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المؤلفون: Valquiria Tiago dos Santos, Carlos Frederico Martins Menck, Clarissa Ribeiro Reily Rocha, Veridiana Munford, Leticia K. Lerner, Daniela T. Soltys, Camila Carrião Machado Garcia, Alain Sarasin, Natália Cestari Moreno
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: Xeroderma pigmentosum, DNA Repair, Cell Survival, Ultraviolet Rays, DNA repair, DNA damage, Health, Toxicology and Mutagenesis, Trichothiodystrophy, Toxicology, Host-Cell Reactivation, Cockayne syndrome, Cell Line, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Genetics (clinical), Xeroderma Pigmentosum Group D Protein, 030304 developmental biology, 0303 health sciences, PLASMÍDEOS, Chemistry, Dose-Response Relationship, Radiation, Cell Cycle Checkpoints, Fibroblasts, Flow Cytometry, medicine.disease, Molecular biology, Oxidative Stress, 030220 oncology & carcinogenesis, Mutation, ERCC2, Comet Assay, Biomarkers, DNA Damage, Nucleotide excision repair
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afe6d0d8da24f60236ebea9960f26778Test
https://doi.org/10.1093/mutage/gez020Test -
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المؤلفون: Alain Sarasin, Cécile Ged, Said Aoufouchi, Caroline Pouvelle, Armando M. De Palma, Marie-Anne Morren, Alain Taieb
المصدر: American Journal of Medical Genetics Part A. 173:2511-2516
مصطلحات موضوعية: Male, 0301 basic medicine, Skin Neoplasms, Xeroderma pigmentosum, Adolescent, DNA Repair, DNA polymerase, Sunburn, Somatic hypermutation, Pyrimidine dimer, DNA-Directed DNA Polymerase, medicine.disease_cause, Compound heterozygosity, 03 medical and health sciences, Exon, 0302 clinical medicine, Genetics, medicine, Humans, Genetics (clinical), Polymerase, Xeroderma Pigmentosum, Mutation, biology, Fibroblasts, medicine.disease, Molecular biology, 030104 developmental biology, 030220 oncology & carcinogenesis, Sunlight, biology.protein, DNA Damage
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::127a0f3490f57fef384a9976a815b303Test
https://doi.org/10.1002/ajmg.a.38340Test -
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المؤلفون: Nathalie Droin, Alain Sarasin, Jean-Luc Schmutz, Stéphane de Botton, Samuel Quentin, Anna Raimbault, Filippo Rosselli, Alain Taieb, Véronique Saada, Vahid Asnafi, Jean Soulier, Yannick Boursin, Philippe Dessen, Patricia Kannouche, Thierry Leblanc, Nathalie Auger, Caroline Robert, Flore Sicre de Fontbrune, Mourad Sahbatou, Laurianne Drieu La Rochelle, Marie Sebert, Carlos Frederico Martins Menck, Eric Solary
المساهمون: Génomes et cancer (GC (FRE2939)), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Genetique et Biotherapies des Maladies Degeneratives et Proliferatives du Systeme Nerveux (Inserm U745), Institut des sciences du Médicament -Toxicologie - Chimie - Environnement (IFR71), Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Bourgogne (UB), Fondation Jean Dausset CEPH, Laboratory of Hematology, Gustave Roussy, Villejuif, Praxiling (Praxiling), Centre National de la Recherche Scientifique (CNRS)-Université Paul-Valéry - Montpellier 3 (UPVM), Plateforme de Bioinformatique [Gustave Roussy], Analyse moléculaire, modélisation et imagerie de la maladie cancéreuse (AMMICa), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hématopoïèse normale et pathologique (U1170 Inserm), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Service de Dermatologie et Allergologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Universidade de Sao Paulo, Institute of Biomedical Sciences, Universidade de São Paulo (USP)-Institute of Biomedical Sciences (ICB/USP), Universidade de São Paulo (USP), Stabilité Génétique et Oncogenèse (UMR 8200), Hematopoïèse