نتائج البحث

1

FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders

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

2

FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington's disease

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

3

FAN1's protection against CGG repeat expansion requires its nuclease activity and is FANCD2-independent

المؤلفون: Xiao-Nan Zhao, Karen Usdin, Huiyan Lu

المصدر: Nucleic Acids Res

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9481b7158f4857574da1699e9bfbc867Test
https://pubmed.ncbi.nlm.nih.gov/34718701Test

4

C02 FAN1 controls cag repeat expansion in huntington’s disease by dual functions, MLH1 retention and nuclease activity

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

5

FAN1 nuclease processes and pauses on disease-associated slipped-DNA repeats: Mechanism against repeat expansions

المؤلفون: Ryan K. C. Yuen, Jean-Yves Masson, Mahreen Khan, Marie-Christine Caron, Amit Laxmikant Deshmukh, Natalie Shum, Masayuki Nakamori, Worrawat Engchuan, Stella Lanni, Christopher E. Pearson, Gagan B. Panigrahi, Peixiang Wang, Mohiuddin Mohiuddin, Kazuhiko Nakatani, Aisha Faruqui

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Nuclease, biology, DNA repair, FAN1, Cleavage (embryo), medicine.disease, Ligand (biochemistry), Molecular biology, Fragile X syndrome, chemistry.chemical_compound, chemistry, biology.protein, medicine, Trinucleotide repeat expansion, DNA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::aae98ac2c0cea282dabedfe2407dc1e3Test
https://doi.org/10.1101/2021.04.15.439995Test

6

FAN1 nuclease activity affects CAG expansion and age at onset of Huntington’s disease

مصطلحات موضوعية: Genetics, Nuclease, Huntington's disease, FAN1, biology.protein, medicine, Biology, Trinucleotide repeat expansion, medicine.disease, Phenotype, Gene, Exome sequencing, Genetic association

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::186d09a6104703c0de6b1a80e06b7c7cTest
https://doi.org/10.1101/2021.04.13.439716Test

7

Generation of a human induced pluripotent stem cell line (CMCi001-A) from a patient with karyomegalic interstitial nephritis with homozygous frameshift deletion mutation c.1985_1994del10 of the FANCD2/FANCI-Associated Nuclease 1 gene

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

8

Structural mechanism of DNA interstrand cross-link unhooking by the bacterial FAN1 nuclease

المؤلفون: Yunje Cho, Upasana Roy, Orlando D. Schärer, Hyeonseok Jin, Gwangrog Lee

المصدر: Journal of Biological Chemistry. 293:6482-6496

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dfde40e08442f56a4c8d360f9832211Test
https://doi.org/10.1074/jbc.ra118.002171Test

9

Importance of homo-dimerization of Fanconi-associated nuclease 1 in DNA flap cleavage

المؤلفون: Hideki Aihara, Yong Xiong, Timsi Rao, Patrick Sung, Simonne Longerich, Weixing Zhao

المصدر: DNA Repair

مصطلحات موضوعية: 0301 basic medicine, Exonuclease, Fanconi-Associated Nuclease 1, Biochemistry, Article, FAN1, FANCD2/FANCI-associated nuclease 1, 03 medical and health sciences, chemistry.chemical_compound, DNA Adducts, 0302 clinical medicine, Bacterial Proteins, FAN1, Humans, A-DNA, Flap endonuclease, DNA Cleavage, Protein Dimerization, Molecular Biology, 030304 developmental biology, 0303 health sciences, Nuclease, FANCD2, Fanconi anemia complementation group D2, Deoxyribonucleases, Endodeoxyribonucleases, biology, Chemistry, FA pathway, FANCI, Fanconi anemia complementation group I, Interstrand crosslink repair, ICL, interstrand DNA crosslink, Cell Biology, Multifunctional Enzymes, ICL, 030104 developmental biology, Exodeoxyribonucleases, 030220 oncology & carcinogenesis, Pseudomonas aeruginosa, biology.protein, Biophysics, TLS, translesion DNA synthesis, Protein Multimerization, HR, homologous recombination, DNA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6de883e2109d35329d10c55635468ba3Test
https://pubmed.ncbi.nlm.nih.gov/29518739Test

10

The RecQ-like helicase HRQ1 is involved in DNA crosslink repair in Arabidopsis in a common pathway with the Fanconi anemia-associated nuclease FAN1 and the postreplicative repair ATPase RAD5A

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 Phytologist

مصطلحات 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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