-
1
-
-
77954436746
-
Cockayne syndrome group B protein promotes mitochondrial DNA stability by supporting the DNA repair association with the mitochondrial membrane
-
Aamann M.D., Sorensen M.M., Hvitby C., Berquist B.R., Muftuoglu M., Tian J., de Souza-Pinto N.C., Scheibye-Knudsen M., Wilson D.M., Stevnsner T., Bohr V.A. Cockayne syndrome group B protein promotes mitochondrial DNA stability by supporting the DNA repair association with the mitochondrial membrane. FASEB Journal 2010, 24:2334-2346.
-
(2010)
FASEB Journal
, vol.24
, pp. 2334-2346
-
-
Aamann, M.D.1
Sorensen, M.M.2
Hvitby, C.3
Berquist, B.R.4
Muftuoglu, M.5
Tian, J.6
de Souza-Pinto, N.C.7
Scheibye-Knudsen, M.8
Wilson, D.M.9
Stevnsner, T.10
Bohr, V.A.11
-
2
-
-
33750247815
-
Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles
-
Andressoo J.O., Jans J., de Wit J., Coin F., Hoogstraten D., van de Ven M., Toussaint W., Huijmans J., Thio H.B., van Leeuwen W.J., de Boer J., Egly J.M., Hoeijmakers J.H., van der Horst G.T., Mitchell J.R. Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles. PLoS Biology 2006, 4:e322.
-
(2006)
PLoS Biology
, vol.4
-
-
Andressoo, J.O.1
Jans, J.2
de Wit, J.3
Coin, F.4
Hoogstraten, D.5
van de Ven, M.6
Toussaint, W.7
Huijmans, J.8
Thio, H.B.9
van Leeuwen, W.J.10
de Boer, J.11
Egly, J.M.12
Hoeijmakers, J.H.13
van der Horst, G.T.14
Mitchell, J.R.15
-
3
-
-
33746973285
-
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria
-
Andressoo J.O., Mitchell J.R., de Wit J., Hoogstraten D., Volker M., Toussaint W., Speksnijder E., Beems R.B., van Steeg H., Jans J., de Zeeuw C.I., Jaspers N.G., Raams A., Lehmann A.R., Vermeulen W., Hoeijmakers J.H., van der Horst G.T. An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria. Cancer Cell 2006, 10:121-132.
-
(2006)
Cancer Cell
, vol.10
, pp. 121-132
-
-
Andressoo, J.O.1
Mitchell, J.R.2
de Wit, J.3
Hoogstraten, D.4
Volker, M.5
Toussaint, W.6
Speksnijder, E.7
Beems, R.B.8
van Steeg, H.9
Jans, J.10
de Zeeuw, C.I.11
Jaspers, N.G.12
Raams, A.13
Lehmann, A.R.14
Vermeulen, W.15
Hoeijmakers, J.H.16
van der Horst, G.T.17
-
4
-
-
61749093727
-
An Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repair
-
Andressoo J.O., Weeda G., de Wit J., Mitchell J.R., Beems R.B., van Steeg H., van der Horst G.T., Hoeijmakers J.H. An Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repair. Molecular and Cellular Biology 2009, 29:1276-1290.
-
(2009)
Molecular and Cellular Biology
, vol.29
, pp. 1276-1290
-
-
Andressoo, J.O.1
Weeda, G.2
de Wit, J.3
Mitchell, J.R.4
Beems, R.B.5
van Steeg, H.6
van der Horst, G.T.7
Hoeijmakers, J.H.8
-
5
-
-
77953091336
-
A ubiquitin-binding domain in Cockayne syndrome B required for transcription-coupled nucleotide excision repair
-
Anindya R., Mari P.O., Kristensen U., Kool H., Giglia-Mari G., Mullenders L.H., Fousteri M., Vermeulen W., Egly J.M., Svejstrup J.Q. A ubiquitin-binding domain in Cockayne syndrome B required for transcription-coupled nucleotide excision repair. Molecular Cell 2010, 38:637-648.
-
(2010)
Molecular Cell
, vol.38
, pp. 637-648
-
-
Anindya, R.1
Mari, P.O.2
Kristensen, U.3
Kool, H.4
Giglia-Mari, G.5
Mullenders, L.H.6
Fousteri, M.7
Vermeulen, W.8
Egly, J.M.9
Svejstrup, J.Q.10
-
6
-
-
49449096533
-
Neurological symptoms and natural course of xeroderma pigmentosum
-
Anttinen A., Koulu L., Nikoskelainen E., Portin R., Kurki T., Erkinjuntti M., Jaspers N.G., Raams A., Green M.H., Lehmann A.R., Wing J.F., Arlett C.F., Marttila R.J. Neurological symptoms and natural course of xeroderma pigmentosum. Brain 2008, 131:1979-1989.
-
(2008)
Brain
, vol.131
, pp. 1979-1989
-
-
Anttinen, A.1
Koulu, L.2
Nikoskelainen, E.3
Portin, R.4
Kurki, T.5
Erkinjuntti, M.6
Jaspers, N.G.7
Raams, A.8
Green, M.H.9
Lehmann, A.R.10
Wing, J.F.11
Arlett, C.F.12
Marttila, R.J.13
-
7
-
-
38449094426
-
Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts
-
Arlett C.F., Green M.H., Rogers P.B., Lehmann A.R., Plowman P.N. Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts. British Journal of Radiology 2008, 81:51-58.
-
(2008)
British Journal of Radiology
, vol.81
, pp. 51-58
-
-
Arlett, C.F.1
Green, M.H.2
Rogers, P.B.3
Lehmann, A.R.4
Plowman, P.N.5
-
8
-
-
84860235841
-
The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cells
-
Bailey A.D., Gray L.T., Pavelitz T., Newman J.C., Horibata K., Tanaka K., Weiner A.M. The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cells. DNA Repair (Amst) 2012, 11:488-501.
-
(2012)
DNA Repair (Amst)
, vol.11
, pp. 488-501
-
-
Bailey, A.D.1
Gray, L.T.2
Pavelitz, T.3
Newman, J.C.4
Horibata, K.5
Tanaka, K.6
Weiner, A.M.7
-
9
-
-
0034213597
-
Impact of global genome repair versus transcription-coupled repair on ultraviolet carcinogenesis in hairless mice
-
Berg R.J., Rebel H., van der Horst G.T., van Kranen H.J., Mullenders L.H., van Vloten W.A., de Gruijl F.R. Impact of global genome repair versus transcription-coupled repair on ultraviolet carcinogenesis in hairless mice. Cancer Research 2000, 60:2858-2863.
-
(2000)
Cancer Research
, 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
-
10
-
-
79961125162
-
Nasu-Hakola disease and primary microglial dysfunction
-
Bianchin M.M., Martin K.C., de Souza A.C., de Oliveira M.A., Rieder C.R. Nasu-Hakola disease and primary microglial dysfunction. Nature Reviews - Neuroscience 2010, 6:523.
-
(2010)
Nature Reviews - Neuroscience
, vol.6
, pp. 523
-
-
Bianchin, M.M.1
Martin, K.C.2
de Souza, A.C.3
de Oliveira, M.A.4
Rieder, C.R.5
-
11
-
-
80052359532
-
Accelerated age-related cognitive decline and neurodegeneration, caused by deficient DNA repair
-
Borgesius N.Z., de Waard M.C., van der Pluijm I., Omrani A., Zondag G.C., van der Horst G.T., Melton D.W., Hoeijmakers J.H., Jaarsma D., Elgersma Y. Accelerated age-related cognitive decline and neurodegeneration, caused by deficient DNA repair. Journal of Neuroscience 2011, 31:12543-12553.
-
(2011)
Journal of Neuroscience
, vol.31
, pp. 12543-12553
-
-
Borgesius, N.Z.1
de Waard, M.C.2
van der Pluijm, I.3
Omrani, A.4
Zondag, G.C.5
van der Horst, G.T.6
Melton, D.W.7
Hoeijmakers, J.H.8
Jaarsma, D.9
Elgersma, Y.10
-
12
-
-
79951785364
-
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair
-
Bradford P.T., Goldstein A.M., Tamura D., Khan S.G., Ueda T., Boyle J., Oh K.S., Imoto K., Inui H., Moriwaki S., Emmert S., Pike K.M., Raziuddin A., Plona T.M., DiGiovanna J.J., Tucker M.A., Kraemer K.H. Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair. Journal of Medical Genetics 2011, 48:168-176.
-
(2011)
Journal of Medical Genetics
, vol.48
, pp. 168-176
-
-
Bradford, P.T.1
Goldstein, A.M.2
Tamura, D.3
Khan, S.G.4
Ueda, T.5
Boyle, J.6
Oh, K.S.7
Imoto, K.8
Inui, H.9
Moriwaki, S.10
Emmert, S.11
Pike, K.M.12
Raziuddin, A.13
Plona, T.M.14
DiGiovanna, J.J.15
Tucker, M.A.16
Kraemer, K.H.17
-
13
-
-
44949263779
-
The 8,5'-cyclopurine-2'-deoxynucleosides: candidate neurodegenerative DNA lesions in xeroderma pigmentosum, and unique probes of transcription and nucleotide excision repair
-
Brooks P.J. The 8,5'-cyclopurine-2'-deoxynucleosides: candidate neurodegenerative DNA lesions in xeroderma pigmentosum, and unique probes of transcription and nucleotide excision repair. DNA Repair (Amst) 2008, 7:1168-1179.
-
(2008)
DNA Repair (Amst)
, vol.7
, pp. 1168-1179
-
-
Brooks, P.J.1
-
14
-
-
43849107357
-
Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage?
-
Brooks P.J., Cheng T.F., Cooper L. Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage?. DNA Repair (Amst) 2008, 7:834-848.
-
(2008)
DNA Repair (Amst)
, vol.7
, pp. 834-848
-
-
Brooks, P.J.1
Cheng, T.F.2
Cooper, L.3
-
15
-
-
33751559420
-
RNA polymerase II bypass of oxidative DNA damage is regulated by transcription elongation factors
-
Charlet-Berguerand N., Feuerhahn S., Kong S.E., Ziserman H., Conaway J.W., Conaway R., Egly J.M. RNA polymerase II bypass of oxidative DNA damage is regulated by transcription elongation factors. EMBO Journal 2006, 25:5481-5491.
-
(2006)
EMBO Journal
, vol.25
, pp. 5481-5491
-
-
Charlet-Berguerand, N.1
Feuerhahn, S.2
Kong, S.E.3
Ziserman, H.4
Conaway, J.W.5
Conaway, R.6
Egly, J.M.7
-
17
-
-
35549000640
-
Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH
-
Compe E., Malerba M., Soler L., Marescaux J., Borrelli E., Egly J.M. Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH. Nature Neuroscience 2007, 10:1414-1422.
-
(2007)
Nature Neuroscience
, vol.10
, pp. 1414-1422
-
-
Compe, E.1
Malerba, M.2
Soler, L.3
Marescaux, J.4
Borrelli, E.5
Egly, J.M.6
-
18
-
-
79953302614
-
Impaired repair of ionizing radiation-induced DNA damage in Cockayne syndrome cells
-
Cramers P., Verhoeven E.E., Filon A.R., Rockx D.A., Santos S.J., van der Leer A.A., Kleinjans J.C., van Zeeland A.A., Mullenders L.H. Impaired repair of ionizing radiation-induced DNA damage in Cockayne syndrome cells. Radiation Research 2011, 175:432-443.
-
(2011)
Radiation Research
, vol.175
, pp. 432-443
-
-
Cramers, P.1
Verhoeven, E.E.2
Filon, A.R.3
Rockx, D.A.4
Santos, S.J.5
van der Leer, A.A.6
Kleinjans, J.C.7
van Zeeland, A.A.8
Mullenders, L.H.9
-
19
-
-
34347352111
-
The role of CSA in the response to oxidative DNA damage in human cells
-
D'Errico M., Parlanti E., Teson M., Degan P., Lemma T., Calcagnile A., Iavarone I., Jaruga P., Ropolo M., Pedrini A.M., Orioli D., Frosina G., Zambruno G., Dizdaroglu M., Stefanini M., Dogliotti E. The role of CSA in the response to oxidative DNA damage in human cells. Oncogene 2007, 26:4336-4343.
-
(2007)
Oncogene
, vol.26
, pp. 4336-4343
-
-
D'Errico, M.1
Parlanti, E.2
Teson, M.3
Degan, P.4
Lemma, T.5
Calcagnile, A.6
Iavarone, I.7
Jaruga, P.8
Ropolo, M.9
Pedrini, A.M.10
Orioli, D.11
Frosina, G.12
Zambruno, G.13
Dizdaroglu, M.14
Stefanini, M.15
Dogliotti, E.16
-
20
-
-
0037123638
-
Premature aging in mice deficient in DNA repair and transcription
-
de Boer J., Andressoo J.O., de Wit J., Huijmans J., Beems R.B., van Steeg H., Weeda G., van der Horst G.T., van Leeuwen W., Themmen A.P., Meradji M., Hoeijmakers J.H. Premature aging in mice deficient in DNA repair and transcription. Science 2002, 296:1276-1279.
