المؤلفون: Ligia Pereira Castro, Danilo Batista-Vieira, Tiago Antonio de Souza, Ana Rafaela de Souza Timoteo, Jessica Dayanna Landivar Coutinho, Isabel Cristina Pinheiro de Almeida, Sheila Ramos de Miranda Henriques, Fabio Medeiros de Azevedo, Reginaldo Cruz Alves Rosa, Patricia L Kannouche, Alain Sarasin, Carlos Frederico Martins Menck, Tirzah Braz Petta

المصدر: Frontiers in Genetics, Vol 12 (2022)

مصطلحات موضوعية: genetic cluster, xeroderma pigmentosum, molecular diagnosis, DNA repair, skin cancer, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.784963/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/f25b319a39694d058ff782d4ec67f61eTest

المؤلفون: Alain Sarasin, Patrick Munier, François Cartault

المصدر: Genetics and Molecular Biology, Vol 43, Iss 1 suppl 1 (2019)

مصطلحات موضوعية: DNA repair deficient diseases, sun-sensitivity, Comorian Archipelago, Bantu haplogroups, XPC gene, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000200305&tlng=enTest; http://www.scielo.br/pdf/gmb/v43n1s1/1415-4757-GMB-43-1-s1-2019-0046.pdfTest; https://doaj.org/toc/1678-4685Test

الوصول الحر: https://doaj.org/article/bb997d3846654b2dbfac0948f44d8ee8Test

المؤلفون: Damien Brégeon, Paul-Antoine Peignon, Alain Sarasin

المصدر: PLoS Genetics, Vol 5, Iss 7, p e1000577 (2009)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC2708909?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test

الوصول الحر: https://doaj.org/article/dfbb324b0664483799d1ffb1abfc0724Test

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: Ligia Pereira Castro (11953538), Danilo Batista-Vieira (11953541), Tiago Antonio de Souza (11953544), Ana Rafaela de Souza Timoteo (11953547), Jessica Dayanna Landivar Coutinho (11953550), Isabel Cristina Pinheiro de Almeida (11953553), Sheila Ramos de Miranda Henriques (11953556), Fabio Medeiros de Azevedo (11953559), Reginaldo Cruz Alves Rosa (10469803), Patricia L Kannouche (11953562), Alain Sarasin (6630), Carlos Frederico Martins Menck (8778635), Tirzah Braz Petta (11953568)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, genetic cluster, xeroderma pigmentosum, molecular diagnosis, DNA repair, skin cancer

العلاقة: https://figshare.com/articles/dataset/DataSheet1_XPC_and_POLH_XPV_Genes_Mutated_in_a_Genetic_Cluster_of_Xeroderma_Pigmentosum_Patients_in_Northeast_Brazil_PDF/18516989Test

الإتاحة: https://doi.org/10.3389/fgene.2021.784963.s001Test

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: 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: 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/