-
1
-
-
0026508774
-
Cockayne syndrome: Review of 140 cases
-
Nance MA, Berry SA (1992) Cockayne syndrome: Review of 140 cases. Am J Med Genet 42:68-84.
-
(1992)
Am J Med Genet
, vol.42
, pp. 68-84
-
-
Nance, M.A.1
Berry, S.A.2
-
2
-
-
69949098944
-
Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration
-
Weidenheim KM, Dickson DW, Rapin I (2009) Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration. Mech Ageing Dev 130:619-636.
-
(2009)
Mech Ageing Dev
, vol.130
, pp. 619-636
-
-
Weidenheim, K.M.1
Dickson, D.W.2
Rapin, I.3
-
3
-
-
70350065725
-
Disorders of nucleotide excision repair: The genetic and molecular basis of heterogeneity
-
Cleaver JE, Lam ET, Revet I (2009) Disorders of nucleotide excision repair: The genetic and molecular basis of heterogeneity. Nat Rev Genet 10:756-768.
-
(2009)
Nat Rev Genet
, vol.10
, pp. 756-768
-
-
Cleaver, J.E.1
Lam, E.T.2
Revet, I.3
-
4
-
-
43849107357
-
Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage?
-
Brooks PJ, Cheng T-F, Cooper L (2008) Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage? DNA Repair (Amst) 7:834-848.
-
(2008)
DNA Repair (Amst)
, vol.7
, pp. 834-848
-
-
Brooks, P.J.1
Cheng, T.-F.2
Cooper, L.3
-
5
-
-
33846613301
-
Increased apoptosis, p53 up-regulation, and cerebellar neuronal degeneration in repair-deficient Cockayne syndrome mice
-
DOI 10.1073/pnas.0610619104
-
Laposa RR, Huang EJ, Cleaver JE (2007) Increased apoptosis, p53 up-regulation, and cerebellar neuronal degeneration in repair-deficient Cockayne syndrome mice. Proc Natl Acad Sci USA 104:1389-1394. (Pubitemid 46184014)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.4
, pp. 1389-1394
-
-
Laposa, R.R.1
Huang, E.J.2
Cleaver, J.E.3
-
6
-
-
11144242851
-
Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome
-
DOI 10.1016/j.braindev.2004.04.001, PII S0387760404000853
-
Hayashi M, Araki S, Kohyama J, Shioda K, Fukatsu R (2005) Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome. Brain Dev 27:34-38. (Pubitemid 40051302)
-
(2005)
Brain and Development
, vol.27
, Issue.1
, pp. 34-38
-
-
Hayashi, M.1
Araki, S.2
Kohyama, J.3
Shioda, K.4
Fukatsu, R.5
-
7
-
-
58149144732
-
Accumulation of (5′S)-8,5′-cyclo-2′-deoxyadenosine in organs of Cockayne syndrome complementation group B gene knockout mice
-
Kirkali G, de Souza-Pinto NC, Jaruga P, Bohr VA, Dizdaroglu M (2009) Accumulation of (5′S)-8,5′-cyclo-2′-deoxyadenosine in organs of Cockayne syndrome complementation group B gene knockout mice. DNA Repair (Amst) 8: 274-278.
-
(2009)
DNA Repair (Amst)
, vol.8
, pp. 274-278
-
-
Kirkali, G.1
De Souza-Pinto, N.C.2
Jaruga, P.3
Bohr, V.A.4
Dizdaroglu, M.5
-
8
-
-
0035902108
-
Genome maintenance mechanisms for preventing cancer
-
Hoeijmakers JH (2001) Genome maintenance mechanisms for preventing cancer. Nature 411:366-374.
-
(2001)
Nature
, vol.411
, pp. 366-374
-
-
Hoeijmakers, J.H.1
-
9
-
-
75749150810
-
Direct restart of a replication fork stalled by a head-on RNA polymerase
-
Pomerantz RT, O'Donnell M (2010) Direct restart of a replication fork stalled by a head-on RNA polymerase. Science 327:590-592.
