-
2
-
-
77953887860
-
Partners in crime: bidirectional transcription in unstable microsatellite disease
-
Batra R., Charizanis K., Swanson M.S. Partners in crime: bidirectional transcription in unstable microsatellite disease. Hum. Mol. Genet. 2010, 19:R77-R82.
-
(2010)
Hum. Mol. Genet.
, vol.19
-
-
Batra, R.1
Charizanis, K.2
Swanson, M.S.3
-
3
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
Verkerk A.J., Pieretti M., Sutcliffe J.S., Fu Y.H., Kuhl D.P., Pizzuti A., Reiner O., Richards S., Victoria M.F., Zhang F.P., et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991, 65:905-914.
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.1
Pieretti, M.2
Sutcliffe, J.S.3
Fu, Y.H.4
Kuhl, D.P.5
Pizzuti, A.6
Reiner, O.7
Richards, S.8
Victoria, M.F.9
Zhang, F.P.10
-
4
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
Oberle I., Rousseau F., Heitz D., Kretz C., Devys D., Hanauer A., Boue J., Bertheas M.F., 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
Hanauer, A.6
Boue, J.7
Bertheas, M.F.8
Mandel, J.L.9
-
5
-
-
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 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, M.4
Sutcliffe, J.S.5
Richards, S.6
Verkerk, A.J.7
Holden, J.J.8
Fenwick, R.G.9
Warren, S.T.10
-
6
-
-
3042647610
-
The mGluR theory of fragile X mental retardation
-
Bear M.F., Huber K.M., Warren S.T. The mGluR theory of fragile X mental retardation. Trends Neurosci. 2004, 27:370-377.
-
(2004)
Trends Neurosci.
, vol.27
, pp. 370-377
-
-
Bear, M.F.1
Huber, K.M.2
Warren, S.T.3
-
7
-
-
0018820142
-
X-linked mental retardation, macro-orchidism, and the Xq27 fragile site
-
Turner G., Daniel A., Frost M. X-linked mental retardation, macro-orchidism, and the Xq27 fragile site. J. Pediatr. 1980, 96:837-841.
-
(1980)
J. Pediatr.
, vol.96
, pp. 837-841
-
-
Turner, G.1
Daniel, A.2
Frost, M.3
-
8
-
-
0019513791
-
The 'fragile' X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial mental retardation
-
Proops R., Webb T. The 'fragile' X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial mental retardation. J. Med. Genet. 1981, 18:366-373.
-
(1981)
J. Med. Genet.
, vol.18
, pp. 366-373
-
-
Proops, R.1
Webb, T.2
-
9
-
-
70749146022
-
Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population
-
Levesque S., Dombrowski C., Morel M.L., Rehel R., Cote J.S., Bussieres J., Morgan K., Rousseau F. Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population. Clin. Genet. 2009, 76:511-523.
-
(2009)
Clin. Genet.
, vol.76
, pp. 511-523
-
-
Levesque, S.1
Dombrowski, C.2
Morel, M.L.3
Rehel, R.4
Cote, J.S.5
Bussieres, J.6
Morgan, K.7
Rousseau, F.8
-
11
-
-
0033515496
-
Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study-preliminary data
-
Allingham-Hawkins D.J., Babul-Hirji R., Chitayat D., Holden J.J., Yang K.T., Lee C., Hudson R., Gorwill H., Nolin S.L., Glicksman A., Jenkins E.C., Brown W.T., Howard-Peebles P.N., Becchi C., Cummings E., Fallon L., Seitz S., Black S.H., Vianna-Morgante A.M., Costa S.S., Otto P.A., Mingroni-Netto R.C., Murray A., Webb J., Vieri F., et al. Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study-preliminary data. Am. J. Med. Genet. 1999, 83:322-325.
-
(1999)
Am. J. Med. Genet.
, vol.83
, pp. 322-325
-
-
Allingham-Hawkins, D.J.1
Babul-Hirji, R.2
Chitayat, D.3
Holden, J.J.4
Yang, K.T.5
Lee, C.6
Hudson, R.7
Gorwill, H.8
Nolin, S.L.9
Glicksman, A.10
Jenkins, E.C.11
Brown, W.T.12
Howard-Peebles, P.N.13
Becchi, C.14
Cummings, E.15
Fallon, L.16
Seitz, S.17
Black, S.H.18
Vianna-Morgante, A.M.19
Costa, S.S.20
Otto, P.A.21
Mingroni-Netto, R.C.22
Murray, A.23
Webb, J.24
Vieri, F.25
more..
-
12
-
-
0031809893
-
Fragile X premutation screening in women with premature ovarian failure
-
Conway G.S., Payne N.N., Webb J., Murray A., Jacobs P.A. Fragile X premutation screening in women with premature ovarian failure. Hum. Reprod. 1998, 13:1184-1187.
-
(1998)
Hum. Reprod.
, vol.13
, pp. 1184-1187
-
-
Conway, G.S.1
Payne, N.N.2
Webb, J.3
Murray, A.4
Jacobs, P.A.5
-
13
-
-
0031857007
-
Studies of FRAXA and FRAXE in women with premature ovarian failure
-
Murray A., Webb J., Grimley S., Conway G., Jacobs P. Studies of FRAXA and FRAXE in women with premature ovarian failure. J. Med. Genet. 1998, 35:637-640.
-
(1998)
J. Med. Genet.
, vol.35
, pp. 637-640
-
-
Murray, A.1
Webb, J.2
Grimley, S.3
Conway, G.4
Jacobs, P.5
-
14
-
-
18144402411
-
Long CGG-repeat tracts are toxic to human cells: implications for carriers of Fragile X premutation alleles
-
Handa V., Goldwater D., Stiles D., Cam M., Poy G., Kumari D., Usdin K. Long CGG-repeat tracts are toxic to human cells: implications for carriers of Fragile X premutation alleles. FEBS Lett. 2005, 579:2702-2708.
-
(2005)
FEBS Lett.
, vol.579
, pp. 2702-2708
-
-
Handa, V.1
Goldwater, D.2
Stiles, D.3
Cam, M.4
Poy, G.5
Kumari, D.6
Usdin, K.7
-
15
-
-
0041880131
-
RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila
-
Jin P., Zarnescu D.C., Zhang F., Pearson C.E., Lucchesi J.C., Moses K., Warren S.T. RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron 2003, 39:739-747.
-
(2003)
Neuron
, vol.39
, pp. 739-747
-
-
Jin, P.1
Zarnescu, D.C.2
Zhang, F.3
Pearson, C.E.4
Lucchesi, J.C.5
Moses, K.6
Warren, S.T.7
-
16
-
-
67249150481
-
Ectopic expression of CGG containing mRNA is neurotoxic in mammals
-
Hashem V., Galloway J.N., Mori M., Willemsen R., Oostra B.A., Paylor R., Nelson D.L. Ectopic expression of CGG containing mRNA is neurotoxic in mammals. Hum. Mol. Genet. 2009, 18:2443-2451.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 2443-2451
-
-
Hashem, V.1
Galloway, J.N.2
Mori, M.3
Willemsen, R.4
Oostra, B.A.5
Paylor, R.6
Nelson, D.L.7
-
17
-
-
62549117369
-
Friedreich ataxia: the clinical picture
-
Pandolfo M. Friedreich ataxia: the clinical picture. J. Neurol. 2009, 256(Suppl 1):3-8.
-
(2009)
J. Neurol.
, vol.256
, Issue.SUPPL. 1
, pp. 3-8
-
-
Pandolfo, M.1
-
18
-
-
13344270899
-
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V., Montermini L., Molto M.D., Pianese L., Cossee M., Cavalcanti F., Monros E., Rodius F., Duclos F., Monticelli A., Zara F., Canizares J., Koutnikova H., Bidichandani S.I., Gellera C., Brice A., Trouillas P., De Michele G., Filla A., De Frutos R., Palau F., Patel P.I., Di Donato S., Mandel J.L., Cocozza S., Koenig M., Pandolfo M. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat 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
Zara, F.11
Canizares, J.12
Koutnikova, H.13
Bidichandani, S.I.14
Gellera, C.15
Brice, A.16
Trouillas, P.17
De Michele, G.18
Filla, A.19
De Frutos, R.20
Palau, F.21
Patel, P.I.22
Di Donato, S.23
Mandel, J.L.24
Cocozza, S.25
Koenig, M.26
Pandolfo, M.27
more..
