Clinical and cellular ionising radiation sensitivity in a patient with xeroderma pigmentosum. (2006)
Arlett, C. F., Plowman, P. N., Rogers, P. B., Parris, C. N., Abbaszadeh, F., Green, M. H. L., ...
XP14BR is a cell line derived from a xeroderma pigmentosum (XP) patient from complementation group C. The patient was unusual in presenting with an angiosarcoma of the scalp, treated by surgical...
Klein, A. De, Muijtjens, M., Os, R. Van, Verhoeven, Y., Smit, B., Carr, A.M., ...
Checkpoints of DNA integrity are conserved throughout evolution, as are the kinases ATM (Ataxia Telangiectasia mutated) and ATR (Ataxia- and Rad-related), which are related to phosphatidylinositol...
Broughton, B.C., Thompson, A.F., Harcourt, S.A., Vermeulen, W., Hoeijmakers, J.H.J., Botta, E., ...
Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are quite distinct genetic disorders that are associated with defects in excision repair of UV-induced DNA damage. A few patients have been...
Mezzina, M., Eveno, E., Chevalier-Lagente, O., Benoit, A., Carreau, M., Vermeulen, W., ...
Trichothiodystrophy (TTD) is a rare genetic disease with heterogeneous clinical features associated with specific deficiencies in nucleotide excision repair. Patients have brittle hair due to a...
Stefanini, M., Vermeulen, W., Weeda, G., Giliani, S., Nardo, T., Mezzina, M., ...
The sun-sensitive, cancer-prone genetic disorder xeroderma pigmentosum (XP) is associated in most cases with a defect in the ability to carry out excision repair of UV damage. Seven genetically...
Workshop on DNA repair. (1992)
Lehmann, A.R., Hoeijmakers, J.H.J., Zeeland, A.A. Van, Backendorf, C.M.P., Bridges, B.A., Collins, A., ...
A workshop on DNA repair with emphasis on eukaryotic systems was held, under the auspices of the EC Concerted Action on DNA Repair and Cancer, at Noordwijkerhout (The Netherlands) 14-19 April 1991....
Molecular aspects of DNA repair. (1987)
Friedberg, E.C., Backendorf, C., Burke, J., Collins, A., Grossman, L., Hoeijmakers, J.H.J., ...
--
Blunt, T, Gell, D, Fox, M, Taccioli, G E, Lehmann, A R, Jackson, S P, ...
DNA-dependent protein kinase (DNA-PK) consists of a heterodimeric protein (Ku) and a large catalytic subunit (DNA-PKcs). The Ku protein has double-stranded DNA end-binding activity that serves to...
Yonemasu, R, McCready, S J, Murray, J M, Osman, F, Takao, M, Yamamoto, K, ...
Schizosaccharomyces pombe cells deficient in nucleotide excision repair (NER) are still able to remove photoproducts from cellular DNA, showing that there is a second pathway for repair of UV damage...
Van Hoffen, A, Kalle, W H, De Jong-Versteeg, A, Lehmann, A R, Van Zeeland, A A, Mullenders, L H
Xeroderma pigmentosum (XP) is a rare hereditary human disorder clinically associated with severe sun sensitivity and predisposition to skin cancer. Some XP patients also show clinical characteristics...
Lehmann, A R, Walicka, M, Griffiths, D J, Murray, J M, Watts, F Z, McCready, S, ...
The rad18 mutant of Schizosaccharomyces pombe is very sensitive to killing by both UV and gamma radiation. We have cloned and sequenced the rad18 gene and isolated and sequenced its homolog from...
Molecular and biochemical characterization of xrs mutants defective in Ku80.
Singleton, B K, Priestley, A, Steingrimsdottir, H, Gell, D, Blunt, T, Jackson, S P, ...
The gene product defective in radiosensitive CHO mutants belonging to ionizing radiation complementation group 5, which includes the extensively studied xrs mutants, has recently been identified as...
Al-Khodairy, F, Fotou, E, Sheldrick, K S, Griffiths, D J, Lehmann, A R, Carr, A M
To investigate the mechanisms that ensure the dependency relationships between cell cycle events and to investigate the checkpoints that prevent progression through the cell cycle after DNA damage,...
Carr, A M, Sheldrick, K S, Murray, J M, Al-Harithy, R, Watts, F Z, Lehmann, A R
Cells mutated at the rad13 locus in the fission yeast, Schizosaccharomyces pombe are deficient in excision-repair of UV damage. We have cloned the S.pombe rad13 gene by its ability to complement the...
