-
1
-
-
77649144557
-
Repeat instability as the basis for human diseases and as a potential target for therapy
-
López 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
-
-
López Castel, A.1
Cleary, J.D.2
Pearson, C.E.3
-
2
-
-
0030700381
-
Increased trinucleotide repeat instability with advanced maternal age
-
Kaytor, M.D., Burright, E.N., Duvick, L.A., Zoghbi, H.Y. and Orr, H.T. (1997) Increased trinucleotide repeat instability with advanced maternal age. Hum. Mol. Genet., 6, 2135-2139.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 2135-2139
-
-
Kaytor, M.D.1
Burright, E.N.2
Duvick, L.A.3
Zoghbi, H.Y.4
Orr, H.T.5
-
3
-
-
0344872618
-
Slipping while sleeping? Trinucleotide repeat expansions in germ cells
-
Pearson, C.E. (2003) Slipping while sleeping? Trinucleotide repeat expansions in germ cells. Trends Mol. Med., 9, 490-495.
-
(2003)
Trends Mol. Med.
, vol.9
, pp. 490-495
-
-
Pearson, C.E.1
-
4
-
-
0028013626
-
Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy
-
Ashizawa, T., Anvret, M., Baiget, M., Barcelo, J.M., Brunner, H., Cobo, A.M., Dallapiccola, B., Fenwick, R.G. Jr, Grandell, U., Harley, H. et al. (1994) Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am. J. Hum. Genet., 54, 414-423.
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 414-423
-
-
Ashizawa, T.1
Anvret, M.2
Baiget, M.3
Barcelo, J.M.4
Brunner, H.5
Cobo, A.M.6
Dallapiccola, B.7
Fenwick R.G., Jr.8
Grandell, U.9
Harley, H.10
-
5
-
-
73349135332
-
Intergenerational contraction of the CTG repeats in 2 families with myotonic dystrophy type 1
-
Puymirat, J., Giguere, Y., Mathieu, J. and Bouchard, J.P. (2009) Intergenerational contraction of the CTG repeats in 2 families with myotonic dystrophy type 1. Neurology, 73, 2126-2127.
-
(2009)
Neurology
, vol.73
, pp. 2126-2127
-
-
Puymirat, J.1
Giguere, Y.2
Mathieu, J.3
Bouchard, J.P.4
-
6
-
-
36348940966
-
Factors associated with HD CAG repeat instability in Huntington disease
-
Wheeler, V.C., Persichetti, F., McNeil, S.M., Mysore, J.S., Mysore, S.S., MacDonald, M.E., Myers, R.H., Gusella, J.F. and Wexler, N.S. (2007) Factors associated with HD CAG repeat instability in Huntington disease. J. Med. Genet., 44, 695-701.
-
(2007)
J. Med. Genet.
, vol.44
, pp. 695-701
-
-
Wheeler, V.C.1
Persichetti, F.2
McNeil, S.M.3
Mysore, J.S.4
Mysore, S.S.5
MacDonald, M.E.6
Myers, R.H.7
Gusella, J.F.8
Wexler, N.S.9
-
7
-
-
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. and McMurray, C.T. (2004) 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., 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
-
8
-
-
0034326903
-
Gender of the embryo contributes to CAG instability in transgenic mice containing a Huntington's disease gene
-
Kovtun, I.V., Therneau, T.M. and McMurray, C.T. (2000) Gender of the embryo contributes to CAG instability in transgenic mice containing a Huntington's disease gene. Hum. Mol. Genet., 9, 2767-2775.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2767-2775
-
-
Kovtun, I.V.1
Therneau, T.M.2
McMurray, C.T.3
-
9
-
-
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
-
10
-
-
19344366421
-
Reduced repair of DNA double-strand breaks by homologous recombination in a DNA ligase I-deficient human cell line
-
Goetz, J.D., Motycka, T.A., Han, M., Jasin, M. and Tomkinson, A.E. (2005) Reduced repair of DNA double-strand breaks by homologous recombination in a DNA ligase I-deficient human cell line. DNA Repair (Amst.), 4, 649-654.
