-
1
-
-
0028948394
-
Mammalian DNA nucleotide excision repair reconstituted with purified protein components
-
Aboussekhra A, Biggerstaff M, Shivji MKK, Vilpo JA, Moncollin V, Podust VN, Protic M, Hübscher U, Egly J-M, Wood RD: Mammalian DNA nucleotide excision repair reconstituted with purified protein components. Cell 80:859-868, 1995
-
(1995)
Cell
, vol.80
, pp. 859-868
-
-
Aboussekhra, A.1
Biggerstaff, M.2
Shivji, M.K.K.3
Vilpo, J.A.4
Moncollin, V.5
Podust, V.N.6
Protic, M.7
Hübscher, U.8
Egly, J.-M.9
Wood, R.D.10
-
2
-
-
0018193392
-
Cockayne's syndrome fibroblasts have increased sensitivity to ultraviolet light but normal rates of unscheduled DNA synthesis
-
Andrews AD, Barrett SF, Yoder FW, Robbins JH: Cockayne's syndrome fibroblasts have increased sensitivity to ultraviolet light but normal rates of unscheduled DNA synthesis. J Invest Dermatol 70:237-239, 1978
-
(1978)
J Invest Dermatol
, vol.70
, pp. 237-239
-
-
Andrews, A.D.1
Barrett, S.F.2
Yoder, F.W.3
Robbins, J.H.4
-
3
-
-
0019168178
-
Studies of a new case of xeroderma pigmentosum (XP3BR) from complementation group G with cellular sensitivity to ionizing radiation
-
Arlett CF, Harcourt SA, Lehmann AR, Stevens S, Ferguson-Smith WA, Morley WN: Studies of a new case of xeroderma pigmentosum (XP3BR) from complementation group G with cellular sensitivity to ionizing radiation. Carcinogenesis 1:745-751, 1980
-
(1980)
Carcinogenesis
, vol.1
, pp. 745-751
-
-
Arlett, C.F.1
Harcourt, S.A.2
Lehmann, A.R.3
Stevens, S.4
Ferguson-Smith, W.A.5
Morley, W.N.6
-
4
-
-
0025941622
-
Evidence for defective repair of cyclobutane pyrimidine dimers with normal repair of other DNA photoproducts in a transcriptionally active gene transfected into Cockayne syndrome cells
-
Barrett SF, Robbins JH, Tarone RE, Kraemer KH: Evidence for defective repair of cyclobutane pyrimidine dimers with normal repair of other DNA photoproducts in a transcriptionally active gene transfected into Cockayne syndrome cells. Mutat Res 255:281-291, 1991
-
(1991)
Mutat Res
, vol.255
, pp. 281-291
-
-
Barrett, S.F.1
Robbins, J.H.2
Tarone, R.E.3
Kraemer, K.H.4
-
5
-
-
0029654348
-
Nucleotide excision repair syndromes: Molecular basis and clinical symptoms
-
Bootsma D, Weeda G, Vermeulen W, Van Vuuren H, Troelstra C, Van der Spek P, Hoeijmakers J: Nucleotide excision repair syndromes: molecular basis and clinical symptoms. Philos Trans R Soc Lond [Biol] 347:75-81, 1995
-
(1995)
Philos Trans R Soc Lond [Biol]
, vol.347
, pp. 75-81
-
-
Bootsma, D.1
Weeda, G.2
Vermeulen, W.3
Van Vuuren, H.4
Troelstra, C.5
Van Der Spek, P.6
Hoeijmakers, J.7
-
6
-
-
0028868125
-
Molecular and cellular analysis of the DNA repair defect in a patient in seroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome
-
Broughton BC, Thompson AF, Harcourt SA, Vermeulen W, Hoeijmakers JH, Botta E, Stefanini M, King MD, Weber CA, Cole J: Molecular and cellular analysis of the DNA repair defect in a patient in seroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. Am J Hum Genet 56:167-174, 1995
-
(1995)
Am J Hum Genet
, vol.56
, pp. 167-174
-
-
Broughton, B.C.1
Thompson, A.F.2
Harcourt, S.A.3
Vermeulen, W.4
Hoeijmakers, J.H.5
Botta, E.6
Stefanini, M.7
King, M.D.8
Weber, C.A.9
Cole, J.10
-