Doe, C L, Murray, J M, Shayeghi, M, Hoskins, M, Lehmann, A R, Carr, A M, ...
The Schizosaccharomyces pombe rad8 mutant is sensitive to both UV and gamma irradiation. We have cloned the rad8 gene by complementation of the UV sensitivity of a rad8.190 mutant strain. The gene...
Cloning the RAD51 homologue of Schizosaccharomyces pombe.
Muris, D F, Vreeken, K, Carr, A M, Broughton, B C, Lehmann, A R, Lohman, P H, ...
The RAD51 gene of Saccharomyces cerevisiae encodes a RecA like protein, which is involved in the recombinational repair of double strand breaks. We have isolated the RAD51 homologue, rhp51+, of the...
Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene.
Steingrimsdottir, H, Rowley, G, Dorado, G, Cole, J, Lehmann, A R
A large proportion of mutations at the human hprt locus result in aberrant splicing of the hprt mRNA. We have been able to relate the mutation to the splicing abnormality in 30 of these mutants....
The response of ataxia telangiectasia cells to bleomycin.
The autosomal recessive disorder, ataxia telangiectasia (AT) is characterised by cellular sensitivity to ionizing radiation. The molecular basis of this radiosensitivity is the subject of...
Cloning and characterisation of the rad9 DNA repair gene from Schizosaccharomyces pombe.
Murray, J M, Carr, A M, Lehmann, A R, Watts, F Z
The rad9.192 DNA repair mutant from the fission yeast, Schizosaccharomyces pombe, is sensitive to both UV and ionising radiation. The rad9 gene has been cloned by complementation of the gamma-ray...
Fenech, M, Carr, A M, Murray, J, Watts, F Z, Lehmann, A R
The rad4.116 mutant of the fission yeast Schizosaccharomyces pombe is temperature-sensitive for growth, as well as being sensitive to the killing actions of both ultraviolet light and ionizing...
Murray, J M, Doe, C L, Schenk, P, Carr, A M, Lehmann, A R, Watts, F Z
The RAD3 gene of Saccharomyces cerevisiae encodes an ATP-dependent 5'-3' DNA helicase, which is involved in excision repair of ultraviolet radiation damage. By hybridisation of a Schizosaccharomyces...
The activity of the chloramphenicol acetyltransferase (cat) gene after transfection into human fibroblasts has been measured following treatment of the plasmid pRSVcat with either restriction enzymes...
The relationship between pyrimidine dimers and replicating DNA in UV-irradiated human fibroblasts.
The relationship between pyrimidine dimers (measured as endonuclease-sensitive sites) and newly-synthesized DNA has been examined in several different ways, with the following results:- 1. After...
Murray, J M, Tavassoli, M, Al-Harithy, R, Sheldrick, K S, Lehmann, A R, Carr, A M, ...
The rad2 mutant of Schizosaccharomyces pombe is sensitive to UV irradiation and deficient in the repair of UV damage. In addition, it has a very high degree of chromosome loss and/or nondisjunction....
Gebara, M M, Drevon, C, Harcourt, S A, Steingrimsdottir, H, James, M R, Burke, J F, ...
Plasmids containing the bacterial gpt gene under control of the simian virus 40 promoter were transfected into a simian virus 40-transformed human fibroblast line. Two transfectants, E2 and C10,...
Griffiths, D J, Barbet, N C, McCready, S, Lehmann, A R, Carr, A M
Following DNA damage or a block to DNA synthesis, checkpoint pathways act to arrest mitosis and prevent the attempted segregation of damaged or unreplicated DNA. The rad17 locus of...
Henderson, L M, Arlett, C F, Harcourt, S A, Lehmann, A R, Broughton, B C
A fibroblast cell strain, 46BR, derived from an immunodeficient patient is hypersensitive to the lethal effects of a wide range of DNA-damaging agents. It is also defective in strand-break rejoining...
Xeroderma pigmentosum variant: 5 years of tumour suppression by etretinate.
Berth-Jones, J, Cole, J, Lehmann, A R, Arlett, C F, Graham-Brown, R A
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
Mallery, D L, Tanganelli, B, Colella, S, Steingrimsdottir, H, Van Gool, A J, Troelstra, C, ...
Cockayne syndrome is a multisystem sun-sensitive genetic disorder associated with a specific defect in the ability to perform transcription-coupled repair of active genes after UV irradiation. Two...
