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المؤلفون: Leticia K. Lerner, Carlos Frederico Martins Menck, Mahwish Mian Mohammad, Alain Sarasin, Veridiana Munford, Ligia Pereira Castro, Thuy Vy Nguyen, Juliana B. Vilar, Filippo Rosselli, Said Aoufouchi, Veronique Vergé, Morwenna Le Guillou
المساهمون: Intégrité du génome et cancers (IGC), Institut Gustave Roussy (IGR)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)
المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Scientific Reports
Scientific Reports, Nature Publishing Group, 2020, 10 (1), ⟨10.1038/s41598-020-58180-7⟩
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: Adult, Xeroderma pigmentosum, Genotype, DNA polymerase, Base pair, [SDV]Life Sciences [q-bio], Immunoglobulins, Somatic hypermutation, lcsh:Medicine, Locus (genetics), DNA-Directed DNA Polymerase, Article, ANTÍGENOS, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Genetics research, Immunogenetics, medicine, Humans, lcsh:Science, Gene, Alleles, Aged, Sequence Deletion, 030304 developmental biology, Aged, 80 and over, Genetics, Xeroderma Pigmentosum, 0303 health sciences, Multidisciplinary, biology, lcsh:R, Cytidine deaminase, Middle Aged, medicine.disease, Enzyme Activation, Amino Acid Substitution, Case-Control Studies, Mutation, biology.protein, lcsh:Q, France, Brazil, 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69714685788ded8e74775c696be623aaTest
http://link.springer.com/article/10.1038/s41598-020-58180-7Test -
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المؤلفون: Steve Horvath, Maria Giulia Bacalini, Claudio Franceschi, Paolo Garagnani, Claudia Chica, Miria Ricchetti, Clément Crochemore, Giovanna Lattanzi, Alain Sarasin
المساهمون: Cellules Souches et Développement / Stem Cells and Development, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Sup'Biotech, Hub Bioinformatique et Biostatistique - Bioinformatics and Biostatistics HUB, Karolinska Institutet [Stockholm], University hospital - Policlinico S.Orsola-Malpighi [Bologna, Italy], CNR Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', Istituto Ortopedico Rizzoli [Bologna, Italy], University of California (UC), Institut Gustave Roussy (IGR), Stabilité Génétique et Oncogenèse (UMR 8200), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Lobachevsky State University [Nizhni Novgorod], IRCCS Istituto delle Scienze Neurologiche di Bologna [Bologna, Italy], Ospedale Bellaria [Bologna, Italy], This work was supported by Agence Nationale de la Recherche (grant CS_AGE, aapg2019), DARRI (Institut Pasteur R&D, grant DISAGE, PasteurInnov2014), Programmes Transversales de Recherche, Institut Pasteur (grant PTR111-2017), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), University of California
مصطلحات موضوعية: Genetics, 0303 health sciences, Mutation, DNA repair, [SDV]Life Sciences [q-bio], dNaM, Biology, medicine.disease, medicine.disease_cause, Phenotype, Cockayne syndrome, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, DNA methylation, medicine, Epigenetics, 030217 neurology & neurosurgery, 030304 developmental biology, Epigenomics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dfa114c2f0f1dca63186f2f3ea92c25Test
https://doi.org/10.1101/2021.05.23.445308Test -
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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: Donata Orioli, Wim Vermeulen, Alain Sarasin, Sarah Giachetti, Silvia Bione, Jan H.J. Hoeijmakers, Anja Raams, Desirée E.C. Smith, Giuseppina Caligiuri, Marisa I. Mendes, Elena Botta, Tomoo Ogi, Arjan F. Theil, Gajja S. Salomons, Sigrid M.A. Swagemakers, Peter J. van der Spek, Luca Zardoni, Giordano Liberi, Alan R. Lehmann, Roberta Carriero
المساهمون: Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Reproduction & Development (AR&D), Molecular Genetics, Pathology, Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism
المصدر: American journal of human genetics, 105(2), 434-440. Cell Press
The American Journal of Human Genetics
American Journal of Human Genetics, 105(2), 434-440. Cell Press