-
(2010)
Science
, vol.327
, pp. 590-592
-
-
Pomerantz, R.T.1
O'Donnell, M.2
-
10
-
-
0018611921
-
Abnormal kinetics of DNA synthesis in ultraviolet light-irradiated cells from patients with Cockayne's syndrome
-
Lehmann AR, Kirk-Bell S, Mayne L (1979) Abnormal kinetics of DNA synthesis in ultraviolet light-irradiated cells from patients with Cockayne's syndrome. Cancer Res 39:4237-4241. (Pubitemid 10189163)
-
(1979)
Cancer Research
, vol.39
, Issue.10
, pp. 4237-4241
-
-
Lehmann, A.R.1
Kirk-Bell, S.2
Mayne, L.3
-
11
-
-
0019857509
-
A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation
-
Fujiwara Y, Ichihashi M, Kano Y, Goto K, Shimizu K (1981) A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation. J Invest Dermatol 77:256-263. (Pubitemid 12233935)
-
(1981)
Journal of Investigative Dermatology
, vol.77
, Issue.3
, pp. 256-263
-
-
Fujiwara, Y.1
Ichihashi, M.2
Kano, Y.3
-
12
-
-
0028988703
-
UVs syndrome, a new general category of photosensitive disorder with defective DNA repair, is distinct from xeroderma pigmentosum variant and rodent complementation group I
-
Itoh T, Fujiwara Y, Ono T, Yamaizumi M (1995) UVs syndrome, a new general category of photosensitive disorder with defective DNA repair, is distinct from xeroderma pigmentosum variant and rodent complementation group I. Am J Hum Genet 56: 1267-1276.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1267-1276
-
-
Itoh, T.1
Fujiwara, Y.2
Ono, T.3
Yamaizumi, M.4
-
13
-
-
51849110284
-
COFS syndrome: Three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation
-
Laugel V, et al. (2008) COFS syndrome: Three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. J Med Genet 45:564-571.
-
(2008)
J Med Genet
, vol.45
, pp. 564-571
-
-
Laugel, V.1
-
14
-
-
29244483920
-
Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts
-
DOI 10.1016/j.dnarep.2005.06.017, PII S1568786405001953
-
Spivak G, Hanawalt PC (2006) Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts. DNA Repair (Amst) 5:13-22. (Pubitemid 41832507)
-
(2006)
DNA Repair
, vol.5
, Issue.1
, pp. 13-22
-
-
Spivak, G.1
Hanawalt, P.C.2
-
15
-
-
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, et al. (2009) A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. Proc Natl Acad Sci USA 106:6209-6214.
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 6209-6214
-
-
Nardo, T.1
-
16
-
-
33846923284
-
Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for cockayne syndrome
-
DOI 10.1128/MCB.01037-06
-
Gorgels TG, et al. (2007) Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome. Mol Cell Biol 27:1433-1441. (Pubitemid 46239824)
-
(2007)
Molecular and Cellular Biology
, vol.27
, Issue.4
, pp. 1433-1441
-
-
Gorgels, T.G.M.F.1
Van Der, P.I.2
Brandt, R.M.C.3
Garinis, G.A.4
Van Steeg, H.5
Van Den, A.G.6
Jansen, G.H.7
Ruijter, J.M.8
Bergen, A.A.B.9
Van Norren, D.10
Hoeijmakers, J.H.J.11
Van Der, H.G.T.J.12
-
17
-
-
4444332513
-
Different effects of CSA and CSB deficiency on sensitivity to oxidative DNA damage
-
de Waard H, et al. (2004) Different effects of CSA and CSB deficiency on sensitivity to oxidative DNA damage. Mol Cell Biol 24:7941-7948.