-
(2005)
DNA Repair (Amst.)
, vol.4
, pp. 649-654
-
-
Goetz, J.D.1
Motycka, T.A.2
Han, M.3
Jasin, M.4
Tomkinson, A.E.5
-
11
-
-
0030753633
-
Cell-free V(D)J recombination
-
Ramsden, D.A., Paull, T.T. and Gellert, M. (1997) Cell-free V(D)J recombination. Nature, 388, 488-491.
-
(1997)
Nature
, vol.388
, pp. 488-491
-
-
Ramsden, D.A.1
Paull, T.T.2
Gellert, M.3
-
12
-
-
0020961969
-
U.v. induces long-lived DNA breaks in Cockayne's syndrome and cells from an immunodeficient individual (46BR): defects and disturbance in post incision steps of excision repair
-
Squires, S. and Johnson, R.T. (1983) U.v. induces long-lived DNA breaks in Cockayne's syndrome and cells from an immunodeficient individual (46BR): defects and disturbance in post incision steps of excision repair. Carcinogenesis, 4, 565-572.
-
(1983)
Carcinogenesis
, vol.4
, pp. 565-572
-
-
Squires, S.1
Johnson, R.T.2
-
13
-
-
31544483883
-
Genetic instability induced by overexpression of DNA ligase I in budding yeast
-
Subramanian, J., Vijayakumar, S., Tomkinson, A.E. and Arnheim, N. (2005) Genetic instability induced by overexpression of DNA ligase I in budding yeast. Genetics, 171, 427-441.
-
(2005)
Genetics
, vol.171
, pp. 427-441
-
-
Subramanian, J.1
Vijayakumar, S.2
Tomkinson, A.E.3
Arnheim, N.4
-
14
-
-
32644440337
-
Interactions among DNA ligase I, the flap endonuclease and proliferating cell nuclear antigen in the expansion and contraction of CAG repeat tracts in yeast
-
Refsland, E.W. and Livingston, D.M. (2005) Interactions among DNA ligase I, the flap endonuclease and proliferating cell nuclear antigen in the expansion and contraction of CAG repeat tracts in yeast. Genetics, 171, 923-934.
-
(2005)
Genetics
, vol.171
, pp. 923-934
-
-
Refsland, E.W.1
Livingston, D.M.2
-
15
-
-
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
-
López 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
-
-
López Castel, A.1
Tomkinson, A.E.2
Pearson, C.E.3
-
16
-
-
0026772876
-
Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene
-
Webster, A.D., Barnes, D.E., Arlett, C.F., Lehmann, A.R. and Lindahl, T. (1992) Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene. Lancet, 339, 1508-1509.
-
(1992)
Lancet
, vol.339
, pp. 1508-1509
-
-
Webster, A.D.1
Barnes, D.E.2
Arlett, C.F.3
Lehmann, A.R.4
Lindahl, T.5
-
17
-
-
0026680743
-
Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents
-
Barnes, D.E., Tomkinson, A.E., Lehmann, A.R., Webster, A.D. and Lindahl, T. (1992) Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents. Cell, 69, 495-503.
-
(1992)
Cell
, vol.69
, pp. 495-503
-
-
Barnes, D.E.1
Tomkinson, A.E.2
Lehmann, A.R.3
Webster, A.D.4
Lindahl, T.5
-
18
-
-
0024392855
-
Altered formation of DNA replication intermediates in human 46 BR fibroblast cells hypersensitive to 3-aminobenzamide
-
Lonn, U., Lonn, S., Nylen, U. and Winblad, G. (1989) Altered formation of DNA replication intermediates in human 46 BR fibroblast cells hypersensitive to 3-aminobenzamide. Carcinogenesis, 10, 981-985.
-
(1989)
Carcinogenesis
, vol.10
, pp. 981-985
-
-
Lonn, U.1
Lonn, S.2
Nylen, U.3
Winblad, G.4
-
19
-
-
0028047308
-
Aberrant DNA repair and DNA replication due to an inherited enzymatic defect in human DNA ligase I
-
Prigent, C., Satoh, M.S., Daly, G., Barnes, D.E. and Lindahl, T. (1994) Aberrant DNA repair and DNA replication due to an inherited enzymatic defect in human DNA ligase I. Mol. Cell Biol., 14, 310-317.
