المؤلفون: Takedachi, A., Despras, E., Scaglione, S., Guérois, R., Guervilly, J., Blin, M., Audebert, S., Camoin, L., Hasanova, Z., Schertzer, M., Guille, A., Churikov, D., Callebaut, I., Naim, V., Chaffanet, M., Borg, J., Bertucci, F., Revy, P., Birnbaum, D., Londoño-Vallejo, A., Kannouche, P., Gaillard, P.

المساهمون: Fukuoka University, Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes (IPC), Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), 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), Stabilité Génétique et Oncogenèse (UMR 8200), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Dynamique de l'information génétique : bases fondamentales et cancer (DIG CANCER), Institut Curie Paris -Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut de minéralogie, de physique des matériaux et de cosmochimie (IMPMC), Muséum national d'Histoire naturelle (MNHN)-Institut de recherche pour le développement IRD : UR206-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)

المصدر: ISSN: 1545-9993.

مصطلحات موضوعية: MESH: DNA Helicases, MESH: DNA Replication, MESH: HeLa Cells, MESH: Humans, MESH: Intellectual Disability, MESH: Microcephaly, MESH: Recombinases, MESH: Transcription, Genetic, MESH: Dyskeratosis Congenita, MESH: Fanconi Anemia Complementation Group D2 Protein, MESH: Fetal Growth Retardation, MESH: Germ-Line Mutation, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], [SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunology, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32398829; hal-03079782; https://hal.science/hal-03079782Test; https://hal.science/hal-03079782/documentTest; https://hal.science/hal-03079782/file/slx4%20PH.pdfTest; PUBMED: 32398829

الإتاحة: https://doi.org/10.1038/s41594-020-0419-3Test
https://hal.science/hal-03079782Test
https://hal.science/hal-03079782/documentTest
https://hal.science/hal-03079782/file/slx4%20PH.pdfTest

المؤلفون: Guervilly, Jean-Hugues, Macé-Aimé, Gaëtane, Rosselli, Filippo

المساهمون: Génomes et cancer (GC (FRE2939)), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0964-6906.

مصطلحات موضوعية: MESH: DNA Damage, MESH: Enzyme Activation, MESH: RNA, Small Interfering, MESH: Transfection, MESH: Ubiquitination, MESH: Fanconi Anemia, MESH: Fanconi Anemia Complementation Group D2 Protein, MESH: G2 Phase, MESH: Hela Cells, MESH: Humans, MESH: Luciferases, MESH: Models, Biological, MESH: Protein Kinases, [SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/18029388; hal-00281492; https://hal.science/hal-00281492Test; PUBMED: 18029388

الإتاحة: https://doi.org/10.1093/hmg/ddm340Test
https://hal.science/hal-00281492Test

المؤلفون: Jean-Hugues Guervilly, Filippo Rosselli, Gaëtane Mace-Aime

المساهمون: Génomes et cancer (GC (FRE2939)), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2008, 17 (5), pp.679-89. ⟨10.1093/hmg/ddm340⟩

مصطلحات موضوعية: environment and public health, chemistry.chemical_compound, 0302 clinical medicine, Fanconi anemia, hemic and lymphatic diseases, MESH: RNA, Small Interfering, Monoubiquitination, RNA, Small Interfering, Luciferases, Genetics (clinical), 0303 health sciences, Lymphoblast, Fanconi Anemia Complementation Group D2 Protein, General Medicine, Cell biology, Crosstalk (biology), 030220 oncology & carcinogenesis, Phosphorylation, biological phenomena, cell phenomena, and immunity, G2 Phase, MESH: Enzyme Activation, [SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT], animal structures, DNA damage, Biology, MESH: Fanconi Anemia Complementation Group D2 Protein, Transfection, Models, Biological, 03 medical and health sciences, FANCD2, Genetics, medicine, Humans, Molecular Biology, MESH: Protein Kinases, 030304 developmental biology, MESH: DNA Damage, MESH: Humans, MESH: Transfection, MESH: Models, Biological, Ubiquitination, medicine.disease, Molecular biology, MESH: Hela Cells, Enzyme Activation, enzymes and coenzymes (carbohydrates), MESH: Fanconi Anemia, MESH: G2 Phase, Fanconi Anemia, chemistry, Checkpoint Kinase 1, MESH: Ubiquitination, MESH: Luciferases, Protein Kinases, DNA, DNA Damage, HeLa Cells

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce28722df226ddfdc4614d618673aeebTest
https://pubmed.ncbi.nlm.nih.gov/18029388Test

المؤلفون: Bouchlaka, Chiraz, Abdelhak, Sonia, Amouri, Ahlem, Ben Abid, Hela, Hadiji, Sondes, Frikha, Mounir, Ben Othman, Tarek, Amri, Fethi, Ayadi, Hammadi, Hachicha, Mongia, Rebaï, Ahmed, Saad, Ali, Dellagi, Koussay, Group, Tunisian Fanconi Anemia Study

