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: 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: 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/

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: Nicolas Dupin, Nadem Soufir, Alain Sarasin, S. Regnier, Jean-Jacques Lacapère, M.-F. Avril, G. Hetet, D. Pham, Bernard Grandchamp, André Palangié, Agnes Bourillon, Isabelle Gorin, S. Jacobelli

المصدر: British Journal of Dermatology. 159:968-973

مصطلحات موضوعية: Skin Neoplasms, Xeroderma pigmentosum, DNA Repair, Mutation, Missense, Dermatology, Biology, Gene mutation, medicine.disease_cause, White People, Frameshift mutation, Neoplasms, Multiple Primary, Exon, medicine, Humans, Missense mutation, Survivors, Frameshift Mutation, Melanoma, Pigmentation disorder, Aged, 80 and over, Genetics, Xeroderma Pigmentosum, Mutation, medicine.disease, DNA-Binding Proteins, Phenotype, Cancer research, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca0d7813ca05d2cb6a73c1d059b513d7Test
https://doi.org/10.1111/j.1365-2133.2008.08791.xTest

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

المؤلفون: Corinne Vioux, Simone Benhamou, Alain Sarasin, Emilie Warrick, Françoise Bernerd, Mathilde Fréchet, O Chevallier, Alain Spatz, Thierry Magnaldo

المصدر: Oncogene. 27:5223-5232

مصطلحات موضوعية: Premature aging, Cancer Research, Xeroderma pigmentosum, DNA Repair, Transcription, Genetic, DNA repair, Biology, medicine.disease_cause, Dermis, Genetics, medicine, Humans, Promoter Regions, Genetic, Fibroblast, Molecular Biology, Skin, Xeroderma Pigmentosum, integumentary system, Fibroblasts, medicine.disease, medicine.anatomical_structure, Cancer research, Matrix Metalloproteinase 1, Skin cancer, Reactive Oxygen Species, Carcinogenesis, Nucleotide excision repair

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9aa07d9d199d650d89909bcfd2c5bc0aTest
https://doi.org/10.1038/onc.2008.153Test

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

المؤلفون: Alain Sarasin, Leela Daya-Grosjean

المصدر: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 571:43-56

مصطلحات موضوعية: Patched, Xeroderma Pigmentosum, Neoplasms, Radiation-Induced, Skin Neoplasms, Xeroderma pigmentosum, integumentary system, Oncogene, Tumor suppressor gene, Ultraviolet Rays, DNA repair, Health, Toxicology and Mutagenesis, Oncogenes, Biology, medicine.disease, medicine.disease_cause, Mutation, Genetics, medicine, Cancer research, Humans, Genes, Tumor Suppressor, Carcinogenesis, Smoothened, Molecular Biology, Nucleotide excision repair

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37175db285225464218a41f3e8eceb71Test
https://doi.org/10.1016/j.mrfmmm.2004.11.013Test

المؤلفون: Alain Sarasin, Apuã C.M. Paquola, Renata M. A. Costa, Lydia Riou, Carlos Frederico Martins Menck

المصدر: Oncogene. 24:1359-1374

مصطلحات موضوعية: Cancer Research, Xeroderma pigmentosum, DNA Repair, Transcription, Genetic, Ultraviolet Rays, DNA repair, Trichothiodystrophy, Down-Regulation, Biology, Transfection, medicine.disease_cause, Cell Line, Neoplasms, Genetics, medicine, Humans, Allele, Cockayne Syndrome, Molecular Biology, Alleles, Oligonucleotide Array Sequence Analysis, Xeroderma Pigmentosum, Gene Expression Profiling, DNA Helicases, Syndrome, Fibroblasts, Cell cycle, medicine.disease, Isogenic human disease models, Molecular biology, Up-Regulation, DNA-Binding Proteins, Mutation, Hair Diseases, Carcinogenesis, Nucleotide excision repair

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c58cbe92010a6d4bbcb6d6de777598fTest
https://doi.org/10.1038/sj.onc.1208288Test