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المؤلفون: Gene Koh, Josef Jiricny, Serena Nik-Zainal, Hiroyuki Sasanuma, Alessandro A. Sartori, Saho Kobayashi-Era, Goncalo Oliveira, Katja Kratz, Andreia Oliveira, Julia Richter, Shunichi Takeda, Shunsuke Kobayashi, Masataka Tsuda, Mariela Artola-Borán, Joanna I. Loizou, Xueqing Zou
المساهمون: University of Zurich
المصدر: Molecular and Cellular Biology
Cellular and Molecular Biology, 41 (9)مصطلحات موضوعية: Exonuclease, Methylnitronitrosoguanidine, congenital, hereditary, and neonatal diseases and abnormalities, exonuclease, DNA repair, 610 Medicine & health, EXO1, DNA Mismatch Repair, Cell Line, Avian Proteins, 03 medical and health sciences, Exonuclease 1, 0302 clinical medicine, Germline mutation, FAN1, PMS2, Animals, Humans, Amino Acid Sequence, Molecular Biology, 030304 developmental biology, 0303 health sciences, Endodeoxyribonucleases, Thionucleosides, biology, Base Sequence, Guanosine, 10061 Institute of Molecular Cancer Research, MLH1, Cell Biology, mutational signature, MSH6, Multifunctional Enzymes, digestive system diseases, Cell biology, mismatch repair, Exodeoxyribonucleases, HEK293 Cells, MSH2, 030220 oncology & carcinogenesis, Mutation, biology.protein, 570 Life sciences, DNA mismatch repair, Chickens, Research Article
وصف الملف: MCB.00303-21.pdf - application/pdf; mcb.00303_21.pdf - application/pdf; application/application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dacecd54851930197305ebd9da9907fTest
https://www.zora.uzh.ch/id/eprint/205636Test/ -
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المؤلفون: Kyoung Woon Kim, Hyojin Chae, Sun Woo Lim, Do Hyun Na, Byung Ha Chung, Myungshin Kim, Eun Jeong Ko, Chul Woo Yang, Bo-Mi Kim, Yoo-Jin Shin
المصدر: Stem Cell Research, Vol 46, Iss, Pp 101876-(2020)
مصطلحات موضوعية: Adult, 0301 basic medicine, Induced Pluripotent Stem Cells, medicine.disease_cause, Peripheral blood mononuclear cell, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Induced pluripotent stem cell, Gene, lcsh:QH301-705.5, Sequence Deletion, Nuclease, Mutation, biology, FAN1 gene, Fanconi Anemia Complementation Group D2 Protein, Cell Biology, General Medicine, Karyomegalic interstitial nephritis, biology.organism_classification, Molecular biology, Embryonic stem cell, Fanconi Anemia Complementation Group Proteins, Sendai virus, 030104 developmental biology, lcsh:Biology (General), Leukocytes, Mononuclear, biology.protein, behavior and behavior mechanisms, Nephritis, Interstitial, Female, 030217 neurology & neurosurgery, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccf78895c66f04e881820f0353613a56Test
http://www.sciencedirect.com/science/article/pii/S187350612030177XTest -
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المؤلفون: Sunder Sims-Lucas, Elina Mukherjee, Jang Cho, Friedhelm Hildebrandt, Merlin Airik, Rannar Airik, Markus Schueler, Jonathan D. Porath
المصدر: Journal of the American Society of Nephrology. 27:3552-3559
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, DNA damage, Interstitial nephritis, Biology, medicine.disease_cause, Pathogenesis, Mice, 03 medical and health sciences, medicine, Animals, Renal Insufficiency, Chronic, Mice, Knockout, Kidney, Mutation, Endodeoxyribonucleases, FAN1, Bone marrow failure, General Medicine, medicine.disease, Multifunctional Enzymes, Disease Models, Animal, Exodeoxyribonucleases, 030104 developmental biology, medicine.anatomical_structure, Nephrology, Knockout mouse, Cancer research, Nephritis, Interstitial, Brief Communications
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7af1d4795b4ecb22ac7d3d8665337f34Test
https://doi.org/10.1681/asn.2015101108Test -