et Cellules Souches (U362), Institut Gustave Roussy (IGR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Saint-Louis, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Service d'hématologie et immunologie pédiatrique, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Gustave Roussy (IGR), Radiothérapie moléculaire (UMR 1030), Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Gustave Roussy (IGR)-Université Paris-Sud - Paris 11 (UP11), 3UMR728 INSERM Unité d'immuno-hématologie (UIH) and laboratoire d'hématologie, Hôpital St-Louis, AP-HP, Centre National de la Recherche Scientifique (CNRS), Unité d'Hémato-Immunologie pédiatrique [Hôpital Robert Debré, Paris], Service d'Immuno-hématologie pédiatrique [Hôpital Robert Debré, Paris], Hôpital Robert Debré-Hôpital Robert Debré, Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris- Chimie ParisTech-PSL (ENSCP)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris- Chimie ParisTech-PSL (ENSCP)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Praxiling UMR 5267 (Praxiling), Université Paul-Valéry - Montpellier 3 (UM3)-Centre National de la Recherche Scientifique (CNRS), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)
المصدر: Blood
Blood, American Society of Hematology, 2019, 133 (25), pp.2718-2724. ⟨10.1182/blood-2019-01-895698⟩مصطلحات موضوعية: 0301 basic medicine, Xeroderma pigmentosum, DNA repair, [SDV]Life Sciences [q-bio], Immunology, medicine.disease_cause, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Complex Karyotype, Familial predisposition, medicine, Letter to Blood, Gene, ComputingMilieux_MISCELLANEOUS, Genetics, Mutation, business.industry, Cell Biology, Hematology, medicine.disease, 3. Good health, Leukemia, 030104 developmental biology, 030220 oncology & carcinogenesis, business, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::add0762cffd6a08b0e0092c60c21e1d6Test
https://europepmc.org/articles/PMC6610036Test/ -
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المؤلفون: Ligia Pereira Castro, Vanesa Gottifredi, Alain Sarasin, Alexandre T. Vessoni, Guilherme Francisco, Silvina Odete Bustos, Annabel Quinet, Daniela T. Soltys, Roger Chammas, Taynah I.P. David, Leticia K. Lerner, Bryan E. Strauss, Carlos Frederico Martins Menck, Anne Stary, Clarissa Ribeiro Reily Rocha
المساهمون: University of São Paulo (USP), Instituto do Câncer do Estado = Cancer Institute of the State of São Paulo (ICESP), Institute of Chemistry [University of São Paulo] | Instituto de Química [Universidade de São Paulo], Fundación Instituto Leloir [Buenos Aires], Intégrité du génome et cancers (IGC), Institut Gustave Roussy (IGR)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Nucleic Acids Research
Nucleic Acids Research, Oxford University Press, 2017, 45 (3), pp.1270-1280. ⟨10.1093/nar/gkw1196⟩
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICETمصطلحات موضوعية: 0301 basic medicine, p53, DNA Repair, MESH: DNA Replication, DNA polymerase eta, DNA-Directed DNA Polymerase, Genome Integrity, Repair and Replication, purl.org/becyt/ford/1 [https], 0302 clinical medicine, FIBROBLASTOS, MESH: DNA-Directed DNA Polymerase, SOS response, MESH: Tumor Suppressor Protein p53, Polymerase, MESH: DNA Repair, biology, MESH: DNA, Cell cycle, MESH: Gene Expression Regulation, Chromatin, TRANLESION DNA SYNTHESIS, MESH: Cell Survival, 030220 oncology & carcinogenesis, CIENCIAS NATURALES Y EXACTAS, DNA Replication, DNA damage, Cell Survival, Ultraviolet Rays, Otras Ciencias Biológicas, [SDV.CAN]Life Sciences [q-bio]/Cancer, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Cell Line, MESH: Chromatin, Ciencias Biológicas, 03 medical and health sciences, parasitic diseases, MESH: Dose-Response Relationship, Radiation, Genetics, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, purl.org/becyt/ford/1.6 [https], MESH: Humans, DNA synthesis, Dose-Response Relationship, Radiation, DNA, SOS RESPONSE, Fibroblasts, Molecular biology, MESH: Cell Line, 030104 developmental biology, Gene Expression Regulation, MESH: Fibroblasts, biology.protein, MESH: Ultraviolet Rays, Tumor Suppressor Protein p53, Nucleotide excision repair