-
(2002)
Science
, vol.296
, pp. 1276-1279
-
-
de Boer, J.1
Andressoo, J.O.2
de Wit, J.3
Huijmans, J.4
Beems, R.B.5
van Steeg, H.6
Weeda, G.7
van der Horst, G.T.8
van Leeuwen, W.9
Themmen, A.P.10
Meradji, M.11
Hoeijmakers, J.H.12
-
21
-
-
0032085182
-
A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy
-
de Boer J., de Wit J., van Steeg H., Berg R.J., Morreau H., Visser P., Lehmann A.R., Duran M., Hoeijmakers J.H., Weeda G. A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy. Molecular Cell 1998, 1:981-990.
-
(1998)
Molecular Cell
, vol.1
, pp. 981-990
-
-
de Boer, J.1
de Wit, J.2
van Steeg, H.3
Berg, R.J.4
Morreau, H.5
Visser, P.6
Lehmann, A.R.7
Duran, M.8
Hoeijmakers, J.H.9
Weeda, G.10
-
22
-
-
0031964151
-
Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality
-
de Boer J., Donker I., de Wit J., Hoeijmakers J.H., Weeda G. Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality. Cancer Research 1998, 58:89-94.
-
(1998)
Cancer Research
, vol.58
, pp. 89-94
-
-
de Boer, J.1
Donker, I.2
de Wit, J.3
Hoeijmakers, J.H.4
Weeda, G.5
-
23
-
-
84876589511
-
Spatio-temporal analysis of molecular determinants of neuronal degeneration in the aging mouse cerebellum
-
(in press)
-
de Graaf E.L., Vermeij W.P., de Waard M.C., Rijksen Y., van der Pluijm I., Hoogenraad C.C., Hoeijmakers J.H., Altelaar A.F., Heck A.J. Spatio-temporal analysis of molecular determinants of neuronal degeneration in the aging mouse cerebellum. Molecular and Cellular Proteomics 2013, (in press). 10.1074/mcp.M112.024950.
-
(2013)
Molecular and Cellular Proteomics
-
-
de Graaf, E.L.1
Vermeij, W.P.2
de Waard, M.C.3
Rijksen, Y.4
van der Pluijm, I.5
Hoogenraad, C.C.6
Hoeijmakers, J.H.7
Altelaar, A.F.8
Heck, A.J.9
-
24
-
-
4444332513
-
Different effects of CSA and CSB deficiency on sensitivity to oxidative DNA damage
-
de Waard H., de Wit J., Andressoo J.O., van Oostrom C.T., Riis B., Weimann A., Poulsen H.E., van Steeg H., Hoeijmakers J.H., van der Horst G.T. Different effects of CSA and CSB deficiency on sensitivity to oxidative DNA damage. Molecular and Cellular Biology 2004, 24:7941-7948.
-
(2004)
Molecular and Cellular Biology
, vol.24
, pp. 7941-7948
-
-
de Waard, H.1
de Wit, J.2
Andressoo, J.O.3
van Oostrom, C.T.4
Riis, B.5
Weimann, A.6
Poulsen, H.E.7
van Steeg, H.8
Hoeijmakers, J.H.9
van der Horst, G.T.10
-
25
-
-
0037413368
-
Cell type-specific hypersensitivity to oxidative damage in CSB and XPA mice
-
de Waard H., de Wit J., Gorgels T.G., van den Aardweg G., Andressoo J.O., Vermeij M., van Steeg H., Hoeijmakers J.H., van der Horst G.T. Cell type-specific hypersensitivity to oxidative damage in CSB and XPA mice. DNA Repair (Amst) 2003, 2:13-25.
-
(2003)
DNA Repair (Amst)
, vol.2
, pp. 13-25
-
-
de Waard, H.1
de Wit, J.2
Gorgels, T.G.3
van den Aardweg, G.4
Andressoo, J.O.5
Vermeij, M.6
van Steeg, H.7
Hoeijmakers, J.H.8
van der Horst, G.T.9
-
26
-
-
52049121267
-
Cell-type-specific consequences of nucleotide excision repair deficiencies: embryonic stem cells versus fibroblasts
-
de Waard H., Sonneveld E., de Wit J., Esveldt-van Lange R., Hoeijmakers J.H., Vrieling H., van der Horst G.T. Cell-type-specific consequences of nucleotide excision repair deficiencies: embryonic stem cells versus fibroblasts. DNA Repair (Amst) 2008, 7:1659-1669.
-
(2008)
DNA Repair (Amst)
, vol.7
, pp. 1659-1669
-
-
de Waard, H.1
Sonneveld, E.2
de Wit, J.3
Esveldt-van Lange, R.4
Hoeijmakers, J.H.5
Vrieling, H.6
van der Horst, G.T.7
-
27
-
-
77956189163
-
Age-related motor neuron degeneration in DNA repair-deficient Ercc1 mice
-
de Waard M.C., van der Pluijm I., Zuiderveen Borgesius N., Comley L.H., Haasdijk E.D., Rijksen Y., Ridwan Y., Zondag G., Hoeijmakers J.H., Elgersma Y., Gillingwater T.H., Jaarsma D. Age-related motor neuron degeneration in DNA repair-deficient Ercc1 mice. Acta Neuropathologica 2010, 120:461-475.
-
(2010)
Acta Neuropathologica
, vol.120
, pp. 461-475
-
-
de Waard, M.C.1
van der Pluijm, I.2
Zuiderveen Borgesius, N.3
Comley, L.H.4
Haasdijk, E.D.5
Rijksen, Y.6
Ridwan, Y.7
Zondag, G.8
Hoeijmakers, J.H.9
Elgersma, Y.10
Gillingwater, T.H.11
Jaarsma, D.12
-
29
-
-
33645980992
-
Increased genomic instability is not a prerequisite for shortened lifespan in DNA repair deficient mice
-
Dolle M.E., Busuttil R.A., Garcia A.M., Wijnhoven S., van Drunen E., Niedernhofer L.J., van der Horst G., Hoeijmakers J.H., van Steeg H., Vijg J. Increased genomic instability is not a prerequisite for shortened lifespan in DNA repair deficient mice. Mutation Research 2006, 596:22-35.
-
(2006)
Mutation Research
, vol.596
, pp. 22-35
-
-
Dolle, M.E.1
Busuttil, R.A.2
Garcia, A.M.3
Wijnhoven, S.4
van Drunen, E.5
Niedernhofer, L.J.6
van der Horst, G.7
Hoeijmakers, J.H.8
van Steeg, H.9
Vijg, J.10
-
30
-
-
0030941612
-
Macrophage surface glycoproteins binding to galectin-3 (Mac-2-antigen)
-
Dong S., Hughes R.C. Macrophage surface glycoproteins binding to galectin-3 (Mac-2-antigen). Glycoconjugate Journal 1997, 14:267-274.
-
(1997)
Glycoconjugate Journal
, vol.14
, pp. 267-274
-
-
Dong, S.1
Hughes, R.C.2
-
31
-
-
34548455064
-
Repair capacity for platinum-DNA adducts determines the severity of cisplatin-induced peripheral neuropathy
-
Dzagnidze A., Katsarava Z., Makhalova J., Liedert B., Yoon M.S., Kaube H., Limmroth V., Thomale J. Repair capacity for platinum-DNA adducts determines the severity of cisplatin-induced peripheral neuropathy. Journal of Neuroscience 2007, 27:9451-9457.
-
(2007)
Journal of Neuroscience
, vol.27
, pp. 9451-9457
-
-
Dzagnidze, A.1
Katsarava, Z.2
Makhalova, J.3
Liedert, B.4
Yoon, M.S.5
Kaube, H.6
Limmroth, V.7
Thomale, J.8
-
32
-
-
0036280841
-
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients
-
Emmert S., Slor H., Busch D.B., Batko S., Albert R.B., Coleman D., Khan S.G., Abu-Libdeh B., DiGiovanna J.J., Cunningham B.B., Lee M.M., Crollick J., Inui H., Ueda T., Hedayati M., Grossman L., Shahlavi T., Cleaver J.E., Kraemer K.H. Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. Journal of Investigative Dermatology 2002, 118:972-982.
-
(2002)
Journal of Investigative Dermatology
, vol.118
, pp. 972-982
-
-
Emmert, S.1
Slor, H.2
Busch, D.B.3
Batko, S.4
Albert, R.B.5
Coleman, D.6
Khan, S.G.7
Abu-Libdeh, B.8
DiGiovanna, J.J.9
Cunningham, B.B.10
Lee, M.M.11
Crollick, J.12
Inui, H.13
Ueda, T.14
Hedayati, M.15
Grossman, L.16
Shahlavi, T.17
Cleaver, J.E.18
Kraemer, K.H.19
-
33
-
-
0030992293
-
Loss of the xeroderma pigmentosum group A gene (XPA) enhances apoptosis of cultured cerebellar neurons induced by UV but not by low-K+ medium
-
Enokido Y., Inamura N., Araki T., Satoh T., Nakane H., Yoshino M., Nakatsu Y., Tanaka K., Hatanaka H. Loss of the xeroderma pigmentosum group A gene (XPA) enhances apoptosis of cultured cerebellar neurons induced by UV but not by low-K+ medium. Journal of Neurochemistry 1997, 69:246-251.
-
(1997)
Journal of Neurochemistry
, vol.69
, pp. 246-251
-
-
Enokido, Y.1
Inamura, N.2
Araki, T.3
Satoh, T.4
Nakane, H.5
Yoshino, M.6
Nakatsu, Y.7
Tanaka, K.8
Hatanaka, H.9
-
34
-
-
79960343567
-
Regulation of endonuclease activity in human nucleotide excision repair
-
Fagbemi A.F., Orelli B., Scharer O.D. Regulation of endonuclease activity in human nucleotide excision repair. DNA Repair (Amst) 2011, 10:722-729.
-
(2011)
DNA Repair (Amst)
, vol.10
, pp. 722-729
-
-
Fagbemi, A.F.1
Orelli, B.2
Scharer, O.D.3
-
35
-
-
54049139573
-
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations
-
Faghri S., Tamura D., Kraemer K.H., Digiovanna J.J. Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. Journal of Medical Genetics 2008, 45:609-621.
-
(2008)
Journal of Medical Genetics
, vol.45
, pp. 609-621
-
-
Faghri, S.1
Tamura, D.2
Kraemer, K.H.3
Digiovanna, J.J.4
-
36
-
-
81855227619
-
The molecular basis of CRL4DDB2/CSA ubiquitin ligase architecture, targeting, and activation
-
Fischer E.S., Scrima A., Bohm K., Matsumoto S., Lingaraju G.M., Faty M., Yasuda T., Cavadini S., Wakasugi M., Hanaoka F., Iwai S., Gut H., Sugasawa K., Thoma N.H. The molecular basis of CRL4DDB2/CSA ubiquitin ligase architecture, targeting, and activation. Cell 2011, 147:1024-1039.
-
(2011)
Cell
, vol.147
, pp. 1024-1039
-
-
Fischer, E.S.1
Scrima, A.2
Bohm, K.3
Matsumoto, S.4
Lingaraju, G.M.5
Faty, M.6
Yasuda, T.7
Cavadini, S.8
Wakasugi, M.9
Hanaoka, F.10
Iwai, S.11
Gut, H.12
Sugasawa, K.13
Thoma, N.H.14
-
37
-
-
38049178545
-
Transcription-coupled nucleotide excision repair in mammalian cells: molecular mechanisms and biological effects
-
Fousteri M., Mullenders L.H. Transcription-coupled nucleotide excision repair in mammalian cells: molecular mechanisms and biological effects. Cell Research 2008, 18:73-84.
-
(2008)
Cell Research
, vol.18
, pp. 73-84
-
-
Fousteri, M.1
Mullenders, L.H.2
-
38
-
-
33747194740
-
Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo
-
Fousteri M., Vermeulen W., van Zeeland A.A., Mullenders L.H. Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo. Molecular Cell 2006, 23:471-482.
-
(2006)
Molecular Cell
, vol.23
, pp. 471-482
-
-
Fousteri, M.1
Vermeulen, W.2
van Zeeland, A.A.3
Mullenders, L.H.4
-
39
-
-
33746488809
-
DNA repair: from molecular mechanism to human disease
-
Friedberg E.C., Aguilera A., Gellert M., Hanawalt P.C., Hays J.B., Lehmann A.R., Lindahl T., Lowndes N., Sarasin A., Wood R.D. DNA repair: from molecular mechanism to human disease. DNA Repair (Amst) 2006, 5:986-996.