-
(1994)
Mol. Cell Biol.
, vol.14
, pp. 310-317
-
-
Prigent, C.1
Satoh, M.S.2
Daly, G.3
Barnes, D.E.4
Lindahl, T.5
-
20
-
-
0037099729
-
Replication failure, genome instability, and increased cancer susceptibility in mice with a point mutation in the DNA ligase I gene
-
Harrison, C., Ketchen, A.M., Redhead, N.J., O'Sullivan, M.J. and Melton, D.W. (2002) Replication failure, genome instability, and increased cancer susceptibility in mice with a point mutation in the DNA ligase I gene. Cancer Res., 62, 4065-4074.
-
(2002)
Cancer Res.
, vol.62
, pp. 4065-4074
-
-
Harrison, C.1
Ketchen, A.M.2
Redhead, N.J.3
O'Sullivan, M.J.4
Melton, D.W.5
-
21
-
-
0027178309
-
Phenotypic correction of a human cell line (46BR) with aberrant DNA ligase I activity
-
Somia, N.V., Jessop, J.K. and Melton, D.W. (1993) Phenotypic correction of a human cell line (46BR) with aberrant DNA ligase I activity. Mutat. Res., 294, 51-58.
-
(1993)
Mutat. Res.
, vol.294
, pp. 51-58
-
-
Somia, N.V.1
Jessop, J.K.2
Melton, D.W.3
-
22
-
-
0031038809
-
Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice
-
Gourdon, G., Radvanyi, F., Lia, A.S., Duros, C., Blanche, M., Abitbol, M., Junien, C. and Hofmann-Radvanyi, H. (1997) Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice. Nat. Genet., 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
-
23
-
-
0034194141
-
Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability
-
Seznec, H., Lia-Baldini, A.S., Duros, C., Fouquet, C., Lacroix, C., Hofmann-Radvanyi, H., Junien, C. and Gourdon, G. (2000) Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability. Hum. Mol. Genet., 9, 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
-
24
-
-
4544376726
-
Analysis of unstable triplet repeats using small-pool polymerase chain reaction
-
Gomes-Pereira, M., Bidichandani, S.I. and Monckton, D.G. (2004) Analysis of unstable triplet repeats using small-pool polymerase chain reaction. Methods Mol. Biol., 277, 61-76.
-
(2004)
Methods Mol. Biol.
, vol.277
, pp. 61-76
-
-
Gomes-Pereira, M.1
Bidichandani, S.I.2
Monckton, D.G.3
-
25
-
-
0033569961
-
The replication factory targeting sequence/ PCNA-binding site is required in G(1) to control the phosphorylation status of DNA ligase I
-
Rossi, R., Villa, A., Negri, C., Scovassi, I., Ciarrocchi, G., Biamonti, G. and Montecucco, A. (1999) The replication factory targeting sequence/ PCNA-binding site is required in G(1) to control the phosphorylation status of DNA ligase I. EMBO J., 18, 5745-5754.
-
(1999)
EMBO J.
, vol.18
, pp. 5745-5754
-
-
Rossi, R.1
Villa, A.2
Negri, C.3
Scovassi, I.4
Ciarrocchi, G.5
Biamonti, G.6
Montecucco, A.7
-
26
-
-
0141844487
-
Cell cycle-dependent phosphorylation of human DNA ligase I at the cyclin-dependent kinase sites
-
Ferrari, G., Rossi, R., Arosio, D., Vindigni, A., Biamonti, G. and Montecucco, A. (2003) Cell cycle-dependent phosphorylation of human DNA ligase I at the cyclin-dependent kinase sites. J. Biol. Chem., 278, 37761-37767.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 37761-37767
-
-
Ferrari, G.1
Rossi, R.2
Arosio, D.3
Vindigni, A.4
Biamonti, G.5
Montecucco, A.6
-
27
-
-
33645228027
-
A new monoclonal antibody against DNA ligase I is a suitable marker of cell proliferation in cultured cell and tissue section samples
-
Vitolo, B., Lidonnici, M.R., Montecucco, C. and Montecucco, A. (2005) A new monoclonal antibody against DNA ligase I is a suitable marker of cell proliferation in cultured cell and tissue section samples. Eur. J. Histochem., 49, 349-354.
