expression levels. Am. J. Hum. Genet. 1999, 65:966-973.
-
(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
Yamoto, M.8
Doyu, M.9
Yoshida, M.10
Hashizume, Y.11
Terao, S.12
Mitsuma, T.13
Sobue, G.14
-
46
-
-
0030044128
-
Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral-palli-doluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy
-
Tanaka F., Sobue G., Doyu M., Ito Y., Yamamoto M., Shimada N., Yamamoto K., Riku S., Hshizume Y., Mitsuma T. Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral-palli-doluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy. J. Neurol. Sci. 1996, 135:43-50.
-
(1996)
J. Neurol. Sci
, vol.135
, pp. 43-50
-
-
Tanaka, F.1
Sobue, G.2
Doyu, M.3
Ito, Y.4
Yamamoto, M.5
Shimada, N.6
Yamamoto, K.7
Riku, S.8
Hshizume, Y.9
Mitsuma, T.10
-
47
-
-
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., Haauer A., Boue J., Bertheas M.F., Mandel J.L. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991, 252:1097-1102.
-
(1991)
Science
, vol.252
, pp. 1097-1102
-
-
Oberle, I.1
Rousseau, F.2
Heitz, D.3
Kretz, C.4
Devys, D.5
Haauer, A.6
Boue, J.7
Bertheas, M.F.8
Mandel, J.L.9
-
48
-
-
0025952727
-
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
-
Rousseau F., Heitz D., Biancalana V., Blumenfeld S., Kretz C., Boue J., Tommerup N., Van Der Hagen C., DeLozier-Blanchet C., Croquette M.F., et al. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. New Engl. J. Med. 1991, 325:1673-1681.
-
(1991)
New Engl. J. Med
, vol.325
, pp. 1673-1681
-
-
Rousseau, F.1
Heitz, D.2
Biancalana, V.3
Blumenfeld, S.4
Kretz, C.5
Boue, J.6
Tommerup, N.7
van der Hagen, C.8
de Lozier-Blanchet, C.9
Croquette, M.F.10
-
49
-
-
0032739342
-
Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequences
-
Bidichandani S.I., Purandare S.M., Taylor E.E., Gumin G., Machkhas H., Harati Y., Gibbs R.A., Ashizawa T., Patel P.I. Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequences. Hum. Mol. Genet. 1999, 8:2425-2436.
-
(1999)
Hum. Mol. Genet
, vol.8
, pp. 2425-2436
-
-
Bidichandani, S.I.1
Purandare, S.M.2
Taylor, E.E.3
Gumin, G.4
Machkhas, H.5
Harati, Y.6
Gibbs, R.A.7
Ashizawa, T.8
Patel, P.I.9
-
50
-
-
0035135490
-
Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes
-
Hellenbroich Y., Schwinger E., Zuhlke C. Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes. Acta Neurol. Scand. 2001, 103:188-192.
-
(2001)
Acta Neurol. Scand
, vol.103
, pp. 188-192
-
-
Hellenbroich, Y.1
Schwinger, E.2
Zuhlke, C.3
-
51
-
-
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., Pandolfo M. Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system. Neurology 1997, 49:606-610.
-
(1997)
Neurology
, vol.49
, pp. 606-610
-
-
Montermini, L.1
Kish, S.J.2
Jiralerspong, S.3
Lamarche, J.B.4
Pandolfo, M.5
-
52
-
-
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., 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. 2002, 11:2175-2187.
-
(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
-
53
-
-
0026457624
-
The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy
-
Hunter A., Tsilfidis C., Mettler G., Jacob P., Mahadevan M., Surh L., Korneluk R. The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy. J. Med. Genet. 1992, 29:774-779.
-
(1992)
J. Med. Genet
, vol.29
, pp. 774-779
-
-
Hunter, A.1
Tsilfidis, C.2
Mettler, G.3
Jacob, P.4
Mahadevan, M.5
Surh, L.6
Korneluk, R.7
-
54
-
-
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., Edstrom L. Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum. Mol. Genet. 1993, 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
-
55
-
-
0027716510
-
Somatic instability of CTG repeat in myotonic dystrophy
-
Ashizawa T., Dubel J.R., Harati Y. Somatic instability of CTG repeat in myotonic dystrophy. Neurology 1993, 43:2674-2678.
-
(1993)
Neurology
, vol.43
, pp. 2674-2678
-
-
Ashizawa, T.1
Dubel, J.R.2
Harati, Y.3
-
56
-
-
0027957470
-
Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
-
Thornton C.A., Johnson K., Moxley R.T. Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann. Neurol. 1994, 35:104-107.