-
19
-
-
0027377155
-
High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome
-
Hornstra I.K., Nelson D.L., Warren S.T., Yang T.P. High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome. Hum. Mol. Genet. 1993, 2:1659-1665.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1659-1665
-
-
Hornstra, I.K.1
Nelson, D.L.2
Warren, S.T.3
Yang, T.P.4
-
20
-
-
77951773059
-
Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model
-
Entezam A., Lokanga A.R., Le W., Hoffman G., Usdin K. Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model. Hum. Mutat. 2010, 31:611-616.
-
(2010)
Hum. Mutat.
, vol.31
, pp. 611-616
-
-
Entezam, A.1
Lokanga, A.R.2
Le, W.3
Hoffman, G.4
Usdin, K.5
-
21
-
-
39549086548
-
ATR protects the genome against CGG.CCG-repeat expansion in Fragile X premutation mice
-
Entezam A., Usdin K. ATR protects the genome against CGG.CCG-repeat expansion in Fragile X premutation mice. Nucleic Acids Res. 2008, 36:1050-1056.
-
(2008)
Nucleic Acids Res.
, vol.36
, pp. 1050-1056
-
-
Entezam, A.1
Usdin, K.2
-
22
-
-
71049195737
-
ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice
-
Entezam A., Usdin K. ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice. Nucleic Acids Res. 2009, 37:6371-6377.
-
(2009)
Nucleic Acids Res.
, vol.37
, pp. 6371-6377
-
-
Entezam, A.1
Usdin, K.2
-
23
-
-
46449113997
-
The biological effects of simple tandem repeats: lessons from the repeat expansion diseases
-
Usdin K. The biological effects of simple tandem repeats: lessons from the repeat expansion diseases. Genome Res. 2008, 18:1011-1019.
-
(2008)
Genome Res.
, vol.18
, pp. 1011-1019
-
-
Usdin, K.1
-
24
-
-
77958109197
-
Mechanisms of trinucleotide repeat instability during human development
-
McMurray C.T. Mechanisms of trinucleotide repeat instability during human development. Nat. Rev. Genet. 2010, 11:786-799.
-
(2010)
Nat. Rev. Genet.
, vol.11
, pp. 786-799
-
-
McMurray, C.T.1
-
25
-
-
42449090287
-
Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline
-
Dion V., Lin Y., Hubert L., Waterland R.A., Wilson J.H. Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline. Hum. Mol. Genet. 2008, 17:1306-1317.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 1306-1317
-
-
Dion, V.1
Lin, Y.2
Hubert, L.3
Waterland, R.A.4
Wilson, J.H.5
-
26
-
-
37549033947
-
Genome-wide demethylation promotes triplet repeat instability independently of homologous recombination
-
Dion V., Lin Y., Price B.A., Fyffe S.L., Seluanov A., Gorbunova V., Wilson J.H. Genome-wide demethylation promotes triplet repeat instability independently of homologous recombination. DNA Repair (Amst) 2008, 7:313-320.
-
(2008)
DNA Repair (Amst)
, vol.7
, pp. 313-320
-
-
Dion, V.1
Lin, Y.2
Price, B.A.3
Fyffe, S.L.4
Seluanov, A.5
Gorbunova, V.6
Wilson, J.H.7
-
27
-
-
9744253732
-
Genome-wide demethylation destabilizes CTG.CAG trinucleotide repeats in mammalian cells
-
Gorbunova V., Seluanov A., Mittelman D., Wilson J.H. Genome-wide demethylation destabilizes CTG.CAG trinucleotide repeats in mammalian cells. Hum. Mol. Genet. 2004, 13:2979-2989.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 2979-2989
-
-
Gorbunova, V.1
Seluanov, A.2
Mittelman, D.3
Wilson, J.H.4
-
28
-
-
34147136044
-
CREB-binding protein modulates repeat instability in a Drosophila model for polyQ disease
-
Jung J., Bonini N. CREB-binding protein modulates repeat instability in a Drosophila model for polyQ disease. Science 2007, 315:1857-1859.
-
(2007)
Science
, vol.315
, pp. 1857-1859
-
-
Jung, J.1
Bonini, N.2
-
29
-
-
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., Tapscott S.J., Filippova G.N., Pearson C.E., La Spada A.R. CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination. PLoS Genet. 2008, 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
Tapscott, S.J.11
Filippova, G.N.12
Pearson, C.E.13
La Spada, A.R.14
-
30
-
-
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
-
31
-
-
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
-
32
-
-
12244311838
-
Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice
-
Libby R.T., Monckton D.G., Fu Y.H., Martinez R.A., McAbney J.P., Lau R., Einum D.D., Nichol K., Ware C.B., Ptacek L.J., Pearson C.E., 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
Pearson, C.E.11
La Spada, A.R.12
-
33
-
-
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
-
34
-
-
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., Wheeler V.C. Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes. Neurobiol. Dis. 2009, 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
Wheeler, V.C.11
-
35
-
-
0034639711
-
Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability
-
Fortune M.T., Vassilopoulos C., Coolbaugh M.I., Siciliano M.J., Monckton D.G. Dramatic, expansion-biased, age-dependent, 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
-
36
-
-
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., Monckton D.G. Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion. Hum. Mol. Genet. 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
-
37
-
-
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
-
38
-
-
0346752132
-
Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis
-
Kennedy L., Evans E., Chen C.M., Craven L., Detloff P.J., Ennis M., Shelbourne P.F. Dramatic tissue-specific mutation length increases are an early molecular event in Huntington 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
-
39
-
-
0031827446
-
Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities
-
Lia A.S., Seznec H., Hofmann-Radvanyi H., Radvanyi F., Duros C., Saquet C., Blanche M., Junien C., 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
Hofmann-Radvanyi, H.3
Radvanyi, F.4
Duros, C.5
Saquet, C.6
Blanche, M.7
Junien, C.8
Gourdon, G.9
-
40
-
-
0032907359
-
Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients
-
Sato T., Oyake M., Nakamura K., Nakao K., Fukusima Y., Onodera O., Igarashi S., Takano H., Kikugawa K., Ishida Y., Shimohata T., Koide R., Ikeuchi T., Tanaka H., Futamura N., Matsumura R., Takayanagi T., Tanaka F., Sobue G., Komure O., Takahashi M., Sano A., Ichikawa Y., Goto J., Kanazawa I., et al. Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients. Hum. Mol. Genet. 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
more..
-
41
-
-
0028916306
-
Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)
-
Ueno S., Kondoh K., Kotani Y., Komure O., Kuno S., Kawai J., Hazama F., Sano A. Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA). Hum. Mol. Genet. 1995, 4:663-666.
-
(1995)
Hum. 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
-
42
-
-
78049512763
-
Friedreich's ataxia induced pluripotent stem cells model intergenerational GAATTC triplet repeat instability
-
Ku S., Soragni E., Campau E., Thomas E.A., Altun G., Laurent L.C., Loring J.F., Napierala M., Gottesfeld J.M. Friedreich's ataxia induced pluripotent stem cells model intergenerational GAATTC triplet repeat instability. Cell Stem Cell 2010, 7:631-637.
-
(2010)
Cell Stem Cell
, vol.7
, pp. 631-637
-
-
Ku, S.1
Soragni, E.2
Campau, E.3
Thomas, E.A.4
Altun, G.5
Laurent, L.C.6
Loring, J.F.7
Napierala, M.8
Gottesfeld, J.M.9
-
43
-
-
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., Gourdon G. Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice. Hum. Genet. 2006, 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
-
44
-
-
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
-
45
-
-
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
-
46
-
-
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
-
47
-
-
0031971691
-
Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats
-
Wohrle D., Salat U., Glaser D., Mucke J., Meisel-Stosiek M., Schindler D., Vogel W., Steinbach P. Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats. J. Med. Genet. 1998, 35:103-111.