-
(2005)
Eur. J. Histochem.
, vol.49
, pp. 349-354
-
-
Vitolo, B.1
Lidonnici, M.R.2
Montecucco, C.3
Montecucco, A.4
-
28
-
-
0035510133
-
Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities
-
Seznec, H., Agbulut, O., Sergeant, N., Savouret, C., Ghestem, A., Tabti, N., Willer, J.C., Ourth, L., Duros, C., Brisson, E. et al. (2001) Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. Hum. Mol. Genet., 10, 2717-2726.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2717-2726
-
-
Seznec, H.1
Agbulut, O.2
Sergeant, N.3
Savouret, C.4
Ghestem, A.5
Tabti, N.6
Willer, J.C.7
Ourth, L.8
Duros, C.9
Brisson, E.10
-
29
-
-
0020962479
-
Fiber DNA studies of premeiotic mouse spermatogenesis
-
Jagiello, G., Sung, W.K. and Van't Hof, J. (1983) Fiber DNA studies of premeiotic mouse spermatogenesis. Exp. Cell Res., 146, 281-287.
-
(1983)
Exp. Cell Res.
, vol.146
, pp. 281-287
-
-
Jagiello, G.1
Sung, W.K.2
Van't Hof, J.3
-
30
-
-
0022477096
-
DNA synthesis studies in pre-meiotic mouse oogenesis
-
Sung, W.K., Van't Hof, J. and Jagiello, G. (1986) DNA synthesis studies in pre-meiotic mouse oogenesis. Exp. Cell Res., 163, 370-380.
-
(1986)
Exp. Cell Res.
, vol.163
, pp. 370-380
-
-
Sung, W.K.1
Van't Hof, J.2
Jagiello, G.3
-
31
-
-
0036578758
-
Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells
-
Cleary, J.D., Nichol, K., Wang, Y.H. and Pearson, C.E. (2002) Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells. Nat. Genet., 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
-
32
-
-
0036537511
-
DNA ligase I null mouse cells show normal DNA repair activity but altered DNA replication and reduced genome stability
-
Bentley, D.J., Harrison, C., Ketchen, A.M., Redhead, N.J., Samuel, K., Waterfall, M., Ansell, J.D. and Melton, D.W. (2002) DNA ligase I null mouse cells show normal DNA repair activity but altered DNA replication and reduced genome stability. J. Cell Sci., 115, 1551-1561.
-
(2002)
J. Cell Sci.
, vol.115
, pp. 1551-1561
-
-
Bentley, D.J.1
Harrison, C.2
Ketchen, A.M.3
Redhead, N.J.4
Samuel, K.5
Waterfall, M.6
Ansell, J.D.7
Melton, D.W.8
-
33
-
-
0034725635
-
A direct interaction between proliferating cell nuclear antigen (PCNA) and Cdk2 targets PCNA-interacting proteins for phosphorylation
-
Koundrioukoff, S., Jonsson, Z.O., Hasan, S., de Jong, R.N., van der Vliet, P.C., Hottiger, M.O. and Hubscher, U. (2000) A direct interaction between proliferating cell nuclear antigen (PCNA) and Cdk2 targets PCNA-interacting proteins for phosphorylation. J. Biol. Chem., 275, 22882-22887.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 22882-22887
-
-
Koundrioukoff, S.1
Jonsson, Z.O.2
Hasan, S.3
de Jong, R.N.4
van der Vliet, P.C.5
Hottiger, M.O.6
Hubscher, U.7
-
34
-
-
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
-
35
-
-
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
-
36
-
-
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
-
37
-
-
57449091694
-
Intergenerational and striatal CAG repeat instability in Hungtington'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. (2008) Intergenerational and striatal CAG repeat instability in Hungtington's disease knock-in mice involve different DNA repair genes. Neurobiol. Dis., 33, 37-47.
