-
1
-
-
84878020795
-
Multiple interaction partners for Cockayne syndrome proteins: implications for genome and transcriptome maintenance
-
Aamann MD, Muftuoglu M, Bohr VA, Stevnsner T. 2013. Multiple interaction partners for Cockayne syndrome proteins: implications for genome and transcriptome maintenance. Mech Ageing Dev 134:212-224.
-
(2013)
Mech Ageing Dev
, vol.134
, pp. 212-224
-
-
Aamann, M.D.1
Muftuoglu, M.2
Bohr, V.A.3
Stevnsner, T.4
-
2
-
-
26944458866
-
8-Oxoguanine DNA glycosylase, but not Kin17 protein, is translocated and differentially regulated by estrogens in rat brain cells
-
Araneda S, Pelloux S, Radicella JP, Angulo J, Kitahama K, Gysling K, Forray MI. 2005. 8-Oxoguanine DNA glycosylase, but not Kin17 protein, is translocated and differentially regulated by estrogens in rat brain cells. Neuroscience 136:135-146.
-
(2005)
Neuroscience
, vol.136
, pp. 135-146
-
-
Araneda, S.1
Pelloux, S.2
Radicella, J.P.3
Angulo, J.4
Kitahama, K.5
Gysling, K.6
Forray, M.I.7
-
3
-
-
0034213597
-
Impact of global genome repair versus transcription-coupled repair on ultraviolet carcinogenesis in hairless mice
-
Berg RJ, Rebel H, van der Horst GT, van Kranen HJ, Mullenders LH, van Vloten WA, de Gruijl FR. 2000. Impact of global genome repair versus transcription-coupled repair on ultraviolet carcinogenesis in hairless mice. Cancer Res 60:2858-2863.
-
(2000)
Cancer Res
, vol.60
, pp. 2858-2863
-
-
Berg, R.J.1
Rebel, H.2
van der Horst, G.T.3
van Kranen, H.J.4
Mullenders, L.H.5
van Vloten, W.A.6
de Gruijl, F.R.7
-
4
-
-
84865767406
-
p53, a target of estrogen receptor (ER) alpha, modulates DNA damage-induced growth suppression in ER-positive breast cancer cells
-
Berger CE, Qian Y, Liu G, Chen H, Chen X. 2012. p53, a target of estrogen receptor (ER) alpha, modulates DNA damage-induced growth suppression in ER-positive breast cancer cells. J Biol Chem 287:30117-30127.
-
(2012)
J Biol Chem
, vol.287
, pp. 30117-30127
-
-
Berger, C.E.1
Qian, Y.2
Liu, G.3
Chen, H.4
Chen, X.5
-
5
-
-
56749165180
-
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome
-
Brouwer JR, Huizer K, Severijnen LA, Hukema RK, Berman RF, Oostra BA, Willemsen R. 2008. CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. J Neurochem 107:1671-1682.
-
(2008)
J Neurochem
, vol.107
, pp. 1671-1682
-
-
Brouwer, J.R.1
Huizer, K.2
Severijnen, L.A.3
Hukema, R.K.4
Berman, R.F.5
Oostra, B.A.6
Willemsen, R.7
-
6
-
-
2442535038
-
Prepubertal estradiol and genistein exposures up-regulate BRCA1 mRNA and reduce mammary tumorigenesis
-
Cabanes A, Wang M, Olivo S, DeAssis S, Gustafsson JA, Khan G, Hilakivi-Clarke L. 2004. Prepubertal estradiol and genistein exposures up-regulate BRCA1 mRNA and reduce mammary tumorigenesis. Carcinogenesis 25:741-748.
-
(2004)
Carcinogenesis
, vol.25
, pp. 741-748
-
-
Cabanes, A.1
Wang, M.2
Olivo, S.3
DeAssis, S.4
Gustafsson, J.A.5
Khan, G.6
Hilakivi-Clarke, L.7
-
7
-
-
84884602336
-
17beta-Estradiol increases expression of the oxidative stress response and DNA repair protein apurinic endonuclease (Ape1) in the cerebral cortex of female mice following hypoxia
-
Dietrich AK, Humphreys GI, Nardulli AM. 2013. 17beta-Estradiol increases expression of the oxidative stress response and DNA repair protein apurinic endonuclease (Ape1) in the cerebral cortex of female mice following hypoxia. J Steroid Biochem Mol Biol 138:410-420.
