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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: 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 -
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المؤلفون: Alain Sarasin, Carlos Frederico Martins Menck, Ricardo Weinlich, Vanessa Chiganças, Gustavo P. Amarante-Mendes, Gabriela Brumatti, Renata M. A. Costa, Helotonio Carvalho
المصدر: Mutation Research/Reviews in Mutation Research. 544:159-166
مصطلحات موضوعية: Xeroderma pigmentosum, DNA Repair, Transcription, Genetic, Ultraviolet Rays, DNA damage, DNA repair, Health, Toxicology and Mutagenesis, Apoptosis, Pyrimidine dimer, Biology, Genetics, Ultraviolet light, medicine, Humans, Cockayne Syndrome, Cells, Cultured, Skin, Xeroderma Pigmentosum, Confluency, Fibroblasts, medicine.disease, Cell biology, Kinetics, Biochemistry, UVB-induced apoptosis, Cell Division, DNA Damage, HeLa Cells
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a3e98bc66c655cf7e60f4af65e00f36Test
https://doi.org/10.1016/j.mrrev.2003.06.004Test -
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المؤلفون: Anne Stary, Alain Sarasin, Osamu Nikaido, Mauro Mezzina, Lin Zeng, Alain Taieb, Lydia Riou, Odile Chevallier-Lagente, Geert Weeda
المساهمون: Molecular Genetics
المصدر: Human Molecular Genetics, 8(6), 1125-1133. Oxford University Press
مصطلحات موضوعية: Male, DNA, Complementary, Xeroderma pigmentosum, DNA Repair, Ultraviolet Rays, DNA repair, Recombinant Fusion Proteins, Trichothiodystrophy, Biology, Transfection, medicine.disease_cause, Cockayne syndrome, Genetics, medicine, Humans, Child, Cockayne Syndrome, Molecular Biology, Gene, Genetics (clinical), Cell Line, Transformed, Xeroderma Pigmentosum, Mutation, DNA Helicases, DNA, General Medicine, Middle Aged, medicine.disease, Molecular biology, DNA-Binding Proteins, Gene Expression Regulation, Pyrimidine Dimers, Child, Preschool, Transcription factor II H, Hair Diseases, Nucleotide excision repair
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11fa342c74773d11cce7fb4f217de4ecTest
https://doi.org/10.1093/hmg/8.6.1125Test -
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المؤلفون: Alain Sarasin, Tiziana Nardo, Veridiana Munford, Fernanda C. Cabral, Carlos Frederico Martins Menck, Clarissa Ribeiro Reily Rocha, Januário B. Cabral-Neto, Daniela T. Soltys, Miria Stefanini, Leticia K. Lerner, Tiago Antonio de Souza
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: Male, Heterozygote, Xeroderma pigmentosum, Adolescent, DNA Repair, DNA repair, DNA damage, Cell Survival, Protein Conformation, Ultraviolet Rays, Molecular Sequence Data, Mutation, Missense, Biology, medicine.disease_cause, Cockayne syndrome, Cell Line, Young Adult, Genotype, Genetics, medicine, Humans, Amino Acid Sequence, Cloning, Molecular, Cockayne Syndrome, Gene, Genetics (clinical), Alleles, Mutation, Xeroderma Pigmentosum, Nuclear Proteins, MICROBIOLOGIA, Sequence Analysis, DNA, Fibroblasts, medicine.disease, Endonucleases, Molecular biology, DNA-Binding Proteins, Oxidative Stress, Phenotype, Female, Sequence Alignment, Brazil, Nucleotide excision repair, DNA Damage, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::074273beee3a518622375203fb9573ecTest
https://pubmed.ncbi.nlm.nih.gov/23255472Test -
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المؤلفون: Hélène Dollfus, Victoria Murday, Pierre Sarda, E. Raffo, Patrick Edery, Alain Sarasin, Jacqueline Vigneron, D. Gubser-Mercati, Andrew R. Gennery, Karen Fieggen, Vincent Laugel, Valérie Drouin-Garraud, F. Sauvanaud, Dominique Martin-Coignard, Hubert Journel, Louise Brueton, John Tolmie, Marie-Claire Vincent, Alan R. Lehmann, Delphine Héron, Benoît Funalot, Stanislas Lyonnet, D. Pham, Jean-Marc Egly, Mustafa A. Salih, Sylvie Odent, U. Kristensen, E. Muñoz, Agnès Bloch-Zupan, Heather Fawcett, Edward S. Tobias, J. Sanchez del Pozo, Blanca Gener, Brigitte Chabrol, Lina M. Ramos, M. Durand, Cecile Dalloz, Zornitza Stark, K. Prescott, Laurent Pasquier, Mehrdad Noruzinia, Valérie Cormier-Daire