-
(1994)
Ann. Neurol
, vol.35
, pp. 104-107
-
-
Thornton, C.A.1
Johnson, K.2
Moxley, R.T.3
-
57
-
-
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., de Munain A.L., Baiget M. Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients. Hum. Mol. Genet. 1998, 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
de Munain, A.L.6
Baiget, M.7
-
58
-
-
0028890669
-
Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent
-
Wong L.J., Ashizawa T., Monckton D.G., Caskey C.T., Richards C.S. Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am. J. Hum. Genet. 1995, 56:114-122.
-
(1995)
Am. J. Hum. Genet
, vol.56
, pp. 114-122
-
-
Wong, L.J.1
Ashizawa, T.2
Monckton, D.G.3
Caskey, C.T.4
Richards, C.S.5
-
59
-
-
0029035379
-
Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli
-
Kang S., Jaworski A., Ohshima K., Wells R.D. Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli. Nat. Genet. 1995, 10:213-218.
-
(1995)
Nat. Genet
, vol.10
, pp. 213-218
-
-
Kang, S.1
Jaworski, A.2
Ohshima, K.3
Wells, R.D.4
-
60
-
-
0030895078
-
Stability of a CTA/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome
-
Freudenreich C.H., Stavenhagen J.B., Zakian V.A. Stability of a CTA/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome. Mol. Cell. Biol. 1997, 17:2090-2098.
-
(1997)
Mol. Cell. Biol
, vol.17
, pp. 2090-2098
-
-
Freudenreich, C.H.1
Stavenhagen, J.B.2
Zakian, V.A.3
-
61
-
-
0032514711
-
Orientation-dependent and sequence-specific expansions of CTG CAG trinucleotide repeats in Saccharomyces cerevisiae
-
Miret J.J., Pessoa-Brandao L., Lahue R.S. Orientation-dependent and sequence-specific expansions of CTG CAG trinucleotide repeats in Saccharomyces cerevisiae. Proc. Natl. Acad. Sci. USA 1998, 95:12438-12443.
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 12438-12443
-
-
Miret, J.J.1
Pessoa-Brandao, L.2
Lahue, R.S.3
-
62
-
-
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., Wells R.D. Transcription increases the deletion frequency of long CTG CAG triplet repeats from plasmids in Escherichia coli. Nucleic Acids Res. 1997, 25:2861-2868.
-
(1997)
Nucleic 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
-
63
-
-
0033955771
-
Two opposing effects of mismatch repair on CTG repeat instability in Escherichia coli
-
Schmidt K.H., Abbott C.M., Leach D.R. Two opposing effects of mismatch repair on CTG repeat instability in Escherichia coli. Mol. Microbiol. 2000, 35:463-471.
-
(2000)
Mol. Microbiol
, vol.35
, pp. 463-471
-
-
Schmidt, K.H.1
Abbott, C.M.2
Leach, D.R.3
-
64
-
-
0033556218
-
Nucleotide excision repair affects the stability of long transcribed (CTG CAG) tracts in an orientation-dependent manner in Escherichia coli
-
Parniewski P., Bacolla A., Jaworski A., Wells R.D. Nucleotide excision repair affects the stability of long transcribed (CTG CAG) tracts in an orientation-dependent manner in Escherichia coli. Nucleic Acids Res. 1999, 27:616-623.
-
(1999)
Nucleic Acids Res
, vol.27
, pp. 616-623
-
-
Parniewski, P.1
Bacolla, A.2
Jaworski, A.3
Wells, R.D.4
-
65
-
-
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., Wells R.D. Mismatch repair in Escherichia coli enhances instability of (CTG)n triplet repeats from human hereditary diseases. Proc. Natl. Acad. Sci. USA 1995, 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
-
66
-
-
0031057683
-
Destabilization of CAG trinucleotide repeat by mismatch repair mutations in yeast
-
Schweitzer J.K., Livingston D.M. Destabilization of CAG trinucleotide repeat by mismatch repair mutations in yeast. Hum. Mol. Genet. 1997, 6:349-355.
-
(1997)
Hum. Mol. Genet
, vol.6
, pp. 349-355
-
-
Schweitzer, J.K.1
Livingston, D.M.2
-
67
-
-
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., Fischbeck K.H. Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice. Nat. Genet. 1995, 9:191-196.
-
(1995)
Nat. Genet
, vol.9
, pp. 191-196
-
-
Bingham, P.M.1
Scott, M.O.2
Wang, S.3
McPhaul, M.J.4
Wilson, E.M.5
Garbern, J.Y.6
Merry, D.E.7
Fischbeck, K.H.8
-
68
-
-
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., Orr H.T. SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 1995, 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
-
69
-
-
0030058208
-
Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo
-
Ikeda H., Yamaguchi M., Sugai S., Aze Y., Narumiya S., Kakizuka A. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat. Genet. 1996, 13:196-202.