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المؤلفون: Ashton A. Connor, Alyssa L. Smith, Treasa McPherson, Steven Gallinger, Robert C. Grant, Michelle Chan-Seng-Yue, John Douglas Mcpherson, Ayelet Borgida, Emmanouil Saloustros, Iris Selander, Atilla Omeroglu, Spring Holter, Claire Bascuñana, Thomas Whelan, Sean P. Cleary, Jacek Majewski, Najmeh Alirezaie, Gloria M. Petersen, William D. Foulkes, Anita Hall, Lincoln Stein, George Zogopoulos
المصدر: Cancer letters, vol 370, iss 2
مصطلحات موضوعية: Exome sequencing, 0301 basic medicine, Cancer Research, DNA Repair, Cell Cycle Proteins, Gene mutation, medicine.disease_cause, Germline, Risk Factors, 2.1 Biological and endogenous factors, Exome, Aetiology, Cancer, Genetics, Mutation, DNA repair genes, Gene Expression Regulation, Neoplastic, NIMA-Related Kinase 1, Oncology, Familial pancreatic cancer, Sequence Analysis, Biotechnology, DNA repair, Oncology and Carcinogenesis, Protein Serine-Threonine Kinases, Biology, Article, Pancreatic Cancer, 03 medical and health sciences, Rare Diseases, Clinical Research, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Oncology & Carcinogenesis, Gene, Neoplastic, FAN1, Human Genome, DNA, Sequence Analysis, DNA, Pancreatic Neoplasms, Orphan Drug, 030104 developmental biology, Gene Expression Regulation, Cancer research, Digestive Diseases, Pancreatic adenocarcinoma
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f89e0fe385aafa8f857f535544ace228Test
https://doi.org/10.1016/j.canlet.2015.10.030Test -
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المؤلفون: Karen Usdin, Xiao-Nan Zhao
المصدر: DNA repair. 69
مصطلحات موضوعية: 0301 basic medicine, Male, Somatic cell, Single-nucleotide polymorphism, Biology, medicine.disease_cause, Biochemistry, DNA Mismatch Repair, Germline, Article, 03 medical and health sciences, Mice, Tandem repeat, medicine, Animals, Molecular Biology, Genetics, Mice, Knockout, Mutation, Endodeoxyribonucleases, FAN1, Cell Biology, DNA, medicine.disease, Multifunctional Enzymes, Fragile X syndrome, Disease Models, Animal, 030104 developmental biology, Exodeoxyribonucleases, Fragile X Syndrome, Female, Trinucleotide repeat expansion, Trinucleotide Repeat Expansion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6af8ed01e42e00a96df58f61f81f575Test
https://pubmed.ncbi.nlm.nih.gov/29990673Test -
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المؤلفون: Janina Enderle, Alexander Knoll, Angelina Schindele, Holger Puchta, Annika Dorn, Natalie J. Herrmann, Sarah Röhrig
المصدر: The new phytologist, 218 (4), 1478–1490
New Phytologistمصطلحات موضوعية: 0301 basic medicine, DNA Replication, Life sciences, biology, congenital, hereditary, and neonatal diseases and abnormalities, DNA Repair, Physiology, DNA repair, RecQ helicase, Mitomycin, Meristem, Arabidopsis, Plant Science, 03 medical and health sciences, Endonuclease, Fanconi anemia, ddc:570, medicine, Nuclease, Endodeoxyribonucleases, Cell Death, RecQ Helicases, Arabidopsis Proteins, FAN1, DNA Helicases, Helicase, nutritional and metabolic diseases, Epistasis, Genetic, medicine.disease, MUS81, Multifunctional Enzymes, Cell biology, 030104 developmental biology, Cross-Linking Reagents, Exodeoxyribonucleases, Fanconi Anemia, Mutation, biology.protein, Cisplatin, Genome, Plant
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37e74b5b92ff5ccc1926539eb91fd1fcTest
https://publikationen.bibliothek.kit.edu/1000090926/75638877Test -
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المؤلفون: Natalie J. Herrmann, Holger Puchta, Alexander Knoll
المصدر: Nucleic Acids Research