-
(2004)
Mol Cell Biol
, vol.24
, pp. 7941-7948
-
-
De Waard, H.1
-
18
-
-
0346101496
-
Cockayne Syndrome Group B Cellular and Biochemical Functions
-
DOI 10.1086/380399
-
Licht CL, Stevnsner T, Bohr VA (2003) Cockayne syndrome group B cellular and biochemical functions. Am J Hum Genet 73:1217-1239. (Pubitemid 38037417)
-
(2003)
American Journal of Human Genetics
, vol.73
, Issue.6
, pp. 1217-1239
-
-
Licht, C.L.1
Stevnsner, T.2
Bohr, V.A.3
-
19
-
-
33747194740
-
Cockayne Syndrome A and B Proteins Differentially Regulate Recruitment of Chromatin Remodeling and Repair Factors to Stalled RNA Polymerase II In Vivo
-
DOI 10.1016/j.molcel.2006.06.029, PII S1097276506004655
-
Fousteri M, Vermeulen W, van Zeeland AA, Mullenders LH (2006) Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo. Mol Cell 23:471-482. (Pubitemid 44226450)
-
(2006)
Molecular Cell
, vol.23
, Issue.4
, pp. 471-482
-
-
Fousteri, M.1
Vermeulen, W.2
Van Zeeland, A.A.3
Mullenders, L.H.F.4
-
20
-
-
0037509859
-
The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage
-
DOI 10.1016/S0092-8674(03)00316-7
-
Groisman R, et al. (2003) The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage. Cell 113:357-367. (Pubitemid 36556117)
-
(2003)
Cell
, vol.113
, Issue.3
, pp. 357-367
-
-
Groisman, R.1
Polanowska, J.2
Kuraoka, I.3
Sawada, J.-I.4
Saijo, M.5
Drapkin, R.6
Kisselev, A.F.7
Tanaka, K.8
Nakatani, Y.9
-
21
-
-
0037326318
-
Rescue of arrested RNA polymerase II complexes
-
Svejstrup JQ (2003) Rescue of arrested RNA polymerase II complexes. J Cell Sci 116: 447-451.
-
(2003)
J Cell Sci
, vol.116
, pp. 447-451
-
-
Svejstrup, J.Q.1
-
22
-
-
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, et al. (2010) Proteins of nucleotide and base excision repair pathways interact in mitochondria to protect from loss of subcutaneous fat, a hallmark of aging. J Exp Med 207:379-390.
-
(2010)
J Exp Med
, vol.207
, pp. 379-390
-
-
Kamenisch, Y.1
-
23
-
-
53549085960
-
CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response
-
Filippi S, et al. (2008) CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response. EMBO J 27:2545-2556.
-
(2008)
EMBO J
, vol.27
, pp. 2545-2556
-
-
Filippi, S.1
-
24
-
-
34347352111
-
The role of CSA in the response to oxidative DNA damage in human cells
-
DOI 10.1038/sj.onc.1210232, PII 1210232
-
D'Errico M, et al. (2007) The role of CSA in the response to oxidative DNA damage in human cells. Oncogene 26:4336-4343. (Pubitemid 47014469)
-
(2007)
Oncogene
, vol.26
, Issue.30
, 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
-
25
-
-
35748976209
-
p53 suppression overwhelms DNA polymerase eta deficiency in determining the cellular UV DNA damage response
-
DOI 10.1016/j.dnarep.2007.07.005, PII S1568786407002534
-
Laposa RR, Feeney L, Crowley E, de Feraudy S, Cleaver JE (2007) p53 suppression overwhelms DNA polymerase eta deficiency in determining the cellular UV DNA damage response. DNA Repair (Amst) 6:1794-1804. (Pubitemid 350052730)
-
(2007)
DNA Repair
, vol.6
, Issue.12
, pp. 1794-1804
-
-
Laposa, R.R.1
Feeney, L.2
Crowley, E.3
De Feraudy, S.4
Cleaver, J.E.5
-
26
-
-
7044237034
-
Divide and die: Cell cycle events as triggers of nerve cell death
-
DOI 10.1523/JNEUROSCI.3347-04.2004
-
Herrup K, Neve R, Ackerman SL, Copani A (2004) Divide and die: Cell cycle events as triggers of nerve cell death. J Neurosci 24:9232-9239. (Pubitemid 39426158)
-
(2004)
Journal of Neuroscience
, vol.24
, Issue.42
, pp. 9232-9239
-
-
Herrup, K.1
Neve, R.2
Ackerman, S.L.3
Copani, A.4
-
27
-
-
79960341941
-
Premature aging and cancer in nucleotide excision repair-disorders
-
Diderich K, Alanazi M, Hoeijmakers JH (2011) Premature aging and cancer in nucleotide excision repair-disorders. DNA Repair (Amst) 10:772-780.
