-
1
-
-
77649144557
-
Repeat instability as the basis for human diseases and as a potential target for therapy
-
Lopez Castel, A., Cleary, J.D. and Pearson, C.E. (2010) Repeat instability as the basis for human diseases and as a potential target for therapy. Nat. Rev. Mol. Cell Biol., 11, 165-170.
-
(2010)
Nat. Rev. Mol. Cell Biol.
, vol.11
, pp. 165-170
-
-
Lopez Castel, A.1
Cleary, J.D.2
Pearson, C.E.3
-
2
-
-
25844438495
-
Repeat instability: mechanisms of dynamic mutations
-
Pearson, C.E., Nichol Edamura, K. and Cleary, J.D. (2005) Repeat instability: mechanisms of dynamic mutations. Nat. Rev. Genet., 6, 729-742.
-
(2005)
Nat. Rev. Genet.
, vol.6
, pp. 729-742
-
-
Pearson, C.E.1
Nichol Edamura, K.2
Cleary, J.D.3
-
3
-
-
3042700134
-
Dynamic mutations on the move in Banff
-
La Spada, A.R., Richards, R.I. and Wieringa, B. (2004) Dynamic mutations on the move in Banff. Nat. Genet., 36, 667-670.
-
(2004)
Nat. Genet.
, vol.36
, pp. 667-670
-
-
La Spada, A.R.1
Richards, R.I.2
Wieringa, B.3
-
4
-
-
0042759661
-
The contribution of cis-elements to disease-associated repeat instability: clinical and experimental evidence
-
Cleary, J.D. and Pearson, C.E. (2003) The contribution of cis-elements to disease-associated repeat instability: clinical and experimental evidence. Cytogenet. Genome Res., 100, 25-55.
-
(2003)
Cytogenet. Genome Res.
, vol.100
, pp. 25-55
-
-
Cleary, J.D.1
Pearson, C.E.2
-
5
-
-
0030793199
-
Trinucleotide repeat instability: genetic features and molecular mechanisms
-
La Spada, A.R. (1997) Trinucleotide repeat instability: genetic features and molecular mechanisms. Brain Pathol., 7, 943-963.
-
(1997)
Brain Pathol.
, vol.7
, pp. 943-963
-
-
La Spada, A.R.1
-
6
-
-
77956345129
-
Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus
-
Cleary, J.D., Tome, S., Lopez Castel, A., Panigrahi, G.B., Foiry, L., Hagerman, K.A., Sroka, H., Chitayat, D., Gourdon, G. and Pearson, C.E. (2010) Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus. Nat. Struct. Mol. Biol., 17, 1079-1087.
-
(2010)
Nat. Struct. Mol. Biol.
, vol.17
, pp. 1079-1087
-
-
Cleary, J.D.1
Tome, S.2
Lopez Castel, A.3
Panigrahi, G.B.4
Foiry, L.5
Hagerman, K.A.6
Sroka, H.7
Chitayat, D.8
Gourdon, G.9
Pearson, C.E.10
-
7
-
-
0028339385
-
Somatic and gonadal mosaicism of the Huntington disease geneCAGrepeat 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. (1994) Somatic and gonadal mosaicism of the Huntington disease geneCAGrepeat in brain and sperm. Nat. Genet., 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
-
8
-
-
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. et al. (2001) Age-dependent and tissue-specific CAG repeat instability occurs in mouse knock-in for a mutant Huntington's disease gene. J. Neurosci. Res., 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
-
9
-
-
0030443297
-
Reduction ofCAGexpansions in cerebellar cortex and spinal cord of DRPLA
-
Aoki, M., Abe, K., Tobita, M., Kameya, T., Watanabe, M. and Itoyama, Y. (1996) Reduction ofCAGexpansions in cerebellar cortex and spinal cord of DRPLA. Clin. Genet., 50, 199-201.
-
(1996)
Clin. Genet.
, vol.50
, pp. 199-201
-
-
Aoki, M.1
Abe, K.2
Tobita, M.3
Kameya, T.4
Watanabe, M.5
Itoyama, Y.6
-
10
-
-
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. (1995) Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nat. Genet., 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
-
11
-
-
0030936576
-
Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and spinocerebellar ataxia type 1
-
Hashida, H., Goto, J., Kurisaki, H., Mizusawa, H. and Kanazawa, I. (1997) Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and spinocerebellar ataxia type 1. Ann. Neurol., 41, 505-511.
-
(1997)
Ann. Neurol.