7
-
-
0023307315
-
Rare syndromes. I. Cockayne syndrome: A review of the 129 cases so far reported in the literature
-
Cantani A, Bamonte G, Bellioni P, Tucci Bamonte M, Ceccoli D, Tacconi ML: Rare syndromes. I. Cockayne syndrome: a review of the 129 cases so far reported in the literature. Riv Eur Sci Med Farmacol 9:9-17, 1987
-
(1987)
Riv Eur Sci Med Farmacol
, vol.9
, pp. 9-17
-
-
Cantani, A.1
Bamonte, G.2
Bellioni, P.3
Tucci Bamonte, M.4
Ceccoli, D.5
Tacconi, M.L.6
-
8
-
-
0018091204
-
Xeroderma pigmentosum - A unique variant with neurological involvement
-
Cheesbrough MJ, Kinmont PDC: Xeroderma pigmentosum - a unique variant with neurological involvement. Br J Dermatol 99:61, 1978
-
(1978)
Br J Dermatol
, vol.99
, pp. 61
-
-
Cheesbrough, M.J.1
Kinmont, P.D.C.2
-
9
-
-
0001415829
-
Xerodema pigmentosum and Cockayne syndrome
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds.). McGraw-Hill, New York
-
Cleaver JE, Kraemer KH: Xerodema pigmentosum and Cockayne syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds.). The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, 1995, p 4393-4419
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 4393-4419
-
-
Cleaver, J.E.1
Kraemer, K.H.2
-
10
-
-
0026580331
-
Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: Involvement of the human ERCC2 DNA repair gene
-
Flejter WL, McDaniel LD, Johns D, Friedberg EC, Schultz RA: Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene. Proc Natl Acad Sci USA 89:261-265, 1992
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 261-265
-
-
Flejter, W.L.1
McDaniel, L.D.2
Johns, D.3
Friedberg, E.C.4
Schultz, R.A.5
-
11
-
-
0027964292
-
The human DNA repair gene, ERCC2 (XPD), corrects ultraviolet hypersensitivity and ultraviolet hypermutability of a shuttle vector replicated in xeroderma pigmentosum group D cells
-
Gözükara EM, Parris CN, Weber CA, Salazar EP, Seidman MM, Watkins JF, Prakash L, Kraemer KH: The human DNA repair gene, ERCC2 (XPD), corrects ultraviolet hypersensitivity and ultraviolet hypermutability of a shuttle vector replicated in xeroderma pigmentosum group D cells. Cancer Res 54:3837-3844, 1994
-
(1994)
Cancer Res
, vol.54
, pp. 3837-3844
-
-
Gözükara, E.M.1
Parris, C.N.2
Weber, C.A.3
Salazar, E.P.4
Seidman, M.M.5
Watkins, J.F.6
Prakash, L.7
Kraemer, K.H.8
-
12
-
-
0029088143
-
The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH
-
Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV, Friedberg EC: The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. Cell 82:555-564, 1995
-
(1995)
Cell
, vol.82
, pp. 555-564
-
-
Henning, K.A.1
Li, L.2
Iyer, N.3
McDaniel, L.D.4
Reagan, M.S.5
Legerski, R.6
Schultz, R.A.7
Stefanini, M.8
Lehmann, A.R.9
Mayne, L.V.10
Friedberg, E.C.11
-
13
-
-
0021821502
-
A mild form of xeroderma pigmentosum assigned to complementation group G and its repair heterogeneity
-
Ichihashi M, Fujiwara Y, Uehara Y, Matsumoto A: A mild form of xeroderma pigmentosum assigned to complementation group G and its repair heterogeneity. J Invest Dermatol 85:284-287, 1985
-
(1985)
J Invest Dermatol
, vol.85
, pp. 284-287
-
-
Ichihashi, M.1
Fujiwara, Y.2
Uehara, Y.3
Matsumoto, A.4
-
14
-
-
0024428765
-
Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome
-
Jaeken J, Klocker H, Schwaiger H, Bellmann R, Hirsch-Kaufmann M, Schweiger M: Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome. Hum Genet 83:339-346, 1989
-
(1989)
Hum Genet
, vol.83
, pp. 339-346
-
-
Jaeken, J.1
Klocker, H.2
Schwaiger, H.3
Bellmann, R.4
Hirsch-Kaufmann, M.5
Schweiger, M.6
-
15
-
-
0018420931
-
A seventh complementation group in excision-deficient xeroderma pigmentosum
-
Keijzer W, Jaspers NG, Abrahams PJ, Taylor AM, Arlett CF, Zelle B, Takebe H, Kinmont PD, Bootsma D: A seventh complementation group in excision-deficient xeroderma pigmentosum. Mutat Res 62:183-190, 1979
-
(1979)
Mutat Res
, vol.62
, pp. 183-190
-
-
Keijzer, W.1
Jaspers, N.G.2
Abrahams, P.J.3
Taylor, A.M.4
Arlett, C.F.5
Zelle, B.6
Takebe, H.7
Kinmont, P.D.8
Bootsma, D.9
-
16
-
-
0002224507
-
Heritable diseases with increased sensitivity to cellular injury
-
Fitzpatrick TB, Eisen AZ, Wolff K, Freedberg IM, Austen KF (eds.). McGraw-Hill, New York
-
Kraemer KH: Heritable diseases with increased sensitivity to cellular injury. In: Fitzpatrick TB, Eisen AZ, Wolff K, Freedberg IM, Austen KF (eds.). Dermatology in General Medicine. McGraw-Hill, New York, 1993, p 1974
-
(1993)
Dermatology in General Medicine
, pp. 1974
-
-
Kraemer, K.H.1
-
17
-
-
0024541893
-
Reduced DNA repair in cultured melanocytes and nevus cells from a patient with xeroderma pigmentosum
-
Kraemer KH, Herlyn M, Yuspa SH, Clark WH Jr, Townsend GK, Neises GR, Hearing VJ: Reduced DNA repair in cultured melanocytes and nevus cells from a patient with xeroderma pigmentosum. Arch Dermatol 125:263-268, 1989
-
(1989)
Arch Dermatol
, vol.125
, pp. 263-268
-
-
Kraemer, K.H.1
Herlyn, M.2
Yuspa, S.H.3
Clark Jr., W.H.4
Townsend, G.K.5
Neises, G.R.6
Hearing, V.J.7
-
18
-
-
0023130695
-
Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases
-
Kraemer KH, Lee MM, Scotto J: Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 123:241-250, 1987
-
(1987)
Arch Dermatol
, vol.123
, pp. 241-250
-
-
Kraemer, K.H.1
Lee, M.M.2
Scotto, J.3
-
19
-
-
0020374786
-
Three complementation groups in Cockayne syndrome
-
Lehmann AR: Three complementation groups in Cockayne syndrome. Mutat Res 106:347-356, 1982
-
(1982)
Mutat Res
, vol.106
, pp. 347-356
-
-
Lehmann, A.R.1
-
20
-
-
0027303168
-
Cockayne's syndrome: Correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation
-
Lehmann AR, Thompson AF, Harcourt SA, Stefanini M, Norris PG: Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation. J Med Genet 30:679-682, 1993
-
(1993)
J Med Genet
, vol.30
, pp. 679-682
-
-
Lehmann, A.R.1
Thompson, A.F.2
Harcourt, S.A.3
Stefanini, M.4
Norris, P.G.5
-
21
-
-
0018874212
-
Increased sensitivity of cell strains from Cockayne's syndrome to sister-chromatid-exchange induction and cell killing by UV light
-
Marshall RR, Arlett CF, Harcourt SA, Broughton BA: Increased sensitivity of cell strains from Cockayne's syndrome to sister-chromatid-exchange induction and cell killing by UV light. Mutat Res 69:107-112, 1980
-
(1980)
Mutat Res
, vol.69
, pp. 107-112
-
-
Marshall, R.R.1
Arlett, C.F.2
Harcourt, S.A.3
Broughton, B.A.4
-
22
-
-
0020066520
-
Failure of RNA synthesis to recover after UV irradiation: An early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum
-
Mayne LV, Lehmann AR: Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum. Cancer Res 42:1473-1478, 1982
-
(1982)
Cancer Res
, vol.42
, pp. 1473-1478
-
-
Mayne, L.V.1
Lehmann, A.R.2
-
23
-
-
0028226174
-
A potential laboratory test for dysplastic nevus syndrome: Ultraviolet hypermutability of a shuttle vector plasmid
-
Moriwaki S-I, Tarone RE, Kraemer KH: A potential laboratory test for dysplastic nevus syndrome: ultraviolet hypermutability of a shuttle vector plasmid. J Invest Dermatol 103:7-12, 1994
-
(1994)
J Invest Dermatol
, vol.103
, pp. 7-12
-
-
Moriwaki, S.-I.1
Tarone, R.E.2
Kraemer, K.H.3
-
24
-
-
0006587755
-
A new patient with both xeroderma pigmentosum and Cockayne syndrome establishes the new xeroderma pigmentosum complementation group H
-
Friedberg EC, Bridges BA (eds.). Alan R. Liss, New York
-
Moshell AN, Ganges MB, Lutzner MA, Coon HG, Barrett SF, Dupuy JM, Robbins JH: A new patient with both xeroderma pigmentosum and Cockayne syndrome establishes the new xeroderma pigmentosum complementation group H. In: Friedberg EC, Bridges BA (eds.). Cellular Responses to DNA Damage. Alan R. Liss, New York, 1983, p 209
-
(1983)
Cellular Responses to DNA Damage
, pp. 209
-
-
Moshell, A.N.1
Ganges, M.B.2
Lutzner, M.A.3
Coon, H.G.4
Barrett, S.F.5
Dupuy, J.M.6
Robbins, J.H.7
-
25
-
-
0028896837
-
Reconstitution of human DNA repair excision nuclease in a highly defined system
-
Mu D, Park C-H, Matsunaga T, Hsu DS, Reardon JT, Sancar A: Reconstitution of human DNA repair excision nuclease in a highly defined system. J Biol Chem 270:2415-2418, 1995
-
(1995)
J Biol Chem
, vol.270
, pp. 2415-2418
-
-
Mu, D.1
Park, C.-H.2
Matsunaga, T.3
Hsu, D.S.4
Reardon, J.T.5
Sancar, A.6
-
26
-
-
0025687972
-
Isolation of the functional human excision repair gene ERCC5 by intercosmid recombination
-
Mudgett JS, MacInnes MA: Isolation of the functional human excision repair gene ERCC5 by intercosmid recombination. Genomics 8:623-633, 1990
-
(1990)
Genomics
, vol.8
, pp. 623-633
-
-
Mudgett, J.S.1
MacInnes, M.A.2
-
27
-
-
0025969667
-
UV mutation spectra in cell lines from patients with Cockayne's syndrome and ataxia telangiectasia, using the shuttle vector pZ189
-
Muriel WJ, Lamb JR, Lehmann AR: UV mutation spectra in cell lines from patients with Cockayne's syndrome and ataxia telangiectasia, using the shuttle vector pZ189. Mutat Res 254:119-123, 1991
-
(1991)
Mutat Res
, vol.254
, pp. 119-123
-
-
Muriel, W.J.1
Lamb, J.R.2
Lehmann, A.R.3
-
28
-
-
0026508774
-
Cockayne syndrome: Review of 140 cases
-
Nance MA, Berry SA: Cockayne syndrome: review of 140 cases. Am J Med Genet 42:68-84, 1992
-
(1992)
Am J Med Genet
, vol.42
, pp. 68-84
-
-
Nance, M.A.1
Berry, S.A.2
-
29
-
-
0023279280
-
Xeroderma pigmentosum complementation group G - Report of two cases
-
Norris PG, Hawk JL, Avery JA, Giannelli F: Xeroderma pigmentosum complementation group G - report of two cases. Br J Dermatol 116:861-806, 1987
-
(1987)
Br J Dermatol
, vol.116
, pp. 861-1806
-
-
Norris, P.G.1
Hawk, J.L.2
Avery, J.A.3
Giannelli, F.4
-
30
-
-
0028341685
-
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient
-
Nouspikel T, Clarkson SG: Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. Hum Mol Genet 3:963-967, 1994