-
(2011)
DNA Repair (Amst)
, vol.10
, pp. 772-780
-
-
Diderich, K.1
Alanazi, M.2
Hoeijmakers, J.H.3
-
28
-
-
0037468273
-
The transcriptional response after oxidative stress is defective in Cockayne syndrome group B cells
-
DOI 10.1038/sj.onc.1206187
-
Kyng KJ, et al. (2003) The transcriptional response after oxidative stress is defective in Cockayne syndrome group B cells. Oncogene 22:1135-1149. (Pubitemid 36367204)
-
(2003)
Oncogene
, vol.22
, Issue.8
, pp. 1135-1149
-
-
Kyng, K.J.1
May, A.2
Brosh Jr., R.M.3
Cheng, W.-H.4
Chen, C.5
Becker, K.G.6
Bohr, V.A.7
-
29
-
-
0035818496
-
Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum group A and Cockayne syndrome group B DNA repair genes
-
DOI 10.1073/pnas.231329598
-
Murai M, et al. (2001) Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes. Proc Natl Acad Sci USA 98:13379-13384. (Pubitemid 33051371)
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, Issue.23
, pp. 13379-13384
-
-
Murai, M.1
Enokido, Y.2
Inamura, N.3
Yoshino, M.4
Nakatsu, Y.5
Van Der, H.G.T.J.6
Hoeijmakers, J.H.J.7
Tanaka, K.8
Hatanaka, H.9
-
30
-
-
33845417285
-
Tissue specific mutagenic and carcinogenic responses in NER defective mouse models
-
DOI 10.1016/j.mrfmmm.2005.12.018, PII S0027510706001369
-
Wijnhoven SW, Hoogervorst EM, de Waard H, van der Horst GT, van Steeg H (2007) Tissue specific mutagenic and carcinogenic responses in NER defective mouse models. Mutat Res 614:77-94. (Pubitemid 44909211)
-
(2007)
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
, vol.614
, Issue.1-2
, pp. 77-94
-
-
Wijnhoven, S.W.P.1
Hoogervorst, E.M.2
De Waard, H.3
Van Der Horst, G.T.J.4
Van Steeg, H.5
-
31
-
-
16044373842
-
Exon I of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
-
DOI 10.1016/S0092-8674(00)81369-0
-
Mangiarini L, et al. (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. (Pubitemid 26374323)
-
(1996)
Cell
, vol.87
, Issue.3
, 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
-
32
-
-
37549033922
-
A neurological phenotype in mice with DNA repair gene Ercc1 deficiency
-
Lawrence NJ, Sacco JJ, Brownstein DG, Gillingwater TH, Melton DW (2008) A neurological phenotype in mice with DNA repair gene Ercc1 deficiency. DNA Repair (Amst) 7:281-291.
-
(2008)
DNA Repair (Amst)
, vol.7
, pp. 281-291
-
-
Lawrence, N.J.1
Sacco, J.J.2
Brownstein, D.G.3
Gillingwater, T.H.4
Melton, D.W.5
-
33
-
-
33746973285
-
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria
-
DOI 10.1016/j.ccr.2006.05.027, PII S1535610806001851
-
Andressoo J-O, et al. (2006) An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria. Cancer Cell 10:121-132. (Pubitemid 44202602)
-
(2006)
Cancer Cell
, vol.10
, Issue.2
, 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.J.12
Raams, A.13
Lehmann, A.R.14
Vermeulen, W.15
Hoeijmakers, J.H.J.16
Van Der Horst, G.T.J.17
-
34
-
-
34247169028
-
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype-phenotype relationship
-
DOI 10.1016/j.neuroscience.2006.12.020, PII S0306452206016885, Genome Dynamics and DNA Repair in the CNS
-
Kraemer KH, et al. (2007) Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype-phenotype relationship. Neuroscience 145: 1388-1396. (Pubitemid 46602743)
-
(2007)
Neuroscience
, vol.145
, Issue.4