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c632e78bf42211a64ddaf21fcf039d4Test
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5A genetic cluster of patients with variant xeroderma pigmentosum with two diferent founder mutations
المؤلفون: Alain Sarasin, L. M.S. Moura, Huma Asif, Carolina Quayle, F.I.A. Alves, Pedro A. F. Galante, J. B. Vilar, Ricardo Aparecido de Souto, Leticia K. Lerner, T.A. de Souza, Ligia Pereira Castro, Carlos Frederico Martins Menck, S.C. Chaibub, Anamaria A. Camargo, Susan Ienne, Sérgio D.J. Pena, R. Liboredo, André Passaglia Schuch, Veridiana Munford
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: 0301 basic medicine, Adult, Male, Heterozygote, Xeroderma pigmentosum, Skin Neoplasms, DNA repair, Dermatology, Gene mutation, Biology, medicine.disease_cause, 03 medical and health sciences, Exon, 0302 clinical medicine, medicine, Tumor Cells, Cultured, Humans, Allele, Gene, Aged, Genetics, Aged, 80 and over, Mutation, Xeroderma Pigmentosum, GENÉTICA MICROBIANA, Homozygote, Middle Aged, medicine.disease, Molecular biology, Founder Effect, Pedigree, Europe, 030104 developmental biology, 030220 oncology & carcinogenesis, Female, Brazil, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6528130994ecac021ff11df8f16a9e0eTest
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المؤلفون: Alain Sarasin, Endre Anderssen, Valerie Gaborieau, Simone Benhamou, Andres Metspalu, Maiken Bratt Elvestad, John R. McLaughlin, Mark Lathrop, Hans E. Krokan, Marie-Claude Babron, Kristjan Välk, Tõnu Vooder, Rayjean J. Hung, Rémi Kazma, Emmanuelle Génin, John K. Field, Frank Skorpen, Paul Brennan
المصدر: Carcinogenesis. 33:1059-1064
مصطلحات موضوعية: Adult, Male, Cancer Research, Lung Neoplasms, DNA Repair, DNA polymerase, DNA repair, Adenocarcinoma of Lung, Cell Cycle Proteins, Single-nucleotide polymorphism, Genome-wide association study, Adenocarcinoma, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, medicine, Humans, Genetic Predisposition to Disease, Gene, Cancer Biomarkers and Molecular Epidemiology, 030304 developmental biology, Genetics, 0303 health sciences, biology, Smoking, Cancer, General Medicine, Middle Aged, medicine.disease, 3. Good health, Chromatin, Case-Control Studies, 030220 oncology & carcinogenesis, Carcinoma, Squamous Cell, biology.protein, Female, Homologous recombination, Genome-Wide Association Study, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fd387b14a296d3f2feef6cb6d4d25cbTest
https://doi.org/10.1093/carcin/bgs116Test -
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المؤلفون: Jean-Claude Weill, Alain Sarasin, Claude-Agnès Reynaud, Anne Stary, Said Aoufouchi, Ahmad Faili, Quentin Gueranger
المصدر: DNA Repair. 7:1551-1562
مصطلحات موضوعية: DNA Repair, Cell Survival, Ultraviolet Rays, DNA repair, DNA polymerase, DNA damage, viruses, Context (language use), DNA-Directed DNA Polymerase, Transfection, medicine.disease_cause, Radiation Tolerance, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Shuttle vector, Cell Line, Tumor, medicine, Humans, Molecular Biology, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, biology, Mutagenesis, Cell Biology, Molecular biology, 030220 oncology & carcinogenesis, DNA Polymerase iota, biology.protein, Homologous recombination, DNA Damage