-
(1994)
Hum Mol Genet
, vol.3
, pp. 963-967
-
-
Nouspikel, T.1
Clarkson, S.G.2
-
31
-
-
0027322756
-
Identical defects in DNA repair in xeroderma pigmentosum group G and rodent ERCC group 5
-
see comments
-
O'Donovan A, Wood RD: Identical defects in DNA repair in xeroderma pigmentosum group G and rodent ERCC group 5 [see comments]. Nature 363:1 85-188, 1993
-
(1993)
Nature
, vol.363
, pp. 185-188
-
-
O'Donovan, A.1
Wood, R.D.2
-
32
-
-
0027327951
-
Ultraviolet-induced mutations in Cockayne syndrome cells are primarily caused by cyclobutane dimer photoproducts while repair of other photoproducts is normal
-
Parris CN, Kraemer KH: Ultraviolet-induced mutations in Cockayne syndrome cells are primarily caused by cyclobutane dimer photoproducts while repair of other photoproducts is normal. Proc Natl Acad Sci USA 90:7260-7264, 1993
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 7260-7264
-
-
Parris, C.N.1
Kraemer, K.H.2
-
33
-
-
0007711763
-
One pyrimidine dimer inactivates expression of a transfected gene in xeroderma pigmentosum cells
-
Protić-Sabljić M, Kraemer KH: One pyrimidine dimer inactivates expression of a transfected gene in xeroderma pigmentosum cells. Proc Natl Acad Sci USA 82:6622-6626, 1985
-
(1985)
Proc Natl Acad Sci USA
, vol.82
, pp. 6622-6626
-
-
Protić-Sabljić, M.1
Kraemer, K.H.2
-
34
-
-
0022712061
-
Reduced repair of non-dimer photoproducts in a gene transfected into xeroderma pigmentosum cells
-
Protić-Sabljić M, Kraemer KH: Reduced repair of non-dimer photoproducts in a gene transfected into xeroderma pigmentosum cells. Photochem Photobiol 43:509-513, 1986
-
(1986)
Photochem Photobiol
, vol.43
, pp. 509-513
-
-
Protić-Sabljić, M.1
Kraemer, K.H.2
-
35
-
-
0023879690
-
Xeroderma pigmentosum. Defective DNA repair causes skin cancer and neurodegeneration [clinical conference]
-
Robbins JH: Xeroderma pigmentosum. Defective DNA repair causes skin cancer and neurodegeneration [clinical conference]. JAMA 260:384-388, 1988
-
(1988)
JAMA
, vol.260
, pp. 384-388
-
-
Robbins, J.H.1
-
36
-
-
0025820574
-
Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form
-
Robbins JH, Brumback RA, Mendiones M, Barrett SF, Carl JR, Cho S, Denckla MB, Ganges MB, Gerber LH, Guthrie RA: Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form. Brain 114:1335-1361, 1991
-
(1991)
Brain
, vol.114
, pp. 1335-1361
-
-
Robbins, J.H.1
Brumback, R.A.2
Mendiones, M.3
Barrett, S.F.4
Carl, J.R.5
Cho, S.6
Denckla, M.B.7
Ganges, M.B.8
Gerber, L.H.9
Guthrie, R.A.10
-
37
-
-
0015982924
-
Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair
-
Robbins JH, Kraemer KH, Lutzner MA, Festoff BW, Coon HG: Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann Intern Med 80:221-248, 1974
-
(1974)
Ann Intern Med
, vol.80
, pp. 221-248
-
-
Robbins, J.H.1
Kraemer, K.H.2
Lutzner, M.A.3
Festoff, B.W.4
Coon, H.G.5
-
38
-
-
0027431065
-
Xeroderma pigmentosum-Cockayne syndrome complex in two patients: Absence of skin tumors despite severe deficiency of DNA excision repair
-
Scott RJ, Itin P, Kleijer WJ, Kolb K, Arlett C, Muller H: Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair. J Am Acad Dermatol 29(suppl):883-889, 1993
-
(1993)
J Am Acad Dermatol
, vol.29
, Issue.SUPPL.