-
(2013)
J Steroid Biochem Mol Biol
, vol.138
, pp. 410-420
-
-
Dietrich, A.K.1
Humphreys, G.I.2
Nardulli, A.M.3
-
8
-
-
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 ET, Friedberg EC, Kucherlapati R, Edelmann W, Lunetta KL, MacDonald ME, Wheeler VC. 2009. Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes. Neurobiol Dis 33:37-47.
-
(2009)
Neurobiol Dis
, vol.33
, pp. 37-47
-
-
Dragileva, E.1
Hendricks, A.2
Teed, A.3
Gillis, T.4
Lopez, E.T.5
Friedberg, E.C.6
Kucherlapati, R.7
Edelmann, W.8
Lunetta, K.L.9
MacDonald, M.E.10
Wheeler, V.C.11
-
9
-
-
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 GE, Grabczyk E, Nussbaum RL, Usdin K. 2007. Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model. Gene 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
-
10
-
-
77951773059
-
Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model
-
Entezam A, Lokanga AR, Le W, Hoffman G, Usdin K. 2010. Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model. Hum Mutat 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
-
11
-
-
39549086548
-
ATR protects the genome against CGG.CCG-repeat expansion in Fragile X premutation mice
-
Entezam A, Usdin K. 2008. ATR protects the genome against CGG.CCG-repeat expansion in Fragile X premutation mice. Nucleic Acids Res 36:1050-1056.
-
(2008)
Nucleic Acids Res
, vol.36
, pp. 1050-1056
-
-
Entezam, A.1
Usdin, K.2
-
12
-
-
71049195737
-
ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice
-
Entezam A, Usdin K. 2009. ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice. Nucleic Acids Res 37:6371-6377.
-
(2009)
Nucleic Acids Res
, vol.37
, pp. 6371-6377
-
-
Entezam, A.1
Usdin, K.2
-
13
-
-
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, Riele H, Junien C, 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
Riele, H.5
Junien, C.6
Gourdon, G.7
-
14
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox
-
Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG Jr., Warren ST, Oostra BA, Nelson DL, Caskey CT. 1991. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 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 Jr., R.G.9
Warren, S.T.10
Oostra, B.A.11
Nelson, D.L.12
Caskey, C.T.13
-
16
-
-
84865505286
-
DNA mismatch repair complex MutSbeta promotes GAA.TTC repeat expansion in human cells
-
Halabi A, Ditch S, Wang J, Grabczyk E. 2012. DNA mismatch repair complex MutSbeta promotes GAA.TTC repeat expansion in human cells. J Biol Chem 287:29958-29967.
-
(2012)
J Biol Chem
, vol.287
, pp. 29958-29967
-
-
Halabi, A.1
Ditch, S.2
Wang, J.3
Grabczyk, E.4
-
17
-
-
81855206487
-
Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1
-
Hubert L Jr., Lin Y, Dion V, Wilson JH. 2011. Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1. Hum Mol Genet 20:4822-4830.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 4822-4830
-
-
Hubert Jr., L.1
Lin, Y.2
Dion, V.3
Wilson, J.H.4
-
18
-
-
77955438748
-
Estrogen stimulates the expression of mismatch repair gene hMLH1 in colonic epithelial cells
-
Jin P, Lu XJ, Sheng JQ, Fu L, Meng XM, Wang X, Shi TP, Li SR, Rao J. 2010. Estrogen stimulates the expression of mismatch repair gene hMLH1 in colonic epithelial cells. Cancer Prev Res (Phila) 3:910-916.
-
(2010)
Cancer Prev Res (Phila)
, vol.3
, pp. 910-916
-
-
Jin, P.1
Lu, X.J.2
Sheng, J.Q.3
Fu, L.4
Meng, X.M.5
Wang, X.6
Shi, T.P.7
Li, S.R.8
Rao, J.9
-
19
-
-
34147136044
-
CREB-binding protein modulates repeat instability in a Drosophila model for polyQ disease
-
Jung J, Bonini N. 2007. CREB-binding protein modulates repeat instability in a Drosophila model for polyQ disease. Science 315:1857-1859.
-
(2007)
Science
, vol.315
, pp. 1857-1859
-
-
Jung, J.1
Bonini, N.2
-
20
-
-
79960328293
-
Cockayne syndrome B protein antagonizes OGG1 in modulating CAG repeat length in vivo
-
Kovtun IV, Johnson KO, McMurray CT. 2011. Cockayne syndrome B protein antagonizes OGG1 in modulating CAG repeat length in vivo. Aging (Albany NY) 3:509-514.