-
(1998)
J. Med. Genet.
, vol.35
, pp. 103-111
-
-
Wohrle, D.1
Salat, U.2
Glaser, D.3
Mucke, J.4
Meisel-Stosiek, M.5
Schindler, D.6
Vogel, W.7
Steinbach, P.8
-
48
-
-
0034882704
-
Demethylation, reactivation, and destabilization of human fragile X full-mutation alleles in mouse embryocarcinoma cells
-
Wohrle D., Salat U., Hameister H., Vogel W., Steinbach P. Demethylation, reactivation, and destabilization of human fragile X full-mutation alleles in mouse embryocarcinoma cells. Am. J. Hum. Genet. 2001, 69:504-515.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 504-515
-
-
Wohrle, D.1
Salat, U.2
Hameister, H.3
Vogel, W.4
Steinbach, P.5
-
49
-
-
34247637636
-
Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model
-
Entezam A., Biacsi R., Orrison B., Saha T., Hoffman G.E., Grabczyk E., Nussbaum R.L., Usdin K. Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model. Gene 2007, 395:125-134.
-
(2007)
Gene
, vol.395
, pp. 125-134
-
-
Entezam, A.1
Biacsi, R.2
Orrison, B.3
Saha, T.4
Hoffman, G.E.5
Grabczyk, E.6
Nussbaum, R.L.7
Usdin, K.8
-
50
-
-
0023583191
-
Preferential DNA repair in expressed genes
-
Hanawalt P.C. Preferential DNA repair in expressed genes. Environ. Health Perspect. 1987, 76:9-14.
-
(1987)
Environ. Health Perspect.
, vol.76
, pp. 9-14
-
-
Hanawalt, P.C.1
-
51
-
-
34548204316
-
Transcription-induced CAG repeat contraction in human cells is mediated in part by transcription-coupled nucleotide excision repair
-
Lin Y., Wilson J.H. Transcription-induced CAG repeat contraction in human cells is mediated in part by transcription-coupled nucleotide excision repair. Mol. Cell. Biol. 2007, 27:6209-6217.
-
(2007)
Mol. Cell. Biol.
, vol.27
, pp. 6209-6217
-
-
Lin, Y.1
Wilson, J.H.2
-
52
-
-
79960328293
-
Cockayne syndrome B protein antagonizes OGG1 in modulating CAG repeat length in vivo
-
Kovtun I.V., Johnson K.O., McMurray C.T. Cockayne syndrome B protein antagonizes OGG1 in modulating CAG repeat length in vivo. Aging (Albany NY) 2011, 3:509-514.
-
(2011)
Aging (Albany NY)
, vol.3
, pp. 509-514
-
-
Kovtun, I.V.1
Johnson, K.O.2
McMurray, C.T.3
-
53
-
-
0032059864
-
FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis
-
Hewett D.R., Handt O., Hobson L., Mangelsdorf M., Eyre H.J., Baker E., Sutherland G.R., Schuffenhauer S., Mao J.I., Richards R.I. FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis. Mol. Cell 1998, 1:773-781.
-
(1998)
Mol. Cell
, vol.1
, pp. 773-781
-
-
Hewett, D.R.1
Handt, O.2
Hobson, L.3
Mangelsdorf, M.4
Eyre, H.J.5
Baker, E.6
Sutherland, G.R.7
Schuffenhauer, S.8
Mao, J.I.9
Richards, R.I.10
-
54
-
-
0030974861
-
Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat
-
Yu S., Mangelsdorf M., Hewett D., Hobson L., Baker E., Eyre H.J., Lapsys N., Le Paslier D., Doggett N.A., Sutherland G.R., Richards R.I. Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat. Cell 1997, 88:367-374.
-
(1997)
Cell
, vol.88
, pp. 367-374
-
-
Yu, S.1
Mangelsdorf, M.2
Hewett, D.3
Hobson, L.4
Baker, E.5
Eyre, H.J.6
Lapsys, N.7
Le Paslier, D.8
Doggett, N.A.9
Sutherland, G.R.10
Richards, R.I.11
-
56
-
-
0030575839
-
Long CCG triplet repeat blocks exclude nucleosomes: a possible mechanism for the nature of fragile sites in chromosomes
-
Wang Y.H., Gellibolian R., Shimizu M., Wells R.D., Griffith J. Long CCG triplet repeat blocks exclude nucleosomes: a possible mechanism for the nature of fragile sites in chromosomes. J. Mol. Biol. 1996, 263:511-516.
-
(1996)
J. Mol. Biol.
, vol.263
, pp. 511-516
-
-
Wang, Y.H.1
Gellibolian, R.2
Shimizu, M.3
Wells, R.D.4
Griffith, J.5
-
57
-
-
0037053329
-
Human fragile site FRA16B DNA excludes nucleosomes in the presence of distamycin
-
Hsu Y.Y., Wang Y.H. Human fragile site FRA16B DNA excludes nucleosomes in the presence of distamycin. J. Biol. Chem. 2002, 277:17315-17319.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 17315-17319
-
-
Hsu, Y.Y.1
Wang, Y.H.2
-
58
-
-
0027337930
-
DNA polymerase epsilon: aphidicolin inhibition and the relationship between polymerase and exonuclease activity
-
Cheng C.H., Kuchta R.D. DNA polymerase epsilon: aphidicolin inhibition and the relationship between polymerase and exonuclease activity. Biochemistry 1993, 32:8568-8574.
-
(1993)
Biochemistry
, vol.32
, pp. 8568-8574
-
-
Cheng, C.H.1
Kuchta, R.D.2
-
59
-
-
0018118897
-
Aphidicolin prevents mitotic cell division by interfering with the activity of DNA polymerase-alpha
-
Ikegami S., Taguchi T., Ohashi M., Oguro M., Nagano H., Mano Y. Aphidicolin prevents mitotic cell division by interfering with the activity of DNA polymerase-alpha. Nature 1978, 275:458-460.
-
(1978)
Nature
, vol.275
, pp. 458-460
-
-
Ikegami, S.1
Taguchi, T.2
Ohashi, M.3
Oguro, M.4
Nagano, H.5
Mano, Y.6
-
60
-
-
77649290673
-
Impaired replication dynamics at the FRA3B common fragile site
-
Palakodeti A., Lucas I., Jiang Y., Young D.J., Fernald A.A., Karrison T., Le Beau M.M. Impaired replication dynamics at the FRA3B common fragile site. Hum. Mol. Genet. 2010, 19:99-110.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 99-110
-
-
Palakodeti, A.1
Lucas, I.2
Jiang, Y.3
Young, D.J.4
Fernald, A.A.5
Karrison, T.6
Le Beau, M.M.7
-
61
-
-
0036863542
-
Histone acetylation regulates the time of replication origin firing
-
Vogelauer M., Rubbi L., Lucas I., Brewer B.J., Grunstein M. Histone acetylation regulates the time of replication origin firing. Mol. Cell 2002, 10:1223-1233.
-
(2002)
Mol. Cell
, vol.10
, pp. 1223-1233
-
-
Vogelauer, M.1
Rubbi, L.2
Lucas, I.3
Brewer, B.J.4
Grunstein, M.5
-
62
-
-
63249124451
-
Chromatin remodeling finds its place in the DNA double-strand break response
-
Pandita T.K., Richardson C. Chromatin remodeling finds its place in the DNA double-strand break response. Nucleic Acids Res. 2009, 37:1363-1377.
-
(2009)
Nucleic Acids Res.
, vol.37
, pp. 1363-1377
-
-
Pandita, T.K.1
Richardson, C.2
-
63
-
-
79959885574
-
Failure of origin activation in response to fork stalling leads to chromosomal instability at fragile sites
-
Ozeri-Galai E., Lebofsky R., Rahat A., Bester A.C., Bensimon A., Kerem B. Failure of origin activation in response to fork stalling leads to chromosomal instability at fragile sites. Mol. Cell 2011, 43:122-131.
