Publications by authors named "Alain Sarasin"

100Publications

XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature.

Nat Commun 2020 11 17;11(1):5834. Epub 2020 Nov 17.

INSERM U981, Gustave Roussy Cancer Campus, Université Paris Saclay, Villejuif, France.

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November 2020

NK Cell and Fibroblast-Mediated Regulation of Skin Squamous Cell Carcinoma Invasion by CLEC2A Is Compromised in Xeroderma Pigmentosum.

J Invest Dermatol 2020 Sep 13;140(9):1723-1732. Epub 2020 Feb 13.

Université Côte d'Azur, INSERM, CNRS, Institute for Research on Cancer and Aging, Nice, U1081, UMR7284, Nice, France. Electronic address:

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September 2020

Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome.

Sci Rep 2020 01 24;10(1):1105. Epub 2020 Jan 24.

IGBMC, Department of Functional Genomics and Cancer, Equipe Labellisée Ligue 2014, CNRS/INSERM/University of Strasbourg, BP 163, 67404 Illkirch Cedex, C.U., Strasbourg, France.

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January 2020

How history and geography may explain the distribution in the Comorian archipelago of a novel mutation in DNA repair-deficient xeroderma pigmentosum patients.

Genet Mol Biol 2019 13;43(1 suppl 1):e20190046. Epub 2019 Dec 13.

Department of Medical Genetics, INSERM U781 CHU Félix Guyon, La Réunion, France.

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December 2019

XPD/ERCC2 mutations interfere in cellular responses to oxidative stress.

Mutagenesis 2019 12;34(4):341-354

Department of Microbiology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, SP, Brazil.

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December 2019

The key role of UVA-light induced oxidative stress in human Xeroderma Pigmentosum Variant cells.

Free Radic Biol Med 2019 02 13;131:432-442. Epub 2018 Dec 13.

Department of Microbiology, Institute of Biomedical Sciences, University of Sao Paulo, Sao Paulo, SP, Brazil. Electronic address:

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February 2019

Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the POLH gene.

Am J Med Genet A 2017 Sep 8;173(9):2511-2516. Epub 2017 Jul 8.

Laboratory of Genetic Instability and Oncogenesis, UMR8200 CNRS, Gustave Roussy, Université Paris-Sud, Villejuif, France.

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September 2017

Translesion synthesis mechanisms depend on the nature of DNA damage in UV-irradiated human cells.

Nucleic Acids Res 2016 07 19;44(12):5717-31. Epub 2016 Apr 19.

Institute of Biomedical Sciences, University of São Paulo, SP, 05508-000, Brazil

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July 2016

New Functional Signatures for Understanding Melanoma Biology from Tumor Cell Lineage-Specific Analysis.

Cell Rep 2015 Oct 17;13(4):840-853. Epub 2015 Oct 17.

Institut Curie, Normal and Pathological Development of Melanocytes, 91405 Orsay, France; Centre National de la Recherche Scientifique (CNRS) UMR3347, 91405 Orsay, France; INSERM U1021, 91405 Orsay, France; Equipe Labellisée - Ligue Nationale contre le Cancer, 91405 Orsay, France. Electronic address:

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October 2015

DNA damage and gene therapy of xeroderma pigmentosum, a human DNA repair-deficient disease.

Mutat Res 2015 Jun 6;776:2-8. Epub 2014 Sep 6.

Laboratory of Genetic Instability and Oncogenesis UMR8200CNRS, Institut Gustave Roussy and University Paris-Sud, Villejuif, France; Service de Génétique, Institut Gustave Roussy, France. Electronic address:

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June 2015

Reversal of mitochondrial defects with CSB-dependent serine protease inhibitors in patient cells of the progeroid Cockayne syndrome.

Proc Natl Acad Sci U S A 2015 Jun 18;112(22):E2910-9. Epub 2015 May 18.

Institut Pasteur, Department of Genomes and Genetics, Unité de Génétique Moléculaire des Levures, 75724 Paris, France; CNRS UMR 3525, Team Stability of Nuclear and Mitochondrial DNA,

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June 2015

Aberrant C-terminal domain of polymerase η targets the functional enzyme to the proteosomal degradation pathway.

DNA Repair (Amst) 2015 May 26;29:154-65. Epub 2015 Feb 26.

Université Paris-Sud, CNRS-UMR8200, Equipe labellisée Ligue Contre le Cancer, Gustave Roussy, Villejuif, France. Electronic address:

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May 2015

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.

