-
1
-
-
0035374836
-
Centrosome protein centrin 2/caltractin 1 is part of the xeroderma pigmentosum group C complex that initiates global genome nucleotide excision repair
-
11279143 10.1074/jbc.M100855200 1:CAS:528:DC%2BD3MXkt12ktrg%3D
-
Araki M, Masutani C, Takemura M, Uchida A, Sugasawa K et al (2001) Centrosome protein centrin 2/caltractin 1 is part of the xeroderma pigmentosum group C complex that initiates global genome nucleotide excision repair. J Biol Chem 276:18665-18672
-
(2001)
J Biol Chem
, vol.276
, pp. 18665-18672
-
-
Araki, M.1
Masutani, C.2
Takemura, M.3
Uchida, A.4
Sugasawa, K.5
-
2
-
-
68449099291
-
High frequency of the V548A fs X572 XPC mutation in Tunisia: Implication for molecular diagnosis
-
19478817 10.1038/jhg.2009.50 1:CAS:528:DC%2BD1MXhtV2hsLrN
-
Ben Rekaya M, Messaoud O, Talmoudi F, Nouira S, Ouragini H et al (2009) High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis. J Hum Genet 54:426-429
-
(2009)
J Hum Genet
, vol.54
, pp. 426-429
-
-
Ben Rekaya, M.1
Messaoud, O.2
Talmoudi, F.3
Nouira, S.4
Ouragini, H.5
-
3
-
-
0003095801
-
Nucleotide excision repair syndromes: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy
-
B. Vogelstein K.W. Kinzler (eds) McGraw-Hill New York
-
Bootsma D, Kraemer KH, Cleaver JE, Hoeijmakers JHJ (1998) Nucleotide excision repair syndromes: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. In: Vogelstein B, Kinzler KW (eds) The genetic basis of human cancer. McGraw-Hill, New York, pp 245-274
-
(1998)
The Genetic Basis of Human Cancer
, pp. 245-274
-
-
Bootsma, D.1
Kraemer, K.H.2
Cleaver, J.E.3
Hoeijmakers, J.H.J.4
-
4
-
-
0003095801
-
Hoeijmakers nucleotide excision repair syndromes: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
-
W. Sly D. Valle A.B. Scriver (eds) McGraw-Hill Book Co New York
-
Bootsma D, Kraemer KH, Cleaver JJ (2001) Hoeijmakers nucleotide excision repair syndromes: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. In: Sly W, Valle D, Scriver AB (eds) The metabolic basis of inherited disease. McGraw-Hill Book Co, New York, pp 245-274
-
(2001)
The Metabolic Basis of Inherited Disease
, pp. 245-274
-
-
Bootsma, D.1
Kraemer, K.H.2
Cleaver, J.J.3
-
5
-
-
33845575990
-
Biochemical and structural domain analysis of xeroderma pigmentosum complementation group C protein
-
17154534 10.1021/bi061370o 1:CAS:528:DC%2BD28Xht1Clu7%2FL
-
Bunick CG, Miller MR, Fuller BE, Fanning E, Chazin WJ (2006) Biochemical and structural domain analysis of xeroderma pigmentosum complementation group C protein. Biochemistry 45:14965-14979
-
(2006)
Biochemistry
, vol.45
, pp. 14965-14979
-
-
Bunick, C.G.1
Miller, M.R.2
Fuller, B.E.3
Fanning, E.4
Chazin, W.J.5
-
6
-
-
0034027382
-
Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels
-
10766188 1:CAS:528:DC%2BD3cXisVymsr4%3D
-
Chavanne F, Broughton BC, Pietra D, Nardo T, Browitt A et al (2000) Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels. Cancer Res 60:1974-1982
-
(2000)
Cancer Res
, vol.60
, pp. 1974-1982
-
-
Chavanne, F.1
Broughton, B.C.2
Pietra, D.3
Nardo, T.4
Browitt, A.5
-
7
-