-
(2008)
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
-
38
-
-
0035065524
-
Trinucleotide expansion in haploid germ cells by gap repair
-
Kovtun, I.V. and McMurray, C.T. (2001) Trinucleotide expansion in haploid germ cells by gap repair. Nat. Genet., 27, 407-411.
-
(2001)
Nat. Genet.
, vol.27
, pp. 407-411
-
-
Kovtun, I.V.1
McMurray, C.T.2
-
39
-
-
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
-
40
-
-
25844468819
-
(CAG)(n)-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition
-
Owen, B.A., Yang, Z., Lai, M., Gajek, M., Badger, J.D. 2nd, Hayes, J.J., Edelmann, W., Kucherlapati, R., Wilson, T.M. and McMurray, C.T. (2005) (CAG)(n)-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition. Nat. Struct. Mol. Biol., 12, 663-670.
-
(2005)
Nat. Struct. Mol. Biol.
, vol.12
, pp. 663-670
-
-
Owen, B.A.1
Yang, Z.2
Lai, M.3
Gajek, M.4
Badger J.D., 2nd.5
Hayes, J.J.6
Edelmann, W.7
Kucherlapati, R.8
Wilson, T.M.9
McMurray, C.T.10
-
41
-
-
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
-
42
-
-
77956272401
-
Global chromatin architecture reflects pluripotency and lineage commitment in the early mouse embryo
-
Ahmed, K., Dehghani, H., Rugg-Gunn, P., Fussner, E., Rossant, J. and Bazett-Jones, D.P. (2010) Global chromatin architecture reflects pluripotency and lineage commitment in the early mouse embryo. PLoS ONE, 5, e10531.
-
(2010)
PLoS ONE
, vol.5
-
-
Ahmed, K.1
Dehghani, H.2
Rugg-Gunn, P.3
Fussner, E.4
Rossant, J.5
Bazett-Jones, D.P.6
-
43
-
-
0015725862
-
Pronuclear DNA synthesis in mouse eggs. An autoradiographic study
-
Luthardt, F.W. and Donahue, R.P. (1973) Pronuclear DNA synthesis in mouse eggs. An autoradiographic study. Exp. Cell Res., 82, 143-151.
-
(1973)
Exp. Cell Res.
, vol.82
, pp. 143-151
-
-
Luthardt, F.W.1
Donahue, R.P.2
-
44
-
-
0016705411
-
Pronuclear synthesis of DNA in fertilized and parthenogenetically activated mouse eggs
-
Abramczuk, J. and Sawicki, W. (1975) Pronuclear synthesis of DNA in fertilized and parthenogenetically activated mouse eggs. Exp. Cell Res., 92, 361-371.
-
(1975)
Exp. Cell Res.
, vol.92
, pp. 361-371
-
-
Abramczuk, J.1
Sawicki, W.2
-
45
-
-
0030964894
-
Genome replication in early mouse embryos follows a defined temporal and spatial order
-
Ferreira, J. and Carmo-Fonseca, M. (1997) Genome replication in early mouse embryos follows a defined temporal and spatial order. J. Cell Sci., 110, 889-897.
-
(1997)
J. Cell Sci.
, vol.110
, pp. 889-897
-
-
Ferreira, J.1
Carmo-Fonseca, M.2
-
46
-
-
0033129528
-
DNA replication in the 1-cell mouse embryo: stimulatory effect of histone acetylation
-
Aoki, E. and Schultz, R.M. (1999) DNA replication in the 1-cell mouse embryo: stimulatory effect of histone acetylation. Zygote, 7, 165-172.