-
(2011)
Mol. Cell
, vol.43
, pp. 122-131
-
-
Ozeri-Galai, E.1
Lebofsky, R.2
Rahat, A.3
Bester, A.C.4
Bensimon, A.5
Kerem, B.6
-
64
-
-
0028874391
-
CGG repeats associated with DNA instability and chromosome fragility form structures that block DNA synthesis in vitro
-
Usdin K., Woodford K.J. CGG repeats associated with DNA instability and chromosome fragility form structures that block DNA synthesis in vitro. Nucleic Acids Res. 1995, 23:4202-4209.
-
(1995)
Nucleic Acids Res.
, vol.23
, pp. 4202-4209
-
-
Usdin, K.1
Woodford, K.J.2
-
65
-
-
59649105477
-
Replisome stalling and stabilization at CGG repeats, which are responsible for chromosomal fragility
-
Voineagu I., Surka C.F., Shishkin A.A., Krasilnikova M.M., Mirkin S.M. Replisome stalling and stabilization at CGG repeats, which are responsible for chromosomal fragility. Nat. Struct. Mol. Biol. 2009, 16:226-228.
-
(2009)
Nat. Struct. Mol. Biol.
, vol.16
, pp. 226-228
-
-
Voineagu, I.1
Surka, C.F.2
Shishkin, A.A.3
Krasilnikova, M.M.4
Mirkin, S.M.5
-
66
-
-
0027176828
-
Association of fragile X syndrome with delayed replication of the FMR1 gene
-
Hansen R.S., Canfield T.K., Lamb M.M., Gartler S.M., Laird C.D. Association of fragile X syndrome with delayed replication of the FMR1 gene. Cell 1993, 73:1403-1409.
-
(1993)
Cell
, vol.73
, pp. 1403-1409
-
-
Hansen, R.S.1
Canfield, T.K.2
Lamb, M.M.3
Gartler, S.M.4
Laird, C.D.5
-
67
-
-
0026700975
-
Delayed replication of Xq27 in individuals with the fragile X syndrome
-
Webb T. Delayed replication of Xq27 in individuals with the fragile X syndrome. Am. J. Med. Genet. 1992, 43:1057-1062.
-
(1992)
Am. J. Med. Genet.
, vol.43
, pp. 1057-1062
-
-
Webb, T.1
-
68
-
-
77952581077
-
Inhibition of topoisomerase I prevents chromosome breakage at common fragile sites
-
Arlt M.F., Glover T.W. Inhibition of topoisomerase I prevents chromosome breakage at common fragile sites. DNA Repair (Amst) 2010, 9:678-689.
-
(2010)
DNA Repair (Amst)
, vol.9
, pp. 678-689
-
-
Arlt, M.F.1
Glover, T.W.2
-
69
-
-
79551661935
-
Cell-type-specific replication initiation programs set fragility of the FRA3B fragile site
-
Letessier A., Millot G.A., Koundrioukoff S., Lachages A.M., Vogt N., Hansen R.S., Malfoy B., Brison O., Debatisse M. Cell-type-specific replication initiation programs set fragility of the FRA3B fragile site. Nature 2011, 470:120-123.
-
(2011)
Nature
, vol.470
, pp. 120-123
-
-
Letessier, A.1
Millot, G.A.2
Koundrioukoff, S.3
Lachages, A.M.4
Vogt, N.5
Hansen, R.S.6
Malfoy, B.7
Brison, O.8
Debatisse, M.9
-
70
-
-
0037074013
-
ATR regulates fragile site stability
-
Casper A.M., Nghiem P., Arlt M.F., Glover T.W. ATR regulates fragile site stability. Cell 2002, 111:779-789.
-
(2002)
Cell
, vol.111
, pp. 779-789
-
-
Casper, A.M.1
Nghiem, P.2
Arlt, M.F.3
Glover, T.W.4
-
71
-
-
41649120947
-
Interplay between ATM and ATR in the regulation of common fragile site stability
-
Ozeri-Galai E., Schwartz M., Rahat A., Kerem B. Interplay between ATM and ATR in the regulation of common fragile site stability. Oncogene 2008, 27:2109-2117.
-
(2008)
Oncogene
, vol.27
, pp. 2109-2117
-
-
Ozeri-Galai, E.1
Schwartz, M.2
Rahat, A.3
Kerem, B.4
-
72
-
-
68049132876
-
The role of DNA damage response pathways in chromosome fragility in Fragile X syndrome
-
Kumari D., Somma V., Nakamura A.J., Bonner W.M., D'Ambrosio E., Usdin K. The role of DNA damage response pathways in chromosome fragility in Fragile X syndrome. Nucleic Acids Res. 2009, 37:4385-4392.
-
(2009)
Nucleic Acids Res.
, vol.37
, pp. 4385-4392
-
-
Kumari, D.1
Somma, V.2
Nakamura, A.J.3
Bonner, W.M.4
D'Ambrosio, E.5
Usdin, K.6
-
73
-
-
33746495515
-
Depletion of CHK1, but not CHK2, induces chromosomal instability and breaks at common fragile sites
-
Durkin S.G., Arlt M.F., Howlett N.G., Glover T.W. Depletion of CHK1, but not CHK2, induces chromosomal instability and breaks at common fragile sites. Oncogene 2006, 25:4381-4388.
-
(2006)
Oncogene
, vol.25
, pp. 4381-4388
-
-
Durkin, S.G.1
Arlt, M.F.2
Howlett, N.G.3
Glover, T.W.4
-
74
-
-
14644391577
-
The Fanconi anemia pathway is required for the DNA replication stress response and for the regulation of common fragile site stability
-
Howlett N.G., Taniguchi T., Durkin S.G., D'Andrea A.D., Glover T.W. The Fanconi anemia pathway is required for the DNA replication stress response and for the regulation of common fragile site stability. Hum. Mol. Genet. 2005, 14:693-701.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 693-701
-
-
Howlett, N.G.1
Taniguchi, T.2
Durkin, S.G.3
D'Andrea, A.D.4
Glover, T.W.5
-
75
-
-
3242712112
-
BRCA1 is required for common-fragile-site stability via its G2/M checkpoint function
-
Arlt M.F., Xu B., Durkin S.G., Casper A.M., Kastan M.B., Glover T.W. BRCA1 is required for common-fragile-site stability via its G2/M checkpoint function. Mol. Cell. Biol. 2004, 24:6701-6709.
-
(2004)
Mol. Cell. Biol.
, vol.24
, pp. 6701-6709
-
-
Arlt, M.F.1
Xu, B.2
Durkin, S.G.3
Casper, A.M.4
Kastan, M.B.5
Glover, T.W.6
-
76
-
-
27744496209
-
Homologous recombination and nonhomologous end-joining repair pathways regulate fragile site stability
-
Schwartz M., Zlotorynski E., Goldberg M., Ozeri E., Rahat A., le Sage C., Chen B.P., Chen D.J., Agami R., Kerem B. Homologous recombination and nonhomologous end-joining repair pathways regulate fragile site stability. Genes Dev. 2005, 19:2715-2726.
-
(2005)
Genes Dev.
, vol.19
, pp. 2715-2726
-
-
Schwartz, M.1
Zlotorynski, E.2
Goldberg, M.3
Ozeri, E.4
Rahat, A.5
le Sage, C.6
Chen, B.P.7
Chen, D.J.8
Agami, R.9
Kerem, B.10
-
77
-
-
70349506809
-
Fragile X prenatal analyses show full mutation females at high risk for mosaic Turner syndrome: fragile X leads to chromosome loss
-
Dobkin C., Radu G., Ding X.H., Brown W.T., Nolin S.L. Fragile X prenatal analyses show full mutation females at high risk for mosaic Turner syndrome: fragile X leads to chromosome loss. Am. J. Med. Genet. A 2009, 149A:2152-2157.