-
0023102949
-
An immortalized xeroderma pigmentosum, group C, cell line which replicates SV40 shuttle vectors
-
3029584 10.1016/0167-8817(87)90061-7 1:STN:280:DyaL2s7ksVertQ%3D%3D
-
Daya-Grosjean L, James MR, Drougard C, Sarasin A (1987) An immortalized xeroderma pigmentosum, group C, cell line which replicates SV40 shuttle vectors. Mutat Res 183:185-196
-
(1987)
Mutat Res
, vol.183
, pp. 185-196
-
-
Daya-Grosjean, L.1
James, M.R.2
Drougard, C.3
Sarasin, A.4
-
8
-
-
0035319979
-
Melanoma in xeroderma pigmentosum: 12 cases
-
11395647 1:STN:280:DC%2BD3MzpvVWrsw%3D%3D
-
Fazaa B, Zghal M, Bailly C, Zeglaoui F, Goucha S et al (2001) Melanoma in xeroderma pigmentosum: 12 cases. Ann Dermatol Venereol 128:503-506
-
(2001)
Ann Dermatol Venereol
, vol.128
, pp. 503-506
-
-
Fazaa, B.1
Zghal, M.2
Bailly, C.3
Zeglaoui, F.4
Goucha, S.5
-
9
-
-
0037115936
-
Subpathways of nucleotide excision repair and their regulation
-
12483511 10.1038/sj.onc.1206096 1:CAS:528:DC%2BD38XpsFSgsrw%3D
-
Hanawalt PC (2002) Subpathways of nucleotide excision repair and their regulation. Oncogene 21:8949-8956
-
(2002)
Oncogene
, vol.21
, pp. 8949-8956
-
-
Hanawalt, P.C.1
-
10
-
-
33749527519
-
Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1 % of the Japanese population
-
16905156 10.1016/j.mrfmmm.2006.06.010 1:CAS:528:DC%2BD28XhtVyktL%2FM
-
Hirai Y, Kodama Y, Moriwaki S, Noda A, Cullings HM et al (2006) Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1 % of the Japanese population. Mutat Res 601:171-178
-
(2006)
Mutat Res
, vol.601
, pp. 171-178
-
-
Hirai, Y.1
Kodama, Y.2
Moriwaki, S.3
Noda, A.4
Cullings, H.M.5
-
11
-
-
29744457502
-
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients
-
16081512 10.1093/carcin/bgi204 1:CAS:528:DC%2BD2MXhtlCmsbbN
-
Khan SG, Oh KS, Shahlavi T, Ueda T, Busch DB et al (2006) Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. Carcinogenesis 27:84-94
-
(2006)
Carcinogenesis
, vol.27
, pp. 84-94
-
-
Khan, S.G.1
Oh, K.S.2
Shahlavi, T.3
Ueda, T.4
Busch, D.B.5
-
12
-
-
0032811593
-
Xeroderma pigmentosum in Libya
-
10440281 10.1046/j.1365-4362.1999.00751.x 1:STN:280:DyaK1Mzms1yqsQ%3D%3D
-
Khatri ML, Bemghazil M, Shafi M, Machina A (1999) Xeroderma pigmentosum in Libya. Int J Dermatol 38:520-524
-
(1999)
Int J Dermatol
, vol.38
, pp. 520-524
-
-
Khatri, M.L.1
Bemghazil, M.2
Shafi, M.3
MacHina, A.4
-
13
-
-
0023130695
-
Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases
-
3545087 10.1001/archderm.1987.01660260111026 1:STN:280: DyaL2s7is12hsA%3D%3D
-
Kraemer KH, Lee MM, Scotto J (1987) Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 123:241-250
-
(1987)
Arch Dermatol
, vol.123
, pp. 241-250
-
-
Kraemer, K.H.1
Lee, M.M.2
Scotto, J.3
-
14
-
-
0942268166
-
DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
-
14726016 10.1016/j.biochi.2003.09.010 1:CAS:528:DC%2BD2cXjsVyrtA%3D%3D
-
Lehmann AR (2003) DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. Biochimie 85:1101-1111
-
(2003)
Biochimie
, vol.85
, pp. 1101-1111
-
-
Lehmann, A.R.1
-
15
-
-
0027370825
-