, vol.41
, pp. 505-511
-
-
Hashida, H.1
Goto, J.2
Kurisaki, H.3
Mizusawa, H.4
Kanazawa, I.5
-
12
-
-
9444262436
-
Somatic mosaicismin the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease
-
Lopes-Cendes, I., Maciel, P., Kish, S., Gaspar, C., Robitaille, Y., Clark, H.B., Koeppen, A.H., Nance, M., Schut, L., Silveira, I. et al. (1996) Somatic mosaicismin the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease. Ann. Neurol., 40, 199-206.
-
(1996)
Ann. Neurol.
, vol.40
, pp. 199-206
-
-
Lopes-Cendes, I.1
Maciel, P.2
Kish, S.3
Gaspar, C.4
Robitaille, Y.5
Clark, H.B.6
Koeppen, A.H.7
Nance, M.8
Schut, L.9
Silveira, I.10
-
13
-
-
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. et al. (1996) 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, 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
-
14
-
-
0028916306
-
Hum
-
Ueno, S., Kondoh, K., Kotani, Y., Komure, O., Kuno, S., Kawai, J., Hazama, F. and Sano, A. (1995) Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA). Hum. Mol. Genet., 4, 663-666.
-
(1995)
Mol. Genet.
, vol.4
, pp. 663-666
-
-
Ueno, S.1
Kondoh, K.2
Kotani, Y.3
Komure, O.4
Kuno, S.5
Kawai, J.6
Hazama, F.7
Sano, A.8
-
15
-
-
12244311838
-
Genomic context drives SCA7CAGrepeat 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. et al. (2003) Genomic context drives SCA7CAGrepeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice. Hum. Mol. Genet., 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
-
16
-
-
0031056685
-
Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation
-
Mangiarini, L., Sathasivam, K., Mahal, A., Mott, R., Seller, M. and Bates, G.P. (1997) Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation. Nat. Genet., 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
-
17
-
-
0032708840
-
Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice
-
Manley, K., Shirley, T.L., Flaherty, L. and Messer, A. (1999) Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nat. Genet., 23, 471-473.
-
(1999)
Nat. Genet.
, vol.23
, pp. 471-473
-
-
Manley, K.1
Shirley, T.L.2
Flaherty, L.3
Messer, A.4
-
18
-
-
0035475642
-
Dynamic mutations: a decade of unstable expanded repeats in human genetic disease
-
Richards, R.I. (2001) Dynamic mutations: a decade of unstable expanded repeats in human genetic disease. Hum. Mol. Genet., 10, 2187-2194.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2187-2194
-
-
Richards, R.I.1
-
19
-
-
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. (2003) 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, 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
-
20
-
-
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. (2000) Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease? Hum. Mol. Genet., 9, 2539-2544.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2539-2544
-
-
Kennedy, L.1
Shelbourne, P.F.2
-
21
-
-
35348877164
-
Transcriptional signatures in Huntington's disease
-
Cha, J.H. (2007) Transcriptional signatures in Huntington's disease. Prog. Neurobiol., 83, 228-248.
-
(2007)
Prog. Neurobiol.
, vol.83
, pp. 228-248
-
-
Cha, J.H.1
-
22
-
-
33644783812
-
Regional and cellular gene expression changes in human Huntington's disease brain
-
Hodges, A., Strand, A.D., Aragaki, A.K., Kuhn, A., Sengstag, T., Hughes, G., Elliston, L.A., Hartog, C., Goldstein, D.R., Thu, D. et al. (2006) Regional and cellular gene expression changes in human Huntington's disease brain. Hum. Mol. Genet., 15, 965-977.
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 965-977
-
-
Hodges, A.1
Strand, A.D.2
Aragaki, A.K.3
Kuhn, A.4
Sengstag, T.5
Hughes, G.6
Elliston, L.A.7
Hartog, C.8
Goldstein, D.R.9
Thu, D.10
-
23
-
-
0034702030
-
Decreased expression of striatal signaling genes in a mouse model of Huntington's disease
-
Luthi-Carter, R., Strand, A., Peters, N.L., Solano, S.M., Hollingsworth, Z.R., Menon, A.S., Frey, A.S., Spektor, B.S., Penney, E.B., Schilling, G. et al. (2000) Decreased expression of striatal signaling genes in a mouse model of Huntington's disease. Hum. Mol. Genet., 9, 1259-1271.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1259-1271
-
-
Luthi-Carter, R.1
Strand, A.2
Peters, N.L.3
Solano, S.M.4
Hollingsworth, Z.R.5
Menon, A.S.6
Frey, A.S.7
Spektor, B.S.8
Penney, E.B.9
Schilling, G.10
-
24
-
-
0037101837
-
Polyglutamine and transcription: gene expression changes shared by DRPLA and Huntington's disease mouse models reveal context-independent effects
-
Luthi-Carter, R., Strand, A.D., Hanson, S.A., Kooperberg, C., Schilling, G., La Spada, A.R., Merry, D.E., Young, A.B., Ross, C.A., Borchelt, D.R. et al. (2002) Polyglutamine and transcription: gene expression changes shared by DRPLA and Huntington's disease mouse models reveal context-independent effects. Hum. Mol. Genet., 11, 1927-1937.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 1927-1937
-
-
Luthi-Carter, R.1
Strand, A.D.2
Hanson, S.A.3
Kooperberg, C.4
Schilling, G.5
La Spada, A.R.6
Merry, D.E.7
Young, A.B.8
Ross, C.A.9
Borchelt, D.R.10
-
25
-
-
33846252240
-
Genome-wide atlas of gene expression in the adult mouse brain
-
Lein, E.S., Hawrylycz, M.J., Ao, N., Ayres, M., Bensinger, A., Bernard, A., Boe, A.F., Boguski, M.S., Brockway, K.S., Byrnes, E.J. et al. (2007) Genome-wide atlas of gene expression in the adult mouse brain. Nature, 445, 168-176.