, pp. 883-889
-
-
Scott, R.J.1
Itin, P.2
Kleijer, W.J.3
Kolb, K.4
Arlett, C.5
Muller, H.6
-
39
-
-
0029972595
-
Genetic analysis of twenty-two patients with Cockayne syndrome
-
Stefanini M, Fawcett H, Botta E, Nardo T, Lehmann AR: Genetic analysis of twenty-two patients with Cockayne syndrome. Hum Genet 97:418-423, 1996
-
(1996)
Hum Genet
, vol.97
, pp. 418-423
-
-
Stefanini, M.1
Fawcett, H.2
Botta, E.3
Nardo, T.4
Lehmann, A.R.5
-
40
-
-
0026543076
-
DNA repair investigations in nine Italian patients affected by trichothiodystrophy
-
Stefanini M, Giliani S, Nardo T, Marinoni S, Nazzaro V, Rizzo R, Trevisan G: DNA repair investigations in nine Italian patients affected by trichothiodystrophy. Mutat Res 273:119-125, 1992
-
(1992)
Mutat Res
, vol.273
, pp. 119-125
-
-
Stefanini, M.1
Giliani, S.2
Nardo, T.3
Marinoni, S.4
Nazzaro, V.5
Rizzo, R.6
Trevisan, G.7
-
41
-
-
0027262205
-
Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy
-
Stefanini M, Lagomarsini P, Giliani S, Nardo T, Botta E, Peserico A, Kleijer WJ, Lehmann AR, Sarasin A: Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy. Carcinogenesis 14:1101-1105, 1993
-
(1993)
Carcinogenesis
, vol.14
, pp. 1101-1105
-
-
Stefanini, M.1
Lagomarsini, P.2
Giliani, S.3
Nardo, T.4
Botta, E.5
Peserico, A.6
Kleijer, W.J.7
Lehmann, A.R.8
Sarasin, A.9
-
42
-
-
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 JH: ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes. Cell 71:939-953, 1992
-
(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
-
43
-
-
0025341294
-
The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA
-
Venema J, Mullenders LH, Natarajan AT, van Zeeland AA, Mayne LV: The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA. Proc Natl Acad Sci USA 87:4707-4711, 1990
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 4707-4711
-
-
Venema, J.1
Mullenders, L.H.2
Natarajan, A.T.3
Van Zeeland, A.A.4
Mayne, L.V.5
-
44
-
-
0027360041
-
Xeroderma pigmentosum complementation group G associated with Cockayne syndrome
-
Vermeulen W, Jaeken J, Jaspers, NG, Bootsma D, Hoeijmakers JH: Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. Am J Hum Genet 53:185-192, 1993
-
(1993)
Am J Hum Genet
, vol.53
, pp. 185-192
-
-
Vermeulen, W.1
Jaeken, J.2
Jaspers, N.G.3
Bootsma, D.4
Hoeijmakers, J.H.5
-
45
-
-
0028085120
-
Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3
-
Vermeulen W, Scott RJ, Rodgers S, Muller HJ, Cole J, Arlett CF, Kleijer WJ, Bootsma D, Hoeijmakers JH, Weeda G: Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. Am J Hum Genet 54:191-200, 1994a
-
(1994)
Am J Hum Genet
, 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
-
46
-
-
0025827018
-
Xeroderma pigmentosum complementation group H falls into complementation group D
-
Vermeulen W, Stefanini M, Giliani S, Hoeijmakers JH, Bootsma D: Xeroderma pigmentosum complementation group H falls into complementation group D. Mutat Res 255:201-208, 1991
-
(1991)
Mutat Res
, vol.255
, pp. 201-208
-
-
Vermeulen, W.1
Stefanini, M.2
Giliani, S.3
Hoeijmakers, J.H.4
Bootsma, D.5
-
47
-
-
0028673969
-
Three unusual repair deficiencies associated with transcription factor BTF2(TFIIH): Evidence for the existence of a transcription syndrome
-
Vermeulen W, Van Vuuren AJ, Chipoulet M, Schaeffer L, Appeldoorn E, Weeda G, Jaspers NGJ, Priestley A, Arlett CF, Lehmann AR, Stefanini M, Mezzina M, Sarasin A, Bootsma D, Egly J-M, Hoeijmakers JHJ: Three unusual repair deficiencies associated with transcription factor BTF2(TFIIH): evidence for the existence of a transcription syndrome. Cold Spring Harb Symp Quant Biol 59:317-330, 1994
-
(1994)
Cold Spring Harb Symp Quant Biol
, vol.59
, pp. 317-330
-
-
Vermeulen, W.1
Van Vuuren, A.J.2
Chipoulet, M.3
Schaeffer, L.4
Appeldoorn, E.5
Weeda, G.6
Jaspers, N.G.J.7
Priestley, A.8
Arlett, C.F.9
Lehmann, A.R.10
Stefanini, M.11
Mezzina, M.12
Sarasin, A.13
Bootsma, D.14
Egly, J.-M.15
Hoeijmakers, J.H.J.16
-
48
-
-
0025250069
-
ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3
-
Weber CA, Salazar EP, Stewart SA, Thompson LH: ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3. EMBO J 9:1437-1447, 1990
-
(1990)
EMBO J
, vol.9
, pp. 1437-1447
-
-
Weber, C.A.1
Salazar, E.P.2
Stewart, S.A.3
Thompson, L.H.4
-
49
-
-
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 RC, Vermeulen W, Bootsma D, van der Eb AJ, Hoeijmakers JH: A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome. Cell 62:777-791, 1990
-
(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
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