-
(1996)
Nat. Genet
, vol.13
, pp. 196-202
-
-
Ikeda, H.1
Yamaguchi, M.2
Sugai, S.3
Aze, Y.4
Narumiya, S.5
Kakizuka, A.6
-
70
-
-
9044229711
-
Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Hungtington disease transcript
-
Goldberg Y.P., Kalchman M.A., Metzler M., Nasir J., Zeisler J., Graham R., Koide H.B., O'Kusky J., Sharp A.H., Ross C.A., Jirik F., Hayden M.R. Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Hungtington disease transcript. Hum. Mol. Genet. 1996, 5:177-185.
-
(1996)
Hum. Mol. Genet
, vol.5
, pp. 177-185
-
-
Goldberg, Y.P.1
Kalchman, M.A.2
Metzler, 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
Jirik, F.11
Hayden, M.R.12
-
71
-
-
0031054076
-
Hypermutable myotonic dystrophy CTG repeats in transgenic mice
-
Monckton D.G., Coolbaugh M.I., Ashizawa K.T., Siciliano M.J., Caskey C.T. Hypermutable myotonic dystrophy CTG repeats in transgenic mice. Nat. Genet. 1997, 15:193-196.
-
(1997)
Nat. 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
-
72
-
-
0031054076
-
Hypermutable myotonic dystrophy CTG repeats in transgenic mice
-
Mangiarini L., Sathasivam K., Mahal A., Mott R., Seller M., Bates G.P. Hypermutable myotonic dystrophy CTG repeats in transgenic mice. Nat. Genet. 1997, 15:193-196.
-
(1997)
Nat. Genet
, vol.15
, pp. 193-196
-
-
Mangiarini, L.1
Sathasivam, K.2
Mahal, A.3
Mott, R.4
Seller, M.5
Bates, G.P.6
-
73
-
-
0031056685
-
Instability of highly expanded CAG repeats in mice transgenic for the Huntinton's disease mutation
-
Mangiarini L., Sathasivam K., Mahal A., Mott R., Seller M., Bates G.P. Instability of highly expanded CAG repeats in mice transgenic for the Huntinton's disease mutation. Nat. Genet. 1997, 15:197-200.
-
(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
-
74
-
-
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., Hofmann-Radvanyi H. Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice. Nat. Genet. 1997, 15:190-192.
-
(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
-
75
-
-
0032104278
-
Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are not intrinsically unstable in transgenic mice
-
Lavedan C., Crabczyk E., Usdin K., Nussbaum R.L. Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are not intrinsically unstable in transgenic mice. Genomics 1998, 50:229-240.
-
(1998)
Genomics
, vol.50
, pp. 229-240
-
-
Lavedan, C.1
Crabczyk, E.2
Usdin, K.3
Nussbaum, R.L.4
-
76
-
-
0036990028
-
Instability of CGG repeats in transgenic mice
-
Baskaran S., Datta S., Mandal A., Gulati N., Totey S., Anand R.R., Brahmachari V. Instability of CGG repeats in transgenic mice. Genomics 2002, 80:151-157.
-
(2002)
Genomics
, vol.80
, pp. 151-157
-
-
Baskaran, S.1
Datta, S.2
Mandal, A.3
Gulati, N.4
Totey, S.5
Anand, R.R.6
Brahmachari, V.7
-
77
-
-
0036417439
-
Instability of a premutationsized CGG repeat in FMR1 YAC transgenic mice
-
Peier A.M., Nelson D.L. Instability of a premutationsized CGG repeat in FMR1 YAC transgenic mice. Genomics 2002, 80:423-432.
-
(2002)
Genomics
, vol.80
, pp. 423-432
-
-
Peier, A.M.1
Nelson, D.L.2
-
78
-
-
0035423079
-
Instability of a (CGG)98 repeat in the Fmr1 promote
-
Bontekoe C.J., Bakker C.E., Nieuwenhuizen I.M., van der Linde H., Lans H., de Lange D., Hirst M.C., Oostra B.A. Instability of a (CGG)98 repeat in the Fmr1 promote. Hum. Mol. Genet. 2001, 10:1693-1699.
-
(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
-
79
-
-
3042654716
-
GAA repeat instability in Friedreich ataxia YAC transgenic mice
-
Al-Mahdawi S., Pinto R.M., Ruddle P., Carroll C., Webster Z., Pook M. GAA repeat instability in Friedreich ataxia YAC transgenic mice. Genomics 2004, 84:301-310.