-
(2006)
DNA Repair (Amst)
, vol.5
, pp. 986-996
-
-
Friedberg, E.C.1
Aguilera, A.2
Gellert, M.3
Hanawalt, P.C.4
Hays, J.B.5
Lehmann, A.R.6
Lindahl, T.7
Lowndes, N.8
Sarasin, A.9
Wood, R.D.10
-
40
-
-
30344455023
-
Database of mouse strains carrying targeted mutations in genes affecting biological responses to DNA damage Version 7
-
Friedberg E.C., Meira L.B. Database of mouse strains carrying targeted mutations in genes affecting biological responses to DNA damage Version 7. DNA Repair (Amst) 2006, 5:189-209.
-
(2006)
DNA Repair (Amst)
, vol.5
, pp. 189-209
-
-
Friedberg, E.C.1
Meira, L.B.2
-
41
-
-
79960377998
-
XPB and XPD helicases in TFIIH orchestrate DNA duplex opening and damage verification to coordinate repair with transcription and cell cycle via CAK kinase
-
Fuss J.O., Tainer J.A. XPB and XPD helicases in TFIIH orchestrate DNA duplex opening and damage verification to coordinate repair with transcription and cell cycle via CAK kinase. DNA Repair (Amst) 2011, 10:697-713.
-
(2011)
DNA Repair (Amst)
, vol.10
, pp. 697-713
-
-
Fuss, J.O.1
Tainer, J.A.2
-
42
-
-
67349287384
-
Persistent transcription-blocking DNA lesions trigger somatic growth attenuation associated with longevity
-
Garinis G.A., Uittenboogaard L.M., Stachelscheid H., Fousteri M., van Ijcken W., Breit T.M., van Steeg H., Mullenders L.H., van der Horst G.T., Bruning J.C., Niessen C.M., Hoeijmakers J.H., Schumacher B. Persistent transcription-blocking DNA lesions trigger somatic growth attenuation associated with longevity. Nature Cell Biology 2009, 11:604-615.
-
(2009)
Nature Cell Biology
, vol.11
, pp. 604-615
-
-
Garinis, G.A.1
Uittenboogaard, L.M.2
Stachelscheid, H.3
Fousteri, M.4
van Ijcken, W.5
Breit, T.M.6
van Steeg, H.7
Mullenders, L.H.8
van der Horst, G.T.9
Bruning, J.C.10
Niessen, C.M.11
Hoeijmakers, J.H.12
Schumacher, B.13
-
43
-
-
70350518308
-
Differentiation driven changes in the dynamic organization of Basal transcription initiation
-
Giglia-Mari G., Theil A.F., Mari P.O., Mourgues S., Nonnekens J., Andrieux L.O., de Wit J., Miquel C., Wijgers N., Maas A., Fousteri M., Hoeijmakers J.H., Vermeulen W. Differentiation driven changes in the dynamic organization of Basal transcription initiation. PLoS Biology 2009, 7:e1000220.
-
(2009)
PLoS Biology
, vol.7
-
-
Giglia-Mari, G.1
Theil, A.F.2
Mari, P.O.3
Mourgues, S.4
Nonnekens, J.5
Andrieux, L.O.6
de Wit, J.7
Miquel, C.8
Wijgers, N.9
Maas, A.10
Fousteri, M.11
Hoeijmakers, J.H.12
Vermeulen, W.13
-
44
-
-
84866142231
-
Generation of DNA single-strand displacement by compromised nucleotide excision repair
-
Godon C., Mourgues S., Nonnekens J., Mourcet A., Coin F., Vermeulen W., Mari P.O., Giglia-Mari G. Generation of DNA single-strand displacement by compromised nucleotide excision repair. EMBO Journal 2012, 31:3550-3563.
-
(2012)
EMBO Journal
, vol.31
, pp. 3550-3563
-
-
Godon, C.1
Mourgues, S.2
Nonnekens, J.3
Mourcet, A.4
Coin, F.5
Vermeulen, W.6
Mari, P.O.7
Giglia-Mari, G.8
-
45
-
-
33846923284
-
Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome
-
Gorgels T.G., van der Pluijm I., Brandt R.M., Garinis G.A., van Steeg H., van den Aardweg G., Jansen G.H., Ruijter J.M., Bergen A.A., van Norren D., Hoeijmakers J.H., van der Horst G.T. Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome. Molecular and Cellular Biology 2007, 27:1433-1441.
-
(2007)
Molecular and Cellular Biology
, vol.27
, pp. 1433-1441
-
-
Gorgels, T.G.1
van der Pluijm, I.2
Brandt, R.M.3
Garinis, G.A.4
van Steeg, H.5
van den Aardweg, G.6
Jansen, G.H.7
Ruijter, J.M.8
Bergen, A.A.9
van Norren, D.10
Hoeijmakers, J.H.11
van der Horst, G.T.12
-
46
-
-
84866923507
-
Tethering of the Conserved piggyBac Transposase Fusion Protein CSB-PGBD3 to Chromosomal AP-1 Proteins Regulates Expression of Nearby Genes in Humans
-
Gray L.T., Fong K.K., Pavelitz T., Weiner A.M. Tethering of the Conserved piggyBac Transposase Fusion Protein CSB-PGBD3 to Chromosomal AP-1 Proteins Regulates Expression of Nearby Genes in Humans. PLoS Genetics 2012, 8:e1002972.
-
(2012)
PLoS Genetics
, vol.8
-
-
Gray, L.T.1
Fong, K.K.2
Pavelitz, T.3
Weiner, A.M.4
-
47
-
-
79960394750
-
Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease
-
Gregg S.Q., Robinson A.R., Niedernhofer L.J. Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease. DNA Repair (Amst) 2011, 10:781-791.
-
(2011)
DNA Repair (Amst)
, vol.10
, pp. 781-791
-
-
Gregg, S.Q.1
Robinson, A.R.2
Niedernhofer, L.J.3
-
48
-
-
33744795969
-
CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome
-
Groisman R., Kuraoka I., Chevallier O., Gaye N., Magnaldo T., Tanaka K., Kisselev A.F., Harel-Bellan A., Nakatani Y. CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome. Genes and Development 2006, 20:1429-1434.
-
(2006)
Genes and Development
, vol.20
, pp. 1429-1434
-
-
Groisman, R.1
Kuraoka, I.2
Chevallier, O.3
Gaye, N.4
Magnaldo, T.5
Tanaka, K.6
Kisselev, A.F.7
Harel-Bellan, A.8
Nakatani, Y.9
-
50
-
-
56749157389
-
Transcription-coupled DNA repair: two decades of progress and surprises
-
Hanawalt P.C., Spivak G. Transcription-coupled DNA repair: two decades of progress and surprises. Nature Reviews Molecular Cell Biology 2008, 9:958-970.
-
(2008)
Nature Reviews Molecular Cell Biology
, vol.9
, pp. 958-970
-
-
Hanawalt, P.C.1
Spivak, G.2
-
51
-
-
0032980573
-
Postnatal growth failure, short life span, and early onset of cellular senescence and subsequent immortalization in mice lacking the xeroderma pigmentosum group G gene
-
Harada Y.N., Shiomi N., Koike M., Ikawa M., Okabe M., Hirota S., Kitamura Y., Kitagawa M., Matsunaga T., Nikaido O., Shiomi T. Postnatal growth failure, short life span, and early onset of cellular senescence and subsequent immortalization in mice lacking the xeroderma pigmentosum group G gene. Molecular and Cellular Biology 1999, 19:2366-2372.
-
(1999)
Molecular and Cellular Biology
, vol.19
, pp. 2366-2372
-
-
Harada, Y.N.1
Shiomi, N.2
Koike, M.3
Ikawa, M.4
Okabe, M.5
Hirota, S.6
Kitamura, Y.7
Kitagawa, M.8
Matsunaga, T.9
Nikaido, O.10
Shiomi, T.11
-
52
-
-
43749100472
-
Adult-onset neurological degeneration in a patient with Cockayne syndrome and a null mutation in the CSB gene
-
Hashimoto S., Suga T., Kudo E., Ihn H., Uchino M., Tateishi S. Adult-onset neurological degeneration in a patient with Cockayne syndrome and a null mutation in the CSB gene. Journal of Investigative Dermatology 2008, 128:1597-1599.
-
(2008)
Journal of Investigative Dermatology
, vol.128
, pp. 1597-1599
-
-
Hashimoto, S.1
Suga, T.2
Kudo, E.3
Ihn, H.4
Uchino, M.5
Tateishi, S.6
-
54
-
-
7944234072
-
2-AAF-induced tumor development in nucleotide excision repair-deficient mice is associated with a defect in global genome repair but not with transcription coupled repair
-
Hoogervorst E.M., van Oostrom C.T., Beems R.B., van Benthem J., van den Berg J., van Kreijl C.F., Vos J.G., de Vries A., van Steeg H. 2-AAF-induced tumor development in nucleotide excision repair-deficient mice is associated with a defect in global genome repair but not with transcription coupled repair. DNA Repair (Amst) 2005, 4:3-9.
-
(2005)
DNA Repair (Amst)
, vol.4
, pp. 3-9
-
-
Hoogervorst, E.M.1
van Oostrom, C.T.2
Beems, R.B.3
van Benthem, J.4
van den Berg, J.5
van Kreijl, C.F.6
Vos, J.G.7
de Vries, A.8
van Steeg, H.9
-
55
-
-
53349128176
-
Versatile DNA damage detection by the global genome nucleotide excision repair protein XPC
-
Hoogstraten D., Bergink S., Ng J.M., Verbiest V.H., Luijsterburg M.S., Geverts B., Raams A., Dinant C., Hoeijmakers J.H., Vermeulen W., Houtsmuller A.B. Versatile DNA damage detection by the global genome nucleotide excision repair protein XPC. Journal of Cell Science 2008, 121:2850-2859.
-
(2008)
Journal of Cell Science
, vol.121
, pp. 2850-2859
-
-
Hoogstraten, D.1
Bergink, S.2
Ng, J.M.3
Verbiest, V.H.4
Luijsterburg, M.S.5
Geverts, B.6
Raams, A.7
Dinant, C.8
Hoeijmakers, J.H.9
Vermeulen, W.10
Houtsmuller, A.B.11
-
56
-
-
7444226812
-
Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome
-
Horibata K., Iwamoto Y., Kuraoka I., Jaspers N.G., Kurimasa A., Oshimura M., Ichihashi M., Tanaka K. Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. Proceedings of the National Academy of Sciences of the United States of America 2004, 101:15410-15415.
-
(2004)
Proceedings of the National Academy of Sciences of the United States of America
, vol.101
, pp. 15410-15415
-
-
Horibata, K.1
Iwamoto, Y.2
Kuraoka, I.3
Jaspers, N.G.4
Kurimasa, A.5
Oshimura, M.6
Ichihashi, M.7
Tanaka, K.8
-
57
-
-
78650640724
-
Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex
-
Horibata K., Saijo M., Bay M.N., Lan L., Kuraoka I., Brooks P.J., Honma M., Nohmi T., Yasui A., Tanaka K. Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex. Genes to Cells 2011, 16:101-114.
-
(2011)
Genes to Cells
, vol.16
, pp. 101-114
-
-
Horibata, K.1
Saijo, M.2
Bay, M.N.3
Lan, L.4
Kuraoka, I.5
Brooks, P.J.6
Honma, M.7
Nohmi, T.8
Yasui, A.9
Tanaka, K.10
-
58
-
-
79961022340
-
Spinal inhibitory interneuron pathology follows motor neuron degeneration independent of glial mutant superoxide dismutase 1 expression in SOD1-ALS mice
-
Hossaini M., Cano S.C., van Dis V., Haasdijk E.D., Hoogenraad C.C., Holstege J.C., Jaarsma D. Spinal inhibitory interneuron pathology follows motor neuron degeneration independent of glial mutant superoxide dismutase 1 expression in SOD1-ALS mice. Journal of Neuropathology and Experimental Neurology 2011, 70:662-677.
-
(2011)
Journal of Neuropathology and Experimental Neurology
, vol.70
, pp. 662-677
-
-
Hossaini, M.1
Cano, S.C.2
van Dis, V.3
Haasdijk, E.D.4
Hoogenraad, C.C.5
Holstege, J.C.6
Jaarsma, D.7
-
59
-
-
34247256517
-
XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients
-
Ito S., Kuraoka I., Chymkowitch P., Compe E., Takedachi A., Ishigami C., Coin F., Egly J.M., Tanaka K. XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients. Molecular Cell 2007, 26:231-243.
-
(2007)
Molecular Cell
, vol.26
, pp. 231-243
-
-
Ito, S.1
Kuraoka, I.2
Chymkowitch, P.3
Compe, E.4
Takedachi, A.5
Ishigami, C.6
Coin, F.7
Egly, J.M.8
Tanaka, K.9
-
60
-
-
78149236114
-
ERCC6 founder mutation identified in Finnish patients with COFS syndrome
-
Jaakkola E., Mustonen A., Olsen P., Miettinen S., Savuoja T., Raams A., Jaspers N.G., Shao H., Wu B.L., Ignatius J. ERCC6 founder mutation identified in Finnish patients with COFS syndrome. Clinical Genetics 2010, 78:541-547.
