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

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:USP

مصطلحات 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

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

المؤلفون: Patrick Munier, Alain Sarasin, François Cartault

المصدر: Genetics and Molecular Biology
Genetics and Molecular Biology, Vol 43, Iss 1 suppl 1 (2019)
Genetics and Molecular Biology v.43 n.1 suppl.1 2020
Sociedade Brasileira de Genética (SBG)
instacron:SBG

مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, XPC gene, Xeroderma pigmentosum, DNA repair deficient diseases, DNA repair, Population, QH426-470, Biology, 01 natural sciences, Haplogroup, Bantu haplogroups, 03 medical and health sciences, Genetics, medicine, education, Molecular Biology, Comorian Archipelago, education.field_of_study, geography, geography.geographical_feature_category, Articles, medicine.disease, 030104 developmental biology, Mutation (genetic algorithm), Archipelago, sun-sensitivity, Novel mutation, 010606 plant biology & botany, Founder effect

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6da1ce350f737007905e02a5346bdd70Test
https://pubmed.ncbi.nlm.nih.gov/31930276Test

المؤلفون: Christel Thauvin, Marie Hélène Aubriot-Lorton, Nadège Gigot, Nathalie Marle, Bernard Aral, Laurence Duplomb, Alain Sarasin, Julien Thevenon, Valeria Naim, Jean-Baptiste Rivière, Jean Benoît Courcet, Pierre Vabres, Jamal Eddin Abrid, Mariam Tajir, Laurence Faivre, Emilie Courcet-Degrolard, Siham Chafai Elalaoui, Laurent Martin, Abdelaziz Sefiani, Yannis Duffourd

المصدر: European Journal of Human Genetics. 23:957-962

مصطلحات موضوعية: Adult, Male, Skin Neoplasms, DNA Mutational Analysis, Mutation, Missense, Genes, Recessive, Consanguinity, Biology, Article, Keratoderma, Palmoplantar, Genetics, medicine, Humans, Exome, Genetic Predisposition to Disease, Genetics (clinical), Pigmentation disorder, Skin, Family Health, Siblings, Tumor Suppressor Proteins, Homozygote, Genodermatosis, Sequence Analysis, DNA, Fibroblasts, medicine.disease, Disease gene identification, Hyperpigmentation, Pedigree, Palmoplantar keratoderma, Female, Skin cancer, medicine.symptom, Skin Carcinoma, Pigmentation Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::042aa74c156bf12442e735f85464d005Test
https://doi.org/10.1038/ejhg.2014.213Test

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:CONICET

مصطلحات 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

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:USP

مصطلحات 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

المؤلفون: Emmanuelle Despras, Alain Sarasin, Jacques Armier, Nadem Soufir, Wei Yang, Christine Mateus, Caroline Pouvelle, Agnes Bourillon, Ludovic Martin, Caroline Robert, Patricia Kannouche, K. Opletalova

المصدر: Human Mutation. 35:117-128

مصطلحات موضوعية: Adult, Male, Models, Molecular, Skin Neoplasms, Xeroderma pigmentosum, DNA Repair, Genotype, Ultraviolet Rays, DNA polymerase, DNA repair, Mutation, Missense, DNA-Directed DNA Polymerase, Young Adult, Caffeine, Genetics, Carcinoma, medicine, Humans, Missense mutation, Melanoma, Gene, Cells, Cultured, Genetics (clinical), Aged, Retrospective Studies, Aged, 80 and over, Xeroderma Pigmentosum, biology, Protein Stability, Genetic Variation, Fibroblasts, Middle Aged, medicine.disease, Phenotype, Carcinoma, Basal Cell, Carcinoma, Squamous Cell, biology.protein, Female, Nucleotide excision repair

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92d8d760102d5f5331120748c3ca8780Test
https://doi.org/10.1002/humu.22462Test

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

المؤلفون: Alain Sarasin, Tomohisa Nishiwaki, Satoshi Ueno, Toshio Mori, Yin-Chang Liu, Nobuhiko Kobayashi, Aya Yamamoto, Yumiko Okahashi, Takaaki Iwamoto, Shigeki Sugiura, Makito Hirano

المصدر: DNA Repair. 7:1990-1998

مصطلحات موضوعية: Xeroderma pigmentosum, DNA Repair, Ultraviolet Rays, DNA damage, DNA repair, Trichothiodystrophy, Enzyme-Linked Immunosorbent Assay, Pyrimidine dimer, Biology, Radiation Tolerance, Biochemistry, Replication Protein A, medicine, Humans, Trichothiodystrophy Syndromes, Molecular Biology, Replication protein A, Cells, Cultured, Xeroderma Pigmentosum Group D Protein, Genetics, Xeroderma Pigmentosum, Genome, Human, Cell Biology, Fibroblasts, medicine.disease, Molecular biology, Pyrimidine Dimers, Transcription factor II H, Transcription Factor TFIIH, DNA Damage, Nucleotide excision repair

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a05b911941e1b405b22841cbf888fa1cTest
https://doi.org/10.1016/j.dnarep.2008.08.009Test