-
(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
-
80
-
-
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., 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. 2000, 9:1185-1194.
-
(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
-
81
-
-
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., Hoffmann-Radvany H., Radvany F., Duros C., Saquet C., Blanche M., Junien C., 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. 1998, 7:1285-1291.
-
(1998)
Hum. Mol. Genet
, vol.7
, pp. 1285-1291
-
-
Lia, A.S.1
Seznec, H.2
Hoffmann-Radvany, H.3
Radvany, F.4
Duros, C.5
Saquet, C.6
Blanche, M.7
Junien, C.8
Gourdon, G.9
-
82
-
-
0037081784
-
Somatic expansion behaviour of the (CTG)(n) repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins
-
van Den Broek W.J., Nelen M.R., Wansink D.G., Coerwinkel M.M., te Riele H., Groenen P.J., Wieringa B. Somatic expansion behaviour of the (CTG)(n) repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins. Hum. Mol. Genet. 2002, 11:191-198.
-
(2002)
Hum. Mol. Genet
, vol.11
, pp. 191-198
-
-
van den Broek, W.J.1
Nelen, M.R.2
Wansink, D.G.3
Coerwinkel, M.M.4
te Riele, H.5
Groenen, P.J.6
Wieringa, B.7
-
83
-
-
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., Joyner A.L., MacDonald M.E. Length-dependent gametic CAG repeat instability in the Huntington's disease knockin mouse. Hum. Mol. Genet. 1999, 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
Joyner, A.L.11
MacDonald, M.E.12
-
84
-
-
0030700381
-
Increased trinucleotide repeat instability with advanced maternal age
-
Kaytor M.D., Burright E.N., Duvick L.A., Zoghbi H.Y., Orr H.T. Increased trinucleotide repeat instability with advanced maternal age. Hum. Mol. Genet. 1997, 6:2135-2139.
-
(1997)
Hum. Mol. Genet
, vol.6
, pp. 2135-2139
-
-
Kaytor, M.D.1
Burright, E.N.2
Duvick, L.A.3
Zoghbi, H.Y.4
Orr, H.T.5
-
85
-
-
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., McKnight G.S. Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability. Hum. Mol. Genet. 1998, 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
Trask, B.J.11
Fischbeck, K.H.12
Clegg, C.H.13
McKnight, G.S.14
-
86
-
-
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., Lau R., Einum D.D., Nichol K., Ware C.B., Ptacek L.J., Pearson C.E., 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. 2003, 12:41-50.
-
(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
Lau, R.11
Einum, D.D.12
Nichol, K.13
Ware, C.B.14
Ptacek, L.J.15
Pearson, C.E.16
la Spada, A.R.17
-
87
-
-
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., 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. 1999, 8:763-774.
-
(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
-
88
-
-
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., 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. 2001, 65:289-297.
-
(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
-
89
-
-
0034701278
-
Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Scal locus
-
Lorenzetti D., Watase K., Xu B., Matzuk M.M., Orr H.T., Zoghbi H.Y. Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Scal locus. Hum. Mol. Genet. 2000, 9:779-785.
-
(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
-
90
-
-
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., 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. 2003, 12:2789-2795.
-
(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
-
91
-
-
0034641887
-
Dramatic mutation instability in HD mouse striatum: Does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?
-
Kennedy L., 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. 2000, 9:2539-2544.
-
(2000)
Hum. Mol. Genet
, vol.9
, pp. 2539-2544
-
-
Kennedy, L.1
Shelbourne, P.F.2
-
92
-
-
18244408334
-
Frataxin knockin mouse
-
Miranda C.J., Santos M.M., Ohshima K., Smith J., Li L., Bunting M., Cossee M., Koenig M., Sequeiros J., Kaplan J., Pandolfo M. Frataxin knockin mouse. FEBS Lett. 2002, 512:291-297.
-
(2002)
FEBS Lett
, vol.512
, pp. 291-297
-
-
Miranda, C.J.1
Santos, M.M.2
Ohshima, K.3
Smith, J.4
Li, L.5
Bunting, M.6
Cossee, M.7
Koenig, M.8
Sequeiros, J.9
Kaplan, J.10
Pandolfo, M.11
-
93
-
-
0030763670
-
Intriguing association between disease associated unstable trinucleotide repeat and CpG island
-
Gourdon G., Dessen P., Lia A.S., Junien C., Hofmann-Radvanyi H. Intriguing association between disease associated unstable trinucleotide repeat and CpG island. Ann. Genet. 1997, 40:73-77.