-
(1999)
Zygote
, vol.7
, pp. 165-172
-
-
Aoki, E.1
Schultz, R.M.2
-
47
-
-
77956345129
-
Tissue- and age-specific DNA replication patterns at the CTG/ CAG-expanded human myotonic dystrophy type 1 locus
-
Cleary, J.D., Tomé, S., López 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
Tomé, S.2
López 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
-
48
-
-
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. (2010) Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation. Hum. Mol. Genet., 20, 176-185.
-
(2010)
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
-
49
-
-
0027371613
-
Requirements for promoter activity in mouse oocytes and embryos distinguish paternal pronuclei from maternal and zygotic nuclei
-
Wiekowski, M., Miranda, M. and DePamphilis, M.L. (1993) Requirements for promoter activity in mouse oocytes and embryos distinguish paternal pronuclei from maternal and zygotic nuclei. Dev. Biol., 159, 366-378.
-
(1993)
Dev. Biol.
, vol.159
, pp. 366-378
-
-
Wiekowski, M.1
Miranda, M.2
DePamphilis, M.L.3
-
50
-
-
43249119834
-
Sperm-derived histones contribute to zygotic chromatin in humans
-
van der Heijden, G.W., Ramos, L., Baart, E.B., van den Berg, I.M., Derijck, A.A., van der Vlag, J., Martini, E. and de Boer, P. (2008) Sperm-derived histones contribute to zygotic chromatin in humans. BMC Dev. Biol., 8, 34.
-
(2008)
BMC Dev. Biol.
, vol.8
, pp. 34
-
-
van der Heijden, G.W.1
Ramos, L.2
Baart, E.B.3
van den Berg, I.M.4
Derijck, A.A.5
van der Vlag, J.6
Martini, E.7
de Boer, P.8
-
51
-
-
23144456323
-
Asymmetry in histone H3 variants and lysine methylation between paternal and maternal chromatin of the early mouse zygote
-
van der Heijden, G.W., Dieker, J.W., Derijck, A.A., Muller, S., Berden, J.H., Braat, D.D., van der Vlag, J. and de Boer, P. (2005) Asymmetry in histone H3 variants and lysine methylation between paternal and maternal chromatin of the early mouse zygote. Mech. Dev., 122, 1008-1022.
-
(2005)
Mech. Dev.
, vol.122
, pp. 1008-1022
-
-
van der Heijden, G.W.1
Dieker, J.W.2
Derijck, A.A.3
Muller, S.4
Berden, J.H.5
Braat, D.D.6
van der Vlag, J.7
de Boer, P.8
-
52
-
-
0015990218
-
Autoradiographic visualisation of paternal chromosomes in mouse eggs
-
Keneklis, T.P. and Odartchenko, N. (1974) Autoradiographic visualisation of paternal chromosomes in mouse eggs. Nature, 247, 215-216.
-
(1974)
Nature
, vol.247
, pp. 215-216
-
-
Keneklis, T.P.1
Odartchenko, N.2
-
53
-
-
0036165275
-
Maternal effect for DNA mismatch repair in the mouse
-
Gurtu, V.E., Verma, S., Grossmann, A.H., Liskay, R.M., Skarnes, W.C. and Baker, S.M. (2002) Maternal effect for DNA mismatch repair in the mouse. Genetics, 160, 271-277.
-
(2002)
Genetics
, vol.160
, pp. 271-277
-
-
Gurtu, V.E.1
Verma, S.2
Grossmann, A.H.3
Liskay, R.M.4
Skarnes, W.C.5
Baker, S.M.6
-
54
-
-
5644273037
-
Impact of mismatch repair deficiency on genomic stability in the maternal germline and during early embryonic development
-
Larson, J.S., Stringer, S.L. and Stringer, J.R. (2004) Impact of mismatch repair deficiency on genomic stability in the maternal germline and during early embryonic development. Mutat. Res., 556, 45-53.
-
(2004)
Mutat. Res.
