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المؤلفون: Dominique Stoppa-Lyonnet, Lisa Golmard, Maud Blanluet, Sylvie Leou, Catherine Dubois d'Enghien, Hervé Sartelet, Ronan Delaval, Pascale Testevuide, Stanislas Faguer, Lorraine Gueguen
المصدر: Kidney International Reports
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Bronchiectasis, bronchiectasis, business.industry, FAN1, Interstitial nephritis, South Pacific Islands, medicine.disease, Nephropathy, Karyomegaly, karyomegaly, Nephrology, Research Letter, nephropathy, Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3201f903b0946e75cc6016f61be24ab9Test
https://doi.org/10.1016/j.ekir.2021.05.010Test -
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المؤلفون: Merlin Airik, Haley Arbore, Elizabeth Childs, Amy B. Huynh, Yu Leng Phua, Chi Wei Chen, Katherine Aird, Sivakama Bharathi, Bob Zhang, Peter Conlon, Stanislav Kmoch, Kendrah Kidd, Anthony J. Bleyer, Jerry Vockley, Eric Goetzman, Peter Wipf, Rannar Airik
المصدر: Antioxidants; Volume 12; Issue 4; Pages: 900
مصطلحات موضوعية: FAN1, karyomegalic interstitial nephritis, DNA damage, oxidative stress, chronic kidney disease, Physiology, Clinical Biochemistry, Cell Biology, Molecular Biology, Biochemistry
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5fee794515320acb4de7fe7492fe287Test
https://doi.org/10.3390/antiox12040900Test -
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المؤلفون: Gagan B. Panigrahi, Jean-Yves Masson, Amit Laxmikant Deshmukh, Antonio Porro, Mohiuddin Mohiuddin, Stella Lanni, Christopher E. Pearson, Alessandro A. Sartori, Marie-Christine Caron
المساهمون: University of Zurich, Jones, Lesley, Pearson, Christopher E, Wheeler, Vanessa
المصدر: Journal of Huntington's Disease
مصطلحات موضوعية: 0301 basic medicine, DNA Repair, DNA repair, 2804 Cellular and Molecular Neuroscience, Clinical Neurology, 610 Medicine & health, Review, Biology, Genomic Instability, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Huntington's disease, FAN1, medicine, Animals, Humans, Spinocerebellar Ataxias, Copy-number variation, nuclease, Gene, repeat instability, Genetics, modifier, Endodeoxyribonucleases, Genes, Modifier, 10061 Institute of Molecular Cancer Research, medicine.disease, Multifunctional Enzymes, FMR1, karyomegalic interstitial nephritis, Exodeoxyribonucleases, Huntington Disease, 2728 Neurology (clinical), 030104 developmental biology, Spinocerebellar ataxia, 570 Life sciences, biology, Neurology (clinical), Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Huntington’s disease
وصف الملف: document13.27.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7e92a8368c843dfd093416c7ac00b39Test
https://doi.org/10.3233/jhd-200448Test -
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المؤلفون: Carlos Barba-Bazan, Claudia L.K. Hung, Ray Truant, Timothy Wong, Nola Begeja, Tamara Maiuri, Celeste Suart, Yi Peng, Natasha Savic
المصدر: Journal of Huntington's Disease
مصطلحات موضوعية: 0301 basic medicine, DNA Repair, DNA damage, DNA repair, Review, somatic expansion, Biology, Genomic Instability, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Huntington's disease, disease modifiers, medicine, Humans, Spinocerebellar Ataxias, genome wide analysis studies, Genetics, N6-furfuryladenine, FAN1, DNA replication, Mismatch Repair Protein, medicine.disease, Huntington Disease, 030104 developmental biology, MSH3, DNA mismatch repair, Neurology (clinical), 030217 neurology & neurosurgery, Huntington’s disease, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::515c4fd369938753d43e4716cdfdcdacTest
https://doi.org/10.3233/jhd-200414Test -
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المؤلفون: Alessandro A. Sartori, Gabriel Balmus, Gillian P. Bates, Konstantinos Thalassinos, Hilary Wilkinson, Joseph Hamilton, Michael Flower, Robert Goold, Emma L. Bunting, Antonio Porro, Sarah G. Aldous, Thomas Menneteau, Jose R. Vicente, Sarah J. Tabrizi, Nicholas D. Allen
المساهمون: Balmus, Gabriel [0000-0003-2872-4468], Apollo - University of Cambridge Repository, University of Zurich, Balmus, Gabriel, Tabrizi, Sarah J, Menneteau, Thomas [0000-0003-1831-5425], Tabrizi, Sarah J [0000-0003-2716-2045]
المصدر: Cell Reports