-
(2010)
Clinical Genetics
, vol.78
, pp. 541-547
-
-
Jaakkola, E.1
Mustonen, A.2
Olsen, P.3
Miettinen, S.4
Savuoja, T.5
Raams, A.6
Jaspers, N.G.7
Shao, H.8
Wu, B.L.9
Ignatius, J.10
-
61
-
-
39849103473
-
Neuron-specific expression of mutant superoxide dismutase is sufficient to induce amyotrophic lateral sclerosis in transgenic mice
-
Jaarsma D., Teuling E., Haasdijk E.D., De Zeeuw C.I., Hoogenraad C.C. Neuron-specific expression of mutant superoxide dismutase is sufficient to induce amyotrophic lateral sclerosis in transgenic mice. Journal of Neuroscience 2008, 28:2075-2088.
-
(2008)
Journal of Neuroscience
, vol.28
, pp. 2075-2088
-
-
Jaarsma, D.1
Teuling, E.2
Haasdijk, E.D.3
De Zeeuw, C.I.4
Hoogenraad, C.C.5
-
62
-
-
84855288980
-
Age-related neuronal degeneration: complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology
-
Jaarsma D., van der Pluijm I., de Waard M.C., Haasdijk E.D., Brandt R., Vermeij M., Rijksen Y., Maas A., van Steeg H., Hoeijmakers J.H., van der Horst G.T. Age-related neuronal degeneration: complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology. PLoS Genetics 2011, 7:e1002405.
-
(2011)
PLoS Genetics
, vol.7
-
-
Jaarsma, D.1
van der Pluijm, I.2
de Waard, M.C.3
Haasdijk, E.D.4
Brandt, R.5
Vermeij, M.6
Rijksen, Y.7
Maas, A.8
van Steeg, H.9
Hoeijmakers, J.H.10
van der Horst, G.T.11
-
63
-
-
33847056347
-
First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure
-
Jaspers N.G., Raams A., Silengo M.C., Wijgers N., Niedernhofer L.J., Robinson A.R., Giglia-Mari G., Hoogstraten D., Kleijer W.J., Hoeijmakers J.H., Vermeulen W. First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. American Journal of Human Genetics 2007, 80:457-466.
-
(2007)
American Journal of Human Genetics
, vol.80
, pp. 457-466
-
-
Jaspers, N.G.1
Raams, A.2
Silengo, M.C.3
Wijgers, N.4
Niedernhofer, L.J.5
Robinson, A.R.6
Giglia-Mari, G.7
Hoogstraten, D.8
Kleijer, W.J.9
Hoeijmakers, J.H.10
Vermeulen, W.11
-
64
-
-
77149172083
-
Proteins of nucleotide and base excision repair pathways interact in mitochondria to protect from loss of subcutaneous fat, a hallmark of aging
-
Kamenisch Y., Fousteri M., Knoch J., von Thaler A.K., Fehrenbacher B., Kato H., Becker T., Dolle M.E., Kuiper R., Majora M., Schaller M., van der Horst G.T., van Steeg H., Rocken M., Rapaport D., Krutmann J., Mullenders L.H., Berneburg M. Proteins of nucleotide and base excision repair pathways interact in mitochondria to protect from loss of subcutaneous fat, a hallmark of aging. Journal of Experimental Medicine 2010, 207:379-390.
-
(2010)
Journal of Experimental Medicine
, vol.207
, pp. 379-390
-
-
Kamenisch, Y.1
Fousteri, M.2
Knoch, J.3
von Thaler, A.K.4
Fehrenbacher, B.5
Kato, H.6
Becker, T.7
Dolle, M.E.8
Kuiper, R.9
Majora, M.10
Schaller, M.11
van der Horst, G.T.12
van Steeg, H.13
Rocken, M.14
Rapaport, D.15
Krutmann, J.16
Mullenders, L.H.17
Berneburg, M.18
-
65
-
-
56549114201
-
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms
-
Khan S.G., Oh K.S., Emmert S., Imoto K., Tamura D., Digiovanna J.J., Shahlavi T., Armstrong N., Baker C.C., Neuburg M., Zalewski C., Brewer C., Wiggs E., Schiffmann R., Kraemer K.H. XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms. DNA Repair (Amst) 2009, 8:114-125.
-
(2009)
DNA Repair (Amst)
, vol.8
, pp. 114-125
-
-
Khan, S.G.1
Oh, K.S.2
Emmert, S.3
Imoto, K.4
Tamura, D.5
Digiovanna, J.J.6
Shahlavi, T.7
Armstrong, N.8
Baker, C.C.9
Neuburg, M.10
Zalewski, C.11
Brewer, C.12
Wiggs, E.13
Schiffmann, R.14
Kraemer, K.H.15
-
66
-
-
82455160991
-
Xeroderma pigmentosum
-
GeneReviews™ (updated 15.03.12)
-
Kraemer K., DiGiovanna J. Xeroderma pigmentosum. GeneReviews™ 2003, http://www.ncbi.nlm.nih.gov/books/NBK1397/. GeneReviews™ (updated 15.03.12).
-
(2003)
GeneReviews™
-
-
Kraemer, K.1
DiGiovanna, J.2
-
67
-
-
34247169028
-
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship
-
Kraemer K.H., Patronas N.J., Schiffmann R., Brooks B.P., Tamura D., DiGiovanna J.J. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience 2007, 145:1388-1396.
-
(2007)
Neuroscience
, vol.145
, pp. 1388-1396
-
-
Kraemer, K.H.1
Patronas, N.J.2
Schiffmann, R.3
Brooks, B.P.4
Tamura, D.5
DiGiovanna, J.J.6
-
68
-
-
79960363432
-
DNA damage response and transcription
-
Lagerwerf S., Vrouwe M.G., Overmeer R.M., Fousteri M.I., Mullenders L.H. DNA damage response and transcription. DNA Repair (Amst) 2011, 10:743-750.
-
(2011)
DNA Repair (Amst)
, vol.10
, pp. 743-750
-
-
Lagerwerf, S.1
Vrouwe, M.G.2
Overmeer, R.M.3
Fousteri, M.I.4
Mullenders, L.H.5
-
70
-
-
74749084156
-
UV-induced association of the CSB remodeling protein with chromatin requires ATP-dependent relief of N-terminal autorepression
-
Lake R.J., Geyko A., Hemashettar G., Zhao Y., Fan H.Y. UV-induced association of the CSB remodeling protein with chromatin requires ATP-dependent relief of N-terminal autorepression. Molecular Cell 2010, 37:235-246.
-
(2010)
Molecular Cell
, vol.37
, pp. 235-246
-
-
Lake, R.J.1
Geyko, A.2
Hemashettar, G.3
Zhao, Y.4
Fan, H.Y.5
-
71
-
-
77953193047
-
Involvement of global genome repair, transcription coupled repair, and chromatin remodeling in UV DNA damage response changes during development
-
Lans H., Marteijn J.A., Schumacher B., Hoeijmakers J.H., Jansen G., Vermeulen W. Involvement of global genome repair, transcription coupled repair, and chromatin remodeling in UV DNA damage response changes during development. PLoS Genetics 2010, 6:e1000941.
-
(2010)
PLoS Genetics
, vol.6
-
-
Lans, H.1
Marteijn, J.A.2
Schumacher, B.3
Hoeijmakers, J.H.4
Jansen, G.5
Vermeulen, W.6
-
72
-
-
33846613301
-
Increased apoptosis, p53 up-regulation, and cerebellar neuronal degeneration in repair-deficient Cockayne syndrome mice
-
Laposa R.R., Huang E.J., Cleaver J.E. Increased apoptosis, p53 up-regulation, and cerebellar neuronal degeneration in repair-deficient Cockayne syndrome mice. Proceedings of the National Academy of Sciences of the United States of America 2007, 104:1389-1394.
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, pp. 1389-1394
-
-
Laposa, R.R.1
Huang, E.J.2
Cleaver, J.E.3
-
73
-
-
84878016439
-
Cockayne syndrome: the expanding clinical and mutational spectrum
-
Laugel V. Cockayne syndrome: the expanding clinical and mutational spectrum. Mechanisms of Ageing and Development 2013, 134:161-170.
-
(2013)
Mechanisms of Ageing and Development
, vol.134
, pp. 161-170
-
-
Laugel, V.1
-
74
-
-
75149163382
-
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome
-
Laugel V., Dalloz C., Durand M., Sauvanaud F., Kristensen U., Vincent M.C., Pasquier L., Odent S., Cormier-Daire V., Gener B., Tobias E.S., Tolmie J.L., Martin-Coignard D., Drouin-Garraud V., Heron D., Journel H., Raffo E., Vigneron J., Lyonnet S., Murday V., Gubser-Mercati D., Funalot B., Brueton L., Sanchez Del Pozo J., Munoz E., Gennery A.R., Salih M., Noruzinia M., Prescott K., Ramos L., Stark Z., Fieggen K., Chabrol B., Sarda P., Edery P., Bloch-Zupan A., Fawcett H., Pham D., Egly J.M., Lehmann A.R., Sarasin A., Dollfus H. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Human Mutation 2010, 31:113-126.
-
(2010)
Human Mutation
, vol.31
, pp. 113-126
-
-
Laugel, V.1
Dalloz, C.2
Durand, M.3
Sauvanaud, F.4
Kristensen, U.5
Vincent, M.C.6
Pasquier, L.7
Odent, S.8
Cormier-Daire, V.9
Gener, B.10
Tobias, E.S.11
Tolmie, J.L.12
Martin-Coignard, D.13
Drouin-Garraud, V.14
Heron, D.15
Journel, H.16
Raffo, E.17
Vigneron, J.18
Lyonnet, S.19
Murday, V.20
Gubser-Mercati, D.21
Funalot, B.22
Brueton, L.23
Sanchez Del Pozo, J.24
Munoz, E.25
Gennery, A.R.26
Salih, M.27
Noruzinia, M.28
Prescott, K.29
Ramos, L.30
Stark, Z.31
Fieggen, K.32
Chabrol, B.33
Sarda, P.34
Edery, P.35
Bloch-Zupan, A.36
Fawcett, H.37
Pham, D.38
Egly, J.M.39
Lehmann, A.R.40
Sarasin, A.41
Dollfus, H.42
more..
-
75
-
-
51849110284
-
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation
-
Laugel V., Dalloz C., Tobias E.S., Tolmie J.L., Martin-Coignard D., Drouin-Garraud V., Valayannopoulos V., Sarasin A., Dollfus H. Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. Journal of Medical Genetics 2008, 45:564-571.
-
(2008)
Journal of Medical Genetics
, vol.45
, pp. 564-571
-
-
Laugel, V.1
Dalloz, C.2
Tobias, E.S.3
Tolmie, J.L.4
Martin-Coignard, D.5
Drouin-Garraud, V.6
Valayannopoulos, V.7
Sarasin, A.8
Dollfus, H.9
-
77
-
-
0037188888
-
Requirement of yeast RAD2, a homolog of human XPG gene, for efficient RNA polymerase II transcription. Implications for Cockayne syndrome
-
Lee S.K., Yu S.L., Prakash L., Prakash S. Requirement of yeast RAD2, a homolog of human XPG gene, for efficient RNA polymerase II transcription. Implications for Cockayne syndrome. Cell 2002, 109:823-834.
-
(2002)
Cell
, vol.109
, pp. 823-834
-
-
Lee, S.K.1
Yu, S.L.2
Prakash, L.3
Prakash, S.4
-
78
-
-
0021947236
-
Cockayne syndrome: clinicopathologic and tissue culture studies of affected siblings
-
Leech R.W., Brumback R.A., Miller R.H., Otsuka F., Tarone R.E., Robbins J.H. Cockayne syndrome: clinicopathologic and tissue culture studies of affected siblings. Journal of Neuropathology and Experimental Neurology 1985, 44:507-519.
-
(1985)
Journal of Neuropathology and Experimental Neurology
, vol.44
, pp. 507-519
-
-
Leech, R.W.1
Brumback, R.A.2
Miller, R.H.3
Otsuka, F.4
Tarone, R.E.5
Robbins, J.H.6
-
79
-
-
0020620561
-
Histopathology of the eye in Cockayne's syndrome
-
Levin P.S., Green W.R., Victor D.I., MacLean A.L. Histopathology of the eye in Cockayne's syndrome. Archives of Ophthalmology 1983, 101:1093-1097.
-
(1983)
Archives of Ophthalmology
, vol.101
, pp. 1093-1097
-
-
Levin, P.S.1
Green, W.R.2
Victor, D.I.3
MacLean, A.L.4
-
80
-
-
33646807832
-
The P53 pathway: what questions remain to be explored?