, vol.556
, pp. 45-53
-
-
Larson, J.S.1
Stringer, S.L.2
Stringer, J.R.3
-
55
-
-
0034701278
-
Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus
-
Lorenzetti, D., Watase, K., Xu, B., Matzuk, M.M., Orr, H.T. and Zoghbi, H.Y. (2000) Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus. Hum. Mol. Genet., 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
-
56
-
-
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. et al. (1999) A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice. Hum. Mol. Genet., 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
-
57
-
-
0032938295
-
Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse
-
Wheeler, V.C., Auerbach, W., White, J.K., Srinidhi, J., Auerbach, A., Ryan, A., Duyao, M.P., Vrbanac, V., Weaver, M., Gusella, J.F. et al. (1999) Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse. Hum. Mol. Genet., 8, 115-122.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 115-122
-
-
Wheeler, V.C.1
Auerbach, W.2
White, J.K.3
Srinidhi, J.4
Auerbach, A.5
Ryan, A.6
Duyao, M.P.7
Vrbanac, V.8
Weaver, M.9
Gusella, J.F.10
-
58
-
-
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
-
59
-
-
7144256250
-
Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability
-
La Spada, A.R., Peterson, K.R., Meadows, S.A., McClain, M.E., Jeng, G., Chmelar, R.S., Haugen, H.A., Chen, K., Singer, M.J., Moore, D. et al. (1998) Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability. Hum. Mol. Genet., 7, 959-967.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 959-967
-
-
La Spada, A.R.1
Peterson, K.R.2
Meadows, S.A.3
McClain, M.E.4
Jeng, G.5
Chmelar, R.S.6
Haugen, H.A.7
Chen, K.8
Singer, M.J.9
Moore, D.10
-
60
-
-
0032907359
-
Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients
-
Sato, T., Oyake, M., Nakamura, K., Nakao, K., Fukusima, Y., Onodera, O., Igarashi, S., Takano, H., Kikugawa, K., Ishida, Y. et al. (1999) Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients. Hum. Mol. Genet., 8, 99-106.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 99-106
-
-
Sato, T.1
Oyake, M.2
Nakamura, K.3
Nakao, K.4
Fukusima, Y.5
Onodera, O.6
Igarashi, S.7
Takano, H.8
Kikugawa, K.9
Ishida, Y.10
-
61
-
-
0029883805
-
Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci
-
Pearson, C.E. and Sinden, R.R. (1996) Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci. Biochemistry, 35, 5041-5053.
-
(1996)
Biochemistry
, vol.35
, pp. 5041-5053
-
-
Pearson, C.E.1
Sinden, R.R.2
-
62
-
-
2642689662
-
Structural analysis of slipped-strand DNA (S-DNA) formed in (CTG)n•(CAG)n repeats from the myotonic dystrophy locus
-
Pearson, C.E., Wang, Y.H., Griffith, J.D. and Sinden, R.R. (1998) Structural analysis of slipped-strand DNA (S-DNA) formed in (CTG)n•(CAG)n repeats from the myotonic dystrophy locus. Nucleic Acids Res., 26, 816-823.
-
(1998)
Nucleic Acids Res.
, vol.26
, pp. 816-823
-
-
Pearson, C.E.1
Wang, Y.H.2
Griffith, J.D.3
Sinden, R.R.4
-
63
-
-
0037133931
-
In vitro (CTG)•(CAG) expansions and deletions by human cell extracts
-
Panigrahi, G.B., Cleary, J.D. and Pearson, C.E. (2002) In vitro (CTG)•(CAG) expansions and deletions by human cell extracts. J. Biol. Chem., 277, 13926-13934.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 13926-13934
-
-
Panigrahi, G.B.1
Cleary, J.D.2
Pearson, C.E.3
-
64
-
-
67149083322
-
MSH2 ATPase domain mutation affects CTG•CAG repeat instability in transgenic mice
-
Tomé, S., Holt, I., Edelmann, W., Morris, G.E., Munnich, A., Pearson, C.E. and Gourdon, G. (2009) MSH2 ATPase domain mutation affects CTG•CAG repeat instability in transgenic mice. PLoS Genet., 5, e1000482.
-
(2009)
PLoS Genet.
, vol.5
-
-
Tomé, S.1
Holt, I.2
Edelmann, W.3
Morris, G.E.4
Munnich, A.5
Pearson, C.E.6
Gourdon, G.7
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