المساهمون: Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de diagnostic génétique, CHU Strasbourg, Laboratoire de génétique moléculaire et génomique médicale [CHU Rennes], CHU Pontchaillou [Rennes], Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department of Medical Genetics, Hospital de Cruces, Division of Developmental Medicine, Royal Hospital for Sick Children, Service de génétique, Centre Hospitalier Le Mans (CH Le Mans), Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Génétique Médicale, Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA)-Hôpital Chubert, Service de Pédiatrie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Consultation de Génétique, Neurologie Pédiatrique, Hôpital neuchâtelois, Service de Neurologie [CHU Limoges], CHU Limoges, Biomolécules Thérapies anti-tumorales (EA4021), Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503), Department of Clinical Genetics, Birmingham Women's Hospital, Centro de Biología Molecular Severo Ochoa [Madrid] (CBMSO), Universidad Autónoma de Madrid (UAM)-Consejo Superior de Investigaciones Científicas [Madrid] (CSIC), Department Neurology, Hospital Clinic, Department of Pediatrics, Newcastle General Hospital, Division of Pediatric Neurology, King Saud University [Riyadh] (KSU), Department of Hematology, Tarbiat Modares University [Tehran], St James's University Hospital, Pediatric Hospital, Genetic Health Services Victoria, Groote Schuur and Red Cross Children's Hospital, Service de pédiatrie et neurologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Unité de Génétique Médicale et Foetopathologie, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Service de Génétique, Hospices Civils de Lyon (HCL), Reference Centre for Oral Manifestations of Rare Diseases, Hôpitaux Universitaires de Strasbourg, Centre for Genome Damage and Stability, University of Sussex, Génomes et cancer (GC (FRE2939)), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Institut de génétique et biologie moléculaire et cellulaire ( IGBMC ), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Laboratoire de Génétique Moléculaire et Hormonologie, Hôpital Pontchaillou, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], CH Le Mans, CHU Rouen-Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Centre Hospitalier Bretagne Atlantique-Hôpital Chubert, Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Biomolécules Thérapies anti-tumorales ( EA4021 ), Université de Limoges ( UNILIM ) -Génomique, Environnement, Immunité, Santé, Thérapeutique ( GEIST FR CNRS 3503 ), Centro de Biología Molecular Severo Ochoa ( CBMSO ), Universidad Autonoma de Madrid ( UAM ) -Consejo Superior de Investigaciones Científicas [Spain] ( CSIC ), King Saud University [Riyadh] ( KSU ), Tarbiat Modares University, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ) -Hôpital Arnaud de Villeneuve, Hospices Civils de Lyon ( HCL ), Génomes et cancer ( GC (FRE2939) ), Université Paris-Sud - Paris 11 ( UP11 ) -Institut Gustave Roussy ( IGR ) -Centre National de la Recherche Scientifique ( CNRS ), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Universidad Autonoma de Madrid (UAM)-Consejo Superior de Investigaciones Científicas [Madrid] (CSIC), De Villemeur, Hervé
المصدر: Human Mutation
Human Mutation, 2010, 31 (2), pp.113-26. ⟨10.1002/humu.21154⟩
Human Mutation, Wiley, 2010, 31 (2), pp.113-26. 〈10.1002/humu.21154〉
Human Mutation, Wiley, 2010, 31 (2), pp.113-26. ⟨10.1002/humu.21154⟩مصطلحات موضوعية: Molecular Sequence Data, Prenatal diagnosis, [SDV.GEN] Life Sciences [q-bio]/Genetics, Biology, medicine.disease_cause, Bioinformatics, Cockayne syndrome, 03 medical and health sciences, Structure-Activity Relationship, 0302 clinical medicine, [SDV.BDD] Life Sciences [q-bio]/Development Biology, Databases, Genetic, Genetics, medicine, Missense mutation, Coding region, Humans, Amino Acid Sequence, [ SDV.BDD ] Life Sciences [q-bio]/Development Biology, Cockayne Syndrome, Poly-ADP-Ribose Binding Proteins, Gene, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Mutation, [SDV.GEN]Life Sciences [q-bio]/Genetics, Polymorphism, Genetic, DNA Helicases, medicine.disease, 3. Good health, ERCC8, DNA Repair Enzymes, ERCC6, [ SDV.GEN ] Life Sciences [q-bio]/Genetics, Sequence Alignment, 030217 neurology & neurosurgery, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::580207dd2444c2f96378e05a74ec87caTest