Botta, E, Nardo, T, Broughton, B C, Marinoni, S, Lehmann, A R, Stefanini, M
Xeroderma pigmentosum (XP) complementation group D is a heterogeneous group, containing patients with XP alone, rare cases with both XP and Cockayne syndrome, and patients with trichothiodystrophy...
Effect of Caffeine on DNA Synthesis in Mammalian Cells
Alkaline sucrose sedimentation studies of DNA from mouse lymphoma cells (L5178Y) treated with caffeine have demonstrated the following effects. Caffeine (at a concentration of 1.6 mM) does not...
A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy
Stefanini, M., Vermeulen, W., Weeda, G., Giliani, S., Nardo, T., Mezzina, M., ...
The sun-sensitive, cancer-prone genetic disorder xeroderma pigmentosum (XP) is associated in most cases with a defect in the ability to carry out excision repair of UV damage. Seven genetically...
Mayne, L V, Broughton, B C, Lehmann, A R
Cells from individuals with Cockayne syndrome (CS) are hypersensitive to the lethal effects of ultraviolet light (uv) and show a number of abnormal biochemical responses following uv-irradiation....
Blunt, T, Gell, D, Fox, M, Taccioli, G E, Lehmann, A R, Jackson, S P, ...
DNA-dependent protein kinase (DNA-PK) consists of a heterodimeric protein (Ku) and a large catalytic subunit (DNA-PKcs). The Ku protein has double-stranded DNA end-binding activity that serves to...
Yonemasu, R, McCready, S J, Murray, J M, Osman, F, Takao, M, Yamamoto, K, ...
Schizosaccharomyces pombe cells deficient in nucleotide excision repair (NER) are still able to remove photoproducts from cellular DNA, showing that there is a second pathway for repair of UV damage...
Van Hoffen, A, Kalle, W H, De Jong-Versteeg, A, Lehmann, A R, Van Zeeland, A A, Mullenders, L H
Xeroderma pigmentosum (XP) is a rare hereditary human disorder clinically associated with severe sun sensitivity and predisposition to skin cancer. Some XP patients also show clinical characteristics...
Lehmann, A R, Walicka, M, Griffiths, D J, Murray, J M, Watts, F Z, McCready, S, ...
The rad18 mutant of Schizosaccharomyces pombe is very sensitive to killing by both UV and gamma radiation. We have cloned and sequenced the rad18 gene and isolated and sequenced its homolog from...
Molecular and biochemical characterization of xrs mutants defective in Ku80.
Singleton, B K, Priestley, A, Steingrimsdottir, H, Gell, D, Blunt, T, Jackson, S P, ...
The gene product defective in radiosensitive CHO mutants belonging to ionizing radiation complementation group 5, which includes the extensively studied xrs mutants, has recently been identified as...
Al-Khodairy, F, Fotou, E, Sheldrick, K S, Griffiths, D J, Lehmann, A R, Carr, A M
To investigate the mechanisms that ensure the dependency relationships between cell cycle events and to investigate the checkpoints that prevent progression through the cell cycle after DNA damage,...
Carr, A M, Sheldrick, K S, Murray, J M, Al-Harithy, R, Watts, F Z, Lehmann, A R
Cells mutated at the rad13 locus in the fission yeast, Schizosaccharomyces pombe are deficient in excision-repair of UV damage. We have cloned the S.pombe rad13 gene by its ability to complement the...
Doe, C L, Murray, J M, Shayeghi, M, Hoskins, M, Lehmann, A R, Carr, A M, ...
The Schizosaccharomyces pombe rad8 mutant is sensitive to both UV and gamma irradiation. We have cloned the rad8 gene by complementation of the UV sensitivity of a rad8.190 mutant strain. The gene...
Cloning the RAD51 homologue of Schizosaccharomyces pombe.
Muris, D F, Vreeken, K, Carr, A M, Broughton, B C, Lehmann, A R, Lohman, P H, ...
The RAD51 gene of Saccharomyces cerevisiae encodes a RecA like protein, which is involved in the recombinational repair of double strand breaks. We have isolated the RAD51 homologue, rhp51+, of the...
Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene.
Steingrimsdottir, H, Rowley, G, Dorado, G, Cole, J, Lehmann, A R
A large proportion of mutations at the human hprt locus result in aberrant splicing of the hprt mRNA. We have been able to relate the mutation to the splicing abnormality in 30 of these mutants....
The response of ataxia telangiectasia cells to bleomycin.
The autosomal recessive disorder, ataxia telangiectasia (AT) is characterised by cellular sensitivity to ionizing radiation. The molecular basis of this radiosensitivity is the subject of...