-
Levine A.J., Hu W., Feng Z. The P53 pathway: what questions remain to be explored?. Cell Death and Differentiation 2006, 13:1027-1036.
-
(2006)
Cell Death and Differentiation
, vol.13
, pp. 1027-1036
-
-
Levine, A.J.1
Hu, W.2
Feng, Z.3
-
82
-
-
67349121698
-
Cockayne syndrome group B protein is engaged in processing of DNA adducts of lipid peroxidation product trans-4-hydroxy-2-nonenal
-
Maddukuri L., Speina E., Christiansen M., Dudzinska D., Zaim J., Obtulowicz T., Kabaczyk S., Komisarski M., Bukowy Z., Szczegielniak J., Wojcik A., Kusmierek J.T., Stevnsner T., Bohr V.A., Tudek B. Cockayne syndrome group B protein is engaged in processing of DNA adducts of lipid peroxidation product trans-4-hydroxy-2-nonenal. Mutation Research 2009, 666:23-31.
-
(2009)
Mutation Research
, vol.666
, pp. 23-31
-
-
Maddukuri, L.1
Speina, E.2
Christiansen, M.3
Dudzinska, D.4
Zaim, J.5
Obtulowicz, T.6
Kabaczyk, S.7
Komisarski, M.8
Bukowy, Z.9
Szczegielniak, J.10
Wojcik, A.11
Kusmierek, J.T.12
Stevnsner, T.13
Bohr, V.A.14
Tudek, B.15
-
83
-
-
79551666065
-
Cockayne syndrome B protects against methamphetamine-enhanced oxidative DNA damage in murine fetal brain and postnatal neurodevelopmental deficits
-
McCallum G.P., Wong A.W., Wells P.G. Cockayne syndrome B protects against methamphetamine-enhanced oxidative DNA damage in murine fetal brain and postnatal neurodevelopmental deficits. Antioxidants and Redox Signalling 2011, 14:747-756.
-
(2011)
Antioxidants and Redox Signalling
, vol.14
, pp. 747-756
-
-
McCallum, G.P.1
Wong, A.W.2
Wells, P.G.3
-
84
-
-
0027378895
-
Mice with DNA repair gene (ERCC-1) deficiency have elevated levels of p53, liver nuclear abnormalities and die before weaning
-
McWhir J., Selfridge J., Harrison D.J., Squires S., Melton D.W. Mice with DNA repair gene (ERCC-1) deficiency have elevated levels of p53, liver nuclear abnormalities and die before weaning. Nature Genetics 1993, 5:217-224.
-
(1993)
Nature Genetics
, vol.5
, pp. 217-224
-
-
McWhir, J.1
Selfridge, J.2
Harrison, D.J.3
Squires, S.4
Melton, D.W.5
-
85
-
-
0033912653
-
Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene
-
Meira L.B., Graham J.M., Greenberg C.R., Busch D.B., Doughty A.T., Ziffer D.W., Coleman D.M., Savre-Train I., Friedberg E.C. Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. American Journal of Human Genetics 2000, 66:1221-1228.
-
(2000)
American Journal of Human Genetics
, vol.66
, pp. 1221-1228
-
-
Meira, L.B.1
Graham, J.M.2
Greenberg, C.R.3
Busch, D.B.4
Doughty, A.T.5
Ziffer, D.W.6
Coleman, D.M.7
Savre-Train, I.8
Friedberg, E.C.9
-
86
-
-
58849095932
-
Aag-initiated base excision repair drives alkylation-induced retinal degeneration in mice
-
Meira L.B., Moroski-Erkul C.A., Green S.L., Calvo J.A., Bronson R.T., Shah D., Samson L.D. Aag-initiated base excision repair drives alkylation-induced retinal degeneration in mice. Proceedings of the National Academy of Sciences of the United States of America 2009, 106:888-893.
-
(2009)
Proceedings of the National Academy of Sciences of the United States of America
, vol.106
, pp. 888-893
-
-
Meira, L.B.1
Moroski-Erkul, C.A.2
Green, S.L.3
Calvo, J.A.4
Bronson, R.T.5
Shah, D.6
Samson, L.D.7
-
88
-
-
40449112147
-
Mouse models for xeroderma pigmentosum group A and group C show divergent cancer phenotypes
-
Melis J.P., Wijnhoven S.W., Beems R.B., Roodbergen M., van den Berg J., Moon H., Friedberg E., van der Horst G.T., Hoeijmakers J.H., Vijg J., van Steeg H. Mouse models for xeroderma pigmentosum group A and group C show divergent cancer phenotypes. Cancer Research 2008, 68:1347-1353.
-
(2008)
Cancer Research
, vol.68
, pp. 1347-1353
-
-
Melis, J.P.1
Wijnhoven, S.W.2
Beems, R.B.3
Roodbergen, M.4
van den Berg, J.5
Moon, H.6
Friedberg, E.7
van der Horst, G.T.8
Hoeijmakers, J.H.9
Vijg, J.10
van Steeg, H.11
-
89
-
-
84871959255
-
Nucleotide excision repair-initiating proteins bind to oxidative DNA lesions in vivo
-
Menoni H., Hoeijmakers J.H., Vermeulen W. Nucleotide excision repair-initiating proteins bind to oxidative DNA lesions in vivo. Journal of Cell Biology 2012, 199:1037-1046.
-
(2012)
Journal of Cell Biology
, vol.199
, pp. 1037-1046
-
-
Menoni, H.1
Hoeijmakers, J.H.2
Vermeulen, W.3
-
90
-
-
0022537867
-
Neurological manifestations in xeroderma pigmentosum
-
Mimaki T., Itoh N., Abe J., Tagawa T., Sato K., Yabuuchi H., Takebe H. Neurological manifestations in xeroderma pigmentosum. Annals of Neurology 1986, 20:70-75.
-
(1986)
Annals of Neurology
, vol.20
, pp. 70-75
-
-
Mimaki, T.1
Itoh, N.2
Abe, J.3
Tagawa, T.4
Sato, K.5
Yabuuchi, H.6
Takebe, H.7
-
91
-
-
0029878940
-
Truncated XPA protein detected in atypical group A xeroderma pigmentosum
-
Mimaki T., Nitta M., Saijo M., Tachi N., Minami R., Tanaka K. Truncated XPA protein detected in atypical group A xeroderma pigmentosum. Acta Paediatrica 1996, 85:511-513.
-
(1996)
Acta Paediatrica
, vol.85
, pp. 511-513
-
-
Mimaki, T.1
Nitta, M.2
Saijo, M.3
Tachi, N.4
Minami, R.5
Tanaka, K.6
-
92
-
-
84860530692
-
Astrocytes and disease: a neurodevelopmental perspective
-
Molofsky A.V., Krenick R., Ullian E., Tsai H.-h.Deneen B., Richardson W.D., Barres B.A., Rowitch D.H. Astrocytes and disease: a neurodevelopmental perspective. Genes and Development 2012, 26:891-907.
-
(2012)
Genes and Development
, vol.26
, pp. 891-907
-
-
Molofsky, A.V.1
Krenick, R.2
Ullian, E.3
Tsai H.-h.Deneen, B.4
Richardson, W.D.5
Barres, B.A.6
Rowitch, D.H.7
-
93
-
-
84858397602
-
Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities
-
Moriwaki S., Takigawa M., Igarashi N., Nagai Y., Amano H., Ishikawa O., Khan S.G., Kraemer K.H. Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities. Experimental Dermatology 2012, 21:304-307.
-
(2012)
Experimental Dermatology
, vol.21
, pp. 304-307
-
-
Moriwaki, S.1
Takigawa, M.2
Igarashi, N.3
Nagai, Y.4
Amano, H.5
Ishikawa, O.6
Khan, S.G.7
Kraemer, K.H.8
-
94
-
-
66149114804
-
Cockayne Syndrome Group B Protein Stimulates Repair of Formamidopyrimidines by NEIL1 DNA Glycosylase
-
Muftuoglu M., de Souza-Pinto N.C., Dogan A., Aamann M., Stevnsner T., Rybanska I., Kirkali G., Dizdaroglu M., Bohr V.A. Cockayne Syndrome Group B Protein Stimulates Repair of Formamidopyrimidines by NEIL1 DNA Glycosylase. Journal of Biological Chemistry 2009, 284:9270-9279.
-
(2009)
Journal of Biological Chemistry
, 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
-
95
-
-
0035818496
-
Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes
-
Murai M., Enokido Y., Inamura N., Yoshino M., Nakatsu Y., van der Horst G.T., Hoeijmakers J.H., Tanaka K., Hatanaka H. Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes. Proceedings of the National Academy of Sciences of the United States of America 2001, 98:13379-13384.
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, pp. 13379-13384
-
-
Murai, M.1
Enokido, Y.2
Inamura, N.3
Yoshino, M.4
Nakatsu, Y.5
van der Horst, G.T.6
Hoeijmakers, J.H.7
Tanaka, K.8
Hatanaka, H.9
-
96
-
-
84866491686
-
MutT Homolog-1 attenuates oxidative DNA damage and delays photoreceptor cell death in inherited retinal degeneration
-
Murakami Y., Ikeda Y., Yoshida N., Notomi S., Hisatomi T., Oka S., De Luca G., Yonemitsu Y., Bignami M., Nakabeppu Y., Ishibashi T. MutT Homolog-1 attenuates oxidative DNA damage and delays photoreceptor cell death in inherited retinal degeneration. American Journal of Pathology 2012, 181:1378-1386.
-
(2012)
American Journal of Pathology
, vol.181
, pp. 1378-1386
-
-
Murakami, Y.1
Ikeda, Y.2
Yoshida, N.3
Notomi, S.4
Hisatomi, T.5
Oka, S.6
De Luca, G.7
Yonemitsu, Y.8
Bignami, M.9
Nakabeppu, Y.10
Ishibashi, T.11
-
97
-
-
55149113452
-
Impaired spermatogenesis and elevated spontaneous tumorigenesis in xeroderma pigmentosum group A gene (Xpa)-deficient mice
-
Nakane H., Hirota S., Brooks P.J., Nakabeppu Y., Nakatsu Y., Nishimune Y., Iino A., Tanaka K. Impaired spermatogenesis and elevated spontaneous tumorigenesis in xeroderma pigmentosum group A gene (Xpa)-deficient mice. DNA Repair (Amst) 2008, 7:1938-1950.
-
(2008)
DNA Repair (Amst)
, vol.7
, pp. 1938-1950
-
-
Nakane, H.1
Hirota, S.2
Brooks, P.J.3
Nakabeppu, Y.4
Nakatsu, Y.5
Nishimune, Y.6
Iino, A.7
Tanaka, K.8
-
98
-
-
84860330507
-
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair
-
Nakazawa Y., Sasaki K., Mitsutake N., Matsuse M., Shimada M., Nardo T., Takahashi Y., Ohyama K., Ito K., Mishima H., Nomura M., Kinoshita A., Ono S., Takenaka K., Masuyama R., Kudo T., Slor H., Utani A., Tateishi S., Yamashita S., Stefanini M., Lehmann A.R., Yoshiura K.I., Ogi T. Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. Nature Genetics 2012, 44:586-592.
-
(2012)
Nature Genetics
, vol.44
, pp. 586-592
-
-
Nakazawa, Y.1
Sasaki, K.2
Mitsutake, N.3
Matsuse, M.4
Shimada, M.5
Nardo, T.6
Takahashi, Y.7
Ohyama, K.8
Ito, K.9
Mishima, H.10
Nomura, M.11
Kinoshita, A.12
Ono, S.13
Takenaka, K.14
Masuyama, R.15
Kudo, T.16
Slor, H.17
Utani, A.18
Tateishi, S.19
Yamashita, S.20
Stefanini, M.21
Lehmann, A.R.22
Yoshiura, K.I.23
Ogi, T.24
more..
-
99
-
-
77952110974
-
A semi-automated non-radioactive system for measuring recovery of RNA synthesis and unscheduled DNA synthesis using ethynyluracil derivatives
-
Nakazawa Y., Yamashita S., Lehmann A.R., Ogi T. A semi-automated non-radioactive system for measuring recovery of RNA synthesis and unscheduled DNA synthesis using ethynyluracil derivatives. DNA Repair (Amst) 2010, 9:506-516.
-
(2010)
DNA Repair (Amst)
, vol.9
, pp. 506-516
-
-
Nakazawa, Y.1
Yamashita, S.2
Lehmann, A.R.3
Ogi, T.4
-
101
-
-
65549153127
-
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage
-
Nardo T., Oneda R., Spivak G., Vaz B., Mortier L., Thomas P., Orioli D., Laugel V., Stary A., Hanawalt P.C., Sarasin A., Stefanini M. A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. Proceedings of the National Academy of Sciences of the United States of America 2009, 106:6209-6214.