Theil, A F, Botta, E, Raams, A, Smith, D E C, Mendes, M I, Caligiuri, G, Giachetti, S, Bione, S, Carriero, R, Liberi, G, Zardoni, L, Swagemakers, S M A, Salomons, G S, Sarasin, A, Lehmann, A, van der Spek, P J, Ogi, T, Hoeijmakers, J H J, Vermeulen, W & Orioli, D 2019, ' Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype ', American journal of human genetics, vol. 105, no. 2, pp. 434-440 . https://doi.org/10.1016/j.ajhg.2019.06.017Testمصطلحات موضوعية: Trichothiodystrophy, Sequence Homology, Biology, Compound heterozygosity, 03 medical and health sciences, Transcription (biology), Report, Genetics, medicine, Threonine-tRNA Ligase, Humans, Trichothiodystrophy Syndromes, Amino Acid Sequence, Allele, Transcription factor, Gene, Genetics (clinical), Alleles, 030304 developmental biology, 0303 health sciences, General transcription factor, 030305 genetics & heredity, medicine.disease, Phenotype, Case-Control Studies, Mutation, Transcription factor II H, Hair Diseases, Transcription Factor TFIIH
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abe0636d65852d8e8df136ce912eec33Test
https://research.vumc.nl/en/publications/0c06edec-9ffe-44a6-b2a0-649bde87a288Test -
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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: Sandra Weller, Anne Stary, Claude-Agnès Reynaud, Alain Sarasin, Jean-Claude Weill, Said Aoufouchi, Ahmad Faili, Françoise Vuillier
المساهمون: Ribierre, Hélène, Développement du Systeme Immunitaire, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Immuno-Hématologie et Immunopathologie, Institut Pasteur [Paris] (IP), Etude des relations instabilité génétique et cancer (ERIGC), Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris], Université Paris Descartes - Paris 5 (UPD5) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Centre National de la Recherche Scientifique (CNRS)
المصدر: Journal of Experimental Medicine
Journal of Experimental Medicine, 2004, 199 (2), pp.265-70. ⟨10.1084/jem.20031831⟩
Journal of Experimental Medicine, Rockefeller University Press, 2004, 199 (2), pp.265-70. ⟨10.1084/jem.20031831⟩
The Journal of Experimental Medecine
The Journal of Experimental Medecine, The Rockefeller University Press, 2004, 199 (2), pp.265-70. 〈10.1084/jem.20031831〉
The Journal of Experimental Medicineمصطلحات موضوعية: MESH: Introns, DNA polymerase, DNA Mutational Analysis, DNA-Directed DNA Polymerase, MESH: Base Sequence, Gene mutation, Cytosine Deaminase, translesional DNA polymerases, 0302 clinical medicine, MESH: DNA-Directed DNA Polymerase, Immunology and Allergy, somatic mutation, MESH: DNA Mutational Analysis, Polymerase, Recombination, Genetic, [SDV.MP.VIR] Life Sciences [q-bio]/Microbiology and Parasitology/Virology, Genetics, B-Lymphocytes, 0303 health sciences, MESH: Middle Aged, biology, MESH: DNA, Cytidine deaminase, Middle Aged, MESH: Immunoglobulin Class Switching, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, MESH: Immunologic Memory, Female, MESH: Recombination, Genetic, Adult, MESH: DNA Primers, MESH: Somatic Hypermutation, Immunoglobulin, Molecular Sequence Data, Immunology, xeroderma pigmentosum variant syndrome, Somatic hypermutation, Article, Immunoglobulin Class Switch Recombination, 03 medical and health sciences, Tandem repeat, Cytidine Deaminase, MESH: B-Lymphocytes, Humans, DNA Primers, MESH: Xeroderma Pigmentosum, MESH: Cytidine Deaminase, 030304 developmental biology, Xeroderma Pigmentosum, MESH: Humans, MESH: Molecular Sequence Data, Base Sequence, MESH: Cytosine Deaminase, MESH: Adult, DNA, Immunoglobulin Class Switching, Molecular biology, Introns, Immunoglobulin class switching, pol η, biology.protein, Somatic Hypermutation, Immunoglobulin, Immunologic Memory, MESH: Female, 030215 immunology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43782f0cda1bfdfaf99eb0f99969e78cTest
https://doi.org/10.1084/jem.20031831Test -
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المؤلفون: Giuseppina Giglia-Mari, Alain Sarasin
المصدر: Experimental Dermatology. 11:44-47
مصطلحات موضوعية: Genetics, 0303 health sciences, education.field_of_study, Mutation, Xeroderma pigmentosum, Mutation Spectra, integumentary system, Population, Human skin, Dermatology, Gene mutation, Biology, medicine.disease, medicine.disease_cause, Biochemistry, 3. Good health, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, medicine, Skin cancer, education, Molecular Biology, Gene, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ed8c78888e5da8b1fa04ccc6050499c0Test
https://doi.org/10.1034/j.1600-0625.11.s.1.11.xTest