-
(2011)
Aging (Albany NY)
, vol.3
, pp. 509-514
-
-
Kovtun, I.V.1
Johnson, K.O.2
McMurray, C.T.3
-
21
-
-
0034326903
-
Gender of the embryo contributes to CAG instability in transgenic mice containing a Huntington's disease gene
-
Kovtun IV, Therneau TM, McMurray CT. 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
-
22
-
-
77952255626
-
A novel approach to investigate tissue-specific trinucleotide repeat instability
-
Lee JM, Zhang J, Su AI, Walker JR, Wiltshire T, Kang K, Dragileva E, Gillis T, Lopez ET, Boily MJ, Cyr M, Kohane I, et al. 2010. A novel approach to investigate tissue-specific trinucleotide repeat instability. BMC Syst Biol 4:29.
-
(2010)
BMC Syst Biol
, vol.4
, pp. 29
-
-
Lee, J.M.1
Zhang, J.2
Su, A.I.3
Walker, J.R.4
Wiltshire, T.5
Kang, K.6
Dragileva, E.7
Gillis, T.8
Lopez, E.T.9
Boily, M.J.10
Cyr, M.11
Kohane, I.12
-
23
-
-
1942425955
-
Interaction of estrogen receptor alpha with 3-methyladenine DNA glycosylase modulates transcription and DNA repair
-
Likhite VS, Cass EI, Anderson SD, Yates JR, Nardulli AM. 2004. Interaction of estrogen receptor alpha with 3-methyladenine DNA glycosylase modulates transcription and DNA repair. J Biol Chem 279:16875-16882.
-
(2004)
J Biol Chem
, vol.279
, pp. 16875-16882
-
-
Likhite, V.S.1
Cass, E.I.2
Anderson, S.D.3
Yates, J.R.4
Nardulli, A.M.5
-
24
-
-
65249130165
-
Transcription destabilizes triplet repeats
-
Lin Y, Hubert L Jr., Wilson JH. 2009. Transcription destabilizes triplet repeats. Mol Carcinog 48:350-361.
-
(2009)
Mol Carcinog
, vol.48
, pp. 350-361
-
-
Lin, Y.1
Hubert Jr., L.2
Wilson, J.H.3
-
25
-
-
34548204316
-
Transcription-induced CAG repeat contraction in human cells is mediated in part by transcription-coupled nucleotide excision repair
-
Lin Y, Wilson JH. 2007. Transcription-induced CAG repeat contraction in human cells is mediated in part by transcription-coupled nucleotide excision repair. Mol Cell Biol 27:6209-6217.
-
(2007)
Mol Cell Biol
, vol.27
, pp. 6209-6217
-
-
Lin, Y.1
Wilson, J.H.2
-
26
-
-
84871618769
-
Somatic expansion in mouse and human carriers of Fragile X premutation alleles
-
Lokanga RA, Entezam A, Kumari D, Yudkin D, Qin M, Smith CB, Usdin K. 2013a. Somatic expansion in mouse and human carriers of Fragile X premutation alleles. Hum Mutat 34:157-166.
-
(2013)
Hum Mutat
, vol.34
, pp. 157-166
-
-
Lokanga, R.A.1
Entezam, A.2
Kumari, D.3
Yudkin, D.4
Qin, M.5
Smith, C.B.6
Usdin, K.7
-
27
-
-
84890803414
-
The mismatch repair protein, MSH2, is rate-limiting for repeat expansion in a Fragile X premutation mouse model
-
Lokanga RA, Zhao X-N, Usdin K. 2013b. The mismatch repair protein, MSH2, is rate-limiting for repeat expansion in a Fragile X premutation mouse model. Hum Mutat. 35:129-136.
-
(2013)
Hum Mutat
, vol.35
, pp. 129-136
-
-
Lokanga, R.A.1
Zhao, X.-N.2
Usdin, K.3
-
28
-
-
16044373842
-
Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
-
Mangiarini L, Sathasivam K, Seller M, Cozens B, Harper A, Hetherington C, Lawton M, Trottier Y, Lehrach H, Davies SW, Bates GP. 1996. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87:493-506.
