المؤلفون: Ildikó Császár, Tibor Kalmár, Zoltán Maróti, János Ávéd, Edit Szederkényi, János Zombori, Gabriella Pankotai-Bodó, Sándor Turkevi-Nagy, Béla Iványi

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 11, p 5907 (2024)

مصطلحات موضوعية: chronic kidney disease, DNA damage, FAN1 mutation, hepatopathy, karyomegalic interstitial nephritis, proteinuria, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/25/11/5907Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/c6803d02a84949788244fd81824c91e4Test

المؤلفون: Sun Woo Lim, Dohyun Na, Hanbi Lee, Xianying Fang, Sheng Cui, Yoo Jin Shin, Kang In Lee, Jae Young Lee, Chul Woo Yang, Byung Ha Chung

المصدر: Cells, Vol 12, Iss 18, p 2319 (2023)

مصطلحات موضوعية: FAN1 gene, induced pluripotent stem cells, kidney organoid, karyomegalic interstitial nephritis, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4409/12/18/2319Test; https://doaj.org/toc/2073-4409Test

الوصول الحر: https://doaj.org/article/7f7b458a8c3343129a63470f190a7898Test

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

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Health Outcomes of Antioxidants and Oxidative Stress; https://dx.doi.org/10.3390/antiox12040900Test

الإتاحة: https://doi.org/10.3390/antiox12040900Test

المؤلفون: Imen Rejeb, Mouna Jerbi, Houweyda Jilani, Hanène Gaied, Yasmina Elaribi, Syrine Hizem, Raja Aoudia, Hafedh Hedri, Chiraz Zaied, Salwa Abid, Hassen Bacha, Taieb BenAbdallah, Lamia BenJemaa, Rim Goucha

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Karyomegalic interstitial nephritis, Chronic tubulointerstitial nephritis, FAN1 gene, Frameshift variants, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/d2abc6e399d04ca896b1686c49138e7dTest

المؤلفون: McAllister, Branduff, Donaldson, Jasmine, Binda, Caroline S, Powell, Sophie, Chughtai, Uroosa, Edwards, Gareth, Stone, Joseph, Lobanov, Sergey, Elliston, Linda, Schuhmacher, Laura-Nadine, Rees, Elliott, Menzies, Georgina, Ciosi, Marc, Maxwell, Alastair, Chao, Michael J, Hong, Eun Pyo, Lucente, Diane, Wheeler, Vanessa, Lee, Jong-Min, MacDonald, Marcy E, Long, Jeffrey D, Aylward, Elizabeth H, Landwehrmeyer, G Bernhard, Rosser, Anne E, REGISTRY Investigators of the European Huntington’s disease network, Silvia, Romano, Paulsen, Jane S, Williams, Nigel M, Gusella, James F, Monckton, Darren G, Allen, Nicholas D, Holmans, Peter, Jones, Lesley, Massey, Thomas H

المساهمون: Branduff, Mcallister, Jasmine, Donaldson, Caroline S, Binda, Sophie, Powell, Uroosa, Chughtai, Gareth, Edward, Joseph, Stone, Sergey, Lobanov, Linda, Elliston, Laura-Nadine, Schuhmacher, Elliott, Ree, Georgina, Menzie, Marc, Ciosi, Alastair, Maxwell, Michael J, Chao, Eun Pyo, Hong, Diane, Lucente, Vanessa, Wheeler, Jong-Min, Lee, Marcy E, Macdonald, Jeffrey D, Long, Elizabeth H, Aylward, G Bernhard, Landwehrmeyer, Anne E, Rosser, Investigators of the European Huntington’s disease network, Registry, Romano, Silvia, Jane S, Paulsen, Nigel M, William, James F, Gusella, Darren G, Monckton, Nicholas D, Allen, Peter, Holman, Lesley, Jone, Thomas H, Massey

مصطلحات موضوعية: exome sequencing, huntington disease, fan1

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35379994; info:eu-repo/semantics/altIdentifier/wos/WOS:000777879200002; volume:25; issue:4; firstpage:446; lastpage:457; numberofpages:12; journal:NATURE NEUROSCIENCE; https://hdl.handle.net/11573/1690351Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128245864

الإتاحة: https://doi.org/10.1038/s41593-022-01033-5Test
https://hdl.handle.net/11573/1690351Test