-
(1997)
Ann. Genet
, vol.40
, pp. 73-77
-
-
Gourdon, G.1
Dessen, P.2
Lia, A.S.3
Junien, C.4
Hofmann-Radvanyi, H.5
-
94
-
-
0032971232
-
Cis-acting modifiers of expanded CAG CTG triplet repeat expandability: Associations with flanking GC content and proximity to CpG islands
-
Brock G.J., Anderson N.H., 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. 1999, 8:1061-1067.
-
(1999)
Hum. Mol. Genet
, vol.8
, pp. 1061-1067
-
-
Brock, G.J.1
Anderson, N.H.2
Monckton, D.G.3
-
95
-
-
0034639711
-
Dramatic, expansion-biased, agedependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability
-
Fortune M.T., Vassilopoulos C., Coolbaugh M.I., Siciliano M.J., Monckton D.G. Dramatic, expansion-biased, agedependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability. Hum. Mol. Genet. 2000, 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
-
96
-
-
0036538560
-
Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm
-
Zhang Y., Monckton D.G., Siciliano M.J., Connor T.H., Meistrich M.L. Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm. Hum. Mol. Genet. 2002, 11:791-798.
-
(2002)
Hum. Mol. Genet
, vol.11
, pp. 791-798
-
-
Zhang, Y.1
Monckton, D.G.2
Siciliano, M.J.3
Connor, T.H.4
Meistrich, M.L.5
-
97
-
-
0032907359
-
Transgenic mice harboring a fulllength human mutant DRPLA gene exhibit age-dependent inter-generational 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., Katsuki M., Tsuji S. Transgenic mice harboring a fulllength human mutant DRPLA gene exhibit age-dependent inter-generational and somatic instabilities of CAG repeats comparable with those in DRPLA patients. Hum. Mol. Genet. 1999, 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
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
Katsuki, M.26
Tsuji, S.27
more..
-
98
-
-
0036578758
-
Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells
-
Cleary J.D., Nichol K., Wang Y.H., Pearson C.E. Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells. Nat. Genet. 2002, 31:37-46.
-
(2002)
Nat. Genet
, vol.31
, pp. 37-46
-
-
Cleary, J.D.1
Nichol, K.2
Wang, Y.H.3
Pearson, C.E.4
-
99
-
-
0027023516
-
Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy
-
La Spada A.R., Roling D.B., Harding A.E., Warner C.L., Spiegel R., Hausmanowa-Petrusewicz I., Yee W.C., Fischbeck K.H. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nat. Genet. 1992, 2:301-304.
-
(1992)
Nat. Genet
, vol.2
, pp. 301-304
-
-
la Spada, A.R.1
Roling, D.B.2
Harding, A.E.3
Warner, C.L.4
Spiegel, R.5
Hausmanowa-Petrusewicz, I.6
Yee, W.C.7
Fischbeck, K.H.8
-
100
-
-
0042329754
-
Structure, function and evolution of CpG island promoters
-
Antequera F. Structure, function and evolution of CpG island promoters. Cell. Mol. Life Sci. 2003, 60:1647-1658.
-
(2003)
Cell. Mol. Life Sci
, vol.60
, pp. 1647-1658
-
-
Antequera, F.1
-
101
-
-
2642647114
-
Initiation of DNA replication at CpG islands in mammalian chromosomes
-
Delgado S., Gomez M., Bird A., Antequera F. Initiation of DNA replication at CpG islands in mammalian chromosomes. EMBO J. 1998, 17:2426-2435.
-
(1998)
EMBO J
, vol.17
, pp. 2426-2435
-
-
Delgado, S.1
Gomez, M.2
Bird, A.3
Antequera, F.4
-
102
-
-
0034674058
-
Length of CTA. CAG repeats determines the influence of mismatch repair on genetic instability
-
Parniewski P., Jaworski A., Wells R.D., Bowater R.P. Length of CTA. CAG repeats determines the influence of mismatch repair on genetic instability. J. Mol. Biol 2000, 299:865-874.
-
(2000)
J. Mol. Biol
, vol.299
, pp. 865-874
-
-
Parniewski, P.1
Jaworski, A.2
Wells, R.D.3
Bowater, R.P.4
-
103
-
-
0032779262
-
The effect of DNA replication mutations on CAG tract stability in yeast
-
Schweitzer J.K., Livingston D.M. The effect of DNA replication mutations on CAG tract stability in yeast. Genetics 1999, 152:953-963.
-
(1999)
Genetics
, vol.152
, pp. 953-963
-
-
Schweitzer, J.K.1
Livingston, D.M.2
-
104
-
-
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., Richards C.S. Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring. Neurology 1994, 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
-
105
-
-
0028242797
-
Simple repeat DNA is not replicated simply
-
Richards R.I., Sutherland G.R. Simple repeat DNA is not replicated simply. Nat. Genet. 1994, 6:114-116.
