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Select item 78197571.

SLFN11 promotes stalled fork degradation that underlies the phenotype in Fanconi anemia cells

Yusuke Okamoto, Masako Abe, Anfeng Mu, Yasuko Tempaku, Colette B. Rogers, Ayako L. Mochizuki, Yoko Katsuki, Masato T. Kanemaki, Akifumi Takaori-Kondo, Alexandra Sobeck, Anja-Katrin Bielinsky, Minoru Takata

Blood. 2021 Jan 21; 137(3): 336–348. Prepublished online 2020 Jul 31. doi: 10.1182/blood.2019003782

PMCID:: PMC7819757

Abstract Article

Select item 73995242.

范可尼贫血患者临床转归与基因突变关系分析

常丽贤, 任媛媛, 杨文钰, 张家源, 万扬, 刘天峰, 张丽, 陈晓娟, 朱帅, 阮敏, 陈霞, 刘晓明, 戚本泉, 张然然, 邹尧, 陈玉梅, 竺晓凡

Zhongguo Dang Dai Er Ke Za Zhi. 2016 Aug 15; 18(8): 742–745. Chinese. doi: 10.7499/j.issn.1008-8830.2016.08.014

PMCID:: PMC7399524

Abstract Article PDF–1.2M

Select item 73193243.

Participation of TDP1 in the repair of formaldehyde-induced DNA-protein cross-links in chicken DT40 cells

Toshiaki Nakano, Mahmoud I. Shoulkamy, Masataka Tsuda, Hiroyuki Sasanuma, Kouji Hirota, Minoru Takata, Shin-ichiro Masunaga, Shunichi Takeda, Hiroshi Ide, Tadayoshi Bessho, Keizo Tano

PLoS One. 2020; 15(6): e0234859. Published online 2020 Jun 26. doi: 10.1371/journal.pone.0234859

PMCID:: PMC7319324

Abstract Article PDF–1.3M

Select item 68532884.

Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia

Gayle P. Pouliot, James Degar, Laura Hinze, Bose Kochupurakkal, Chau D. Vo, Melissa A. Burns, Lisa Moreau, Chirag Ganesa, Justine Roderick, Sofie Peirs, Bjorn Menten, Mignon L. Loh, Stephen P. Hunger, Lewis B. Silverman, Marian H. Harris, Kristen E. Stevenson, David M. Weinstock, Andrew P. Weng, Pieter Van Vlierberghe, Alan D. D’Andrea, Alejandro Gutierrez

PLoS One. 2019; 14(11): e0221288. Published online 2019 Nov 13. doi: 10.1371/journal.pone.0221288

PMCID:: PMC6853288

Abstract Article PDF–2.8M

Select item 64961885.

Normal red blood cells partially decrease diepoxybutane‐induced chromosome breakage in cultured lymphocytes from Fanconi anaemia patients

B. Porto, R. Sousa, I. Malheiro, J. Gaspar, J. Rueff, C. Gonçalves, J. Barbot

Cell Prolif. 2010 Dec; 43(6): 573–578. Published online 2010 Oct 29. doi: 10.1111/j.1365-2184.2010.00706.x

PMCID:: PMC6496188

Abstract Article PDF–415K

Select item 64545356.

Chromosomal instability in women with primary ovarian insufficiency

Sunita Katari, Mahmoud Aarabi, Angela Kintigh, Susan Mann, Svetlana A Yatsenko, Joseph S Sanfilippo, Anthony J Zeleznik, Aleksandar Rajkovic

Hum Reprod. 2018 Mar; 33(3): 531–538. Published online 2018 Feb 7. doi: 10.1093/humrep/dey012

PMCID:: PMC6454535

Abstract Article PDF–447K

Select item 62453867.

Amifostine Protection Against Mitomycin-induced Chromosomal Breakage in Fanconi Anaemia Lymphocytes

Ricardo M. Camelo, Fernanda S. G. Kehdy, Carlos E. Salas, Miriam T. P. Lopes

Molecules. 2008 Aug; 13(8): 1759–1772. Published online 2008 Aug 21. doi: 10.3390/molecules13081759

PMCID:: PMC6245386

Abstract Article PDF–226K

Select item 59610088.

An E2F7-dependent transcriptional program modulates DNA damage repair and genomic stability

Jone Mitxelena, Aintzane Apraiz, Jon Vallejo-Rodríguez, Iraia García-Santisteban, Asier Fullaondo, Mónica Alvarez-Fernández, Marcos Malumbres, Ana M Zubiaga

Nucleic Acids Res. 2018 May 18; 46(9): 4546–4559. Published online 2018 Mar 24. doi: 10.1093/nar/gky218

Correction in:: Nucleic Acids Res. 2019 Aug 22; 47(14): 7716–7717.

PMCID:: PMC5961008

Abstract Article PDF–1.0M

Select item 55607249.

Genotoxic effects of Roundup Full II® on lymphocytes of Chaetophractus villosus (Xenarthra, Mammalia): In vitro studies

Juan Pablo Luaces, Luis Francisco Rossi, Mónica Gabriela Chirino, Melanie Browne, María Susana Merani, Marta Dolores Mudry

PLoS One. 2017; 12(8): e0182911. Published online 2017 Aug 17. doi: 10.1371/journal.pone.0182911

PMCID:: PMC5560724

Abstract Article PDF–4.8M

Select item 461821310.