https://www.hal.inserm.fr/inserm-00436454Test -
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المؤلفون: Michel Renouil, Cecile Dalloz, Renier Vélez-Cruz, Vincent Laugel, Alain Sarasin, Alain Fourmaintraux, Hélène Dollfus, Isabelle Desguerre, Valérie Cormier-Daire, Anne Stary, Jean-Marc Egly
المساهمون: Etude des relations instabilité génétique et cancer ( ERIGC ), Centre National de la Recherche Scientifique ( CNRS ), Handicaps génétiques de l'enfant ( Inserm U393 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Institut de génétique et biologie moléculaire et cellulaire ( IGBMC ), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -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 ), Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Etude des relations instabilité génétique et cancer (ERIGC), Centre National de la Recherche Scientifique (CNRS), Handicaps génétiques de l'enfant (Inserm U393), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-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), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2008, 16 (3), pp.320-7. 〈10.1038/sj.ejhg.5201991〉
European Journal of Human Genetics, Nature Publishing Group, 2008, 16 (3), pp.320-7. ⟨10.1038/sj.ejhg.5201991⟩مصطلحات موضوعية: Microcephaly, [SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT], DNA repair, Nonsense mutation, Biology, Polymerase Chain Reaction, Cockayne syndrome, 03 medical and health sciences, Exon, 0302 clinical medicine, Genetics, medicine, Humans, RNA, Messenger, [ SDV.OT ] Life Sciences [q-bio]/Other [q-bio.OT], Cockayne Syndrome, Poly-ADP-Ribose Binding Proteins, Gene, Genetics (clinical), Sequence Deletion, 030304 developmental biology, 0303 health sciences, DNA Helicases, Infant, Newborn, Brain, Infant, medicine.disease, Magnetic Resonance Imaging, 3. Good health, Complementation, genomic DNA, DNA Repair Enzymes, Female, 030217 neurology & neurosurgery, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4855b54cd9fceaf7fe045f79a9d2a44Test
https://hal.archives-ouvertes.fr/hal-00281484Test -
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المؤلفون: Alain Sarasin, Jacques Armier, Manuela Pastoriza-Gallego
المصدر: Mutagenesis. 22(5)
مصطلحات موضوعية: Guanine, DNA Repair, Transcription, Genetic, DNA repair, Health, Toxicology and Mutagenesis, Biology, Toxicology, Cockayne syndrome, Cell Line, DNA Glycosylases, Mice, Shuttle vector, Transcription (biology), Gene expression, Genetics, medicine, Animals, Luciferase, Cockayne Syndrome, Luciferases, Poly-ADP-Ribose Binding Proteins, Promoter Regions, Genetic, Genetics (clinical), Mice, Knockout, Bacteria, Base Sequence, Mutagenicity Tests, Promoter, Transfection, Fibroblasts, medicine.disease, Embryo, Mammalian, Molecular biology, DNA Repair Enzymes, Mutagenesis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::046ea5758a98f4a55b8ad9d3aa6a60d1Test
https://pubmed.ncbi.nlm.nih.gov/17630408Test -
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المؤلفون: Alain Sarasin, Anne Stary
المصدر: DNA repair. 6(2)
مصطلحات موضوعية: DNA Repair, Transcription, Genetic, RNA polymerase II, Computational biology, Biochemistry, Models, Biological, Cockayne syndrome, Chromatin remodeling, chemistry.chemical_compound, medicine, Humans, Cockayne Syndrome, Molecular Biology, Gene, Genetics, biology, T-cell receptor, Cell Biology, medicine.disease, genomic DNA, chemistry, biology.protein, RNA Polymerase II, DNA, Nucleotide excision repair, DNA Damage, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06a542d0a51a2eec431b2cb12a685449Test
https://pubmed.ncbi.nlm.nih.gov/17194629Test