-
(1994)
Nat. Genet
, vol.6
, pp. 114-116
-
-
Richards, R.I.1
Sutherland, G.R.2
-
106
-
-
3042810192
-
Chemically induced increases and decreases in the rate of expansion of a CAG CTG triplet repeat
-
Gomes-Pereira M., Monckton D.G. Chemically induced increases and decreases in the rate of expansion of a CAG CTG triplet repeat. Nucleic Acids Res. 2004, 32:2865-2872.
-
(2004)
Nucleic Acids Res
, vol.32
, pp. 2865-2872
-
-
Gomes-Pereira, M.1
Monckton, D.G.2
-
107
-
-
0036198664
-
DNA mismatch repair and mutation avoidance pathways
-
Marti T.M., Kunz C., Fleck O. DNA mismatch repair and mutation avoidance pathways. J. Cell. Physiol. 2002, 191:28-41.
-
(2002)
J. Cell. Physiol
, vol.191
, pp. 28-41
-
-
Marti, T.M.1
Kunz, C.2
Fleck, O.3
-
108
-
-
0035054387
-
Deficient DNA mismatch repair: A common etiologic factor for colon cancer
-
Peltomaki P. Deficient DNA mismatch repair: A common etiologic factor for colon cancer. Hum. Mol. Genet. 2001, 10:735-740.
-
(2001)
Hum. Mol. Genet
, vol.10
, pp. 735-740
-
-
Peltomaki, P.1
-
109
-
-
0032708840
-
Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice
-
Manley K., Shirley T.L., Flaherty L., Messer A. Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nat. Genet. 1999, 23:471-473.
-
(1999)
Nat. Genet
, vol.23
, pp. 471-473
-
-
Manley, K.1
Shirley, T.L.2
Flaherty, L.3
Messer, A.4
-
110
-
-
0034326903
-
Gender of the embryo contributes to CAG instability in transgenic mice containing a Huntington's diseage gene
-
Kovtun I.V., Therneau T.M., McMurray C.T. Gender of the embryo contributes to CAG instability in transgenic mice containing a Huntington's diseage gene. Hum. Mol. Genet. 2000, 9:2767-2775.
-
(2000)
Hum. Mol. Genet
, vol.9
, pp. 2767-2775
-
-
Kovtun, I.V.1
Therneau, T.M.2
McMurray, C.T.3
-
111
-
-
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., MacDonald M.E. Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Hum. Mol. Genet. 2003, 12:273-281.
-
(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
-
112
-
-
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., Gourdon G. CTG repeat instability and size variation timing in DNA repair-deficient mice. EMBO J. 2003, 22:2264-2273.
-
(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
-
113
-
-
0035065524
-
Trinucleotide expansion in haploid germ cells by gap repair
-
Kovtun I.V., McMurray C.T. Trinucleotide expansion in haploid germ cells by gap repair. Nat. Genet. 2001, 27:407-411.
-
(2001)
Nat. Genet
, vol.27
, pp. 407-411
-
-
Kovtun, I.V.1
McMurray, C.T.2
-
114
-
-
0030752987
-
Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases
-
Pearson C.E., Ewel A., Acharya S., Fishel R.A., Sinden R.R. Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases. Hum. Mol. Genet. 1997, 6:1117-1123.
-
(1997)
Hum. Mol. Genet
, vol.6
, pp. 1117-1123
-
-
Pearson, C.E.1
Ewel, A.2
Acharya, S.3
Fishel, R.A.4
Sinden, R.R.5
-
115
-
-
4444323468
-
Pms2 is a genetic enhancer of trinucleotide CAG CTG repeat somatic mosaicism: Implications for the mechnnism of triplet repeat expansion
-
Gomes-Pereira M., Fortune M.T., Ingram L., McAbney J.P., Monckton D.G. Pms2 is a genetic enhancer of trinucleotide CAG CTG repeat somatic mosaicism: Implications for the mechnnism of triplet repeat expansion. Hum. Mol. Genet. 2004, 13:1815-1825.
-
(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
-
116
-
-
0033551777
-
Genetic instabilities in (CTG CAG) repeats occur by recombination
-
Jakupciak J.P., Wells R.D. Genetic instabilities in (CTG CAG) repeats occur by recombination. J. Biol. Chem. 1999, 274:23468-23479.