Characterization of molecular defects in xeroderma pigmentosum group C
-
8298653 10.1038/ng1293-413 1:CAS:528:DyaK2cXltFKmsA%3D%3D
-
Li L, Bales ES, Peterson CA, Legerski RJ (1993) Characterization of molecular defects in xeroderma pigmentosum group C. Nat Genet 5:413-417
-
(1993)
Nat Genet
, vol.5
, pp. 413-417
-
-
Li, L.1
Bales, E.S.2
Peterson, C.A.3
Legerski, R.J.4
-
16
-
-
34247381126
-
An aromatic sensor with aversion to damaged strands confers versatility to DNA repair
-
17355181 10.1371/journal.pbio.0050079
-
Maillard O, Solyom S, Naegeli H (2007) An aromatic sensor with aversion to damaged strands confers versatility to DNA repair. PLoS Biol 5:e79
-
(2007)
PLoS Biol
, vol.5
, pp. 79
-
-
Maillard, O.1
Solyom, S.2
Naegeli, H.3
-
17
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
3344216 10.1093/nar/16.3.1215 1:CAS:528:DyaL1cXhsVKlsrs%3D
-
Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
18
-
-
0035057195
-
Xeroderma pigmentosum - Bridging a gap between clinic and laboratory
-
11338401 10.1034/j.1600-0781.2001.017002047.x 1:CAS:528: DC%2BD3MXjtVOgtr4%3D
-
Moriwaki S, Kraemer KH (2001) Xeroderma pigmentosum - bridging a gap between clinic and laboratory. Photodermatol Photoimmunol Photomed 17:47-54
-
(2001)
Photodermatol Photoimmunol Photomed
, vol.17
, pp. 47-54
-
-
Moriwaki, S.1
Kraemer, K.H.2
-
19
-
-
1442276310
-
Cutaneous tumors during xeroderma pigmentosum in Morocco: Study of 120 patients
-
15041840 10.1016/S0151-9638(04)93538-7 1:STN:280:DC%2BD2c7ksl2mtw%3D%3D
-
Moussaid L, Benchikhi H, Boukind EH, Sqalli S, Mouaki N et al (2004) Cutaneous tumors during xeroderma pigmentosum in Morocco: study of 120 patients. Ann Dermatol Venereol 131:29-33
-
(2004)
Ann Dermatol Venereol
, vol.131
, pp. 29-33
-
-
Moussaid, L.1
Benchikhi, H.2
Boukind, E.H.3
Sqalli, S.4
Mouaki, N.5
-
20
-
-
40549096058
-
Catalase overexpression reduces UVB-induced apoptosis in a human xeroderma pigmentosum reconstructed epidermis
-
18202716 10.1038/sj.cgt.7701102 1:CAS:528:DC%2BD1cXjtFOiu7k%3D
-
Rezvani HR, Ged C, Bouadjar B, de Verneuil H, Taieb A (2008) Catalase overexpression reduces UVB-induced apoptosis in a human xeroderma pigmentosum reconstructed epidermis. Cancer Gene Ther 15:241-251
-
(2008)
Cancer Gene Ther
, vol.15
, pp. 241-251
-
-
Rezvani, H.R.1
Ged, C.2
Bouadjar, B.3
De Verneuil, H.4
Taieb, A.5
-
21
-
-
33845779788
-
A novel XPC pathogenic variant detected in archival material from a patient diagnosed with xeroderma pigmentosum: A case report and review of the genetic variants reported in XPC
-
10.1016/j.dnarep.2006.09.008 1:CAS:528:DC%2BD2sXhsFGltQ%3D%3D
-
Rivera-Begeman A, McDaniel LD, Schultz RA, Friedberg EC (2007) A novel XPC pathogenic variant detected in archival material from a patient diagnosed with xeroderma pigmentosum: a case report and review of the genetic variants reported in XPC. DNA Repair (Amst) 6:100-114
-
(2007)
DNA Repair (Amst)
, vol.6
, pp. 100-114
-
-
Rivera-Begeman, A.1
McDaniel, L.D.2
Schultz, R.A.3
Friedberg, E.C.4
-
22
-
-
33846054328
-
New insights for understanding the transcription-coupled repair pathway
-