Identification of the Fanconi Anemia Complementation Group I Gene, FANCI

Josephine C. Dorsman, Marieke Levitus, Davy Rockx, Martin A. Rooimans, Anneke B. Oostra, Anneke Haitjema, Sietske T. Bakker, Jûrgen Steltenpool, Dezsö Schuler, Sheila Mohan, Detlev Schindler, Fré Arwert, Gerard Pals, Christopher G. Mathew, Quinten Waisfisz, Johan P. de Winter, Hans Joenje

Cell Oncol. 2007; 29(3): 211–218. Published online 2007 Apr 23. doi: 10.1155/2007/151968

PMCID:: PMC4618213

Abstract PDF–229K

Select item 459978011.

Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome

José-Mario Capo-Chichi, Sanjay Kumar Bharti, Joshua A. Sommers, Tony Yammine, Eliane Chouery, Lysanne Patry, Guy A. Rouleau, Mark E. Samuels, Fadi F. Hamdan, Jacques L. Michaud, Robert M. Brosh, Jr, André Mégarbane, Zoha Kibar

Hum Mutat. Author manuscript; available in PMC 2015 Oct 9.

Published in final edited form as: Hum Mutat. 2013 Jan; 34(1): 103–107. Published online 2012 Oct 17. doi: 10.1002/humu.22226

PMCID:: PMC4599780

Abstract Article PDF–282K

Select item 453706912.

Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome

Sanjay Kumar Bharti, Irfan Khan, Taraswi Banerjee, Joshua A. Sommers, Yuliang Wu, Robert M. Brosh, Jr.

Cell Mol Life Sci. 2014 Jul; 71(14): 2625–2639. Published online 2014 Feb 1. doi: 10.1007/s00018-014-1569-4

PMCID:: PMC4537069

Abstract Article PDF–504K

Select item 434763513.

Rad51-mediated replication fork reversal is a global response to genotoxic treatments in human cells

Ralph Zellweger, Damian Dalcher, Karun Mutreja, Matteo Berti, Jonas A. Schmid, Raquel Herrador, Alessandro Vindigni, Massimo Lopes

J Cell Biol. 2015 Mar 2; 208(5): 563–579. doi: 10.1083/jcb.201406099

PMCID:: PMC4347635

Abstract Article PDF–3.9M

Select item 419937614.

C. elegans whole-genome sequencing reveals mutational signatures related to carcinogens and DNA repair deficiency

Bettina Meier, Susanna L. Cooke, Joerg Weiss, Aymeric P. Bailly, Ludmil B. Alexandrov, John Marshall, Keiran Raine, Mark Maddison, Elizabeth Anderson, Michael R. Stratton, Anton Gartner, Peter J. Campbell

Genome Res. 2014 Oct; 24(10): 1624–1636. doi: 10.1101/gr.175547.114

PMCID:: PMC4199376

Abstract Article PDF–1.2M

Select item 375230315.

Roles of ChlR1 DNA Helicase in Replication Recovery from DNA Damage

Niyant Shah, Akira Inoue, Seung Woo Lee, Kate Beishline, Jill M. Lahti, Eishi Noguchi

Exp Cell Res. Author manuscript; available in PMC 2014 Aug 15.

Published in final edited form as: Exp Cell Res. 2013 Aug 15; 319(14): 2244–2253. Published online 2013 Jun 22. doi: 10.1016/j.yexcr.2013.06.005

PMCID:: PMC3752303

Abstract Article PDF–1.5M

Select item 341214016.

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 340780117.

Improvement of genetic stability in lymphocytes from Fanconi anemia patients through the combined effect of α-lipoic acid and N-acetylcysteine

Filipa Ponte, Rosa Sousa, Ana Paula Fernandes, Cristina Gonçalves, José Barbot, Félix Carvalho, Beatriz Porto

Orphanet J Rare Dis. 2012; 7: 28. Published online 2012 May 16. doi: 10.1186/1750-1172-7-28

PMCID:: PMC3407801

Abstract Article PDF–778K

Select item 329345418.

FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway

Masamichi Ishiai, Hiroyuki Kitao, Agata Smogorzewska, Junya Tomida, Aiko Kinomura, Emi Uchida, Alihossein Saberi, Eiji Kinoshita, Emiko Kinoshita-Kikuta, Tohru Koike, Satoshi Tashiro, Stephen J. Elledge, Minoru Takata

Nat Struct Mol Biol. Author manuscript; available in PMC 2012 Mar 5.

Published in final edited form as: Nat Struct Mol Biol. 2008 Nov; 15(11): 1138–1146. Published online 2008 Oct 19. doi: 10.1038/nsmb.1504

PMCID:: PMC3293454

Abstract Article PDF–4.7M

Select item 279903019.

Embryonic lethality after combined inactivation of Fancd2 and Mlh1 in mice

Henri J. van de Vrugt, Laura Eaton, Amy Hanlon Newell, Mushen Al-Dhalimy, R. Michael Liskay, Susan B. Olson, Markus Grompe

Cancer Res. Author manuscript; available in PMC 2010 Dec 15.

Published in final edited form as: Cancer Res. 2009 Dec 15; 69(24): 9431–9438. doi: 10.1158/0008-5472.CAN-09-2452

PMCID:: PMC2799030

Abstract Article PDF–385K

Select item 274294320.

Fanconi Anemia and its Diagnosis

Arleen D. Auerbach

Mutat Res. Author manuscript; available in PMC 2010 Jul 31.

Published in final edited form as: Mutat Res. 2009 Jul 31; 668(1-2): 4–10. Published online 2009 Feb 28. doi: 10.1016/j.mrfmmm.2009.01.013

PMCID:: PMC2742943

Abstract Article PDF–375K

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