-
(2007)
Nature
, vol.445
, pp. 168-176
-
-
Lein, E.S.1
Hawrylycz, M.J.2
Ao, N.3
Ayres, M.4
Bensinger, A.5
Bernard, A.6
Boe, A.F.7
Boguski, M.S.8
Brockway, K.S.9
Byrnes, E.J.10
-
26
-
-
0037316303
-
A comparison of normalization methods for high density oligonucleotide array data based on variance and bias
-
Bolstad, B.M., Irizarry, R.A., Astrand, M. and Speed, T.P. (2003) A comparison of normalization methods for high density oligonucleotide array data based on variance and bias. Bioinformatics, 19, 185-193.
-
(2003)
Bioinformatics
, vol.19
, pp. 185-193
-
-
Bolstad, B.M.1
Irizarry, R.A.2
Astrand, M.3
Speed, T.P.4
-
27
-
-
12344280017
-
Summaries of Affymetrix GeneChip probe level data
-
Irizarry, R.A., Bolstad, B.M., Collin, F., Cope, L.M., Hobbs, B. and Speed, T.P. (2003) Summaries of Affymetrix GeneChip probe level data. Nucleic Acids Res., 31, e15.
-
(2003)
Nucleic Acids Res.
, vol.31
-
-
Irizarry, R.A.1
Bolstad, B.M.2
Collin, F.3
Cope, L.M.4
Hobbs, B.5
Speed, T.P.6
-
28
-
-
0142121516
-
Exploration, normalization, and summaries of high density oligonucleotide array probe level data
-
Irizarry, R.A., Hobbs, B., Collin, F., Beazer-Barclay, Y.D., Antonellis, K.J., Scherf, U. and Speed, T.P. (2003) Exploration, normalization, and summaries of high density oligonucleotide array probe level data. Biostatistics, 4, 249-264.
-
(2003)
Biostatistics
, vol.4
, pp. 249-264
-
-
Irizarry, R.A.1
Hobbs, B.2
Collin, F.3
Beazer-Barclay, Y.D.4
Antonellis, K.J.5
Scherf, U.6
Speed, T.P.7
-
29
-
-
61449172037
-
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
-
Huang da, W., Sherman, B.T. and Lempicki, R.A. (2009) Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat. Protoc., 4, 44-57.
-
(2009)
Nat. Protoc.
, vol.4
, pp. 44-57
-
-
Huang da, W.1
Sherman, B.T.2
Lempicki, R.A.3
-
30
-
-
58549112996
-
Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists
-
Huang da, W., Sherman, B.T. and Lempicki, R.A. (2009) Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists. Nucleic Acids Res., 37, 1-13.
-
(2009)
Nucleic Acids Res.
, vol.37
, pp. 1-13
-
-
Huang da, W.1
Sherman, B.T.2
Lempicki, R.A.3
-
31
-
-
0033982936
-
KEGG: kyoto encyclopedia of genes and genomes
-
Kanehisa, M. and Goto, S. (2000) KEGG: kyoto encyclopedia of genes and genomes. Nucleic Acids Res., 28, 27-30.
-
(2000)
Nucleic Acids Res.
, vol.28
, pp. 27-30
-
-
Kanehisa, M.1
Goto, S.2
-
32
-
-
84858983547
-
KEGG for integration and interpretation of large-scale molecular data sets
-
Kanehisa, M., Goto, S., Sato, Y., Furumichi, M. and Tanabe, M. (2012) KEGG for integration and interpretation of large-scale molecular data sets. Nucleic Acids Res., 40, D109-D114.
-
(2012)
Nucleic Acids Res.