-
(2009)
Proceedings of the National Academy of Sciences of the United States of America
, vol.106
, pp. 6209-6214
-
-
Nardo, T.1
Oneda, R.2
Spivak, G.3
Vaz, B.4
Mortier, L.5
Thomas, P.6
Orioli, D.7
Laugel, V.8
Stary, A.9
Hanawalt, P.C.10
Sarasin, A.11
Stefanini, M.12
-
102
-
-
79955014012
-
A comprehensive description of the severity groups in Cockayne syndrome
-
Natale V. A comprehensive description of the severity groups in Cockayne syndrome. American Journal of Medical Genetics A 2011, 155A:1081-1095.
-
(2011)
American Journal of Medical Genetics A
, vol.155 A
, pp. 1081-1095
-
-
Natale, V.1
-
103
-
-
41949120418
-
An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome
-
Newman J.C., Bailey A.D., Fan H.Y., Pavelitz T., Weiner A.M. An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome. PLoS Genetics 2008, 4:e1000031.
-
(2008)
PLoS Genetics
, vol.4
-
-
Newman, J.C.1
Bailey, A.D.2
Fan, H.Y.3
Pavelitz, T.4
Weiner, A.M.5
-
104
-
-
84859569057
-
Age-related skeletal dynamics and decrease in bone strength in DNA repair deficient male trichothiodystrophy mice
-
Nicolaije C., Diderich K.E., Botter S.M., Priemel M., Waarsing J.H., Day J.S., Brandt R.M., Schilling A.F., Weinans H., Van der Eerden B.C., van der Horst G.T., Hoeijmakers J.H., van Leeuwen J.P. Age-related skeletal dynamics and decrease in bone strength in DNA repair deficient male trichothiodystrophy mice. PLoS One 2012, 7:e35246.
-
(2012)
PLoS One
, vol.7
-
-
Nicolaije, C.1
Diderich, K.E.2
Botter, S.M.3
Priemel, M.4
Waarsing, J.H.5
Day, J.S.6
Brandt, R.M.7
Schilling, A.F.8
Weinans, H.9
Van der Eerden, B.C.10
van der Horst, G.T.11
Hoeijmakers, J.H.12
van Leeuwen, J.P.13
-
105
-
-
49949152164
-
Nucleotide excision repair deficient mouse models and neurological disease
-
Niedernhofer L.J. Nucleotide excision repair deficient mouse models and neurological disease. DNA Repair (Amst) 2008, 7:1180-1189.
-
(2008)
DNA Repair (Amst)
, vol.7
, pp. 1180-1189
-
-
Niedernhofer, L.J.1
-
106
-
-
33845914051
-
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis
-
Niedernhofer L.J., Garinis G.A., Raams A., Lalai A.S., Robinson A.R., Appeldoorn E., Odijk H., Oostendorp R., Ahmad A., van Leeuwen W., Theil A.F., Vermeulen W., van der Horst G.T., Meinecke P., Kleijer W.J., Vijg J., Jaspers N.G., Hoeijmakers J.H. A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis. Nature 2006, 444:1038-1043.
-
(2006)
Nature
, vol.444
, pp. 1038-1043
-
-
Niedernhofer, L.J.1
Garinis, G.A.2
Raams, A.3
Lalai, A.S.4
Robinson, A.R.5
Appeldoorn, E.6
Odijk, H.7
Oostendorp, R.8
Ahmad, A.9
van Leeuwen, W.10
Theil, A.F.11
Vermeulen, W.12
van der Horst, G.T.13
Meinecke, P.14
Kleijer, W.J.15
Vijg, J.16
Jaspers, N.G.17
Hoeijmakers, J.H.18
-
107
-
-
44949126999
-
Nucleotide excision repair and neurological diseases
-
Nouspikel T. Nucleotide excision repair and neurological diseases. DNA Repair (Amst) 2008, 7:1155-1167.
-
(2008)
DNA Repair (Amst)
, vol.7
, pp. 1155-1167
-
-
Nouspikel, T.1
-
108
-
-
79960449136
-
Multiple roles of ubiquitination in the control of nucleotide excision repair
-
Nouspikel T. Multiple roles of ubiquitination in the control of nucleotide excision repair. Mechanisms of Ageing and Development 2011, 132:355-365.
-
(2011)
Mechanisms of Ageing and Development
, vol.132
, pp. 355-365
-
-
Nouspikel, T.1
-
109
-
-
33750922149
-
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome
-
Oh K.S., Khan S.G., Jaspers N.G., Raams A., Ueda T., Lehmann A., Friedmann P.S., Emmert S., Gratchev A., Lachlan K., Lucassan A., Baker C.C., Kraemer K.H. Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. Human Mutation 2006, 27:1092-1103.
-
(2006)
Human Mutation
, vol.27
, pp. 1092-1103
-
-
Oh, K.S.1
Khan, S.G.2
Jaspers, N.G.3
Raams, A.4
Ueda, T.5
Lehmann, A.6
Friedmann, P.S.7
Emmert, S.8
Gratchev, A.9
Lachlan, K.10
Lucassan, A.11
Baker, C.C.12
Kraemer, K.H.13
-
110
-
-
65349127253
-
Accumulation of mitochondrial DNA damage and bioenergetic dysfunction in CSB defective cells
-
Osenbroch P.O., Auk-Emblem P., Halsne R., Strand J., Forstrom R.J., van der Pluijm I., Eide L. Accumulation of mitochondrial DNA damage and bioenergetic dysfunction in CSB defective cells. FEBS Journal 2009, 276:2811-2821.
-
(2009)
FEBS Journal
, vol.276
, pp. 2811-2821
-
-
Osenbroch, P.O.1
Auk-Emblem, P.2
Halsne, R.3
Strand, J.4
Forstrom, R.J.5
van der Pluijm, I.6
Eide, L.7
-
111
-
-
18744368449
-
A global DNA repair mechanism involving the Cockayne syndrome B (CSB) gene product can prevent the in vivo accumulation of endogenous oxidative DNA base damage
-
Osterod M., Larsen E., Le Page F., Hengstler J.G., Van Der Horst G.T., Boiteux S., Klungland A., Epe B. A global DNA repair mechanism involving the Cockayne syndrome B (CSB) gene product can prevent the in vivo accumulation of endogenous oxidative DNA base damage. Oncogene 2002, 21:8232-8239.
-
(2002)
Oncogene
, vol.21
, pp. 8232-8239
-
-
Osterod, M.1
Larsen, E.2
Le Page, F.3
Hengstler, J.G.4
Van Der Horst, G.T.5
Boiteux, S.6
Klungland, A.7
Epe, B.8
-
112
-
-
48649106278
-
Homeostatic imbalance between apoptosis and cell renewal in the liver of premature aging Xpd mice
-
Park J.Y., Cho M.O., Leonard S., Calder B., Mian I.S., Kim W.H., Wijnhoven S., van Steeg H., Mitchell J., van der Horst G.T., Hoeijmakers J., Cohen P., Vijg J., Suh Y. Homeostatic imbalance between apoptosis and cell renewal in the liver of premature aging Xpd mice. PLoS One 2008, 3:e2346.
-
(2008)
PLoS One
, vol.3
-
-
Park, J.Y.1
Cho, M.O.2
Leonard, S.3
Calder, B.4
Mian, I.S.5
Kim, W.H.6
Wijnhoven, S.7
van Steeg, H.8
Mitchell, J.9
van der Horst, G.T.10
Hoeijmakers, J.11
Cohen, P.12
Vijg, J.13
Suh, Y.14
-
114
-
-
84856273853
-
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids
-
Rademakers R., Baker M., Nicholson A.M., Rutherford N.J., Finch N., Soto-Ortolaza A., Lash J., Wider C., Wojtas A., DeJesus-Hernandez M., Adamson J., Kouri N., Sundal C., Shuster E.A., Aasly J., MacKenzie J., Roeber S., Kretzschmar H.A., Boeve B.F., Knopman D.S., Petersen R.C., Cairns N.J., Ghetti B., Spina S., Garbern J., Tselis A.C., Uitti R., Das P., Van Gerpen J.A., Meschia J.F., Levy S., Broderick D.F., Graff-Radford N., Ross O.A., Miller B.B., Swerdlow R.H., Dickson D.W., Wszolek Z.K. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nature Genetics 2012, 44:200-205.
-
(2012)
Nature Genetics
, vol.44
, pp. 200-205
-
-
Rademakers, R.1
Baker, M.2
Nicholson, A.M.3
Rutherford, N.J.4
Finch, N.5
Soto-Ortolaza, A.6
Lash, J.7
Wider, C.8
Wojtas, A.9
DeJesus-Hernandez, M.10
Adamson, J.11
Kouri, N.12
Sundal, C.13
Shuster, E.A.14
Aasly, J.15
MacKenzie, J.16
Roeber, S.17
Kretzschmar, H.A.18
Boeve, B.F.19
Knopman, D.S.20
Petersen, R.C.21
Cairns, N.J.22
Ghetti, B.23
Spina, S.24
Garbern, J.25
Tselis, A.C.26
Uitti, R.27
Das, P.28
Van Gerpen, J.A.29
Meschia, J.F.30
Levy, S.31
Broderick, D.F.32
Graff-Radford, N.33
Ross, O.A.34
Miller, B.B.35
Swerdlow, R.H.36
Dickson, D.W.37
Wszolek, Z.K.38
more..
-
115
-
-
33846330887
-
Cockayne syndrome in adults: review with clinical and pathologic study of a new case
-
Rapin I., Weidenheim K., Lindenbaum Y., Rosenbaum P., Merchant S.N., Krishna S., Dickson D.W. Cockayne syndrome in adults: review with clinical and pathologic study of a new case. Journal of Child Neurology 2006, 21:991-1006.
-
(2006)
Journal of Child Neurology
, vol.21
, pp. 991-1006
-
-
Rapin, I.1
Weidenheim, K.2
Lindenbaum, Y.3
Rosenbaum, P.4
Merchant, S.N.5
Krishna, S.6
Dickson, D.W.7
-
116
-
-
84858649212
-
Dysmyelination not demyelination causes neurological symptoms in preweaned mice in a murine model of Cockayne syndrome
-
Revet I., Feeney L., Tang A.A., Huang E.J., Cleaver J.E. Dysmyelination not demyelination causes neurological symptoms in preweaned mice in a murine model of Cockayne syndrome. Proceedings of the National Academy of Sciences of the United States of America 2012, 109:4627-4632.
-
(2012)
Proceedings of the National Academy of Sciences of the United States of America
, vol.109
, pp. 4627-4632
-
-
Revet, I.1
Feeney, L.2
Tang, A.A.3
Huang, E.J.4
Cleaver, J.E.5
-
117
-
-
26944448202
-
Recognition of RNA polymerase II and transcription bubbles by XPG, CSB, and TFIIH: insights for transcription-coupled repair and Cockayne Syndrome
-
Sarker A.H., Tsutakawa S.E., Kostek S., Ng C., Shin D.S., Peris M., Campeau E., Tainer J.A., Nogales E., Cooper P.K. Recognition of RNA polymerase II and transcription bubbles by XPG, CSB, and TFIIH: insights for transcription-coupled repair and Cockayne Syndrome. Molecular Cell 2005, 20:187-198.
-
(2005)
Molecular Cell
, vol.20
, pp. 187-198
-
-
Sarker, A.H.1
Tsutakawa, S.E.2
Kostek, S.3
Ng, C.4
Shin, D.S.5
Peris, M.6
Campeau, E.7
Tainer, J.A.8
Nogales, E.9
Cooper, P.K.10
-
118
-
-
84859823735
-
Biological role of lutein in the light-induced retinal degeneration
-
Sasaki M., Yuki K., Kurihara T., Miyake S., Noda K., Kobayashi S., Ishida S., Tsubota K., Ozawa Y. Biological role of lutein in the light-induced retinal degeneration. Journal of Nutritional Biochemistry 2012, 23:423-429.
-
(2012)
Journal of Nutritional Biochemistry
, vol.23
, pp. 423-429
-
-
Sasaki, M.1
Yuki, K.2
Kurihara, T.3
Miyake, S.4
Noda, K.5
Kobayashi, S.6
Ishida, S.7
Tsubota, K.8
Ozawa, Y.9
-
121
-
-
84861749572
-
Cockayne syndrome group B protein prevents the accumulation of damaged mitochondria by promoting mitochondrial autophagy
-
Scheibye-Knudsen M., Ramamoorthy M., Sykora P., Maynard S., Lin P.C., Minor R.K., Wilson D.M., Cooper M., Spencer R., de Cabo R., Croteau D.L., Bohr V.A. Cockayne syndrome group B protein prevents the accumulation of damaged mitochondria by promoting mitochondrial autophagy. Journal of Experimental Medicine 2012, 209:855-869.