مصطلحات موضوعية: Zinc finger, Nuclease, Mutation, Base Sequence, DNA Repair, biology, Arabidopsis Proteins, DNA repair, FAN1, Saccharomyces cerevisiae, Arabidopsis, Genome Integrity, Repair and Replication, Real-Time Polymerase Chain Reaction, biology.organism_classification, medicine.disease_cause, Molecular biology, Cell biology, Schizosaccharomyces pombe, Genetics, biology.protein, medicine, DNA Primers, Nucleotide excision repair
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bce62a31d4843f38c131909dfc7e490cTest
https://doi.org/10.1093/nar/gkv208Test -
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المؤلفون: Helmut Hanenberg, Rohini Desetty, Yonghwan Kim, Arleen D. Auerbach, Francis P. Lach, Agata Smogorzewska
المصدر: Nature genetics
مصطلحات موضوعية: Male, Fanconi anemia, complementation group C, DNA Mutational Analysis, medicine.disease_cause, Article, Recombinases, Endonuclease, DNA Maintenance, Fanconi anemia, Cell Line, Tumor, hemic and lymphatic diseases, Genetics, medicine, Humans, Genetic Predisposition to Disease, Gene, Alleles, Mutation, biology, FAN1, Genetic Complementation Test, Holliday Junction Resolvases, DNA, medicine.disease, Pedigree, Cross-Linking Reagents, Fanconi Anemia, biology.protein, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14a46b2918b2e343ce49ea8eae441c43Test
https://doi.org/10.1038/ng.750Test -
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المؤلفون: Tony T. Huang, Adriana Arita, Robert J. Sims, Thomas Landers, Arleen D. Auerbach, Elizabeth Spiteri, Francis P. Lach, Ashley E Sims, Marcel Freund, Kornelia Neveling, Helmut Hanenberg, Melanie Wurm
المصدر: Nature Structural & Molecular Biology. 14:564-567
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Fanconi anemia, complementation group C, DNA Repair, Blotting, Western, Molecular Sequence Data, Protein degradation, Biology, Structural Biology, Fanconi anemia, hemic and lymphatic diseases, FANCD2, medicine, Humans, Immunoprecipitation, Monoubiquitination, FANCL, Amino Acid Sequence, Molecular Biology, Genetics, Base Sequence, Fanconi Anemia Complementation Group D2 Protein, FAN1, Ubiquitination, Computational Biology, nutritional and metabolic diseases, Sequence Analysis, DNA, medicine.disease, Fanconi Anemia Complementation Group Proteins, Cell biology, Fanconi Anemia, Microscopy, Fluorescence, Ubiquitin ligase complex, Mutation, HeLa Cells
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6e5137ccac44e2a19f47628b82e71faTest
https://doi.org/10.1038/nsmb1252Test -
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المؤلفون: Steven P. Gygi, E. Robert McDonald, Kay Hofmann, Stephen J. Elledge, Alan D. D'Andrea, Bryan A. Ballif, Ji Luo, Kristen E. Hurov, Patrizia Vinciguerra, Shuhei Matsuoka, Agata Smogorzewska
المصدر: Cell. 129:289-301
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Fanconi anemia, complementation group C, DNA Repair, DNA repair, Molecular Sequence Data, Article, General Biochemistry, Genetics and Molecular Biology, Cell Line, S Phase, 03 medical and health sciences, 0302 clinical medicine, hemic and lymphatic diseases, FANCD2, Animals, Humans, Monoubiquitination, Amino Acid Sequence, FANCM, Strongylocentrotus purpuratus, 030304 developmental biology, Genetics, 0303 health sciences, biology, Biochemistry, Genetics and Molecular Biology(all), Ubiquitin, Fanconi Anemia Complementation Group D2 Protein, Lysine, FAN1, Cell Cycle, nutritional and metabolic diseases, Fanconi Anemia Complementation Group Proteins, Ubiquitin ligase, FANCB, Fanconi Anemia, 030220 oncology & carcinogenesis, Mutation, biology.protein, DNA Damage
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91f030841a6e903ee2b2aa998d1e8829Test
https://doi.org/10.1016/j.cell.2007.03.009Test
