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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: 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: 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/ -
4A 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: 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 -
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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 -
7
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 -
8
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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المصدر: Photochemistry and Photobiology. 81:19-24
مصطلحات موضوعية: Genetics, Xeroderma Pigmentosum, Xeroderma pigmentosum, DNA Repair, integumentary system, Epidermis (botany), Ultraviolet Rays, DNA repair, DNA damage, General Medicine, In Vitro Techniques, Biology, medicine.disease, Models, Biological, Molecular biology, Biochemistry, In vitro, chemistry.chemical_compound, chemistry, medicine, Humans, Physical and Theoretical Chemistry, Gene, DNA, Nucleotide excision repair
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::049b59dbb573228b4cd4310135e64b8bTest
https://doi.org/10.1111/j.1751-1097.2005.tb01517.xTest -
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المؤلفون: Anne Stary, Ning Ye Zhou, Mohammed Bouziane, Timothy R. O'Connor, Steven E. Bates, Alain Sarasin
المصدر: Journal of molecular biology, vol 332, iss 2
مصطلحات موضوعية: p53, Biochemistry & Molecular Biology, DNA, Complementary, Skin Neoplasms, Xeroderma pigmentosum, DNA Repair, Pediatric Cancer, Ultraviolet Rays, DNA damage, DNA repair, Trichothiodystrophy, Pyrimidine dimer, Biology, medicine.disease_cause, Microbiology, Cell Line, Databases, Medicinal and Biomolecular Chemistry, ligation-mediated PCR, Rare Diseases, Structural Biology, Complementary, Genetics, medicine, Humans, Molecular Biology, Gene, Cancer, Pediatric, Xeroderma Pigmentosum, Mutation, Nucleic Acid, DNA, Exons, Genetic Therapy, Fibroblasts, nucleotide excision repair, Genes, p53, medicine.disease, Molecular biology, Genes, Pyrimidine Dimers, Biochemistry and Cell Biology, Databases, Nucleic Acid, Hair Diseases, DNA Damage, Nucleotide excision repair
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adca93da876f80ff67cceddb1e3551f8Test
https://doi.org/10.1016/s0022-2836Test(03)00793-9