Eur J Hum Genet 2015 Jul 15;23(7):957-62. Epub 2014 Oct 15.

1] Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France [2] Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France.

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July 2015

Genetic variants in DNA repair pathways and risk of upper aerodigestive tract cancers: combined analysis of data from two genome-wide association studies in European populations.

Carcinogenesis 2014 Jul 21;35(7):1523-7. Epub 2014 Mar 21.

Inserm, U946, Genetic Variation and Human, Diseases and Université Paris-Diderot, Sorbonne Paris-Cité, UMRS-946, Paris, F-75010, France, Gustave Roussy, Villejuif, F-94805, France

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July 2014

Gap-filling and bypass at the replication fork are both active mechanisms for tolerance of low-dose ultraviolet-induced DNA damage in the human genome.

DNA Repair (Amst) 2014 Feb 28;14:27-38. Epub 2013 Dec 28.

CNRS-UMR8200, Université Paris Sud, Institut de Cancérologie Gustave Roussy, 94805 Villejuif, France. Electronic address:

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February 2014

Targeted gene therapy of xeroderma pigmentosum cells using meganuclease and TALEN™.

PLoS One 2013 13;8(11):e78678. Epub 2013 Nov 13.

Cellectis S.A., Paris, France ; Unité mixte de recherche 8200, Institut Gustave Roussy, Villejuif, France.

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September 2014

UVSSA and USP7: new players regulating transcription-coupled nucleotide excision repair in human cells.

Authors:
Alain Sarasin

Genome Med 2012 May 23;4(5):44. Epub 2012 May 23.

Laboratory of Genetic Stability and Oncogenesis, UMR8200 CNRS, Institut Gustave Roussy and University Paris-Sud, 114, rue Edouard Vaillant, 94805 Villejuif, France.

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May 2012

Trabectedin and its C subunit modified analogue PM01183 attenuate nucleotide excision repair and show activity toward platinum-resistant cells.

Mol Cancer Ther 2011 Aug 27;10(8):1481-9. Epub 2011 May 27.

Laboratory of Cancer Biology and Therapeutics, Centre de Recherche Saint-Antoine, Institut National de la Santé et de la Recherche Médicale U938, Paris, France.

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August 2011

2nd German-French DNA repair meeting - DNA damage and repair in ageing and degenerative diseases, Konstanz, Germany, September 20-23, 2009.

Mech Ageing Dev 2010 May 17;131(5):370-6. Epub 2010 Mar 17.

Department of Biology, Box X911, University of Konstanz, 78457 Konstanz, Germany.

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May 2010

New clinico-genetic classification of trichothiodystrophy.

Am J Med Genet A 2009 Sep;149A(9):2020-30

Department of Pediatric Dermatology, National Reference Center for Rare Skin Disorders, Pellegrin University Hospitals, Bordeaux, France.

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September 2009

Transcriptional mutagenesis induced by 8-oxoguanine in mammalian cells.

PLoS Genet 2009 Jul 24;5(7):e1000577. Epub 2009 Jul 24.

Laboratoire Génomes et Cancer, CNRS FRE-2939, Institut Gustave Roussy, Villejuif, France.

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July 2009

A backup role of DNA polymerase kappa in Ig gene hypermutation only takes place in the complete absence of DNA polymerase eta.

J Immunol 2009 May;182(10):6353-9

Faculté de Médecine, Institut National de la Santé et de la Recherche Médicale Unite 783 Développement du Système immunitaire, Université Paris Descartes, Site Necker-Enfants Malades, Paris, France.

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May 2009

Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk.

Carcinogenesis 2009 May 23;30(5):763-8. Epub 2009 Feb 23.

Department of Biostatistics and Epidemiology, Institut Gustave Roussy, Villejuif 94805, France.

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May 2009

Progress and prospects of xeroderma pigmentosum therapy.

Authors:
Alain Sarasin

Adv Exp Med Biol 2008 ;637:144-51

Laboratory of Genomes and Cancers, Institute Gustave Roussy, Villejuif, France.

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February 2009

Human DNA polymerase iota protects cells against oxidative stress.

EMBO J 2008 Nov 16;27(21):2883-95. Epub 2008 Oct 16.

Centre National de la Recherche Scientifique FRE2939, Unit of genetic stability and oncogenesis, Institut Gustave Roussy, Université Paris-Sud, Villejuif, France.