-
(2009)
Am. J. Med. Genet. A
, vol.149 A
, pp. 2152-2157
-
-
Dobkin, C.1
Radu, G.2
Ding, X.H.3
Brown, W.T.4
Nolin, S.L.5
-
78
-
-
35848937244
-
Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos
-
Eiges R., Urbach A., Malcov M., Frumkin T., Schwartz T., Amit A., Yaron Y., Eden A., Yanuka O., Benvenisty N., Ben-Yosef D. Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos. Cell Stem Cell 2007, 1:568-577.
-
(2007)
Cell Stem Cell
, vol.1
, pp. 568-577
-
-
Eiges, R.1
Urbach, A.2
Malcov, M.3
Frumkin, T.4
Schwartz, T.5
Amit, A.6
Yaron, Y.7
Eden, A.8
Yanuka, O.9
Benvenisty, N.10
Ben-Yosef, D.11
-
79
-
-
0032905253
-
Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells
-
Coffee B., Zhang F., Warren S.T., Reines D. Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells. Nat. Genet. 1999, 22:98-101.
-
(1999)
Nat. Genet.
, vol.22
, pp. 98-101
-
-
Coffee, B.1
Zhang, F.2
Warren, S.T.3
Reines, D.4
-
80
-
-
56749106679
-
Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations
-
Tabolacci E., Moscato U., Zalfa F., Bagni C., Chiurazzi P., Neri G. Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations. Eur. J. Hum. Genet. 2008, 16:1487-1498.
-
(2008)
Eur. J. Hum. Genet.
, vol.16
, pp. 1487-1498
-
-
Tabolacci, E.1
Moscato, U.2
Zalfa, F.3
Bagni, C.4
Chiurazzi, P.5
Neri, G.6
-
81
-
-
78149272981
-
The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome
-
Kumari D., Usdin K. The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome. Hum. Mol. Genet. 2010, 19:4634-4642.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 4634-4642
-
-
Kumari, D.1
Usdin, K.2
-
82
-
-
0037100616
-
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine
-
Pietrobono R., Pomponi M.G., Tabolacci E., Oostra B., Chiurazzi P., Neri G. Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine. Nucleic Acids Res. 2002, 30:3278-3285.
-
(2002)
Nucleic Acids Res.
, vol.30
, pp. 3278-3285
-
-
Pietrobono, R.1
Pomponi, M.G.2
Tabolacci, E.3
Oostra, B.4
Chiurazzi, P.5
Neri, G.6
-
83
-
-
0031985868
-
In vitro reactivation of the FMR1 gene involved in fragile X syndrome
-
Chiurazzi P., Pomponi M.G., Willemsen R., Oostra B.A., Neri G. In vitro reactivation of the FMR1 gene involved in fragile X syndrome. Hum. Mol. Genet. 1998, 7:109-113.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 109-113
-
-
Chiurazzi, P.1
Pomponi, M.G.2
Willemsen, R.3
Oostra, B.A.4
Neri, G.5
-
84
-
-
41949125454
-
SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndrome
-
Biacsi R., Kumari D., Usdin K. SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndrome. PLoS Genet. 2008, 4:e1000017.
-
(2008)
PLoS Genet.
, vol.4
-
-
Biacsi, R.1
Kumari, D.2
Usdin, K.3
-
85
-
-
33947722883
-
Elevated FMR1 mRNA in premutation carriers is due to increased transcription
-
Tassone F., Beilina A., Carosi C., Albertosi S., Bagni C., Li L., Glover K., Bentley D., Hagerman P.J. Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA 2007, 13:555-562.
-
(2007)
RNA
, vol.13
, pp. 555-562
-
-
Tassone, F.1
Beilina, A.2
Carosi, C.3
Albertosi, S.4
Bagni, C.5
Li, L.6
Glover, K.7
Bentley, D.8
Hagerman, P.J.9
-
86
-
-
0033940157
-
Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome
-
Tassone F., Hagerman R.J., Taylor A.K., Gane L.W., Godfrey T.E., Hagerman P.J. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am. J. Hum. Genet. 2000, 66:6-15.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 6-15
-
-
Tassone, F.1
Hagerman, R.J.2
Taylor, A.K.3
Gane, L.W.4
Godfrey, T.E.5
Hagerman, P.J.6
-
87
-
-
78650693402
-
Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome
-
Todd P.K., Oh S.Y., Krans A., Pandey U.B., Di Prospero N.A., Min K.T., Taylor J.P., Paulson H.L. Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome. PLoS Genet. 2010, 6:e1001240.
-
(2010)
PLoS Genet.
, vol.6
-
-
Todd, P.K.1
Oh, S.Y.2
Krans, A.3
Pandey, U.B.4
Di Prospero, N.A.5
Min, K.T.6
Taylor, J.P.7
Paulson, H.L.8
-
88
-
-
1542359463
-
Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element
-
Beilina A., Tassone F., Schwartz P.H., Sahota P., Hagerman P.J. Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element. Hum. Mol. Genet. 2004, 13:543-549.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 543-549
-
-
Beilina, A.1
Tassone, F.2
Schwartz, P.H.3
Sahota, P.4
Hagerman, P.J.5
-
89
-
-
0344442391
-
The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by Dicer
-
Handa V., Saha T., Usdin K. The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by Dicer. Nucleic Acids Res. 2003, 31:6243-6248.
-
(2003)
Nucleic Acids Res.
, vol.31
, pp. 6243-6248
-
-
Handa, V.1
Saha, T.2
Usdin, K.3
-
90
-
-
77950529507
-
Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients
-
Sellier C., Rau F., Liu Y., Tassone F., Hukema R.K., Gattoni R., Schneider A., Richard S., Willemsen R., Elliott D.J., Hagerman P.J., Charlet-Berguerand N. Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J. 2010, 29:1248-1261.
-
(2010)
EMBO J.
, vol.29
, pp. 1248-1261
-
-
Sellier, C.1
Rau, F.2
Liu, Y.3
Tassone, F.4
Hukema, R.K.5
Gattoni, R.6
Schneider, A.7
Richard, S.8
Willemsen, R.9
Elliott, D.J.10
Hagerman, P.J.11
Charlet-Berguerand, N.12
-
91
-
-
34547681603
-
Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome
-
Jin P., Duan R., Qurashi A., Qin Y., Tian D., Rosser T.C., Liu H., Feng Y., Warren S.T. Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. Neuron 2007, 55:556-564.
-
(2007)
Neuron
, vol.55
, pp. 556-564
-
-
Jin, P.1
Duan, R.2
Qurashi, A.3
Qin, Y.4
Tian, D.5
Rosser, T.C.6
Liu, H.7
Feng, Y.8
Warren, S.T.9
-
92
-
-
0035920101
-
Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription
-
Sakamoto N., Ohshima K., Montermini L., Pandolfo M., Wells R.D. Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription. J. Biol. Chem. 2001, 276:27171-27177.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 27171-27177
-
-
Sakamoto, N.1
Ohshima, K.2
Montermini, L.3
Pandolfo, M.4
Wells, R.D.5
-
93
-
-
34548775695
-
A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro
-
Grabczyk E., Mancuso M., Sammarco M.C. A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro. Nucleic Acids Res. 2007, 35:5351-5359.
-
(2007)
Nucleic Acids Res.
, vol.35
, pp. 5351-5359
-
-
Grabczyk, E.1
Mancuso, M.2
Sammarco, M.C.3
-
94
-
-
0034660695
-
The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner
-
Grabczyk E., Usdin K. The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner. Nucleic Acids Res. 2000, 28:2815-2822.
-
(2000)
Nucleic Acids Res.
, vol.28
, pp. 2815-2822
-
-
Grabczyk, E.1
Usdin, K.2
-
95
-
-
0034672110
-
Alleviating transcript insufficiency caused by Friedreich's ataxia triplet repeats
-
Grabczyk E., Usdin K. Alleviating transcript insufficiency caused by Friedreich's ataxia triplet repeats. Nucleic Acids Res. 2000, 28:4930-4937.
-
(2000)
Nucleic Acids Res.
, vol.28
, pp. 4930-4937
-
-
Grabczyk, E.1
Usdin, K.2
-
96
-
-
46149111652
-
Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing
-
Baralle M., Pastor T., Bussani E., Pagani F. Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing. Am. J. Hum. Genet. 2008, 83:77-88.