10.1016/j.dnarep.2006.12.001 1:CAS:528:DC%2BD2sXltFWmtg%3D%3D
-
Sarasin A, Stary A (2007) New insights for understanding the transcription-coupled repair pathway. DNA Repair (Amst) 6:265-269
-
(2007)
DNA Repair (Amst)
, vol.6
, pp. 265-269
-
-
Sarasin, A.1
Stary, A.2
-
23
-
-
77952419183
-
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa
-
20054342 10.1038/jid.2009.409 1:CAS:528:DC%2BC3cXlvFOju74%3D
-
Soufir N, Ged C, Bourillon A, Austerlitz F, Chemin C et al (2010) A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. J Invest Dermatol 130:1537-1542
-
(2010)
J Invest Dermatol
, vol.130
, pp. 1537-1542
-
-
Soufir, N.1
Ged, C.2
Bourillon, A.3
Austerlitz, F.4
Chemin, C.5
-
24
-
-
0036256959
-
The genetics of the hereditary xeroderma pigmentosum syndrome
-
11900876 10.1016/S0300-9084(01)01358-X 1:CAS:528:DC%2BD38XitFaqsLs%3D
-
Stary A, Sarasin A (2002) The genetics of the hereditary xeroderma pigmentosum syndrome. Biochimie 84:49-60
-
(2002)
Biochimie
, vol.84
, pp. 49-60
-
-
Stary, A.1
Sarasin, A.2
-
25
-
-
0032134423
-
Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair
-
9734359 10.1016/S1097-2765(00)80132-X 1:CAS:528:DyaK1cXmtVyisrw%3D
-
Sugasawa K, Ng JM, Masutani C, Iwai S, van der Spek PJ et al (1998) xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair. Mol Cell 2:223-232
-
(1998)
Mol Cell
, vol.2
, pp. 223-232
-
-
Sugasawa, K.1
Ng, J.M.2
Masutani, C.3
Iwai, S.4
Van Der Spek, P.J.5
-
26
-
-
34249780384
-
Lessons learned from DNA repair defective syndromes
-
17518994 10.1111/j.1600-0625.2007.00559.x 1:CAS:528:DC%2BD2sXnsVSis70%3D
-
Thoms K-M, Kuschal C, Emmert S (2007) Lessons learned from DNA repair defective syndromes. Exp Dermatol 16(6):532-544
-
(2007)
Exp Dermatol
, vol.16
, Issue.6
, pp. 532-544
-
-
Thoms, K.-M.1
Kuschal, C.2
Emmert, S.3
-
27
-
-
0033082322
-
Xeroderma pigmentosum and the role of UV-induced DNA damage in skin cancer
-
10200950 10.1016/S1357-4310(98)01394-X
-
Van Steeg H, Kraemer KH (1999) xeroderma pigmentosum and the role of UV-induced DNA damage in skin cancer. Mol Med Today 5:86-94
-
(1999)
Mol Med Today
, vol.5
, pp. 86-94
-
-
Van Steeg, H.1
Kraemer, K.H.2
-
28
-
-
0025775473
-
Xeroderma pigmentosum complementation group C cells remove pyrimidine dimers selectively from the transcribed strand of active genes
-
1649389 1:CAS:528:DyaK3MXlslKgur0%3D
-
Venema J, van Hoffen A, Karcagi V, Natarajan AT, van Zeeland AA et al (1991) xeroderma pigmentosum complementation group C cells remove pyrimidine dimers selectively from the transcribed strand of active genes. Mol Cell Biol 11:4128-4134
-
(1991)
Mol Cell Biol
, vol.11
, pp. 4128-4134
-
-
Venema, J.1
Van Hoffen, A.2
Karcagi, V.3
Natarajan, A.T.4
Van Zeeland, A.A.5
-
29
-
-
30544440179
-
Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 49 Tunisian cases
-
16450945
-
Zghal M, El-Fekih N, Fazaa B, Fredj M, Zhioua R et al (2005) Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 49 Tunisian cases. Tunis Med 83:760-763
-
(2005)
Tunis Med
, vol.83
, pp. 760-763
-
-
Zghal, M.1
El-Fekih, N.2
Fazaa, B.3
Fredj, M.4
Zhioua, R.5
|