, vol.40
-
-
Kanehisa, M.1
Goto, S.2
Sato, Y.3
Furumichi, M.4
Tanabe, M.5
-
33
-
-
84862890783
-
Instability of (CTG)n*(CAG)n trinucleotide repeats and DNA synthesis
-
Liu, G. and Leffak, M. (2012) Instability of (CTG)n*(CAG)n trinucleotide repeats and DNA synthesis. Cell Biosci., 2, 7.
-
(2012)
Cell Biosci.
, vol.2
, pp. 7
-
-
Liu, G.1
Leffak, M.2
-
34
-
-
34250878426
-
Expandable DNA repeats and human disease
-
Mirkin, S.M. (2007) Expandable DNA repeats and human disease. Nature, 447, 932-940.
-
(2007)
Nature
, vol.447
, pp. 932-940
-
-
Mirkin, S.M.1
-
35
-
-
49949152022
-
Mutagenic roles of DNA "repair" proteins in antibody diversity and disease-associated trinucleotide repeat instability
-
Slean, M.M., Panigrahi, G.B., Ranum, L.P. and Pearson, C.E. (2008) Mutagenic roles of DNA "repair" proteins in antibody diversity and disease-associated trinucleotide repeat instability. DNA Repair (Amst), 7, 1135-1154.
-
(2008)
DNA Repair (Amst)
, vol.7
, pp. 1135-1154
-
-
Slean, M.M.1
Panigrahi, G.B.2
Ranum, L.P.3
Pearson, C.E.4
-
36
-
-
0242718930
-
Trinucleotide repeat instability: a hairpin curve at the crossroads of replication, recombination, and repair
-
Lenzmeier, B.A. and Freudenreich, C.H. (2003) Trinucleotide repeat instability: a hairpin curve at the crossroads of replication, recombination, and repair. Cytogenet. Genome Res., 100, 7-24.
-
(2003)
Cytogenet. Genome Res.
, vol.100
, pp. 7-24
-
-
Lenzmeier, B.A.1
Freudenreich, C.H.2
-
37
-
-
78651324347
-
The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored
-
Szklarczyk, D., Franceschini, A., Kuhn, M., Simonovic, M., Roth, A., Minguez, P., Doerks, T., Stark, M., Muller, J., Bork, P. et al. (2011) The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored. Nucleic Acids Res., 39, D561-D568.
-
(2011)
Nucleic Acids Res.
, vol.39
-
-
Szklarczyk, D.1
Franceschini, A.2
Kuhn, M.3
Simonovic, M.4
Roth, A.5
Minguez, P.6
Doerks, T.7
Stark, M.8
Muller, J.9
Bork, P.10
-
38
-
-
0028834086
-
Oligonucleotides with fluorescent dyes at opposite ends provide a quenched probe system useful for detecting PCR product and nucleic acid hybridization
-
Livak, K.J., Flood, S.J., Marmaro, J., Giusti, W. and Deetz, K. (1995) Oligonucleotides with fluorescent dyes at opposite ends provide a quenched probe system useful for detecting PCR product and nucleic acid hybridization. PCR Methods Appl., 4, 357-362.
-
(1995)
PCR Methods Appl.
, vol.4
, pp. 357-362
-
-
Livak, K.J.1
Flood, S.J.2
Marmaro, J.3
Giusti, W.4
Deetz, K.5
-
39
-
-
77955439716
-
Isolated short CTG/CAG DNA slip-outs are repaired efficiently by hMutSbeta, but clustered slip-outs are poorly repaired
-
Panigrahi, G.B., Slean, M.M., Simard, J.P., Gileadi, O. and Pearson, C.E. (2010) Isolated short CTG/CAG DNA slip-outs are repaired efficiently by hMutSbeta, but clustered slip-outs are poorly repaired. Proc. Natl Acad. Sci. USA, 107, 12593-12598.
-
(2010)
Proc. Natl Acad. Sci. USA
, vol.107
, pp. 12593-12598
-
-
Panigrahi, G.B.1
Slean, M.M.2
Simard, J.P.3
Gileadi, O.4
Pearson, C.E.5
-
40
-
-
79956016292
-
Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation
-
Seriola, A., Spits, C., Simard, J.P., Hilven, P., Haentjens, P., Pearson, C.E. and Sermon, K. (2011) Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation. Hum. Mol. Genet., 20, 176-185.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 176-185
-
-
Seriola, A.1
Spits, C.2
Simard, J.P.3
Hilven, P.4
Haentjens, P.5
Pearson, C.E.6
Sermon, K.7
-
41
-
-
84871712940
-
Tissue-specific mismatch repair protein expression: MSH3 is higher than MSH6 in multiple mouse tissues
-
Tome, S., Simard, J.P., Slean, M.M., Holt, I., Morris, G.E., Wojciechowicz, K., te Riele, H. and Pearson, C.E. (2013) Tissue-specific mismatch repair protein expression: MSH3 is higher than MSH6 in multiple mouse tissues. DNA Repair (Amst), 12, 46-52.