-
(2008)
Am. J. Hum. Genet.
, vol.83
, pp. 77-88
-
-
Baralle, M.1
Pastor, T.2
Bussani, E.3
Pagani, F.4
-
97
-
-
34250830900
-
Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia
-
Greene E., Mahishi L., Entezam A., Kumari D., Usdin K. Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia. Nucleic Acids Res. 2007, 35:3383-3390.
-
(2007)
Nucleic Acids Res.
, vol.35
, pp. 3383-3390
-
-
Greene, E.1
Mahishi, L.2
Entezam, A.3
Kumari, D.4
Usdin, K.5
-
98
-
-
33748778745
-
Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia
-
Herman D., Jenssen K., Burnett R., Soragni E., Perlman S.L., Gottesfeld J.M. Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat. Chem. Biol. 2006, 2:551-558.
-
(2006)
Nat. Chem. Biol.
, vol.2
, pp. 551-558
-
-
Herman, D.1
Jenssen, K.2
Burnett, R.3
Soragni, E.4
Perlman, S.L.5
Gottesfeld, J.M.6
-
99
-
-
79953006870
-
Repeat expansion affects both transcription initiation and elongation in Friedreich ataxia cells
-
Kumari D., Biacsi R.E., Usdin K. Repeat expansion affects both transcription initiation and elongation in Friedreich ataxia cells. J. Biol. Chem. 2011, 286:4209-4215.
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 4209-4215
-
-
Kumari, D.1
Biacsi, R.E.2
Usdin, K.3
-
100
-
-
57349086192
-
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients
-
Castaldo I., Pinelli M., Monticelli A., Acquaviva F., Giacchetti M., Filla A., Sacchetti S., Keller S., Avvedimento V.E., Chiariotti L., Cocozza S. DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients. J. Med. Genet. 2008, 45:808-812.
-
(2008)
J. Med. Genet.
, vol.45
, pp. 808-812
-
-
Castaldo, I.1
Pinelli, M.2
Monticelli, A.3
Acquaviva, F.4
Giacchetti, M.5
Filla, A.6
Sacchetti, S.7
Keller, S.8
Avvedimento, V.E.9
Chiariotti, L.10
Cocozza, S.11
-
101
-
-
7544231794
-
Intragenic DNA methylation alters chromatin structure and elongation efficiency in mammalian cells
-
Lorincz M.C., Dickerson D.R., Schmitt M., Groudine M. Intragenic DNA methylation alters chromatin structure and elongation efficiency in mammalian cells. Nat. Struct. Mol. Biol. 2004, 11:1068-1075.
-
(2004)
Nat. Struct. Mol. Biol.
, vol.11
, pp. 1068-1075
-
-
Lorincz, M.C.1
Dickerson, D.R.2
Schmitt, M.3
Groudine, M.4
-
102
-
-
39749136603
-
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues
-
Al-Mahdawi S., Pinto R.M., Ismail O., Varshney D., Lymperi S., Sandi C., Trabzuni D., Pook M. The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. Hum. Mol. Genet. 2008, 17:735-746.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 735-746
-
-
Al-Mahdawi, S.1
Pinto, R.M.2
Ismail, O.3
Varshney, D.4
Lymperi, S.5
Sandi, C.6
Trabzuni, D.7
Pook, M.8
-
103
-
-
44349114629
-
HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model
-
Rai M., Soragni E., Jenssen K., Burnett R., Herman D., Coppola G., Geschwind D.H., Gottesfeld J.M., Pandolfo M. HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model. PLoS One 2008, 3:e1958.
-
(2008)
PLoS One
, vol.3
-
-
Rai, M.1
Soragni, E.2
Jenssen, K.3
Burnett, R.4
Herman, D.5
Coppola, G.6
Geschwind, D.H.7
Gottesfeld, J.M.8
Pandolfo, M.9
-
104
-
-
70349163898
-
Chemical probes identify a role for histone deacetylase 3 in Friedreich's ataxia gene silencing
-
Xu C., Soragni E., Chou C.J., Herman D., Plasterer H.L., Rusche J.R., Gottesfeld J.M. Chemical probes identify a role for histone deacetylase 3 in Friedreich's ataxia gene silencing. Chem. Biol. 2009, 16:980-989.
-
(2009)
Chem. Biol.
, vol.16
, pp. 980-989
-
-
Xu, C.1
Soragni, E.2
Chou, C.J.3
Herman, D.4
Plasterer, H.L.5
Rusche, J.R.6
Gottesfeld, J.M.7
-
105
-
-
77952530173
-
Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model
-
Rai M., Soragni E., Chou C.J., Barnes G., Jones S., Rusche J.R., Gottesfeld J.M., Pandolfo M. Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model. PLoS One 2010, 5:e8825.
-
(2010)
PLoS One
, vol.5
-
-
Rai, M.1
Soragni, E.2
Chou, C.J.3
Barnes, G.4
Jones, S.5
Rusche, J.R.6
Gottesfeld, J.M.7
Pandolfo, M.8
-
106
-
-
77953659252
-
Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation
-
Punga T., Buhler M. Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation. EMBO Mol. Med. 2010, 2:120-129.
-
(2010)
EMBO Mol. Med.
, vol.2
, pp. 120-129
-
-
Punga, T.1
Buhler, M.2
-
107
-
-
80455149647
-
Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia
-
Kim E., Napierala M., Dent S.Y. Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia. Nucleic Acids Res. 2011, 39:8366-8377.
-
(2011)
Nucleic Acids Res.
, vol.39
, pp. 8366-8377
-
-
Kim, E.1
Napierala, M.2
Dent, S.Y.3
-
108
-
-
0034935016
-
CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus
-
Filippova G.N., Thienes C.P., Penn B.H., Cho D.H., Hu Y.J., Moore J.M., Klesert T.R., Lobanenkov V.V., Tapscott S.J. CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus. Nat. Genet. 2001, 28:335-343.
-
(2001)
Nat. Genet.
, vol.28
, pp. 335-343
-
-
Filippova, G.N.1
Thienes, C.P.2
Penn, B.H.3
Cho, D.H.4
Hu, Y.J.5
Moore, J.M.6
Klesert, T.R.7
Lobanenkov, V.V.8
Tapscott, S.J.9
-
109
-
-
0028099702
-
Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE
-
Parrish J.E., Oostra B.A., Verkerk A.J., Richards C.S., Reynolds J., Spikes A.S., Shaffer L.G., Nelson D.L. Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nat. Genet. 1994, 8:229-235.
-
(1994)
Nat. Genet.
, vol.8
, pp. 229-235
-
-
Parrish, J.E.1
Oostra, B.A.2
Verkerk, A.J.3
Richards, C.S.4
Reynolds, J.5
Spikes, A.S.6
Shaffer, L.G.7
Nelson, D.L.8
-
110
-
-
2942564233
-
Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein
-
Sarafidou T., Kahl C., Martinez-Garay I., Mangelsdorf M., Gesk S., Baker E., Kokkinaki M., Talley P., Maltby E.L., French L., Harder L., Hinzmann B., Nobile C., Richkind K., Finnis M., Deloukas P., Sutherland G.R., Kutsche K., Moschonas N.K., Siebert R., Gecz J. Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein. Genomics 2004, 84:69-81.
-
(2004)
Genomics
, vol.84
, pp. 69-81
-
-
Sarafidou, T.1
Kahl, C.2
Martinez-Garay, I.3
Mangelsdorf, M.4
Gesk, S.5
Baker, E.6
Kokkinaki, M.7
Talley, P.8
Maltby, E.L.9
French, L.10
Harder, L.11
Hinzmann, B.12
Nobile, C.13
Richkind, K.14
Finnis, M.15
Deloukas, P.16
Sutherland, G.R.17
Kutsche, K.18
Moschonas, N.K.19
Siebert, R.20
Gecz, J.21
more..
