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Select item 111726811.

Phenotypic and Genotypic Features of the FAN1 Mutation-Related Disease in a Large Hungarian Family

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

Int J Mol Sci. 2024 Jun; 25(11): 5907. Published online 2024 May 29. doi: 10.3390/ijms25115907

PMCID:: PMC11172681

Abstract Article PDF–3.5M

Select item 104383742.

FAN1 removes triplet repeat extrusions via a PCNA- and RFC-dependent mechanism

Ashutosh S. Phadte, Mayuri Bhatia, Hope Ebert, Haaris Abdullah, Essam Abed Elrazaq, Konstantin E. Komolov, Anna Pluciennik

Proc Natl Acad Sci U S A. 2023 Aug 15; 120(33): e2302103120. Published online 2023 Aug 7. doi: 10.1073/pnas.2302103120

PMCID:: PMC10438374

Abstract Article PDF–2.1M

Select item 95886723.

Persistent DNA damage underlies tubular cell polyploidization and progression to chronic kidney disease in kidneys deficient in the DNA repair protein FAN1

Merlin Airik, Yu Leng Phua, Amy B Huynh, Blake T McCourt, Brittney M Rush, Roderick J Tan, Jerry Vockley, Susan L Murray, Anthony Dorman, Peter J Conlon, Rannar Airik

Kidney Int. Author manuscript; available in PMC 2023 Nov 1.

Published in final edited form as: Kidney Int. 2022 Nov; 102(5): 1042–1056. Published online 2022 Aug 2. doi: 10.1016/j.kint.2022.07.003

PMCID:: PMC9588672

Abstract Article PDF–3.0M

Select item 89865354.

Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset

Branduff McAllister, Jasmine Donaldson, Caroline S. Binda, Sophie Powell, Uroosa Chughtai, Gareth Edwards, Joseph Stone, Sergey Lobanov, Linda Elliston, Laura-Nadine Schuhmacher, Elliott Rees, Georgina Menzies, 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, REGISTRY Investigators of the European Huntington’s disease network, Jane S. Paulsen, PREDICT-HD Investigators of the Huntington Study Group, Nigel M. Williams, James F. Gusella, Darren G. Monckton, Nicholas D. Allen, Peter Holmans, Lesley Jones, Thomas H. Massey

Nat Neurosci. 2022; 25(4): 446–457. Published online 2022 Apr 4. doi: 10.1038/s41593-022-01033-5

PMCID:: PMC8986535

Abstract Article PDF–6.6M

Select item 82016695.

New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene

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

BMC Med Genomics. 2021; 14: 160. Published online 2021 Jun 14. doi: 10.1186/s12920-021-01009-7

PMCID:: PMC8201669

Abstract Article PDF–1.4M

Select item 79904476.

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

Amit L. Deshmukh, Antonio Porro, Mohiuddin Mohiuddin, Stella Lanni, Gagan B. Panigrahi, Marie-Christine Caron, Jean-Yves Masson, Alessandro A. Sartori, Christopher E. Pearson

J Huntingtons Dis. 2021; 10(1): 95–122. Published online 2021 Feb 9. doi: 10.3233/JHD-200448

PMCID:: PMC7990447

Abstract Article PDF–2.1M

Select item 73326677.

Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects

Kyung-Hee Kim, Eun Pyo Hong, Jun Wan Shin, Michael J. Chao, Jacob Loupe, Tammy Gillis, Jayalakshmi S. Mysore, Peter Holmans, Lesley Jones, Michael Orth, Darren G. Monckton, Jeffrey D. Long, Seung Kwak, Ramee Lee, James F. Gusella, Marcy E. MacDonald, Jong-Min Lee

Am J Hum Genet. 2020 Jul 2; 107(1): 96–110. Published online 2020 Jun 25. doi: 10.1016/j.ajhg.2020.05.012

PMCID:: PMC7332667

Abstract Article PDF–938K

Select item 71052298.