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Mismatch repair complex, DNA repair, Context (language use), 610 Medicine & health, Binding, Competitive, DNA Mismatch Repair, General Biochemistry, Genetics and Molecular Biology, Article, Mismatch repair, Mice, 1300 General Biochemistry, Genetics and Molecular Biology, Fan1, Cell Line, Tumor, Huntington’s Disease, Animals, Humans, Protein Interaction Domains and Motifs, Fan1 Nuclease Activity, Nuclease, Huntingtin Protein, Endodeoxyribonucleases, biology, FAN1, 10061 Institute of Molecular Cancer Research, MLH1, Brain, Msh3, Multifunctional Enzymes, Cell biology, Exodeoxyribonucleases, HEK293 Cells, Huntington Disease, MSH3, Cag Instability, MutS Homolog 3 Protein, biology.protein, 570 Life sciences, Repeat Expansion, DNA mismatch repair, Trinucleotide repeat expansion, MutL Protein Homolog 1, Trinucleotide Repeat Expansion, DNA Damage, Protein Binding, Gwas
وصف الملف: application/pdf; PIIS2211124721010925.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4912e55345ce3c5f611a397cc26a6471Test
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المؤلفون: Gabriel Capellá, Laura Valle, Matilde Navarro, Mariona Terradas, Gemma Aiza, Sami Belhadj, Pau M. Munoz-Torres
المصدر: Human Mutation. 41:1563-1576
مصطلحات موضوعية: Adult, Candidate gene, Adolescent, Colorectal cancer, DNA Mutational Analysis, Biology, Cohort Studies, Young Adult, 03 medical and health sciences, Germline mutation, Genetics, medicine, Humans, Genetic Predisposition to Disease, Epigenetics, Promoter Regions, Genetic, Allele frequency, Interleukin 12 receptor, beta 1 subunit, Gene, Early Detection of Cancer, Genetics (clinical), Aged, 030304 developmental biology, Aged, 80 and over, 0303 health sciences, FAN1, Receptor-Like Protein Tyrosine Phosphatases, Class 3, 030305 genetics & heredity, DNA Methylation, Middle Aged, medicine.disease, Colorectal Neoplasms
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::197a3bdc5838a6fac0b33aa6572329f8Test
https://doi.org/10.1002/humu.24057Test -
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المؤلفون: Kyoko Oka, Masao Ozaki, Masumi Hidaka, Mihoko Rikitake, Ryosuke Fujikane, Yuko Obayashi
المصدر: Genes to Cells. 25:175-186
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, 0303 health sciences, education.field_of_study, Immunoprecipitation, DNA damage, FAN1, Population, Cell Biology, Biology, digestive system diseases, Chromatin, Cell biology, 03 medical and health sciences, chemistry.chemical_compound, chemistry, Apoptosis, Genetics, DNA mismatch repair, education, DNA, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::54d98b289410b420ecf26b9d84190343Test
https://doi.org/10.1111/gtc.12748Test -
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المؤلفون: Xiao-Nan Zhao, Karen Usdin, Huiyan Lu
المصدر: Nucleic Acids Res
مصطلحات موضوعية: Nuclease, Endodeoxyribonucleases, biology, DNA repair, Point mutation, FAN1, Fanconi Anemia Complementation Group D2 Protein, DNA Repair Pathway, Genome Integrity, Repair and Replication, Multifunctional Enzymes, Cell biology, Mice, Inbred C57BL, Mice, DNA Repair Enzymes, Exodeoxyribonucleases, Catalytic Domain, FANCD2, MutS Homolog 3 Protein, Genetics, biology.protein, Animals, Point Mutation, DNA mismatch repair, Trinucleotide repeat expansion, Trinucleotide Repeat Expansion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9481b7158f4857574da1699e9bfbc867Test
https://pubmed.ncbi.nlm.nih.gov/34718701Test -
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المؤلفون: Eduardo E. Laverde
مصطلحات موضوعية: chemistry.chemical_compound, chemistry, DNA repair, R-loop, DNA damage, FAN1, DNA Base Excision Repair, Molecular biology, DNA, B-Form DNA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b852327cfd2629c2b3358b470537c1adTest
https://doi.org/10.25148/etd.fidc008956Test -
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المؤلفون: Hilary Wilkinson, Konstantinos Thalassinos, Emma L. Bunting, Gillian P. Bates, Antonio Porro, Thomas Menneteau, Jose R. Vicente, Robert Goold, Michael Flower, Joseph Hamilton, Alessandro A. Sartori, Gabriel Balmus, Sarah Aldous, Sarah J. Tabrizi, Nicholas D. Allen
المصدر: C: Genetic modifiers.
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Nuclease, MSH3, biology, DNA repair, FAN1, PMS2, biology.protein, Context (language use), DNA mismatch repair, Trinucleotide repeat expansion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::12845b7a37deff33fa310b5b5cb4111dTest
https://doi.org/10.1136/jnnp-2021-ehdn.26Test