-
111
-
-
33846611373
-
CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1
-
Winnepenninckx B., Debacker K., Ramsay J., Smeets D., Smits A., FitzPatrick D.R., Kooy R.F. CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1. Am. J. Hum. Genet. 2007, 80:221-231.
-
(2007)
Am. J. Hum. Genet.
, vol.80
, pp. 221-231
-
-
Winnepenninckx, B.1
Debacker, K.2
Ramsay, J.3
Smeets, D.4
Smits, A.5
FitzPatrick, D.R.6
Kooy, R.F.7
-
112
-
-
0027981933
-
Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis
-
Nancarrow J.K., Kremer E., Holman K., Eyre H., Doggett N.A., Le Paslier D., Callen D.F., Sutherland G.R., Richards R.I. Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis. Science 1994, 264:1938-1941.
-
(1994)
Science
, vol.264
, pp. 1938-1941
-
-
Nancarrow, J.K.1
Kremer, E.2
Holman, K.3
Eyre, H.4
Doggett, N.A.5
Le Paslier, D.6
Callen, D.F.7
Sutherland, G.R.8
Richards, R.I.9
-
113
-
-
0028896099
-
Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2
-
Jones C., Penny L., Mattina T., Yu S., Baker E., Voullaire L., Langdon W.Y., Sutherland G.R., Richards R.I., Tunnacliffe A. Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2. Nature 1995, 376:145-149.
-
(1995)
Nature
, vol.376
, pp. 145-149
-
-
Jones, C.1
Penny, L.2
Mattina, T.3
Yu, S.4
Baker, E.5
Voullaire, L.6
Langdon, W.Y.7
Sutherland, G.R.8
Richards, R.I.9
Tunnacliffe, A.10
-
114
-
-
0028567730
-
The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter
-
Ritchie R.J., Knight S.J., Hirst M.C., Grewal P.K., Bobrow M., Cross G.S., Davies K.E. The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter. Hum. Mol. Genet. 1994, 3:2115-2121.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 2115-2121
-
-
Ritchie, R.J.1
Knight, S.J.2
Hirst, M.C.3
Grewal, P.K.4
Bobrow, M.5
Cross, G.S.6
Davies, K.E.7
-
115
-
-
0027991895
-
Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap
-
Knight S.J., Voelckel M.A., Hirst M.C., Flannery A.V., Moncla A., Davies K.E. Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap. Am. J. Hum. Genet. 1994, 55:81-86.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 81-86
-
-
Knight, S.J.1
Voelckel, M.A.2
Hirst, M.C.3
Flannery, A.V.4
Moncla, A.5
Davies, K.E.6
-
116
-
-
0029053371
-
Trinucleotide repeats that expand in human disease form hairpin structures in vitro
-
Gacy A.M., Goellner G., Juranic N., Macura S., McMurray C.T. Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell 1995, 81:533-540.
-
(1995)
Cell
, vol.81
, pp. 533-540
-
-
Gacy, A.M.1
Goellner, G.2
Juranic, N.3
Macura, S.4
McMurray, C.T.5
-
117
-
-
0032012128
-
GAA instability in Friedreich's Ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases
-
Gacy A.M., Goellner G.M., Spiro C., Chen X., Gupta G., Bradbury E.M., Dyer R.B., Mikesell M.J., Yao J.Z., Johnson A.J., Richter A., Melancon S.B., McMurray C.T. GAA instability in Friedreich's Ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases. Mol. Cell 1998, 1:583-593.
-
(1998)
Mol. Cell
, vol.1
, pp. 583-593
-
-
Gacy, A.M.1
Goellner, G.M.2
Spiro, C.3
Chen, X.4
Gupta, G.5
Bradbury, E.M.6
Dyer, R.B.7
Mikesell, M.J.8
Yao, J.Z.9
Johnson, A.J.10
Richter, A.11
Melancon, S.B.12
McMurray, C.T.13
-
118
-
-
0028957039
-
Hairpin properties of single-stranded DNA containing a GC-rich triplet repeat: (CTG)15
-
Mitas M., Yu A., Dill J., Kamp T.J., Chambers E.J., Haworth I.S. Hairpin properties of single-stranded DNA containing a GC-rich triplet repeat: (CTG)15. Nucleic Acids Res. 1995, 23:1050-1059.
-
(1995)
Nucleic Acids Res.
, vol.23
, pp. 1050-1059
-
-
Mitas, M.1
Yu, A.2
Dill, J.3
Kamp, T.J.4
Chambers, E.J.5
Haworth, I.S.6
-
119
-
-
0028889383
-
The purine-rich trinucleotide repeat sequences d(CAG)15 and d(GAC)15 form hairpins
-
Yu A., Dill J., Mitas M. The purine-rich trinucleotide repeat sequences d(CAG)15 and d(GAC)15 form hairpins. Nucleic Acids Res. 1995, 23:4055-4057.
-
(1995)
Nucleic Acids Res.
, vol.23
, pp. 4055-4057
-
-
Yu, A.1
Dill, J.2
Mitas, M.3
-
120
-
-
0030999988
-
At physiological pH, d(CCG)15 forms a hairpin containing protonated cytosines and a distorted helix
-
Yu A., Barron M.D., Romero R.M., Christy M., Gold B., Dai J., Gray D.M., Haworth I.S., Mitas M. At physiological pH, d(CCG)15 forms a hairpin containing protonated cytosines and a distorted helix. Biochemistry 1997, 36:3687-3699.
-
(1997)
Biochemistry
, vol.36
, pp. 3687-3699
-
-
Yu, A.1
Barron, M.D.2
Romero, R.M.3
Christy, M.4
Gold, B.5
Dai, J.6
Gray, D.M.7
Haworth, I.S.8
Mitas, M.9
-
121
-
-
0033579912
-
Structural properties of Friedreich's ataxia d(GAA) repeats
-
Suen I.S., Rhodes J.N., Christy M., McEwen B., Gray D.M., Mitas M. Structural properties of Friedreich's ataxia d(GAA) repeats. Biochim. Biophys. Acta 1999, 1444:14-24.
-
(1999)
Biochim. Biophys. Acta
, vol.1444
, pp. 14-24
-
-
Suen, I.S.1
Rhodes, J.N.2
Christy, M.3
McEwen, B.4
Gray, D.M.5
Mitas, M.6
-
122
-
-
0037462828
-
Hairpin formation in Friedreich's ataxia triplet repeat expansion
-
Heidenfelder B.L., Makhov A.M., Topal M.D. Hairpin formation in Friedreich's ataxia triplet repeat expansion. J. Biol. Chem. 2003, 278:2425-2431.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 2425-2431
-
-
Heidenfelder, B.L.1
Makhov, A.M.2
Topal, M.D.3
-
123
-
-
0042528729
-
Heterochromatin and epigenetic control of gene expression
-
Grewal S.I., Moazed D. Heterochromatin and epigenetic control of gene expression. Science 2003, 301:798-802.
-
(2003)
Science
, vol.301
, pp. 798-802
-
-
Grewal, S.I.1
Moazed, D.2
-
124
-
-
79959919987
-
Tight protein-DNA interactions favor gene silencing
-
Dubarry M., Loiodice I., Chen C.L.L., Thermes C., Taddei A. Tight protein-DNA interactions favor gene silencing. Genet. Dev. 2011, 25:1365-1370.
-
(2011)
Genet. Dev.
, vol.25
, pp. 1365-1370
-
-
Dubarry, M.1
Loiodice, I.2
Chen, C.L.L.3
Thermes, C.4
Taddei, A.5
-
125
-
-
1542344344
-
Replication stalling at Friedreich's ataxia (GAA)n repeats in vivo
-
Krasilnikova M.M., Mirkin S.M. Replication stalling at Friedreich's ataxia (GAA)n repeats in vivo. Mol. Cell. Biol. 2004, 24:2286-2295.
-
(2004)
Mol. Cell. Biol.
, vol.24
, pp. 2286-2295
-
-
Krasilnikova, M.M.1
Mirkin, S.M.2
-
126
-
-
50849104569
-
Double strand breaks can initiate gene silencing and SIRT1-dependent onset of DNA methylation in an exogenous promoter CpG island
-
O'Hagan H.M., Mohammad H.P., Baylin S.B. Double strand breaks can initiate gene silencing and SIRT1-dependent onset of DNA methylation in an exogenous promoter CpG island. PLoS Genet. 2008, 4:e1000155.