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

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

DNA Repair (Amst) 2018 Apr; 64: 53–58. Published online 2018 Feb 21. doi: 10.1016/j.dnarep.2018.02.007

PMCID:: PMC7105229

Abstract Article PDF–1.1M

Select item 42688749.

Structural insights into 5′ flap DNA unwinding and incision by the human FAN1 dimer

Qi Zhao, Xiaoyu Xue, Simonne Longerich, Patrick Sung, Yong Xiong

Nat Commun. 2014; 5: 5726. Published online 2014 Dec 11. doi: 10.1038/ncomms6726

PMCID:: PMC4268874

Abstract Article PDF–2.0M

Select item 389086910.

Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism

Iuliana Ionita-Laza, Bin Xu, Vlad Makarov, Joseph D. Buxbaum, J. Louw Roos, Joseph A. Gogos, Maria Karayiorgou

Proc Natl Acad Sci U S A. 2014 Jan 7; 111(1): 343–348. Published online 2013 Dec 16. doi: 10.1073/pnas.1309475110

PMCID:: PMC3890869

Abstract Article PDF–2.2M

Select item 341214011.

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

Weibin Zhou, Edgar A. Otto, Andrew Cluckey, Rannar Airik, Toby W. Hurd, Moumita Chaki, Katrina Diaz, Francis P. Lach, Geoffrey R. Bennett, Heon Y. Gee, Amiya K. Ghosh, Sivakumar Natarajan, Supawat Thongthip, Uma Veturi, Susan J. Allen, Sabine Janssen, Gokul Ramaswami, Joanne Dixon, Felix Burkhalter, Martin Spoendlin, Holger Moch, Michael J. Mihatsch, Jerome Verine, Richard Reade, Hany Soliman, Michel Godin, Denes Kiss, Guido Monga, Gianna Mazzucco, Kerstin Amann, Ferruh Artunc, Ronald C. Newland, Thorsten Wiech, Stefan Zschiedrich, Tobias B. Huber, Andreas Friedl, Gisela G. Slaats, Jaap A. Joles, Roel Goldschmeding, Joseph Washburn, Rachel H. Giles, Shawn Levy, Agata Smogorzewska, Friedhelm Hildebrandt

Nat Genet. Author manuscript; available in PMC 2013 Feb 1.

Published in final edited form as: Nat Genet. 2012 Aug; 44(8): 910–915. Published online 2012 Jul 8. doi: 10.1038/ng.2347

PMCID:: PMC3412140

Abstract Article PDF–1.3M

Select item 300305212.

KIAA1018/FAN1 nuclease protects cells against genomic instability induced by interstrand cross-linking agents

Kazunori Yoshikiyo, Katja Kratz, Kouji Hirota, Kana Nishihara, Minoru Takata, Hitoshi Kurumizaka, Satoshi Horimoto, Shunichi Takeda, Josef Jiricny

Proc Natl Acad Sci U S A. 2010 Dec 14; 107(50): 21553–21557. Published online 2010 Nov 29. doi: 10.1073/pnas.1011081107

PMCID:: PMC3003052

Abstract Article PDF–884K

Select item 636027513.

FAN1 modifies Huntington’s disease progression by stabilizing the expanded HTT CAG repeat

Robert Goold, Michael Flower, Davina Hensman Moss, Chris Medway, Alison Wood-Kaczmar, Ralph Andre, Pamela Farshim, Gill P Bates, Peter Holmans, Lesley Jones, Sarah J Tabrizi

Hum Mol Genet. 2019 Feb 15; 28(4): 650–661. Published online 2018 Oct 24. doi: 10.1093/hmg/ddy375

PMCID:: PMC6360275

Abstract Article PDF–9.8M

Select item 491489514.

