نتائج البحث

المساهمون: Unité de génétique et biologie des cancers (U830), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5)

المصدر: Gastroenterology
Gastroenterology, WB Saunders, 2019, 156, pp.1919-1920. ⟨10.1053/j.gastro.2019.01.003⟩

مصطلحات موضوعية: Male, Heterozygote, Colorectal cancer, media_common.quotation_subject, [SDV]Life Sciences [q-bio], Nonsense, MEDLINE, Breast Neoplasms, Bioinformatics, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Text mining, medicine, Genetic predisposition, Humans, Genetic Predisposition to Disease, Frameshift Mutation, 030304 developmental biology, media_common, Ovarian Neoplasms, 0303 health sciences, Endodeoxyribonucleases, Hepatology, business.industry, FAN1, Gastroenterology, Computational Biology, High-Throughput Nucleotide Sequencing, Heterozygote advantage, medicine.disease, Multifunctional Enzymes, Pedigree, Exodeoxyribonucleases, Codon, Nonsense, 030220 oncology & carcinogenesis, Female, business, Colorectal Neoplasms

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41f58825e74780a02cf2ecba3efeb42dTest
https://hal.archives-ouvertes.fr/hal-03486819/file/S0016508519300228.pdfTest

6

Ubiquitylation and the Fanconi anemia pathway

المؤلفون: Agata Smogorzewska, Elizabeth Garner

المصدر: FEBS Letters. 585:2853-2860

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d29a84dd8e56734e93ca2a913918041fTest
https://doi.org/10.1016/j.febslet.2011.04.078Test

7

Identification of the FANCI Protein, a Monoubiquitinated FANCD2 Paralog Required for DNA Repair

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

8

Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair

المساهمون: Asociación Española Contra el Cáncer, L'Oréal, European Commission, Ministerio de Economía y Competitividad (España), Institución Catalana de Investigación y Estudios Avanzados, United Nations Educational, Scientific and Cultural Organization, Generalitat de Catalunya, Instituto de Salud Carlos III

المصدر: Scopus
RUO. Repositorio Institucional de la Universidad de Oviedo
instname
GASTROENTEROLOGY
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-FISABIO. Repositorio Institucional de Producción Científica
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
Europe PubMed Central
Digital.CSIC. Repositorio Institucional del CSIC

مصطلحات موضوعية: Adult, Male, Amsterdam criteria, Heredity, DNA Repair, DNA repair, ComputingMilieux_LEGALASPECTSOFCOMPUTING, Genetic Risk Factor, Biology, DNA Mismatch Repair, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Cell Line, Tumor, medicine, Humans, Genetic Predisposition to Disease, Germ-Line Mutation, Exome sequencing, ComputingMilieux_MISCELLANEOUS, Aged, 030304 developmental biology, Aged, 80 and over, Genetics, 0303 health sciences, Endodeoxyribonucleases, Hepatology, FAN1, Gastroenterology, Cancer, DNA Repair Pathway, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Multifunctional Enzymes, Lynch syndrome, Pedigree, 3. Good health, Exodeoxyribonucleases, HEK293 Cells, Phenotype, Susceptibility, Child, Preschool, 030220 oncology & carcinogenesis, Data_GENERAL, Lynch Syndrome, Female, DNA mismatch repair, DNA Mismatch Repair, Genetic Risk Factor, Lynch Syndrome, Susceptibility