-
(2008)
PLoS Genet.
, vol.4
-
-
O'Hagan, H.M.1
Mohammad, H.P.2
Baylin, S.B.3
-
127
-
-
67650501195
-
Structure-dependent DNA damage and repair in a trinucleotide repeat sequence
-
Jarem D.A., Wilson N.R., Delaney S. Structure-dependent DNA damage and repair in a trinucleotide repeat sequence. Biochemistry 2009, 48:6655-6663.
-
(2009)
Biochemistry
, vol.48
, pp. 6655-6663
-
-
Jarem, D.A.1
Wilson, N.R.2
Delaney, S.3
-
128
-
-
54049138948
-
Kcnq1ot1 antisense noncoding RNA mediates lineage-specific transcriptional silencing through chromatin-level regulation
-
Pandey R.R., Mondal T., Mohammad F., Enroth S., Redrup L., Komorowski J., Nagano T., Mancini-Dinardo D., Kanduri C. Kcnq1ot1 antisense noncoding RNA mediates lineage-specific transcriptional silencing through chromatin-level regulation. Mol. Cell 2008, 32:232-246.
-
(2008)
Mol. Cell
, vol.32
, pp. 232-246
-
-
Pandey, R.R.1
Mondal, T.2
Mohammad, F.3
Enroth, S.4
Redrup, L.5
Komorowski, J.6
Nagano, T.7
Mancini-Dinardo, D.8
Kanduri, C.9
-
129
-
-
34250729138
-
Functional demarcation of active and silent chromatin domains in human HOX loci by noncoding RNAs
-
Rinn J.L., Kertesz M., Wang J.K., Squazzo S.L., Xu X., Brugmann S.A., Goodnough L.H., Helms J.A., Farnham P.J., Segal E., Chang H.Y. Functional demarcation of active and silent chromatin domains in human HOX loci by noncoding RNAs. Cell 2007, 129:1311-1323.
-
(2007)
Cell
, vol.129
, pp. 1311-1323
-
-
Rinn, J.L.1
Kertesz, M.2
Wang, J.K.3
Squazzo, S.L.4
Xu, X.5
Brugmann, S.A.6
Goodnough, L.H.7
Helms, J.A.8
Farnham, P.J.9
Segal, E.10
Chang, H.Y.11
-
130
-
-
27644525713
-
Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF
-
Cho D.H., Thienes C.P., Mahoney S.E., Analau E., Filippova G.N., Tapscott S.J. Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF. Mol. Cell 2005, 20:483-489.
-
(2005)
Mol. Cell
, vol.20
, pp. 483-489
-
-
Cho, D.H.1
Thienes, C.P.2
Mahoney, S.E.3
Analau, E.4
Filippova, G.N.5
Tapscott, S.J.6
-
131
-
-
36248967098
-
An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals
-
Ladd P.D., Smith L.E., Rabaia N.A., Moore J.M., Georges S.A., Hansen R.S., Hagerman R.J., Tassone F., Tapscott S.J., Filippova G.N. An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. Hum. Mol. Genet. 2007, 16:3174-3187.
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 3174-3187
-
-
Ladd, P.D.1
Smith, L.E.2
Rabaia, N.A.3
Moore, J.M.4
Georges, S.A.5
Hansen, R.S.6
Hagerman, R.J.7
Tassone, F.8
Tapscott, S.J.9
Filippova, G.N.10
-
132
-
-
70949099119
-
Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription
-
De Biase I., Chutake Y.K., Rindler P.M., Bidichandani S.I. Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription. PLoS One 2009, 4:e7914.
-
(2009)
PLoS One
, vol.4
-
-
De Biase, I.1
Chutake, Y.K.2
Rindler, P.M.3
Bidichandani, S.I.4
-
133
-
-
80053045739
-
Molecular mechanisms of long noncoding RNAs
-
Wang K.C., Chang H.Y. Molecular mechanisms of long noncoding RNAs. Mol. Cell 2011, 43:904-914.
-
(2011)
Mol. Cell
, vol.43
, pp. 904-914
-
-
Wang, K.C.1
Chang, H.Y.2
-
134
-
-
0037072661
-
Regulation of heterochromatic silencing and histone H3 lysine-9 methylation by RNAi
-
Volpe T.A., Kidner C., Hall I.M., Teng G., Grewal S.I., Martienssen R.A. Regulation of heterochromatic silencing and histone H3 lysine-9 methylation by RNAi. Science 2002, 297:1833-1837.
-
(2002)
Science
, vol.297
, pp. 1833-1837
-
-
Volpe, T.A.1
Kidner, C.2
Hall, I.M.3
Teng, G.4
Grewal, S.I.5
Martienssen, R.A.6
-
135
-
-
33847077134
-
Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specific targets
-
Krol J., Fiszer A., Mykowska A., Sobczak K., de Mezer M., Krzyzosiak W.J. Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specific targets. Mol. Cell 2007, 25:575-586.
-
(2007)
Mol. Cell
, vol.25
, pp. 575-586
-
-
Krol, J.1
Fiszer, A.2
Mykowska, A.3
Sobczak, K.4
de Mezer, M.5
Krzyzosiak, W.J.6
-
136
-
-
61449238441
-
Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes
-
Ikeda Y., Daughters R.S., Ranum L.P. Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes. Cerebellum 2008, 7:150-158.
-
(2008)
Cerebellum
, vol.7
, pp. 150-158
-
-
Ikeda, Y.1
Daughters, R.S.2
Ranum, L.P.3
-
138
-
-
18344379670
-
A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2
-
Holmes S.E., O'Hearn E., Rosenblatt A., Callahan C., Hwang H.S., Ingersoll-Ashworth R.G., Fleisher A., Stevanin G., Brice A., Potter N.T., Ross C.A., Margolis R.L. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nat. Genet. 2001, 29:377-378.
-
(2001)
Nat. Genet.
, vol.29
, pp. 377-378
-
-
Holmes, S.E.1
O'Hearn, E.2
Rosenblatt, A.3
Callahan, C.4
Hwang, H.S.5
Ingersoll-Ashworth, R.G.6
Fleisher, A.7
Stevanin, G.8
Brice, A.9
Potter, N.T.10
Ross, C.A.11
Margolis, R.L.12
-
139
-
-
0028989063
-
Translational suppression by trinucleotide repeat expansion at FMR1
-
Feng Y., Zhang F., Lokey L.K., Chastain J.L., Lakkis L., Eberhart D., Warren S.T. Translational suppression by trinucleotide repeat expansion at FMR1. Science 1995, 268:731-734.
-
(1995)
Science
, vol.268
, pp. 731-734
-
-
Feng, Y.1
Zhang, F.2
Lokey, L.K.3
Chastain, J.L.4
Lakkis, L.5
Eberhart, D.6
Warren, S.T.7
-
140
-
-
79961129446
-
Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles
-
Tassone F., De Rubeis S., Carosi C., La Fata G., Serpa G., Raske C., Willemsen R., Hagerman P.J., Bagni C. Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles. Nucleic Acids Res. 2011, 39:6172-6185.
-
(2011)
Nucleic Acids Res.
, vol.39
, pp. 6172-6185
-
-
Tassone, F.1
De Rubeis, S.2
Carosi, C.3
La Fata, G.4
Serpa, G.5
Raske, C.6
Willemsen, R.7
Hagerman, P.J.8
Bagni, C.9
-
141
-
-
70349469565
-
Mechanisms of polycomb gene silencing: knowns and unknowns
-
Simon J.A., Kingston R.E. Mechanisms of polycomb gene silencing: knowns and unknowns. Nat. Rev. Mol. Cell Biol. 2009, 10:697-708.
-
(2009)
Nat. Rev. Mol. Cell Biol.
, vol.10
, pp. 697-708
-
-
Simon, J.A.1
Kingston, R.E.2
|