, 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
-
35
-
-
0035093786
-
A temperature-sensitive disorder in basal transcription and DNA repair in humans
-
DOI 10.1038/85864
-
Vermeulen W, et al. (2001) A temperature-sensitive disorder in basal transcription and DNA repair in humans. Nat Genet 27:299-303. (Pubitemid 32201851)
-
(2001)
Nature Genetics
, vol.27
, Issue.3
, pp. 299-303
-
-
Vermeulen, W.1
Rademakers, S.2
Jaspers, N.G.J.3
Appeldoorn, E.4
Raams, A.5
Klein, B.6
Kleijer, W.J.7
Kjaersgard, H.L.8
Hoeijmakers, J.H.J.9
-
36
-
-
33748763831
-
Structural and molecular hair abnormalities in trichothiodystrophy
-
DOI 10.1038/sj.jid.5700384, PII 5700384
-
Liang C, et al. (2006) Structural and molecular hair abnormalities in trichothiodystrophy. J Invest Dermatol 126:2210-2216. (Pubitemid 44413167)
-
(2006)
Journal of Investigative Dermatology
, vol.126
, Issue.10
, pp. 2210-2216
-
-
Liang, C.1
Morris, A.2
Schlucker, S.3
Imoto, K.4
Price, V.H.5
Menefee, E.6
Wincovitch, S.M.7
Levin, I.W.8
Tamura, D.9
Strehle, K.R.10
Kraemer, K.H.11
DiGiovanna, J.J.12
-
37
-
-
35549000640
-
Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH
-
DOI 10.1038/nn1990, PII NN1990
-
Compe E, et al. (2007) Hypomyelination in trichothiodystrophy reveals the coactivator function of TFIIH. Nat Neurosci 10:1414-1422. (Pubitemid 350014680)
-
(2007)
Nature Neuroscience
, vol.10
, Issue.11
, pp. 1414-1422
-
-
Compe, E.1
Malerba, M.2
Soler, L.3
Marescaux, J.4
Borrelli, E.5
Egly, J.-M.6
-
38
-
-
33646176653
-
Targeting of p300/CREB binding protein coactivators by simian virus 40 is mediated through p53
-
Borger DR, DeCaprio JA (2006) Targeting of p300/CREB binding protein coactivators by simian virus 40 is mediated through p53. J Virol 80:4292-4303.
-
(2006)
J Virol
, vol.80
, pp. 4292-4303
-
-
Borger, D.R.1
DeCaprio, J.A.2
-
39
-
-
23844558266
-
A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: A dawn for evolutionary medicine
-
Wallace DC (2005) A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: A dawn for evolutionary medicine. Annu Rev Genet 39:359-407.
-
(2005)
Annu Rev Genet
, vol.39
, pp. 359-407
-
-
Wallace, D.C.1
-
40
-
-
79957705193
-
Functional relevance of the histone gammaH2Ax in the response to DNA damaging agents
-
Revet I, et al. (2011) Functional relevance of the histone gammaH2Ax in the response to DNA damaging agents. Proc Natl Acad Sci USA 108:8663-8667.
-
(2011)
Proc Natl Acad Sci USA
, vol.108
, pp. 8663-8667
-
-
Revet, I.1
-
41
-
-
0031891880
-
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with cockayne syndrome
-
DOI 10.1086/301686
-
Mallery DL, et al. (1998) Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. Am J Hum Genet 62:77-85. (Pubitemid 28093837)
-
(1998)
American Journal of Human Genetics
, vol.62
, Issue.1
, pp. 77-85
-
-
Mallery, D.L.1
Tanganelli, B.2
Colella, S.3
Steingrimsdottir, H.4
Van Gool, A.J.5
Troelstra, C.6
Stefanini, M.7
Lehmann, A.R.8
-
42
-
-
33846030099
-
Impaired genome maintenance suppresses the growth hormone - Insulin-like growth factor 1 axis in mice with Cockayne syndrome
-
van der Pluijm I, et al. (2007) Impaired genome maintenance suppresses the growth hormone - insulin-like growth factor 1 axis in mice with Cockayne syndrome. PLoS Biol 5:e2.