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

Conceição Bettencourt, Davina Hensman‐Moss, Michael Flower, Sarah Wiethoff, Alexis Brice, Cyril Goizet, Giovanni Stevanin, Georgios Koutsis, Georgia Karadima, Marios Panas, Petra Yescas‐Gómez, Lizbeth Esmeralda García‐Velázquez, María Elisa Alonso‐Vilatela, Manuela Lima, Mafalda Raposo, Bryan Traynor, Mary Sweeney, Nicholas Wood, Paola Giunti, The SPATAX Network, Alexandra Durr, Peter Holmans, Henry Houlden, Sarah J. Tabrizi, Lesley Jones

Ann Neurol. 2016 Jun; 79(6): 983–990. Published online 2016 May 6. doi: 10.1002/ana.24656

PMCID:: PMC4914895

Abstract Article PDF–280K

Select item 428543715.

Mechanism of DNA Interstrand Crosslink Processing by Repair Nuclease FAN1

Renjing Wang, Nicole Persky, Barney Yoo, Ouathek Ouerfelli, Agata Smogorzewska, Stephen J. Elledge, Nikola P. Pavletich

Science. Author manuscript; available in PMC 2015 May 28.

Published in final edited form as: Science. 2014 Nov 28; 346(6213): 1127–1130. doi: 10.1126/science.1258973

PMCID:: PMC4285437

Abstract Article PDF–1.6M

Select item 885727416.

New insights on familial colorectal cancer type X syndrome

Felipe Antonio de Oliveira Garcia, Edilene Santos de Andrade, Henrique de Campos Reis Galvão, Cristina da Silva Sábato, Natália Campacci, Andre Escremin de Paula, Adriane Feijó Evangelista, Iara Viana Vidigal Santana, Matias Eliseo Melendez, Rui Manuel Reis, Edenir Inez Palmero

Sci Rep. 2022; 12: 2846. Published online 2022 Feb 18. doi: 10.1038/s41598-022-06782-8

PMCID:: PMC8857274

Abstract Article PDF–1.0M

Select item 456623417.

FANCD2-associated Nuclease 1, but Not Exonuclease 1 or Flap Endonuclease 1, Is Able to Unhook DNA Interstrand Cross-links in Vitro

Julia Pizzolato, Shivam Mukherjee, Orlando D. Schärer, Josef Jiricny

J Biol Chem. 2015 Sep 11; 290(37): 22602–22611. Published online 2015 Jul 28. doi: 10.1074/jbc.M115.663666

PMCID:: PMC4566234

Abstract Article PDF–1.9M

Select item 377750218.

Human KIAA1018/FAN1 nuclease is a new mitotic substrate of APC/C^Cdh1

Fenju Lai, Kaishun Hu, Yuanzhong Wu, Jianjun Tang, Yi Sang, Jingying Cao, Tiebang Kang

Chin J Cancer. 2012 Sep; 31(9): 440–448. doi: 10.5732/cjc.012.10144

PMCID:: PMC3777502

Abstract Article PDF–584K

Select item 838406719.

FANCD2-Associated Nuclease 1 Partially Compensates for the Lack of Exonuclease 1 in Mismatch Repair

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

Mol Cell Biol. 2021 Sep; 41(9): e00303-21. Prepublished online 2021 Jul 6. Published online 2021 Aug 24. doi: 10.1128/MCB.00303-21

PMCID:: PMC8384067

Abstract Article PDF–916K

Select item 564889820.

FAN1 interaction with ubiquitylated PCNA alleviates replication stress and preserves genomic integrity independently of BRCA2

Antonio Porro, Matteo Berti, Julia Pizzolato, Serena Bologna, Svenja Kaden, Anja Saxer, Yue Ma, Kazuo Nagasawa, Alessandro A. Sartori, Josef Jiricny

Nat Commun. 2017; 8: 1073. Published online 2017 Oct 20. doi: 10.1038/s41467-017-01074-6

Correction in:: Nat Commun. 2017; 8: 2285.

PMCID:: PMC5648898

Abstract Article PDF–3.9M

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