-
(2012)
Journal of Experimental Medicine
, vol.209
, pp. 855-869
-
-
Scheibye-Knudsen, M.1
Ramamoorthy, M.2
Sykora, P.3
Maynard, S.4
Lin, P.C.5
Minor, R.K.6
Wilson, D.M.7
Cooper, M.8
Spencer, R.9
de Cabo, R.10
Croteau, D.L.11
Bohr, V.A.12
-
122
-
-
50849100719
-
Delayed and accelerated aging share common longevity assurance mechanisms
-
Schumacher B., van der Pluijm I., Moorhouse M.J., Kosteas T., Robinson A.R., Suh Y., Breit T.M., van Steeg H., Niedernhofer L.J., van Ijcken W., Bartke A., Spindler S.R., Hoeijmakers J.H., van der Horst G.T., Garinis G.A. Delayed and accelerated aging share common longevity assurance mechanisms. PLoS Genetics 2008, 4:e1000161.
-
(2008)
PLoS Genetics
, vol.4
-
-
Schumacher, B.1
van der Pluijm, I.2
Moorhouse, M.J.3
Kosteas, T.4
Robinson, A.R.5
Suh, Y.6
Breit, T.M.7
van Steeg, H.8
Niedernhofer, L.J.9
van Ijcken, W.10
Bartke, A.11
Spindler, S.R.12
Hoeijmakers, J.H.13
van der Horst, G.T.14
Garinis, G.A.15
-
123
-
-
84860330462
-
UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair
-
Schwertman P., Lagarou A., Dekkers D.H., Raams A., van der Hoek A.C., Laffeber C., Hoeijmakers J.H., Demmers J.A., Fousteri M., Vermeulen W., Marteijn J.A. UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair. Nature Genetics 2012, 44:589-602.
-
(2012)
Nature Genetics
, vol.44
, pp. 589-602
-
-
Schwertman, P.1
Lagarou, A.2
Dekkers, D.H.3
Raams, A.4
van der Hoek, A.C.5
Laffeber, C.6
Hoeijmakers, J.H.7
Demmers, J.A.8
Fousteri, M.9
Vermeulen, W.10
Marteijn, J.A.11
-
124
-
-
0035890838
-
Correction of liver dysfunction in DNA repair-deficient mice with an ERCC1 transgene
-
Selfridge J., Hsia K.T., Redhead N.J., Melton D.W. Correction of liver dysfunction in DNA repair-deficient mice with an ERCC1 transgene. Nucleic Acids Research 2001, 29:4541-4550.
-
(2001)
Nucleic Acids Research
, vol.29
, pp. 4541-4550
-
-
Selfridge, J.1
Hsia, K.T.2
Redhead, N.J.3
Melton, D.W.4
-
125
-
-
1942518432
-
Identification of the XPG region that causes the onset of Cockayne syndrome by using Xpg mutant mice generated by the cDNA-mediated knock-in method
-
Shiomi N., Kito S., Oyama M., Matsunaga T., Harada Y.N., Ikawa M., Okabe M., Shiomi T. Identification of the XPG region that causes the onset of Cockayne syndrome by using Xpg mutant mice generated by the cDNA-mediated knock-in method. Molecular and Cellular Biology 2004, 24:3712-3719.
-
(2004)
Molecular and Cellular Biology
, vol.24
, pp. 3712-3719
-
-
Shiomi, N.1
Kito, S.2
Oyama, M.3
Matsunaga, T.4
Harada, Y.N.5
Ikawa, M.6
Okabe, M.7
Shiomi, T.8
-
126
-
-
12344254734
-
Severe growth retardation and short life span of double-mutant mice lacking Xpa and exon 15 of Xpg
-
Shiomi N., Mori M., Kito S., Harada Y.N., Tanaka K., Shiomi T. Severe growth retardation and short life span of double-mutant mice lacking Xpa and exon 15 of Xpg. DNA Repair (Amst) 2005, 4:351-357.
-
(2005)
DNA Repair (Amst)
, vol.4
, pp. 351-357
-
-
Shiomi, N.1
Mori, M.2
Kito, S.3
Harada, Y.N.4
Tanaka, K.5
Shiomi, T.6
-
127
-
-
0018732978
-
Cockayne syndrome: unusual neuropathological findings and review of the literature
-
Soffer D., Grotsky H.W., Rapin I., Suzuki K. Cockayne syndrome: unusual neuropathological findings and review of the literature. Annals of Neurology 1979, 6:340-348.
-
(1979)
Annals of Neurology
, vol.6
, pp. 340-348
-
-
Soffer, D.1
Grotsky, H.W.2
Rapin, I.3
Suzuki, K.4
-
128
-
-
84873994357
-
Novel XPG (ERCC5) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress
-
Soltys D.T., Rocha C.R., Lerner L.K., de Souza T.A., Munford V., Cabral F., Nardo T., Stefanini M., Sarasin A., Cabral-Neto J.B., Menck C.F. Novel XPG (ERCC5) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress. Human Mutation 2013, 34:481-489.
-
(2013)
Human Mutation
, vol.34
, pp. 481-489
-
-
Soltys, D.T.1
Rocha, C.R.2
Lerner, L.K.3
de Souza, T.A.4
Munford, V.5
Cabral, F.6
Nardo, T.7
Stefanini, M.8
Sarasin, A.9
Cabral-Neto, J.B.10
Menck, C.F.11
-
129
-
-
77952419183
-
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa
-
Soufir N., Ged C., Bourillon A., Austerlitz F., Chemin C., Stary A., Armier J., Pham D., Khadir K., Roume J., Hadj-Rabia S., Bouadjar B., Taieb A., de Verneuil H., Benchiki H., Grandchamp B., Sarasin A. A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. Journal of Investigative Dermatology 2010, 130:1537-1542.
-
(2010)
Journal of Investigative Dermatology
, vol.130
, pp. 1537-1542
-
-
Soufir, N.1
Ged, C.2
Bourillon, A.3
Austerlitz, F.4
Chemin, C.5
Stary, A.6
Armier, J.7
Pham, D.8
Khadir, K.9
Roume, J.10
Hadj-Rabia, S.11
Bouadjar, B.12
Taieb, A.13
de Verneuil, H.14
Benchiki, H.15
Grandchamp, B.16
Sarasin, A.17
-
130
-
-
24044522541
-
UV-sensitive syndrome
-
Spivak G. UV-sensitive syndrome. Mutation Research 2005, 577:162-169.
-
(2005)
Mutation Research
, vol.577
, pp. 162-169
-
-
Spivak, G.1
-
131
-
-
29244483920
-
Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts
-
Spivak G., Hanawalt P.C. Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts. DNA Repair (Amst) 2006, 5:13-22.
-
(2006)
DNA Repair (Amst)
, vol.5
, pp. 13-22
-
-
Spivak, G.1
Hanawalt, P.C.2
-
132
-
-
72949115497
-
Trichothiodystrophy: from basic mechanisms to clinical implications
-
Stefanini M., Botta E., Lanzafame M., Orioli D. Trichothiodystrophy: from basic mechanisms to clinical implications. DNA Repair (Amst) 2010, 9:2-10.
-
(2010)
DNA Repair (Amst)
, vol.9
, pp. 2-10
-
-
Stefanini, M.1
Botta, E.2
Lanzafame, M.3
Orioli, D.4
-
133
-
-
45449093552
-
The role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging
-
Stevnsner T., Muftuoglu M., Aamann M.D., Bohr V.A. The role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging. Mechanisms of Ageing and Development 2008, 129:441-448.
-
(2008)
Mechanisms of Ageing and Development
, vol.129
, pp. 441-448
-
-
Stevnsner, T.1
Muftuoglu, M.2
Aamann, M.D.3
Bohr, V.A.4
-
134
-
-
0035872290
-
Purkinje cell degeneration in mice lacking the xeroderma pigmentosum group G gene
-
Sun X.Z., Harada Y.N., Takahashi S., Shiomi N., Shiomi T. Purkinje cell degeneration in mice lacking the xeroderma pigmentosum group G gene. Journal of Neuroscience Research 2001, 64:348-354.
-
(2001)
Journal of Neuroscience Research
, vol.64
, pp. 348-354
-
-
Sun, X.Z.1
Harada, Y.N.2
Takahashi, S.3
Shiomi, N.4
Shiomi, T.5
-
135
-
-
63549090960
-
Congenital DNA repair deficiency results in protection against renal ischemia reperfusion injury in mice
-
Susa D., Mitchell J.R., Verweij M., van de Ven M., Roest H., van den Engel S., Bajema I., Mangundap K., Ijzermans J.N., Hoeijmakers J.H., de Bruin R.W. Congenital DNA repair deficiency results in protection against renal ischemia reperfusion injury in mice. Aging Cell 2009, 8:192-200.
-
(2009)
Aging Cell
, vol.8
, pp. 192-200
-
-
Susa, D.1
Mitchell, J.R.2
Verweij, M.3
van de Ven, M.4
Roest, H.5
van den Engel, S.6
Bajema, I.7
Mangundap, K.8
Ijzermans, J.N.9
Hoeijmakers, J.H.10
de Bruin, R.W.11
-
136
-
-
24344452412
-
Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome
-
Theron T., Fousteri M.I., Volker M., Harries L.W., Botta E., Stefanini M., Fujimoto M., Andressoo J.O., Mitchell J., Jaspers N.G., McDaniel L.D., Mullenders L.H., Lehmann A.R. Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome. Molecular and Cellular Biology 2005, 25:8368-8378.
-
(2005)
Molecular and Cellular Biology
, vol.25
, pp. 8368-8378
-
-
Theron, T.1
Fousteri, M.I.2
Volker, M.3
Harries, L.W.4
Botta, E.5
Stefanini, M.6
Fujimoto, M.7
Andressoo, J.O.8
Mitchell, J.9
Jaspers, N.G.10
McDaniel, L.D.11
Mullenders, L.H.12
Lehmann, A.R.13
-
137
-
-
10044268665
-
Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage
-
Thorel F., Constantinou A., Dunand-Sauthier I., Nouspikel T., Lalle P., Raams A., Jaspers N.G., Vermeulen W., Shivji M.K., Wood R.D., Clarkson S.G. Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage. Molecular and Cellular Biology 2004, 24:10670-10680.
-
(2004)
Molecular and Cellular Biology
, vol.24
, pp. 10670-10680
-
-
Thorel, F.1
Constantinou, A.2
Dunand-Sauthier, I.3
Nouspikel, T.4
Lalle, P.5
Raams, A.6
Jaspers, N.G.7
Vermeulen, W.8
Shivji, M.K.9
Wood, R.D.10
Clarkson, S.G.11
-
138
-
-
23844483200
-
Cooperation of the Cockayne syndrome group B protein and poly(ADP-ribose) polymerase 1 in the response to oxidative stress
-
Thorslund T., von Kobbe C., Harrigan J.A., Indig F.E., Christiansen M., Stevnsner T., Bohr V.A. Cooperation of the Cockayne syndrome group B protein and poly(ADP-ribose) polymerase 1 in the response to oxidative stress. Molecular and Cellular Biology 2005, 25:7625-7636.
-
(2005)
Molecular and Cellular Biology
, vol.25
, pp. 7625-7636
-
-
Thorslund, T.1
von Kobbe, C.2
Harrigan, J.A.3
Indig, F.E.4
Christiansen, M.5
Stevnsner, T.6
Bohr, V.A.7
-
139
-
-
1542284083
-
Deficiency in the nuclease activity of xeroderma pigmentosum G in mice leads to hypersensitivity to UV irradiation
-
Tian M., Jones D.A., Smith M., Shinkura R., Alt F.W. Deficiency in the nuclease activity of xeroderma pigmentosum G in mice leads to hypersensitivity to UV irradiation. Molecular and Cellular Biology 2004, 24:2237-2242.
-
(2004)
Molecular and Cellular Biology
, vol.24
, pp. 2237-2242
-
-
Tian, M.1
Jones, D.A.2
Smith, M.3
Shinkura, R.4
Alt, F.W.5
-
140
-
-
1542309071
-
Growth retardation, early death, and DNA repair defects in mice deficient for the nucleotide excision repair enzyme XPF
-
Tian M., Shinkura R., Shinkura N., Alt F.W. Growth retardation, early death, and DNA repair defects in mice deficient for the nucleotide excision repair enzyme XPF. Molecular and Cellular Biology 2004, 24:1200-1205.
-
(2004)
Molecular and Cellular Biology
, vol.24
, pp. 1200-1205
-
-
Tian, M.1
Shinkura, R.2
Shinkura, N.3
Alt, F.W.4
-
141
-
-
34250024325
-
Deficiency of the Cockayne syndrome B (CSB) gene aggravates the genomic instability caused by endogenous oxidative DNA base damage in mice
-
Trapp C., Reite K., Klungland A., Epe B. Deficiency of the Cockayne syndrome B (CSB) gene aggravates the genomic instability caused by endogenous oxidative DNA base damage in mice. Oncogene 2007, 26:4044-4048.