-
(1999)
J. Biol. Chem
, vol.274
, pp. 23468-23479
-
-
Jakupciak, J.P.1
Wells, R.D.2
-
117
-
-
0034704123
-
Gene conversion (recombination) mediates expansions of CTG CAG repeats
-
Jakupciak J.P., Wells R.D. Gene conversion (recombination) mediates expansions of CTG CAG repeats. J. Biol. Chem. 2000, 275:40003-40013.
-
(2000)
J. Biol. Chem
, vol.275
, pp. 40003-40013
-
-
Jakupciak, J.P.1
Wells, R.D.2
-
118
-
-
0034102420
-
Meiotic instability of CAG repeat tracts occurs by double-strand break repair in yeast
-
Jankowski C., Nasar F., Nag D.K. Meiotic instability of CAG repeat tracts occurs by double-strand break repair in yeast. Proc. Natl. Acad. Sci. USA 2000, 97:2134-2139.
-
(2000)
Proc. Natl. Acad. Sci. USA
, vol.97
, pp. 2134-2139
-
-
Jankowski, C.1
Nasar, F.2
Nag, D.K.3
-
119
-
-
0034658187
-
Recombination-induced CAG trinucleotide repeat expansions in yeast involve the MRE11-RAD50-XRS2 complex
-
Richard G.F., Goellner G.M., McMurray C.T., Haber J.E. Recombination-induced CAG trinucleotide repeat expansions in yeast involve the MRE11-RAD50-XRS2 complex. EMBO J. 2000, 19:2381-2390.
-
(2000)
EMBO J
, vol.19
, pp. 2381-2390
-
-
Richard, G.F.1
Goellner, G.M.2
McMurray, C.T.3
Haber, J.E.4
-
120
-
-
0028364565
-
Complex gene conversion events in germline mutation at human minisatellites
-
Jeffreys A.J., Tamaki K., MacLeod A., Monckton D.G., Neil D.L., Armour J.A. Complex gene conversion events in germline mutation at human minisatellites. Nat. Genet. 1994, 6:136-145.
-
(1994)
Nat. 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
-
121
-
-
0032488872
-
Expansion and length-dependent fragility of CTG repeats in yeast
-
Freudenreich C.H., Kantrow S.M., Zakian V.A. Expansion and length-dependent fragility of CTG repeats in yeast. Science 1998, 279:853-856.
-
(1998)
Science
, vol.279
, pp. 853-856
-
-
Freudenreich, C.H.1
Kantrow, S.M.2
Zakian, V.A.3
-
122
-
-
0035289717
-
Chromosomal stability and the DNA double-stranded break connection
-
van Gent D.C., Hoeijmakers J.H., Kannar R. Chromosomal stability and the DNA double-stranded break connection. Nat. Rev. Genet. 2001, 2:196-206.
-
(2001)
Nat. Rev. Genet
, vol.2
, pp. 196-206
-
-
van Gent, D.C.1
Hoeijmakers, J.H.2
Kannar, R.3
-
123
-
-
0038799991
-
Multiple pathways of recombination induced by double-strand breaks in Saccharomyces cerevisiae
-
Paques F., Haber J.E. Multiple pathways of recombination induced by double-strand breaks in Saccharomyces cerevisiae. Microbiol. Mol. Biol. Rev. 1999, 63:349-404.
-
(1999)
Microbiol. Mol. Biol. Rev
, vol.63
, pp. 349-404
-
-
Paques, F.1
Haber, J.E.2
-
124
-
-
0030834260
-
Role of Saccharomyces cerevisiae Msh2 and Msh3 repair proteins in double-strand break-induced recombination
-
Sugawara N., Paques F., Colaiacovo M., Haber J.E. Role of Saccharomyces cerevisiae Msh2 and Msh3 repair proteins in double-strand break-induced recombination. Proc. Natl. Acad. Sci. USA 1997, 94:9214-9219.
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.94
, pp. 9214-9219
-
-
Sugawara, N.1
Paques, F.2
Colaiacovo, M.3
Haber, J.E.4
-
125
-
-
0034195218
-
Partners and pathways repairing a double-strand break
-
Haber J.E. Partners and pathways repairing a double-strand break. Trends Genet. 2000, 16:259-264.
-
(2000)
Trends Genet
, vol.16
, pp. 259-264
-
-
Haber, J.E.1
-
126
-
-
1542304754
-
CAG repeat lengths in X-and Y-bearing sperm indicate that gender bias during transmission of Huntington's disease gene is determined in the embryo
-
Kovtun I.V., Welch G., Guthrie H.D., Hafner K.L., McMurray C.T. CAG repeat lengths in X-and Y-bearing sperm indicate that gender bias during transmission of Huntington's disease gene is determined in the embryo. J. Biol. Chem. 2004, 279:9389-9391.