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November 2008

Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome.

Cancer Res 2008 Aug;68(15):6074-83

Laboratory of Genetic Stability and Oncogenesis, Centre National de la Recherche Scientifique, Formation de Recherche en Evolution 2939, Institut Gustave Roussy, Université Paris-Sud, Villejuif, France.

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August 2008

Identification of new RECQL4 mutations in Caucasian Rothmund-Thomson patients and analysis of sensitivity to a wide range of genotoxic agents.

Mutat Res 2008 Aug 21;643(1-2):41-7. Epub 2008 Jun 21.

Laboratoire Génomes et Cancers, FRE2939 CNRS, Institut Gustave-Roussy, Université Paris-Sud, PRII, 39 Rue Camille Desmoulins, 94805 Villejuif, France.

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August 2008

Role of DNA polymerases eta, iota and zeta in UV resistance and UV-induced mutagenesis in a human cell line.

DNA Repair (Amst) 2008 Sep 21;7(9):1551-62. Epub 2008 Jul 21.

Institut National de la Santé et de la Recherche Médicale U783 (Développement du Système Immunitaire), Université Paris Descartes, Faculté de Médecine René Descartes, Site Necker-Enfants Malades, Paris Cedex 15, France.

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September 2008

Overexpression of DNA repair genes is associated with metastasis: a new hypothesis.

Mutat Res 2008 Jul-Aug;659(1-2):49-55. Epub 2008 Jan 16.

Genomes and Cancers, FRE2939-CNRS, Institute Gustave Roussy, PR2, 39 rue Camille Desmoulins, 94805 Villejuif, France.

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September 2008

Resistance to ultraviolet-induced apoptosis in DNA repair deficient growth arrested human fibroblasts is not related to recovery from RNA transcription blockage.

Mutat Res 2008 Apr 17;640(1-2):1-7. Epub 2007 Dec 17.

Department of Microbiology, Institute of Biomedical Sciences, Universidade de São Paulo, Av. Prof. Lineu Prestes 1374, 05508-900 São Paulo, Brazil.

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April 2008

CPDs and 6-4PPs play different roles in UV-induced cell death in normal and NER-deficient human cells.

DNA Repair (Amst) 2008 Feb 21;7(2):303-12. Epub 2007 Dec 21.

Department of Microbiology, Institute of Biomedical Sciences, University of São Paulo, Avenue Prof Lineu Prestes, São Paulo, SP, Brazil.

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February 2008

Expression profiling of melanoma cell lines: in search of a progression-related molecular signature.

Future Oncol 2007 Dec;3(6):609-11

Katholieke Universiteit Leuven, Department of Pathology, Morphology & Molecular Pathology Laboratory, University Hospitals Minderbroedersstraat 12, B-3000 Leuven, Belgium.

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December 2007

Safe selection of genetically manipulated human primary keratinocytes with very high growth potential using CD24.

Mol Ther 2007 Dec 21;15(12):2186-93. Epub 2007 Aug 21.

Centre National de la Recherche Scientifique, Genomes and Cancers Unit, Institut Gustave Roussy, Villejuif, France.

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December 2007

Replication and homologous recombination repair regulate DNA double-strand break formation by the antitumor alkylator ecteinascidin 743.

Proc Natl Acad Sci U S A 2007 Aug 26;104(32):13062-7. Epub 2007 Jul 26.

Group of Cancer Biology and Therapeutics, Institut National de la Santé et de la Recherche Médicale, Unité 673, and Université Pierre et Marie Curie, Hôpital Saint-Antoine, 75571 Paris Cedex 12, France.

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August 2007

Transcription through 8-oxoguanine in DNA repair-proficient and Csb(-)/Ogg1(-) DNA repair-deficient mouse embryonic fibroblasts is dependent upon promoter strength and sequence context.

Mutagenesis 2007 Sep 14;22(5):343-51. Epub 2007 Jul 14.

Laboratory of Genetic Instability and Cancer, FRE 2939 CNRS, Institut Gustave Roussy, 94805 Villejuif, France.

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September 2007

Polymorphism discovery in 62 DNA repair genes and haplotype associations with risks for lung and head and neck cancers.

Carcinogenesis 2007 Aug 10;28(8):1731-9. Epub 2007 May 10.

Department of Biostatistics and Epidemiology, Institut Gustave Roussy, 39 rue Camille Desmoulins, 94805 Villejuif cedex, France.