-
(2013)
DNA Repair (Amst)
, vol.12
, pp. 46-52
-
-
Tome, S.1
Simard, J.P.2
Slean, M.M.3
Holt, I.4
Morris, G.E.5
Wojciechowicz, K.6
te Riele, H.7
Pearson, C.E.8
-
42
-
-
79956016292
-
Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation
-
Seriola, A., Spits, C., Simard, J.P., Hilven, P., Haentjens, P., Pearson, C.E. and Sermon, K. (2011) Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation. Hum. Mol. Genet., 20, 176-185.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 176-185
-
-
Seriola, A.1
Spits, C.2
Simard, J.P.3
Hilven, P.4
Haentjens, P.5
Pearson, C.E.6
Sermon, K.7
-
43
-
-
0033895728
-
The impact of lagging strand replication mutations on the stability of CAG repeat tracts in yeast
-
Ireland, M.J., Reinke, S.S. and Livingston, D.M. (2000) The impact of lagging strand replication mutations on the stability of CAG repeat tracts in yeast. Genetics, 155, 1657-1665.
-
(2000)
Genetics
, vol.155
, pp. 1657-1665
-
-
Ireland, M.J.1
Reinke, S.S.2
Livingston, D.M.3
-
44
-
-
0034674476
-
Base stacking and even/odd behavior of hairpin loops in DNA triplet repeat slippage and expansion with DNA polymerase
-
Hartenstine, M.J., Goodman, M.F. and Petruska, J. (2000) Base stacking and even/odd behavior of hairpin loops in DNA triplet repeat slippage and expansion with DNA polymerase. J. Biol. Chem., 275, 18382-18390.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 18382-18390
-
-
Hartenstine, M.J.1
Goodman, M.F.2
Petruska, J.3
-
45
-
-
0025109103
-
Misalignment-mediated DNA synthesis errors
-
Kunkel, T.A. (1990) Misalignment-mediated DNA synthesis errors. Biochemistry, 29, 8003-8011.
-
(1990)
Biochemistry
, vol.29
, pp. 8003-8011
-
-
Kunkel, T.A.1
-
46
-
-
0027205395
-
Nucleotide repeats. Slippery DNA and diseases
-
Kunkel, T.A. (1993) Nucleotide repeats. Slippery DNA and diseases. Nature, 365, 207-208.
-
(1993)
Nature
, vol.365
, pp. 207-208
-
-
Kunkel, T.A.1
-
47
-
-
0032779262
-
The effect ofDNAreplication mutations on CAG tract stability in yeast
-
Schweitzer, J.K. and Livingston, D.M. (1999) The effect ofDNAreplication mutations on CAG tract stability in yeast. Genetics, 152, 953-963.
-
(1999)
Genetics
, vol.152
, pp. 953-963
-
-
Schweitzer, J.K.1
Livingston, D.M.2
-
48
-
-
76249098186
-
R loops stimulate genetic instability of CTG. CAG repeats
-
Lin, Y., Dent, S.Y., Wilson, J.H., Wells, R.D. and Napierala, M. (2010) R loops stimulate genetic instability of CTG. CAG repeats. Proc. Natl Acad. Sci. USA, 107, 692-697.
-
(2010)
Proc. Natl Acad. Sci. USA
, vol.107
, pp. 692-697
-
-
Lin, Y.1
Dent, S.Y.2
Wilson, J.H.3
Wells, R.D.4
Napierala, M.5
-
49
-
-
78651099242
-
Bidirectional transcription stimulates expansion and contraction of expanded (CTG)*(CAG) repeats
-
Nakamori, M., Pearson, C.E. and Thornton, C.A. (2011) Bidirectional transcription stimulates expansion and contraction of expanded (CTG)*(CAG) repeats. Hum. Mol. Genet., 20, 580-588.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 580-588
-
-
Nakamori, M.1
Pearson, C.E.2
Thornton, C.A.3
-
50
-
-
78651061861
-
Determinants of R-loop formation at convergent bidirectionally transcribed trinucleotide repeats
-
Reddy, K., Tam, M., Bowater, R.P., Barber, M., Tomlinson, M., Nichol Edamura, K., Wang, Y.H. and Pearson, C.E. (2011) Determinants of R-loop formation at convergent bidirectionally transcribed trinucleotide repeats. Nucleic Acids Res., 39, 1749-1762.
-
(2011)
Nucleic Acids Res.