-
(1996)
Cell
, vol.87
, pp. 493-506
-
-
Mangiarini, L.1
Sathasivam, K.2
Seller, M.3
Cozens, B.4
Harper, A.5
Hetherington, C.6
Lawton, M.7
Trottier, Y.8
Lehrach, H.9
Davies, S.W.10
Bates, G.P.11
-
29
-
-
77649274595
-
Transcriptional activation of DNA-dependent protein kinase catalytic subunit gene expression by oestrogen receptor-alpha
-
Medunjanin S, Weinert S, Poitz D, Schmeisser A, Strasser RH, Braun-Dullaeus RC. 2010. Transcriptional activation of DNA-dependent protein kinase catalytic subunit gene expression by oestrogen receptor-alpha. EMBO Rep 11:208-213.
-
(2010)
EMBO Rep
, vol.11
, pp. 208-213
-
-
Medunjanin, S.1
Weinert, S.2
Poitz, D.3
Schmeisser, A.4
Strasser, R.H.5
Braun-Dullaeus, R.C.6
-
30
-
-
84871959255
-
Nucleotide excision repair-initiating proteins bind to oxidative DNA lesions in vivo
-
Menoni H, Hoeijmakers JH, Vermeulen W. 2012. Nucleotide excision repair-initiating proteins bind to oxidative DNA lesions in vivo. J Cell Biol 199:1037-1046.
-
(2012)
J Cell Biol
, vol.199
, pp. 1037-1046
-
-
Menoni, H.1
Hoeijmakers, J.H.2
Vermeulen, W.3
-
31
-
-
33744807443
-
DNA structures, repeat expansions and human hereditary disorders
-
Mirkin SM. 2006. DNA structures, repeat expansions and human hereditary disorders. Curr Opin Struct Biol 16:351-358.
-
(2006)
Curr Opin Struct Biol
, vol.16
, pp. 351-358
-
-
Mirkin, S.M.1
-
32
-
-
33748755544
-
Estrogen up-regulates mismatch repair activity in normal and malignant endometrial glandular cells
-
Miyamoto T, Shiozawa T, Kashima H, Feng YZ, Suzuki A, Kurai M, Nikaido T, Konishi I. 2006. Estrogen up-regulates mismatch repair activity in normal and malignant endometrial glandular cells. Endocrinology 147:4863-4870.
-
(2006)
Endocrinology
, vol.147
, pp. 4863-4870
-
-
Miyamoto, T.1
Shiozawa, T.2
Kashima, H.3
Feng, Y.Z.4
Suzuki, A.5
Kurai, M.6
Nikaido, T.7
Konishi, I.8
-
33
-
-
84868115310
-
Neil1 is a genetic modifier of somatic and germline CAG trinucleotide repeat instability in R6/1 mice
-
3rd
-
Mollersen L, Rowe AD, Illuzzi JL, Hildrestrand GA, Gerhold KJ, Tveteras L, Bjolgerud A, Wilson DM, 3rd, Bjoras M, Klungland A. 2012. Neil1 is a genetic modifier of somatic and germline CAG trinucleotide repeat instability in R6/1 mice. Hum Mol Genet 21:4939-4947.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 4939-4947
-
-
Mollersen, L.1
Rowe, A.D.2
Illuzzi, J.L.3
Hildrestrand, G.A.4
Gerhold, K.J.5
Tveteras, L.6
Bjolgerud, A.7
Wilson, D.M.8
Bjoras, M.9
Klungland, A.10
-
34
-
-
0034899080
-
Gender differences in autoantibodies to oxidative DNA base damage in cigarette smokers
-
Mooney LA, Perera FP, Van Bennekum AM, Blaner WS, Karkoszka J, Covey L, Hsu Y, Cooper TB, Frenkel K. 2001. Gender differences in autoantibodies to oxidative DNA base damage in cigarette smokers. Cancer Epidemiol Biomarkers Prev 10:641-648.
-
(2001)
Cancer Epidemiol Biomarkers Prev
, vol.10
, pp. 641-648
-
-
Mooney, L.A.1
Perera, F.P.2
Van Bennekum, A.M.3
Blaner, W.S.4
Karkoszka, J.5
Covey, L.6
Hsu, Y.7
Cooper, T.B.8
Frenkel, K.9
-
35
-
-
66149114804
-
Cockayne syndrome group B protein stimulates repair of formamidopyrimidines by NEIL1 DNA glycosylase
-
Muftuoglu M, de Souza-Pinto NC, Dogan A, Aamann M, Stevnsner T, Rybanska I, Kirkali G, Dizdaroglu M, Bohr VA. 2009. Cockayne syndrome group B protein stimulates repair of formamidopyrimidines by NEIL1 DNA glycosylase. J Biol Chem 284:9270-9279.