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August 2007

Characterization of DNA reactive and non-DNA reactive anticancer drugs by gene expression profiling.

Mutat Res 2007 Jun 8;619(1-2):16-29. Epub 2007 Feb 8.

sanofi aventis R&D, Drug Safety Evaluation, 13 quai Jules Guesde, 94403 Vitry-Sur-Seine Cedex, France.

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June 2007

New insights for understanding the transcription-coupled repair pathway.

DNA Repair (Amst) 2007 Feb 27;6(2):265-9. Epub 2006 Dec 27.

Genomes and Cancers, Institut Gustave Roussy, CNRS FRE 2939, 39, rue Camille Desmoulins, 94805 Villejuif, France.

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February 2007

Prevalence of human papillomavirus in skin tumors from repair deficient xeroderma pigmentosum patients.

Cancer Lett 2007 Jun 28;250(2):213-9. Epub 2006 Nov 28.

Laboratoire Génomes et Cancers, FRE 2939 CNRS Institut Gustave Roussy, 39 rue Camille Desmoulins, 94805 Villejuif Cedex, France.

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June 2007

BMP2 and BMP6 control p57(Kip2) expression and cell growth arrest/terminal differentiation in normal primary human epidermal keratinocytes.

Cell Signal 2007 Apr 4;19(4):731-9. Epub 2006 Oct 4.

Laboratory of Genomes and Cancers, FRE 2939 CNRS, Institut Gustave Roussy-PR2, 39 rue Camille Desmoulins, 94805 Villejuif, France.

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April 2007

DNA repair: from molecular mechanism to human disease.

DNA Repair (Amst) 2006 Aug;5(8):986-96

Department of Pathology, University of Texas Southwestern, Medical Center at Dallas, 75390, USA.

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August 2006

Adenovirus mediated transduction of the human DNA polymerase eta cDNA.

DNA Repair (Amst) 2006 Aug 23;5(8):925-34. Epub 2006 Jun 23.

Department of Microbiology, Institute of Biomedical Sciences, University of São Paulo, Av. Prof. Lineu Prestes, 1374 São Paulo, SP 05508-900, Brazil.

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August 2006

Complementation assays adapted for DNA repair-deficient keratinocytes.

Methods Mol Biol 2006 ;314:9-23

Laboratory of Genetic Instability and Cancer, Institute Gustave Roussy, Villejuif, France.

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June 2006

The DNA repair genes XPB and XPD defend cells from retroviral infection.

Proc Natl Acad Sci U S A 2006 Mar 13;103(12):4622-7. Epub 2006 Mar 13.

Department of Molecular Virology, and Ohio State University Comprehensive Cancer Center, Ohio State University College of Medicine, Columbus, OH 43210, USA.

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March 2006

Development of new EBV-based vectors for stable expression of small interfering RNA to mimick human syndromes: application to NER gene silencing.

Mol Cancer Res 2005 Sep;3(9):519-29

Laboratoire de Génétique de la Radiosensibilité, Commissariat à l'Energie Atomique, Département de Radiobiologie et de Radiopathologie, Direction des Sciences du Vivant, BP 6, 92265 Fontenay aux Roses, France.

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September 2005

Hypothetical role of RNA damage avoidance in preventing human disease.

Mutat Res 2005 Sep;577(1-2):293-302

Institut Gustave Roussy PR2, CNRS UPR-2169, 39 rue Camille Desmoulins 94805 Villejuif Cedex, France.

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September 2005

The role of UV induced lesions in skin carcinogenesis: an overview of oncogene and tumor suppressor gene modifications in xeroderma pigmentosum skin tumors.

Mutat Res 2005 Apr 25;571(1-2):43-56. Epub 2005 Jan 25.

Laboratory of Genetic Instability and Cancer, UPR2169 CNRS, IFR 54, Institut Gustave Roussy, 39, rue Camille Desmoulins, 94805 Villejuif Cedex, France.

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April 2005

Effects of camptothecin on double-strand break repair by non-homologous end-joining in DNA mismatch repair-deficient human colorectal cancer cell lines.

Nucleic Acids Res 2005 7;33(1):106-13. Epub 2005 Jan 7.

Centre National de la Recherche Scientifique, Unité Propre de Recherche 2169, Genetic Instability and Cancer, Institut Gustave Roussy 39 rue Camille Desmoulins, 94 800 Villejuif, France.

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February 2005

ERCC2 /XPD gene polymorphisms and lung cancer: a HuGE review.

