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:USP

مصطلحات 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

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: 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.2019.06.017Test

مصطلحات 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

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: Denis Biard, Alexandre T. Vessoni, Annabel Quinet, Alain Sarasin, Davi Jardim Martins, Carlos Frederico Martins Menck, Anne Stary

المساهمون: Universidade de São Paulo = University of São Paulo (USP), Institut de Radiobiologie Cellulaire et Moléculaire (IRCM), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Intégrité du génome et cancers (IGC), École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut Gustave Roussy (IGR)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), University of São Paulo (USP), Stabilité Génétique et Oncogenèse (UMR 8200), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Nucleic Acids Research
Nucleic Acids Research, 2016, 44 (12), pp.5717-5731. ⟨10.1093/nar/gkw280⟩
Nucleic Acids Research, Oxford University Press, 2016, 44 (12), pp.5717-5731. ⟨10.1093/nar/gkw280⟩

مصطلحات موضوعية: DNA Replication, 0301 basic medicine, MESH: Human Cells, DNA Repair, Ultraviolet Rays, DNA repair, DNA polymerase, DNA damage, MESH: DNA Lesion, Genetic Vectors, DNA, Single-Stranded, Pyrimidine dimer, [SDV.CAN]Life Sciences [q-bio]/Cancer, DNA-Directed DNA Polymerase, Genome Integrity, Repair and Replication, Adenoviridae, S Phase, 03 medical and health sciences, Transduction, Genetic, Genetics, Postreplication repair, Humans, Cell Line, Transformed, MESH: Xeroderma Pigmentosum, MESH: DNA Damage, MESH: Translesion Synthesis, biology, Genome, Human, DNA replication, Nuclear Proteins, MESH: Ultraviolet, Fibroblasts, DNA Replication Fork, Nucleotidyltransferases, Cell biology, DNA-Binding Proteins, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Pyrimidine Dimers, biology.protein, REV1, MESH: Coronary Disease, Deoxyribodipyrimidine Photo-Lyase, DNA Damage

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5b6b3e6c5f04e7774ad3693216e7f7bTest
https://hal.science/hal-03679922/documentTest