, vol.39
, pp. 1749-1762
-
-
Reddy, K.1
Tam, M.2
Bowater, R.P.3
Barber, M.4
Tomlinson, M.5
Nichol Edamura, K.6
Wang, Y.H.7
Pearson, C.E.8
-
51
-
-
42149156593
-
DNA instability in postmitotic neurons
-
Gonitel, R., Moffitt, H., Sathasivam, K., Woodman, B., Detloff, P.J., Faull, R.L. and Bates, G.P. (2008) DNA instability in postmitotic neurons. Proc. Natl Acad. Sci. USA, 105, 3467-3472.
-
(2008)
Proc. Natl Acad. Sci. USA
, vol.105
, pp. 3467-3472
-
-
Gonitel, R.1
Moffitt, H.2
Sathasivam, K.3
Woodman, B.4
Detloff, P.J.5
Faull, R.L.6
Bates, G.P.7
-
52
-
-
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. (2000) Length of CTG. CAG repeats determines the influence of mismatch repair on genetic instability. J. Mol. Biol., 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
-
53
-
-
33744944261
-
Non-BDNAstructure-induced genetic instability
-
Wang, G. and Vasquez, K.M. (2006) Non-BDNAstructure-induced genetic instability. Mutat. Res., 598, 103-119.
-
(2006)
Mutat. Res.
, vol.598
, pp. 103-119
-
-
Wang, G.1
Vasquez, K.M.2
-
54
-
-
65249130164
-
Models for chromosomal replication-independent non-B DNA structure-induced genetic instability
-
Wang, G. and Vasquez, K.M. (2009) Models for chromosomal replication-independent non-B DNA structure-induced genetic instability. Mol. Carcinog., 48, 286-298.
-
(2009)
Mol. Carcinog.
, vol.48
, pp. 286-298
-
-
Wang, G.1
Vasquez, K.M.2
-
55
-
-
57449091694
-
Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes
-
Dragileva, E., Hendricks, A., Teed, A., Gillis, T., Lopez, E.T., Friedberg, E.C., Kucherlapati, R., Edelmann, W., Lunetta, K.L., MacDonald, M.E. et al. (2009) Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes. Neurobiol. Dis., 33, 37-47.
-
(2009)
Neurobiol. Dis.
, vol.33
, pp. 37-47
-
-
Dragileva, E.1
Hendricks, A.2
Teed, A.3
Gillis, T.4
Lopez, E.T.5
Friedberg, E.C.6
Kucherlapati, R.7
Edelmann, W.8
Lunetta, K.L.9
MacDonald, M.E.10
-
56
-
-
33646168124
-
Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice
-
Foiry, L., Dong, L., Savouret, C., Hubert, L., te Riele, H., Junien, C. and Gourdon, G. (2006) Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice. Hum. Genet., 119, 520-526.
-
(2006)
Hum. Genet.
, vol.119
, pp. 520-526
-
-
Foiry, L.1
Dong, L.2
Savouret, C.3
Hubert, L.4
te Riele, H.5
Junien, C.6
Gourdon, G.7
-
57
-
-
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. (2004) Pms2 is a genetic enhancer of trinucleotide CAG. CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion. Hum. Mol. Genet., 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
-
58
-
-
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. and McMurray, C.T. (2004) Somatic deletion events occur during early embryonic development and modify the extent of CAG expansion in subsequent generations. Hum. Mol. Genet., 13, 3057-3068.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 3057-3068
-
-
Kovtun, I.V.1
Thornhill, A.R.2
McMurray, C.T.3
-
59
-
-
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. (2003)CTG Repeat instability and size variation timing in DNA repair-deficient mice. EMBO J., 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
-
60
-
-
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. and Gourdon, G. (2004) MSH2-dependent Germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice. Mol. Cell. Biol., 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
-
61
-
-
67149083322
-
MSH 2ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice
-
Tome, S., Holt, I., Edelmann, W., Morris, G.E., Munnich, A., Pearson, C.E. and Gourdon, G. (2009) MSH 2ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice. PLoS Genet., 5, e1000482.
-
(2009)
PLoS Genet.
, vol.5
-
-
Tome, S.1
Holt, I.2
Edelmann, W.3
Morris, G.E.4
Munnich, A.5
Pearson, C.E.6
Gourdon, G.7
-
62
-
-
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. and Wieringa, B. (2002) 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., 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
-
63
-
-
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. (2003) Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Hum. Mol. Genet., 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
-
64
-
-
84866056680
-
Msh2 acts in medium-spiny striatal neurons as an enhancer of CAG instability and mutant huntingtin phenotypes in Huntington's disease knock-In mice
-
Kovalenko, M., Dragileva, E., St Claire, J., Gillis, T., Guide, J.R., New, J., Dong, H., Kucherlapati, R., Kucherlapati, M.H., Ehrlich, M.E. et al. (2012) Msh2 acts in medium-spiny striatal neurons as an enhancer of CAG instability and mutant huntingtin phenotypes in Huntington's disease knock-In mice. PLoS One, 7, e44273.