Am J Epidemiol 2005 Jan;161(1):1-14

Institut National de la Santé et de la Recherche Médicale-Evry University, 91034 Evry, France.

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January 2005

Xeroderma pigmentosum: from symptoms and genetics to gene-based skin therapy.

Cells Tissues Organs 2004 ;177(3):189-98

Laboratory of Genetic Instability and Cancer, CNRS UPR2169, Institut Gustave Roussy, Villejuif, France.

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March 2005

DNA repair gene XRCC2 and XRCC3 polymorphisms and susceptibility to cancers of the upper aerodigestive tract.

Int J Cancer 2004 Dec;112(5):901-4

INSERM and Evry University, EMI 00-06, Statistical Methods and Genetic Epidemiology of Multifactorial Diseases, Evry, France.

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December 2004

Reconstruction of DNA repair-deficient xeroderma pigmentosum skin in vitro: a model to study hypersensitivity to UV light.

Photochem Photobiol 2005 Jan-Feb;81(1):19-24

L'Oréal, Life Sciences Research, Centre C. Zviak, 90 Rue du général Roguet, 92583 Clichy cedex, France.

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June 2005

Irofulven cytotoxicity depends on transcription-coupled nucleotide excision repair and is correlated with XPG expression in solid tumor cells.

Clin Cancer Res 2004 Aug;10(16):5604-13

Group of Biology and Pharmacogenetics of Human Tumors, Centre National de la Recherche Scientifique, UMR 8113, Institut Gustave-Roussy, Villejuif, France.

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August 2004

CPD-photolyase adenovirus-mediated gene transfer in normal and DNA-repair-deficient human cells.

J Cell Sci 2004 Jul;117(Pt 16):3579-92

Department of Microbiology, Institute of Biomedical Sciences, University of São Paulo, Av. Prof. Lineu Prestes, 1374. Ed. Biomédicas 2, São Paulo 05508-900, Brazil.

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July 2004

Ultraviolet irradiation represses PATCHED gene transcription in human epidermal keratinocytes through an activator protein-1-dependent process.

Cancer Res 2004 Apr;64(8):2699-704

Laboratory of Genetic Instability and Cancer, Centre National de la Recherche Scientifique UPR2169, Institut Gustave Roussy, Villejuif Cedex, France.

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April 2004

Fanconi anemia C gene product regulates expression of genes involved in differentiation and inflammation.

Oncogene 2004 Jun;23(29):5004-13

UPR2169 CNRS, Institut Gustave Roussy, 39, rue Camille Desmoulins, 94805 Villejuif cedex, France.

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June 2004

Differential repair of the two major UV-induced photolesions in trichothiodystrophy fibroblasts.

Cancer Res 2004 Feb;64(3):889-94

Laboratory of Instability Genetic and Cancer, Centre National de la Recherche Scientifique, Institut Gustave Roussy, Villejuif, France.

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February 2004

Transcription-coupled repair of 8-oxoguanine in human cells and its deficiency in some DNA repair diseases.

Biochimie 2003 Nov;85(11):1073-82

Laboratory of Genetic Instability and Cancer, UPR 2169 CNRS, Institut Gustave Roussy, PR2, 39, rue Camille-Desmoulins, 94805 Villejuif, France.

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November 2003

DNA damage and mutations induced by arachidonic acid peroxidation.

Biochemistry 2003 Dec;42(51):15036-44

Division of Molecular Biology, Beckman Research Institute of the City of Hope, 1450 East Duarte Road, Duarte, California 91010, USA.

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December 2003

Oxidative stress in cancer prone xeroderma pigmentosum fibroblasts. Real-time and single cell monitoring of superoxide and nitric oxide production with microelectrodes.

Carcinogenesis 2004 Apr 19;25(4):509-15. Epub 2003 Dec 19.

Département de Chimie, UMR CNRS 8640 'PASTEUR', Ecole Normale Supérieure, 24 rue Lhomond, F-75231 Paris Cedex 05, France.

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April 2004

Effect of cell confluence on ultraviolet light apoptotic responses in DNA repair deficient cells.

Mutat Res 2003 Nov;544(2-3):159-66

Departamento de Microbiologia, Instituto de Ciências Biomédicas, Universidade de São Paulo, Av. Prof. Lineu Prestes, 1374, Ed. Biomédicas, 2, 05508-900 Sao Paulo, SP, Brazil.

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November 2003