Cloning and characterisation of the rad9 DNA repair gene from Schizosaccharomyces pombe.
Murray, J M, Carr, A M, Lehmann, A R, Watts, F Z
The rad9.192 DNA repair mutant from the fission yeast, Schizosaccharomyces pombe, is sensitive to both UV and ionising radiation. The rad9 gene has been cloned by complementation of the gamma-ray...
Fenech, M, Carr, A M, Murray, J, Watts, F Z, Lehmann, A R
The rad4.116 mutant of the fission yeast Schizosaccharomyces pombe is temperature-sensitive for growth, as well as being sensitive to the killing actions of both ultraviolet light and ionizing...
Murray, J M, Doe, C L, Schenk, P, Carr, A M, Lehmann, A R, Watts, F Z
The RAD3 gene of Saccharomyces cerevisiae encodes an ATP-dependent 5'-3' DNA helicase, which is involved in excision repair of ultraviolet radiation damage. By hybridisation of a Schizosaccharomyces...
The activity of the chloramphenicol acetyltransferase (cat) gene after transfection into human fibroblasts has been measured following treatment of the plasmid pRSVcat with either restriction enzymes...
The relationship between pyrimidine dimers and replicating DNA in UV-irradiated human fibroblasts.
The relationship between pyrimidine dimers (measured as endonuclease-sensitive sites) and newly-synthesized DNA has been examined in several different ways, with the following results:- 1. After...
Murray, J M, Tavassoli, M, Al-Harithy, R, Sheldrick, K S, Lehmann, A R, Carr, A M, ...
The rad2 mutant of Schizosaccharomyces pombe is sensitive to UV irradiation and deficient in the repair of UV damage. In addition, it has a very high degree of chromosome loss and/or nondisjunction....
Gebara, M M, Drevon, C, Harcourt, S A, Steingrimsdottir, H, James, M R, Burke, J F, ...
Plasmids containing the bacterial gpt gene under control of the simian virus 40 promoter were transfected into a simian virus 40-transformed human fibroblast line. Two transfectants, E2 and C10,...
Griffiths, D J, Barbet, N C, McCready, S, Lehmann, A R, Carr, A M
Following DNA damage or a block to DNA synthesis, checkpoint pathways act to arrest mitosis and prevent the attempted segregation of damaged or unreplicated DNA. The rad17 locus of...
Henderson, L M, Arlett, C F, Harcourt, S A, Lehmann, A R, Broughton, B C
A fibroblast cell strain, 46BR, derived from an immunodeficient patient is hypersensitive to the lethal effects of a wide range of DNA-damaging agents. It is also defective in strand-break rejoining...
Xeroderma pigmentosum variant: 5 years of tumour suppression by etretinate.
Berth-Jones, J, Cole, J, Lehmann, A R, Arlett, C F, Graham-Brown, R A
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
Mallery, D L, Tanganelli, B, Colella, S, Steingrimsdottir, H, Van Gool, A J, Troelstra, C, ...
Cockayne syndrome is a multisystem sun-sensitive genetic disorder associated with a specific defect in the ability to perform transcription-coupled repair of active genes after UV irradiation. Two...
Botta, E, Nardo, T, Broughton, B C, Marinoni, S, Lehmann, A R, Stefanini, M
Xeroderma pigmentosum (XP) complementation group D is a heterogeneous group, containing patients with XP alone, rare cases with both XP and Cockayne syndrome, and patients with trichothiodystrophy...
Effect of Caffeine on DNA Synthesis in Mammalian Cells
Alkaline sucrose sedimentation studies of DNA from mouse lymphoma cells (L5178Y) treated with caffeine have demonstrated the following effects. Caffeine (at a concentration of 1.6 mM) does not...
A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy
Stefanini, M., Vermeulen, W., Weeda, G., Giliani, S., Nardo, T., Mezzina, M., ...
The sun-sensitive, cancer-prone genetic disorder xeroderma pigmentosum (XP) is associated in most cases with a defect in the ability to carry out excision repair of UV damage. Seven genetically...
Mayne, L V, Broughton, B C, Lehmann, A R
Cells from individuals with Cockayne syndrome (CS) are hypersensitive to the lethal effects of ultraviolet light (uv) and show a number of abnormal biochemical responses following uv-irradiation....
Broughton, B. C., Thompson, A. F., Harcourt, S. A., Vermeulen, W., Hoeijmakers, J. H. J., Botta, E., ...
Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are quite distinct genetic disorders that are associated with defects in excision repair of UV-induced DNA damage. A few patients have been...