المؤلفون: Goold, Robert, Hamilton, Joseph, Menneteau, Thomas, Flower, Michael, Bunting, Emma L, Aldous, Sarah G, Porro, Antonio, Vicente, José R, Allen, Nicholas D, Wilkinson, Hilary, Bates, Gillian P, Sartori, Alessandro A, Thalassinos, Konstantinos, Balmus, Gabriel, Tabrizi, Sarah J

مصطلحات موضوعية: CAG instability, DNA repair, FAN1, FAN1 nuclease activity, GWAS, Huntington’s disease, MLH1, MSH3, mismatch repair, repeat expansion, Animals, Binding, Competitive, Brain, Cell Line, Tumor, DNA Damage, DNA Mismatch Repair, Endodeoxyribonucleases, Exodeoxyribonucleases, HEK293 Cells, Humans, Huntingtin Protein, Huntington Disease, Mice, Multifunctional Enzymes, MutL Protein Homolog 1, MutS Homolog 3 Protein, Protein Binding, Protein Interaction Domains and Motifs

وصف الملف: Print; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/330058Test

الإتاحة: https://doi.org/10.17863/CAM.77502Test
https://www.repository.cam.ac.uk/handle/1810/330058Test

المؤلفون: Goold, R, Hamilton, J, Menneteau, T, Flower, M, Bunting, EL, Aldous, SG, Porro, A, Vicente, JR, Allen, ND, Wilkinson, H, Bates, GP, Sartori, AA, Thalassinos, K, Balmus, G, Tabrizi, SJ

المصدر: Cell Reports , 36 (9) , Article 109649. (2021)

مصطلحات موضوعية: Huntington’s disease, repeat expansion, GWASCAG instability, DNA repair, mismatch repair, FAN1, MLH1, MSH3, FAN1 nuclease activity

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10134226/1/1-s2.0-S2211124721010925-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10134226Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10134226/1/1-s2.0-S2211124721010925-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10134226Test/

المؤلفون: Kratz, Katja, Artola-Borán, Mariela, Kobayashi-Era, Saho, Koh, Gene, Oliveira, Goncalo, Kobayashi, Shunsuke, Oliveira, Andreia, Zou, Xueging, Richter, Julia, Tsuda, Masataka, Sasanuma, Hiroyuki, Takeda, Shunichi, Loizou, Joanna I., Sartori, Alessandro A., Nik-Zainal, Serena, Jiricny, Josef

المصدر: Cellular and Molecular Biology, 41 (9)

مصطلحات موضوعية: DNA repair, EXO1, exonuclease, FAN1, mismatch repair, MLH1, MSH6, mutational signature

وصف الملف: application/application/pdf

العلاقة: http://hdl.handle.net/20.500.11850/504144Test

الإتاحة: https://doi.org/20.500.11850/504144Test
https://doi.org/10.3929/ethz-b-000504144Test
https://doi.org/10.1128/MCB.00303-21Test
https://hdl.handle.net/20.500.11850/504144Test

المؤلفون: Rikitake, Mihoko, Fujikane, Ryosuke, Obayashi, Yuko, Oka, Kyoko, Ozaki, Masao, Hidaka, Masumi

مصطلحات موضوعية: apoptosis, FANCD2 and FANCI-associated nuclease 1 (FAN1), O6-methylguanine, mismatch repair (MMR), MLH1

وصف الملف: application/pdf

الوصول الحر: https://ndlsearch.ndl.go.jp/books/R100000039-I11673171Test

Degree: 博士（歯学） -- 福岡歯科大学

المؤلفون: Do Hyun Na, Sun Woo Lim, Bo-Mi Kim, Kyoung Woon Kim, Yoo Jin Shin, Hyojin Chae, Eun Jeong Ko, Chul Woo Yang, Myungshin Kim, Byung Ha Chung

المصدر: Stem Cell Research, Vol 46, Iss , Pp 101876- (2020)

مصطلحات موضوعية: Karyomegalic interstitial nephritis, FAN1 gene, Induced pluripotent stem cell, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S187350612030177XTest; https://doaj.org/toc/1873-5061Test

الوصول الحر: https://doaj.org/article/0c21515b32a74e6dbc9f70dd771d8958Test