-
(2007)
PLoS Biol
, vol.5
-
-
Van Der Pluijm, I.1
-
43
-
-
39749184830
-
Deletion of 5′ sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome
-
DOI 10.1038/sj.ejhg.5201991, PII 5201991
-
Laugel V, et al. (2008) Deletion of 5′ sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome. Eur J Hum Genet 16:320-327. (Pubitemid 351292231)
-
(2008)
European Journal of Human Genetics
, vol.16
, Issue.3
, pp. 320-327
-
-
Laugel, V.1
Dalloz, C.2
Stary, A.3
Cormier-Daire, V.4
Desguerre, I.5
Renouil, M.6
Fourmaintraux, A.7
Velez-Cruz, R.8
Egly, J.-M.9
Sarasin, A.10
Dollfus, H.11
-
44
-
-
0034192532
-
Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum
-
Colella S, Nardo T, Botta E, Lehmann AR, Stefanini M (2000) Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum. Hum Mol Genet 9:1171-1175. (Pubitemid 30248602)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.8
, pp. 1171-1175
-
-
Colella, S.1
Nardo, T.2
Botta, E.3
Lehmann, A.R.4
Stefanini, M.5
-
45
-
-
7444226812
-
Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome
-
DOI 10.1073/pnas.0404587101
-
Horibata K, et al. (2004) Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. Proc Natl Acad Sci USA 101:15410-15415. (Pubitemid 39441555)
-
(2004)
Proceedings of the National Academy of Sciences of the United States of America
, vol.101
, Issue.43
, pp. 15410-15415
-
-
Horibata, K.1
Iwamoto, Y.2
Kuraoka, I.3
Jaspers, N.G.J.4
Kurimasa, A.5
Oshimura, M.6
Ichihashi, M.7
Tanaka, K.8
-
46
-
-
35348979671
-
ATM, the Mre11/Rad50/Nbs1 complex, and topoisomerase I are concentrated in the nucleus of Purkinje neurons in the juvenile human brain
-
DOI 10.1016/j.dnarep.2007.06.011, PII S1568786407002212
-
Gorodetsky E, Calkins S, Ahn J, Brooks PJ (2007) ATM, the Mre11/Rad50/Nbs1 complex, and topoisomerase I are concentrated in the nucleus of Purkinje neurons in the juvenile human brain. DNA Repair (Amst) 6:1698-1707. (Pubitemid 47600113)
-
(2007)
DNA Repair
, vol.6
, Issue.11
, pp. 1698-1707
-
-
Gorodetsky, E.1
Calkins, S.2
Ahn, J.3
Brooks, P.J.4
-
47
-
-
34247256517
-
XPG Stabilizes TFIIH, Allowing Transactivation of Nuclear Receptors: Implications for Cockayne Syndrome in XP-G/CS Patients
-
DOI 10.1016/j.molcel.2007.03.013, PII S1097276507001761
-
Ito S, et al. (2007) XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: Implications for Cockayne syndrome in XP-G/CS patients. Mol Cell 26:231-243. (Pubitemid 46656219)
-
(2007)
Molecular Cell
, vol.26
, Issue.2
, 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
-
48
-
-
84855288980
-
Age-related neuronal degeneration: Complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology
-
Jaarsma D, et al. (2011) Age-related neuronal degeneration: Complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology. PLoS Genet 7:e1002405.
-
(2011)
PLoS Genet
, vol.7
-
-
Jaarsma, D.1
-
50
-
-
0029785723
-
Blockage of RNA polymerase as a possible trigger for u.v. light-induced apoptosis
-
Ljungman M, Zhang F (1996) Blockage of RNA polymerase as a possible trigger for u.v. light-induced apoptosis. Oncogene 13:823-831. (Pubitemid 26312910)
-
(1996)
Oncogene
, vol.13
, Issue.4
, pp. 823-831
-
-
Ljungman, M.1
Zhang, F.2
-
51
-
-
0037187830
-
Transcription coupled repair efficiency determines the cell cycle progression and apoptosis after UV exposure in hamster cells
-
Proietti De Santis L, et al. (2002) Transcription coupled repair efficiency determines the cell cycle progression and apoptosis after UV exposure in hamster cells. DNA Repair (Amst) 1:209-223.
-
(2002)
DNA Repair (Amst)
, vol.1
, pp. 209-223
-
-
Proietti De Santis, L.1
-
52
-
-
0030916337
-
Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition
-
van der Horst GT, et al. (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
-
53
-
-
0028978672
-
High susceptibility to ultraviolet- induced carcinogenesis in mice lacking XPC
-
Sands AT, Abuin A, Sanchez A, Conti CJ, Bradley A (1995) High susceptibility to ultraviolet- induced carcinogenesis in mice lacking XPC. Nature 377:162-165.
-
(1995)
Nature
, vol.377
, pp. 162-165
-
-
Sands, A.T.1
Abuin, A.2
Sanchez, A.3
Conti, C.J.4
Bradley, A.5
|