-
(2012)
PLoS One
, vol.7
-
-
Kovalenko, M.1
Dragileva, E.2
St Claire, J.3
Gillis, T.4
Guide, J.R.5
New, J.6
Dong, H.7
Kucherlapati, R.8
Kucherlapati, M.H.9
Ehrlich, M.E.10
-
65
-
-
77952255626
-
A novel approach to investigate tissue-specific trinucleotide repeat instability
-
Lee, J.M., Zhang, J., Su, A.I., Walker, J.R., Wiltshire, T., Kang, K., Dragileva, E., Gillis, T., Lopez, E.T., Boily, M.J. et al. (2010) A novel approach to investigate tissue-specific trinucleotide repeat instability. BMC Syst. Biol., 4, 29.
-
(2010)
BMC Syst. Biol.
, vol.4
, pp. 29
-
-
Lee, J.M.1
Zhang, J.2
Su, A.I.3
Walker, J.R.4
Wiltshire, T.5
Kang, K.6
Dragileva, E.7
Gillis, T.8
Lopez, E.T.9
Boily, M.J.10
-
66
-
-
74249102052
-
Stoichiometry of base excision repair proteins correlates with increased somatic CAG instability in striatum over cerebellum in Huntington's disease transgenic mice
-
Goula, A.V., Berquist, B.R., Wilson, D.M. III, Wheeler, V.C., Trottier, Y. and Merienne, K. (2009) Stoichiometry of base excision repair proteins correlates with increased somatic CAG instability in striatum over cerebellum in Huntington's disease transgenic mice. PLoS Genet., 5, e1000749.
-
(2009)
PLoS Genet.
, vol.5
-
-
Goula, A.V.1
Berquist, B.R.2
Wilson III, D.M.3
Wheeler, V.C.4
Trottier, Y.5
Merienne, K.6
-
67
-
-
84860745933
-
The nucleotide sequence, DNA damage location, and protein stoichiometry influence the base excision repair outcome at CAG/CTG repeats
-
Goula, A.V., Pearson, C.E., Della Maria, J., Trottier, Y., Tomkinson, A.E., Wilson, D.M. III and Merienne, K. (2012) The nucleotide sequence, DNA damage location, and protein stoichiometry influence the base excision repair outcome at CAG/CTG repeats. Biochemistry, 51, 3919-3932.
-
(2012)
Biochemistry
, vol.51
, pp. 3919-3932
-
-
Goula, A.V.1
Pearson, C.E.2
Della Maria, J.3
Trottier, Y.4
Tomkinson, A.E.5
Wilson III, D.M.6
Merienne, K.7
-
68
-
-
81855206487
-
Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1
-
Hubert, L. Jr, Lin, Y., Dion, V. and Wilson, J.H. (2011) Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1. Hum. Mol. Genet., 20, 4822-4830.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 4822-4830
-
-
Hubert Jr., L.1
Lin, Y.2
Dion, V.3
Wilson, J.H.4
-
69
-
-
70350374346
-
CTG/CAG repeat instability is modulated by the levels of human DNA ligase I and its interaction with proliferating cell nuclear antigen: a distinction between replication and slipped-DNA repair
-
Lopez Castel, A., Tomkinson, A.E. and Pearson, C.E. (2009) CTG/CAG repeat instability is modulated by the levels of human DNA ligase I and its interaction with proliferating cell nuclear antigen: a distinction between replication and slipped-DNA repair. J. Biol. Chem., 284, 26631-26645.
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 26631-26645
-
-
Lopez Castel, A.1
Tomkinson, A.E.2
Pearson, C.E.3
-
70
-
-
34047261259
-
Haploinsufficiency of yeast FEN1 causes instability of expanded CAG/CTG tracts in a length-dependent manner
-
Yang, J. and Freudenreich, C.H. (2007) Haploinsufficiency of yeast FEN1 causes instability of expanded CAG/CTG tracts in a length-dependent manner. Gene, 393, 110-115.
-
(2007)
Gene
, vol.393
, pp. 110-115
-
-
Yang, J.1
Freudenreich, C.H.2
-
71
-
-
84868100119
-
Genome-wide screen identifies pathways that govern GAA/TTC repeat fragility and expansions in dividing and nondividing yeast cells
-
Zhang, Y., Shishkin, A.A., Nishida, Y., Marcinkowski-Desmond, D., Saini, N., Volkov, K.V., Mirkin, S.M. and Lobachev, K.S. (2012) Genome-wide screen identifies pathways that govern GAA/TTC repeat fragility and expansions in dividing and nondividing yeast cells. Mol. Cell, 48, 254-265.