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18972947513ff854494878869cc972faTest
https://doi.org/10.1016/j.dnarep.2008.05.012Test -
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المؤلفون: Alain Sarasin, Marion Monet, Simone Benhamou, Stefan Michiels, T. Boulet, Mark Lathrop, Cécile Pignat, Christine Bouchardy, Philippe Dessen, Patrick Danoy
المصدر: International Journal of Cancer. 123:457-463
مصطلحات موضوعية: Genetics, 0303 health sciences, Cancer Research, DNA repair, DNA damage, Haplotype, Cancer, Biology, medicine.disease, 3. Good health, 03 medical and health sciences, Exon, 0302 clinical medicine, Oncology, 030220 oncology & carcinogenesis, Genotype, medicine, Lung cancer, Gene, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::261f52fbbd0c40f14053a202ade6b033Test
https://doi.org/10.1002/ijc.23524Test -
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المؤلفون: J. J. Van Den Oord, Filippo Rosselli, Alain Spatz, Audrey Kauffmann, Philippe Dessen, Vladimir Lazar, V. Winnepenninckx, Alain Sarasin, A Mansuet-Lupo
المساهمون: Génomes et cancer (GC (FRE2939)), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Génétique Oncologique, Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Département de biologie et pathologie médicales [Gustave Roussy], Institut Gustave Roussy (IGR), Etude des relations instabilité génétique et cancer (ERIGC), Centre National de la Recherche Scientifique (CNRS)
المصدر: Oncogene
Oncogene, Nature Publishing Group, 2008, 27 (5), pp.565-73. ⟨10.1038/sj.onc.1210700⟩مصطلحات موضوعية: [SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT], Cancer Research, Skin Neoplasms, DNA Repair, MESH: Melanoma, DNA repair, Biology, medicine.disease_cause, Metastasis, MESH: Gene Expression Profiling, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Melanoma, Molecular Biology, Gene, 030304 developmental biology, MESH: DNA Repair, 0303 health sciences, MESH: Humans, Gene Expression Profiling, MESH: Skin Neoplasms, DNA replication, Cancer, MESH: Gene Expression Regulation, Neoplastic, medicine.disease, 3. Good health, Gene Expression Regulation, Neoplastic, Gene expression profiling, Cell Transformation, Neoplastic, MESH: Cell Transformation, Neoplastic, 030220 oncology & carcinogenesis, Cancer research, Carcinogenesis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b9648ba6fe112ab1050f7c460e27fd6Test
https://doi.org/10.1038/sj.onc.1210700Test -
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المؤلفون: Audrey Kauffmann, Alain Sarasin
المساهمون: Etude des relations instabilité génétique et cancer (ERIGC), Centre National de la Recherche Scientifique (CNRS), Génomes et cancer (GC (FRE2939)), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS)
المصدر: Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis
Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis, Elsevier, 2008, epub ahead of print. ⟨10.1016/j.mrrev.2007.12.002⟩مصطلحات موضوعية: Risk, [SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT], Xeroderma pigmentosum, DNA Repair, DNA repair, Health, Toxicology and Mutagenesis, Biology, medicine.disease_cause, Models, Biological, Metastasis, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Epigenetics, Neoplasm Metastasis, Melanoma, 030304 developmental biology, Regulation of gene expression, 0303 health sciences, Gene Expression Profiling, medicine.disease, DNA Repair-Deficiency Disorders, 3. Good health, Gene expression profiling, Gene Expression Regulation, Neoplastic, 030220 oncology & carcinogenesis, Cancer cell, Cancer research, Carcinogenesis, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0afd77d7aaa5bb78dc1636ff6aa5fac2Test
https://pubmed.ncbi.nlm.nih.gov/18308619Test