-
(2004)
J. Biol. Chem
, vol.279
, pp. 9389-9391
-
-
Kovtun, I.V.1
Welch, G.2
Guthrie, H.D.3
Hafner, K.L.4
McMurray, C.T.5
-
127
-
-
0034045198
-
Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1
-
Martorell L., Monckton D.G., Gamez J., Baiget M. Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1. Eur. J. Hum. Genet. 2000, 8:423-430.
-
(2000)
Eur. J. Hum. Genet
, vol.8
, pp. 423-430
-
-
Martorell, L.1
Monckton, D.G.2
Gamez, J.3
Baiget, M.4
-
128
-
-
0032897901
-
Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism
-
Leeflang E.P., Tavare S., Marjoram P., Neal C.O., Srinidhi J., MacFarlane H., MacDonald M.E., Gusella J.F., de Young M., Wexler N.S., Arnheim N. Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism. Hum. Mol. Genet. 1999, 8:173-183.
-
(1999)
Hum. Mol. Genet
, vol.8
, pp. 173-183
-
-
Leeflang, E.P.1
Tavare, S.2
Marjoram, P.3
Neal, C.O.4
Srinidhi, J.5
MacFarlane, H.6
MacDonald, M.E.7
Gusella, J.F.8
de Young, M.9
Wexler, N.S.10
Arnheim, N.11
-
129
-
-
0346725953
-
MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice
-
Savouret C., Garcia-Cordier C., Megret J., te Riele H., Junien C., Gourdon G. MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice. Mol. Cell. Biol. 2004, 24:629-637.
-
(2004)
Mol. Cell. Biol
, vol.24
, pp. 629-637
-
-
Savouret, C.1
Garcia-Cordier, C.2
Megret, J.3
te Riele, H.4
Junien, C.5
Gourdon, G.6
-
130
-
-
0033557912
-
HMSH5: A human MutS homologue that forms a novel heterodimer with hMSH4 and is expressed during spermatogenesis
-
Bocker T., Barusevicius A., Snowden T., Rasio D., Guerrette S., Robbins D., Schmidt C., Burczak J., Croce C.M., Copeland T., Fishel R. hMSH5: A human MutS homologue that forms a novel heterodimer with hMSH4 and is expressed during spermatogenesis. Cancer Res. 1999, 59:816-822.
-
(1999)
Cancer Res
, vol.59
, pp. 816-822
-
-
Bocker, T.1
Barusevicius, A.2
Snowden, T.3
Rasio, D.4
Guerrette, S.5
Robbins, D.6
Schmidt, C.7
Burczak, J.8
Croce, C.M.9
Copeland, T.10
Fishel, R.11
-
131
-
-
0034004137
-
Expression of deoxyribonucleic acid repair enzymes during spermatogenesis in mice
-
Richardson L.L., Pedigo C., Ann Handel M. Expression of deoxyribonucleic acid repair enzymes during spermatogenesis in mice. Biol. Reprod. 2000, 62:789-796.
-
(2000)
Biol. Reprod
, vol.62
, pp. 789-796
-
-
Richardson, L.L.1
Pedigo, C.2
Ann Handel, M.3
-
132
-
-
0042307369
-
Huntington disease expansion mutations in humans can occur before meiosis is completed
-
Yoon S.R., Dubeau L., de Young M., Wexler N.S., Arnheim N. Huntington disease expansion mutations in humans can occur before meiosis is completed. Proc. Natl. Acad. Sci. USA 2003, 100:8834-8838.
-
(2003)
Proc. Natl. Acad. Sci. USA
, vol.100
, pp. 8834-8838
-
-
Yoon, S.R.1
Dubeau, L.2
de Young, M.3
Wexler, N.S.4
Arnheim, N.5
-
133
-
-
0030915868
-
Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development
-
Martorell L., Johnson K., Boucher C.A., Baiget M. Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development. Hum. Mol. Genet. 1997, 6:877-880.
-
(1997)
Hum. Mol. Genet
, vol.6
, pp. 877-880
-
-
Martorell, L.1
Johnson, K.2
Boucher, C.A.3
Baiget, M.4
-
134
-
-
11044230096
-
Somatic deletion events occur during early embryonic development and modify the extent of CAG expansion in subsequent generations
-
Kovtun I.V., Thornhill A.R., McMurray C.T. Somatic deletion events occur during early embryonic development and modify the extent of CAG expansion in subsequent generations. Hum. Mol. Genet. 2004, 13.
-
(2004)
Hum. Mol. Genet
, vol.13
-
-
Kovtun, I.V.1
Thornhill, A.R.2
McMurray, C.T.3
|