المساهمون: Laboratoire d'Immunopathologie, Vaccinologie et Génétique Moléculaire (LVGM), Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Hôpital Universitaire Aziza Othmana [Tunis], Hedi Chaker Hospital [Sfax], Hopital Habib Bourguiba - Habib Bourguiba Hospital [Sfax], Centre National de Greffe de la Moëlle osseuse Tunis (CNGMO), Hôpital de Kairouan, Faculté de médecine - Faculty of Medicine [Sfax, Tunisie] (FMS), Université de Sfax - University of Sfax, Centre de Biotechnologie de Sfax (CBS), CHU Farhat Hached [Sousse], This work was supported by founds from the Tunisian State Secretariat for Scientific and Technological Research., We acknowledge the participation to this investigation of other members of the Tunisian Fanconi Anemia Study Group, namely Dr. L. Aissaoui, Dr. R. Belakhal, Dr. Z. Belhaj Ali, Dr. B. Meddeb, Dr. A. Hafsia, Dr. M. Elloumi, Dr. F. Fakhfakh PhD, Dr. A. Abdelkafi, Dr. L. Tordjman, Dr. F. Mellouli, Dr. S. Ladeb, Dr. A. Ben Abdeladhim, Dr. H. Sennana, Dr. H. Elghezal, Dr. H. Elomri, Dr. A. Laatiri, Dr. A. Khelif, Dr. S. Ennabli, and Dr. M. Trudi. We thank N. Labbane, S. Chakroun, and M. Ben Fadhel, for their technical assistance. We gratefully acknowledge patients and their families for their participation in this study. We thank Hans Joenje for fruitful discussion

المصدر: Journal of Human Genetics
Journal of Human Genetics, Nature Publishing Group, 2003, 48 (7), pp.352--361. ⟨10.1007/s10038-003-0037-z⟩

مصطلحات موضوعية: Male, MESH: Sequence Analysis, DNA, Time Factors, MESH: Introns, Genetic Linkage, DNA Mutational Analysis, MESH: Base Sequence, MESH: Genetic Markers, MESH: Genotype, FANCE, FANCF, Fanconi anemia, FANCG, hemic and lymphatic diseases, MESH: DNA, Complementary/metabolism, MESH: DNA Mutational Analysis, Genetics (clinical), Genetics, Fanconi Anemia Complementation Group A Protein, Homozygote, Chromosome Mapping, Exons, Disease gene identification, DNA-Binding Proteins, Phenotype, MESH: DNA-Binding Proteins, Female, MESH: Homozygote, Genetic Markers, MESH: Fanconi Anemia/genetics, Fanconi anemia, complementation group C, DNA, Complementary, Genotype, Molecular Sequence Data, MESH: Genetic Linkage, Biology, MESH: Phenotype, MESH: Polymorphism, Genetic, FANCD2, medicine, MESH: Fanconi Anemia Complementation Group A Protein, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Alleles, Family Health, MESH: Humans, MESH: Molecular Sequence Data, Polymorphism, Genetic, Base Sequence, MESH: Alleles, MESH: Time Factors, Proteins, MESH: Haplotypes, Sequence Analysis, DNA, medicine.disease, Molecular biology, MESH: Male, FANCA, Introns, Fanconi Anemia, MESH: Lod Score, MESH: Proteins/genetics, Haplotypes, MESH: Gene Deletion, Mutation, MESH: Mutation, MESH: Family Health, MESH: Microsatellite Repeats, Lod Score, MESH: Chromosome Mapping, MESH: Exons, MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Gene Deletion, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eab079aff3119a761cb31f9cdee92312Test
https://pubmed.ncbi.nlm.nih.gov/12827451Test

المؤلفون: Björkman, Andrea, Johansen, Søren, Lin, Lin, Kanellis, Dimitris, Katsori, Anna-Maria, Christensen, Søren, Luo, Yonglun, Andersen, Jens, Elsässer, Simon, Bartek, Jiri, Schou, Kenneth, Takedachi, A, Despras, E, Scaglione, S, Guérois, R, Guervilly, J, Blin, M, Audebert, S, Camoin, L, Hasanova, Z, Schertzer, Mike, Guille, A, Churikov, D, Callebaut, I, Naim, V, Chaffanet, M, Borg, J, Bertucci, F, Revy, P, Birnbaum, D, Londoño-Vallejo, Arturo, Kannouche, P, Gaillard, P

المساهمون: Dynamique de l'information génétique : bases fondamentales et cancer (DIG CANCER), Sorbonne Université (SU)-Institut Curie Paris -Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 1545-9993.

مصطلحات موضوعية: DNA damage response, DNA repair, DNA:RNA hybrid, Hoyeral-Hreiderson syndrome, POLδ, Poldip3, R-loop, RTEL1, dyskeratosis congenita, helicase, polymerase δ, telomere maintenance, MESH: DNA Helicases, MESH: DNA Replication, MESH: Recombinases, MESH: Transcription, Genetic, MESH: Dyskeratosis Congenita, MESH: Fanconi Anemia Complementation Group D2 Protein, MESH: Fetal Growth Retardation, MESH: Germ-Line Mutation, MESH: HeLa Cells, MESH: Humans, MESH: Intellectual Disability, MESH: Microcephaly, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32398829; hal-03023248; https://hal.archives-ouvertes.fr/hal-03023248Test; PUBMED: 32398829; PUBMEDCENTRAL: PMC7397856

الإتاحة: https://doi.org/10.1038/s41594-020-0419-3Test
https://hal.archives-ouvertes.fr/hal-03023248Test