-
(2009)
J Biol Chem
, vol.284
, pp. 9270-9279
-
-
Muftuoglu, M.1
de Souza-Pinto, N.C.2
Dogan, A.3
Aamann, M.4
Stevnsner, T.5
Rybanska, I.6
Kirkali, G.7
Dizdaroglu, M.8
Bohr, V.A.9
-
36
-
-
0001628725
-
Oestradiol inhibits spontaneous and cisplatin-induced apoptosis in epithelial ovarian cancer cells: relationship to DNA repair capacity
-
Murdoch WJ, Van Kirk EA. 1997. Oestradiol inhibits spontaneous and cisplatin-induced apoptosis in epithelial ovarian cancer cells: relationship to DNA repair capacity. Apoptosis 2:478-484.
-
(1997)
Apoptosis
, vol.2
, pp. 478-484
-
-
Murdoch, W.J.1
Van Kirk, E.A.2
-
37
-
-
0035117513
-
Estrogenic upregulation of DNA polymerase beta in oocytes of preovulatory ovine follicles
-
Murdoch WJ, Van Kirk EA. 2001. Estrogenic upregulation of DNA polymerase beta in oocytes of preovulatory ovine follicles. Mol Reprod Dev 58:417-423.
-
(2001)
Mol Reprod Dev
, vol.58
, pp. 417-423
-
-
Murdoch, W.J.1
Van Kirk, E.A.2
-
38
-
-
33745460647
-
Cockayne syndrome group B protein (CSB) plays a general role in chromatin maintenance and remodeling
-
Newman JC, Bailey AD, Weiner AM. 2006. Cockayne syndrome group B protein (CSB) plays a general role in chromatin maintenance and remodeling. Proc Natl Acad Sci USA 103:9613-9618.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 9613-9618
-
-
Newman, J.C.1
Bailey, A.D.2
Weiner, A.M.3
-
39
-
-
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, Mandel J. 1991. Instability of a 550-base pair DNA segment and abnormal methylation in Fragile X syndrome. Science 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.8
Mandel, J.9
-
40
-
-
34547692622
-
Trinucleotide repeat disorders
-
Orr HT, Zoghbi HY. 2007. Trinucleotide repeat disorders. Annu Rev Neurosci 30:575-621.
-
(2007)
Annu Rev Neurosci
, vol.30
, pp. 575-621
-
-
Orr, H.T.1
Zoghbi, H.Y.2
-
42
-
-
0025833298
-
Absence of expression of the FMR-1 gene in Fragile X syndrome
-
Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson DL. 1991. Absence of expression of the FMR-1 gene in Fragile X syndrome. Cell 66:817-822.
-
(1991)
Cell
, vol.66
, pp. 817-822
-
-
Pieretti, M.1
Zhang, F.P.2
Fu, Y.H.3
Warren, S.T.4
Oostra, B.A.5
Caskey, C.T.6
Nelson, D.L.7
-
43
-
-
80053215162
-
DNA slip-outs cause RNA polymerase II arrest in vitro: potential implications for genetic instability
-
Salinas-Rios V, Belotserkovskii BP, Hanawalt PC. 2011. DNA slip-outs cause RNA polymerase II arrest in vitro: potential implications for genetic instability. Nucleic Acids Res 39:7444-7454.
-
(2011)
Nucleic Acids Res
, vol.39
, pp. 7444-7454
-
-
Salinas-Rios, V.1
Belotserkovskii, B.P.2
Hanawalt, P.C.3
-
45
-
-
0030822591
-
Cockayne syndrome group B protein enhances elongation by RNA polymerase II
-
Selby CP, Sancar A. 1997. Cockayne syndrome group B protein enhances elongation by RNA polymerase II. Proc Natl Acad Sci USA 94:11205-11209.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 11205-11209
-
-
Selby, C.P.1
Sancar, A.2
-
46
-
-
0034522229
-
Premature ovarian failure in the Fragile X syndrome
-
Sherman SL. 2000. Premature ovarian failure in the Fragile X syndrome. Am J Med Genet 97:189-194.