-
(2007)
Oncogene
, vol.26
, pp. 4044-4048
-
-
Trapp, C.1
Reite, K.2
Klungland, A.3
Epe, B.4
-
142
-
-
79959189301
-
The DNA repair endonuclease XPG interacts directly and functionally with the WRN helicase defective in Werner syndrome
-
Trego K.S., Chernikova S.B., Davalos A.R., Perry J.J., Finger L.D., Ng C., Tsai M.S., Yannone S.M., Tainer J.A., Campisi J., Cooper P.K. The DNA repair endonuclease XPG interacts directly and functionally with the WRN helicase defective in Werner syndrome. Cell Cycle 2011, 10:1998-2007.
-
(2011)
Cell Cycle
, vol.10
, pp. 1998-2007
-
-
Trego, K.S.1
Chernikova, S.B.2
Davalos, A.R.3
Perry, J.J.4
Finger, L.D.5
Ng, C.6
Tsai, M.S.7
Yannone, S.M.8
Tainer, J.A.9
Campisi, J.10
Cooper, P.K.11
-
143
-
-
0026465665
-
ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes
-
Troelstra C., van Gool A., de Wit J., Vermeulen W., Bootsma D., Hoeijmakers J.H. ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes. Cell 1992, 71:939-953.
-
(1992)
Cell
, vol.71
, pp. 939-953
-
-
Troelstra, C.1
van Gool, A.2
de Wit, J.3
Vermeulen, W.4
Bootsma, D.5
Hoeijmakers, J.H.6
-
144
-
-
33845611248
-
Adaptive stress response in segmental progeria resembles long-lived dwarfism and calorie restriction in mice
-
van de Ven M., Andressoo J.O., Holcomb V.B., von Lindern M., Jong W.M., De Zeeuw C.I., Suh Y., Hasty P., Hoeijmakers J.H., van der Horst G.T., Mitchell J.R. Adaptive stress response in segmental progeria resembles long-lived dwarfism and calorie restriction in mice. PLoS Genetics 2006, 2:e192.
-
(2006)
PLoS Genetics
, vol.2
-
-
van de Ven, M.1
Andressoo, J.O.2
Holcomb, V.B.3
von Lindern, M.4
Jong, W.M.5
De Zeeuw, C.I.6
Suh, Y.7
Hasty, P.8
Hoeijmakers, J.H.9
van der Horst, G.T.10
Mitchell, J.R.11
-
145
-
-
84868206689
-
Effects of compound heterozygosity at the Xpd locus on cancer and ageing in mouse models
-
van de Ven M., Andressoo J.O., van der Horst G.T., Hoeijmakers J.H., Mitchell J.R. Effects of compound heterozygosity at the Xpd locus on cancer and ageing in mouse models. DNA Repair (Amst) 2012, 11:874-883.
-
(2012)
DNA Repair (Amst)
, vol.11
, pp. 874-883
-
-
van de Ven, M.1
Andressoo, J.O.2
van der Horst, G.T.3
Hoeijmakers, J.H.4
Mitchell, J.R.5
-
146
-
-
0036012784
-
UVB radiation-induced cancer predisposition in Cockayne syndrome group A (Csa) mutant mice
-
van der Horst G.T., Meira L., Gorgels T.G., de Wit J., Velasco-Miguel S., Richardson J.A., Kamp Y., Vreeswijk M.P., Smit B., Bootsma D., Hoeijmakers J.H., Friedberg E.C. UVB radiation-induced cancer predisposition in Cockayne syndrome group A (Csa) mutant mice. DNA Repair (Amst) 2002, 1:143-157.
-
(2002)
DNA Repair (Amst)
, vol.1
, pp. 143-157
-
-
van der Horst, G.T.1
Meira, L.2
Gorgels, T.G.3
de Wit, J.4
Velasco-Miguel, S.5
Richardson, J.A.6
Kamp, Y.7
Vreeswijk, M.P.8
Smit, B.9
Bootsma, D.10
Hoeijmakers, J.H.11
Friedberg, E.C.12
-
147
-
-
0030916337
-
Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition
-
van der Horst G.T., van Steeg H., Berg R.J., van Gool A.J., de Wit J., Weeda G., Morreau H., Beems R.B., van Kreijl C.F., de Gruijl F.R., Bootsma D., Hoeijmakers J.H. Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. Cell 1997, 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
-
149
-
-
33846030099
-
Impaired genome maintenance suppresses the growth hormone - insulin-like growth factor 1 axis in mice with Cockayne syndrome
-
van der Pluijm I., Garinis G.A., Brandt R.M., Gorgels T.G., Wijnhoven S.W., Diderich K.E., de Wit J., Mitchell J.R., van Oostrom C., Beems R., Niedernhofer L.J., Velasco S., Friedberg E.C., Tanaka K., van Steeg H., Hoeijmakers J.H., van der Horst G.T. Impaired genome maintenance suppresses the growth hormone - insulin-like growth factor 1 axis in mice with Cockayne syndrome. PLoS Biology 2007, 5:e2.
-
(2007)
PLoS Biology
, vol.5
-
-
van der Pluijm, I.1
Garinis, G.A.2
Brandt, R.M.3
Gorgels, T.G.4
Wijnhoven, S.W.5
Diderich, K.E.6
de Wit, J.7
Mitchell, J.R.8
van Oostrom, C.9
Beems, R.10
Niedernhofer, L.J.11
Velasco, S.12
Friedberg, E.C.13
Tanaka, K.14
van Steeg, H.15
Hoeijmakers, J.H.16
van der Horst, G.T.17
-
150
-
-
12944300387
-
Differential role of transcription-coupled repair in UVB-induced G2 arrest and apoptosis in mouse epidermis
-
van Oosten M., Rebel H., Friedberg E.C., van Steeg H., van der Horst G.T., van Kranen H.J., Westerman A., van Zeeland A.A., Mullenders L.H., de Gruijl F.R. Differential role of transcription-coupled repair in UVB-induced G2 arrest and apoptosis in mouse epidermis. Proceedings of the National Academy of Sciences of the United States of America 2000, 97:11268-11273.
-
(2000)
Proceedings of the National Academy of Sciences of the United States of America
, vol.97
, pp. 11268-11273
-
-
van Oosten, M.1
Rebel, H.2
Friedberg, E.C.3
van Steeg, H.4
van der Horst, G.T.5
van Kranen, H.J.6
Westerman, A.7
van Zeeland, A.A.8
Mullenders, L.H.9
de Gruijl, F.R.10
-
152
-
-
0033768176
-
Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder
-
Vermeulen W., Bergmann E., Auriol J., Rademakers S., Frit P., Appeldoorn E., Hoeijmakers J.H., Egly J.M. Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder. Nature Genetics 2000, 26:307-313.
-
(2000)
Nature Genetics
, vol.26
, pp. 307-313
-
-
Vermeulen, W.1
Bergmann, E.2
Auriol, J.3
Rademakers, S.4
Frit, P.5
Appeldoorn, E.6
Hoeijmakers, J.H.7
Egly, J.M.8
-
153
-
-
0027360041
-
Xeroderma pigmentosum complementation group G associated with Cockayne syndrome
-
Vermeulen W., Jaeken J., Jaspers N.G., Bootsma D., Hoeijmakers J.H. Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. American Journal of Human Genetics 1993, 53:185-192.
-
(1993)
American Journal of Human Genetics
, vol.53
, pp. 185-192
-
-
Vermeulen, W.1
Jaeken, J.2
Jaspers, N.G.3
Bootsma, D.4
Hoeijmakers, J.H.5
-
154
-
-
0035093786
-
A temperature-sensitive disorder in basal transcription and DNA repair in humans
-
Vermeulen W., Rademakers S., Jaspers N.G., Appeldoorn E., Raams A., Klein B., Kleijer W.J., Hansen L.K., Hoeijmakers J.H. A temperature-sensitive disorder in basal transcription and DNA repair in humans. Nature Genetics 2001, 27:299-303.
-
(2001)
Nature Genetics
, vol.27
, pp. 299-303
-
-
Vermeulen, W.1
Rademakers, S.2
Jaspers, N.G.3
Appeldoorn, E.4
Raams, A.5
Klein, B.6
Kleijer, W.J.7
Hansen, L.K.8
Hoeijmakers, J.H.9
-
155
-
-
0028085120
-
Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3
-
Vermeulen W., Scott R.J., Rodgers S., Muller H.J., Cole J., Arlett C.F., Kleijer W.J., Bootsma D., Hoeijmakers J.H., Weeda G. Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. American Journal of Human Genetics 1994, 54:191-200.
-
(1994)
American Journal of Human Genetics
, vol.54
, pp. 191-200
-
-
Vermeulen, W.1
Scott, R.J.2
Rodgers, S.3
Muller, H.J.4
Cole, J.5
Arlett, C.F.6
Kleijer, W.J.7
Bootsma, D.8
Hoeijmakers, J.H.9
Weeda, G.10
-
156
-
-
12644266319
-
Disruption of mouse ERCC1 results in a novel repair syndrome with growth failure, nuclear abnormalities and senescence
-
Weeda G., Donker I., de Wit J., Morreau H., Janssens R., Vissers C.J., Nigg A., van Steeg H., Bootsma D., Hoeijmakers J.H. Disruption of mouse ERCC1 results in a novel repair syndrome with growth failure, nuclear abnormalities and senescence. Current Biology 1997, 7:427-439.
-
(1997)
Current Biology
, vol.7
, pp. 427-439
-
-
Weeda, G.1
Donker, I.2
de Wit, J.3
Morreau, H.4
Janssens, R.5
Vissers, C.J.6
Nigg, A.7
van Steeg, H.8
Bootsma, D.9
Hoeijmakers, J.H.10
-
157
-
-
0025158110
-
A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome
-
Weeda G., van Ham R.C., Vermeulen W., Bootsma D., van der Eb A.J., Hoeijmakers J.H. A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome. Cell 1990, 62:777-791.
-
(1990)
Cell
, vol.62
, pp. 777-791
-
-
Weeda, G.1
van Ham, R.C.2
Vermeulen, W.3
Bootsma, D.4
van der Eb, A.J.5
Hoeijmakers, J.H.6
-
158
-
-
84878013694
-
What role (if any) does the highly conserved CSB-PGBD3 fusion protein play in Cockayne syndrome?
-
Weiner A.M., Gray L.T. What role (if any) does the highly conserved CSB-PGBD3 fusion protein play in Cockayne syndrome?. Mechanisms of Ageing and Development 2013, 134:225-233.
-
(2013)
Mechanisms of Ageing and Development
, vol.134
, pp. 225-233
-
-
Weiner, A.M.1
Gray, L.T.2
-
159
-
-
27544480902
-
Accelerated aging pathology in ad libitum fed Xpd(TTD) mice is accompanied by features suggestive of caloric restriction
-
Wijnhoven S.W., Beems R.B., Roodbergen M., van den Berg J., Lohman P.H., Diderich K., van der Horst G.T., Vijg J., Hoeijmakers J.H., van Steeg H. Accelerated aging pathology in ad libitum fed Xpd(TTD) mice is accompanied by features suggestive of caloric restriction. DNA Repair (Amst) 2005, 4:1314-1324.
-
(2005)
DNA Repair (Amst)
, vol.4
, pp. 1314-1324
-
-
Wijnhoven, S.W.1
Beems, R.B.2
Roodbergen, M.3
van den Berg, J.4
Lohman, P.H.5
Diderich, K.6
van der Horst, G.T.7
Vijg, J.8
Hoeijmakers, J.H.9
van Steeg, H.10
-
160
-
-
33845417285
-
Tissue specific mutagenic and carcinogenic responses in NER defective mouse models
-
Wijnhoven S.W., Hoogervorst E.M., de Waard H., van der Horst G.T., van Steeg H. Tissue specific mutagenic and carcinogenic responses in NER defective mouse models. Mutation Research 2007, 614:77-94.
-
(2007)
Mutation Research
, vol.614
, pp. 77-94
-
-
Wijnhoven, S.W.1
Hoogervorst, E.M.2
de Waard, H.3
van der Horst, G.T.4
van Steeg, H.5
-
161
-
-
84860336243
-
Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair
-
Zhang X., Horibata K., Saijo M., Ishigami C., Ukai A., Kanno S.I., Tahara H., Neilan E.G., Honma M., Nohmi T., Yasui A., Tanaka K. Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair. Nature Genetics 2012, 44:593-597.
-
(2012)
Nature Genetics
, vol.44
, pp. 593-597
-
-
Zhang, X.1
Horibata, K.2
Saijo, M.3
Ishigami, C.4
Ukai, A.5
Kanno, S.I.6
Tahara, H.7
Neilan, E.G.8
Honma, M.9
Nohmi, T.10
Yasui, A.11
Tanaka, K.12
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