-
(2012)
Mol. Cell
, vol.48
, pp. 254-265
-
-
Zhang, Y.1
Shishkin, A.A.2
Nishida, Y.3
Marcinkowski-Desmond, D.4
Saini, N.5
Volkov, K.V.6
Mirkin, S.M.7
Lobachev, K.S.8
-
72
-
-
84865490878
-
Role of mismatch repair enzymes in GAA-TTC triplet-repeat expansion in Friedreich's ataxia induced pluripotent stem cells (iPSCs)
-
Du, J., Campau, E., Soragni, E., Ku, S., Puckett, J.W., Dervan, P.B. and Gottesfeld, J.M. (2012) Role of mismatch repair enzymes in GAA-TTC triplet-repeat expansion in Friedreich's ataxia induced pluripotent stem cells (iPSCs). J. Biol. Chem, 287, 29861-29872.
-
(2012)
J. Biol. Chem
, vol.287
, pp. 29861-29872
-
-
Du, J.1
Campau, E.2
Soragni, E.3
Ku, S.4
Puckett, J.W.5
Dervan, P.B.6
Gottesfeld, J.M.7
-
73
-
-
84857485218
-
Histone deacetylase complexes promote trinucleotide repeat expansions
-
Debacker, K., Frizzell, A., Gleeson, O., Kirkham-McCarthy, L., Mertz, T. and Lahue, R.S. (2012) Histone deacetylase complexes promote trinucleotide repeat expansions. PLoS Biol., 10, e1001257.
-
(2012)
PLoS Biol.
, vol.10
-
-
Debacker, K.1
Frizzell, A.2
Gleeson, O.3
Kirkham-McCarthy, L.4
Mertz, T.5
Lahue, R.S.6
-
74
-
-
84878677036
-
KAT5 Tyrosine phosphorylation couples chromatin sensing to ATM signalling
-
Kaidi, A. and Jackson, S.P. (2013) KAT5 Tyrosine phosphorylation couples chromatin sensing to ATM signalling. Nature, 498, 70-74.
-
(2013)
Nature
, vol.498
, pp. 70-74
-
-
Kaidi, A.1
Jackson, S.P.2
-
75
-
-
0030044128
-
Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeat in dentatorubral-pallidoluysian 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. and Mitsuma, T. (1996) Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeat in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy. J. Neurol. Sci., 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
-
76
-
-
57149089871
-
CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination
-
Libby, R.T., Hagerman, K.A., Pineda, V.V., Lau, R., Cho, D.H., Baccam, S.L., Axford, M.M., Cleary, J.D., Moore, J.M., Sopher, B.L. et al. (2008) CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination. PLoS Genet., 4, e1000257.
-
(2008)
PLoS Genet.
, vol.4
-
-
Libby, R.T.1
Hagerman, K.A.2
Pineda, V.V.3
Lau, R.4
Cho, D.H.5
Baccam, S.L.6
Axford, M.M.7
Cleary, J.D.8
Moore, J.M.9
Sopher, B.L.10
-
77
-
-
79951833466
-
Unusual structures are present in DNA fragments containing super-long Huntingtin CAG repeats
-
Duzdevich, D., Li, J., Whang, J., Takahashi, H., Takeyasu, K., Dryden, D.T., Morton, A.J. and Edwardson, J.M. Unusual structures are present in DNA fragments containing super-long Huntingtin CAG repeats. PLoS One, 6, e17119.
-
PLoS One
, vol.6
-
-
Duzdevich, D.1
Li, J.2
Whang, J.3
Takahashi, H.4
Takeyasu, K.5
Dryden, D.T.6
Morton, A.J.7
Edwardson, J.M.8
-
78
-
-
79954537135
-
The mouse mismatch repair protein, MSH3, is a nucleoplasmic protein that aggregates into denser nuclear bodies under conditions of stress
-
Holt, I., Thanh Lam, L., Tome, S., Wansink, D.G., Te Riele, H., Gourdon, G. and Morris, G.E. (2011) The mouse mismatch repair protein, MSH3, is a nucleoplasmic protein that aggregates into denser nuclear bodies under conditions of stress. J. Cell Biochem., 112, 1612-1621.
-
(2011)
J. Cell Biochem.
, vol.112
, pp. 1612-1621
-
-
Holt, I.1
Thanh Lam, L.2
Tome, S.3
Wansink, D.G.4
Te Riele, H.5
Gourdon, G.6
Morris, G.E.7
|