-
(2000)
Am J Med Genet
, vol.97
, pp. 189-194
-
-
Sherman, S.L.1
-
47
-
-
33846199099
-
Molecular testing for Fragile X syndrome: lessons learned from 119,232 tests performed in a clinical laboratory
-
Strom CM, Crossley B, Redman JB, Buller A, Quan F, Peng M, McGinnis M, Fenwick RG Jr., Sun W. 2007. Molecular testing for Fragile X syndrome: lessons learned from 119, 232 tests performed in a clinical laboratory. Genet Med 9:46-51.
-
(2007)
Genet Med
, vol.9
, pp. 46-51
-
-
Strom, C.M.1
Crossley, B.2
Redman, J.B.3
Buller, A.4
Quan, F.5
Peng, M.6
McGinnis, M.7
Fenwick Jr., R.G.8
Sun, W.9
-
48
-
-
0033940157
-
Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the Fragile-X syndrome
-
Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ. 2000. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the Fragile-X syndrome. Am J Hum Genet 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
-
49
-
-
0033612337
-
Tissue heterogeneity of the FMR1 mutation in a high-functioning male with Fragile X syndrome
-
Taylor AK, Tassone F, Dyer PN, Hersch SM, Harris JB, Greenough WT, Hagerman RJ. 1999. Tissue heterogeneity of the FMR1 mutation in a high-functioning male with Fragile X syndrome. Am J Med Genet 84:233-239.
-
(1999)
Am J Med Genet
, vol.84
, pp. 233-239
-
-
Taylor, A.K.1
Tassone, F.2
Dyer, P.N.3
Hersch, S.M.4
Harris, J.B.5
Greenough, W.T.6
Hagerman, R.J.7
-
50
-
-
84874787154
-
MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice
-
Tome S, Manley K, Simard JP, Clark GW, Slean MM, Swami M, Shelbourne PF, Tillier ER, Monckton DG, Messer A, Pearson CE. 2013. MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice. PLoS Genet 9:e1003280.
-
(2013)
PLoS Genet
, vol.9
-
-
Tome, S.1
Manley, K.2
Simard, J.P.3
Clark, G.W.4
Slean, M.M.5
Swami, M.6
Shelbourne, P.F.7
Tillier, E.R.8
Monckton, D.G.9
Messer, A.10
Pearson, C.E.11
-
51
-
-
46449113997
-
The biological effects of simple tandem repeats: lessons from the repeat expansion diseases
-
Usdin K. 2008. The biological effects of simple tandem repeats: lessons from the repeat expansion diseases. Genome Res 18:1011-1019.
-
(2008)
Genome Res
, vol.18
, pp. 1011-1019
-
-
Usdin, K.1
-
52
-
-
0030916337
-
Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition
-
van der Horst GT, van Steeg H, Berg RJ, van Gool AJ, de Wit J, Weeda G, Morreau H, Beems RB, van Kreijl CF, de Gruijl FR, Bootsma D, Hoeijmakers JH. 1997. Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. Cell 89:425-435.
-
(1997)
Cell
, vol.89
, pp. 425-435
-
-
van der Horst, G.T.1
van Steeg, H.2
Berg, R.J.3
van Gool, A.J.4
de Wit, J.5
Weeda, G.6
Morreau, H.7
Beems, R.B.8
van Kreijl, C.F.9
de Gruijl, F.R.10
Bootsma, D.11
Hoeijmakers, J.H.12
-
53
-
-
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 AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP, Eussen BE, van Ommen GJB, et al. 1991. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 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
Eussen, B.E.11
van Ommen, G.J.B.12
-
54
-
-
0032938295
-
Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse
-
Wheeler VC, Auerbach W, White JK, Srinidhi J, Auerbach A, Ryan A, Duyao MP, Vrbanac V, Weaver M, Gusella JF, Joyner AL, MacDonald ME. 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
Joyner, A.L.11
MacDonald, M.E.12
-
56
-
-
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. 1998. Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats. J Med Genet 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
-
57
-
-
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. 2001. Demethylation, reactivation, and destabilization of human fragile X full-mutation alleles in mouse embryocarcinoma cells. Am J Hum Genet 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
-
58
-
-
0030576353
-
DNA methylation and triplet repeat stability: new proposals addressing actual questions on the CGG repeat of fragile X syndrome
-
Wohrle D, Schwemmle S, Steinbach P. 1996. DNA methylation and triplet repeat stability: new proposals addressing actual questions on the CGG repeat of fragile X syndrome. Am J Med Genet 64:266-267.
-
(1996)
Am J Med Genet
, vol.64
, pp. 266-267
-
-
Wohrle, D.1
Schwemmle, S.2
Steinbach, P.3
|