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Select item 86288731.

Genotype-Cancer Association in Patients with Fanconi Anemia due to Pathogenic Variants in FANCD1 (BRCA2) or FANCN (PALB2)

Lisa J. McReynolds, Kajal Biswas, Neelam Giri, Shyam K. Sharan, Blanche P. Alter

Cancer Genet. Author manuscript; available in PMC 2022 Nov 1.

Published in final edited form as: Cancer Genet. 2021 Nov; 258-259: 101–109. Published online 2021 Oct 4. doi: 10.1016/j.cancergen.2021.10.001

PMCID:: PMC8628873

Abstract Article PDF–782K

Select item 55712302.

The zebrafish kidney mutant zeppelin reveals that brca2/fancd1 is essential for pronephros development

Paul T. Kroeger, Jr, Bridgette E. Drummond, Rachel Miceli, Michael McKernan, Gary F. Gerlach, Amanda N. Marra, Annemarie Fox, Kristen K. McCampbell, Ignaty Leshchiner, Adriana Rodriguez-Mari, Ruth BreMiller, Ryan Thummel, Alan J. Davidson, John Postlethwait, Wolfram Goessling, Rebecca A. Wingert

Dev Biol. Author manuscript; available in PMC 2018 Aug 1.

Published in final edited form as: Dev Biol. 2017 Aug 1; 428(1): 148–163. Published online 2017 Jun 1. doi: 10.1016/j.ydbio.2017.05.025

PMCID:: PMC5571230

Abstract Article PDF–1019K

Select item 54860913.

CRISPR/Cas9-Mediated Correction of the FANCD1 Gene in Primary Patient Cells

Karolina Skvarova Kramarzova, Mark J. Osborn, Beau R. Webber, Anthony P. DeFeo, Amber N. McElroy, Chong Jai Kim, Jakub Tolar

Int J Mol Sci. 2017 Jun; 18(6): 1269. Published online 2017 Jun 14. doi: 10.3390/ijms18061269

PMCID:: PMC5486091

Abstract Article PDF–2.7M

Select item 45681594.

Preemptive Bone Marrow Transplantation for FANCD1/BRCA2

Nicholas E Khan, Philip S Rosenberg, Harold P Lehmann, Blanche P Alter

Biol Blood Marrow Transplant. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: Biol Blood Marrow Transplant. 2015 Oct; 21(10): 1796–1801. Published online 2015 Jul 14. doi: 10.1016/j.bbmt.2015.07.006

PMCID:: PMC4568159

Abstract Article PDF–671K

Select item 43505955.

Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene

Emilie Degrolard-Courcet, Joanna Sokolowska, Marie-Martine Padeano, Séverine Guiu, Myriam Bronner, Carole Chery, Fanny Coron, Côme Lepage, Caroline Chapusot, Catherine Loustalot, Jean-Louis Jouve, Cyril Hatem, Emmanuelle Ferrant, Laurent Martin, Charles Coutant, Amandine Baurand, Gérard Couillault, Alexandra Delignette, Salima El Chehadeh, Sarab Lizard, Laurent Arnould, Pierre Fumoleau, Patrick Callier, Francine Mugneret, Christophe Philippe, Thierry Frebourg, Philippe Jonveaux, Laurence Faivre

Eur J Hum Genet. 2014 Aug; 22(8): 979–987. Published online 2013 Dec 4. doi: 10.1038/ejhg.2013.278

PMCID:: PMC4350595

Abstract Article PDF–2.0M

Select item 30904096.

FANCD1/BRCA2 Plays Predominant Role in the Repair of DNA Damage Induced by ACNU or TMZ

Natsuko Kondo, Akihisa Takahashi, Eiichiro Mori, Taichi Noda, Małgorzata Z. Zdzienicka, Larry H. Thompson, Thomas Helleday, Minoru Suzuki, Yuko Kinashi, Shinichiro Masunaga, Koji Ono, Masatoshi Hasegawa, Takeo Ohnishi

PLoS One. 2011; 6(5): e19659. Published online 2011 May 9. doi: 10.1371/journal.pone.0019659

Correction in:: PLoS One. 2011; 6(6): 10.1371/annotation/c6be24d1-bc23-43b4-ae01-b86dad174069.

PMCID:: PMC3090409

Abstract Article PDF–368K

Select item 25979047.

Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2

Blanche P Alter, Philip S Rosenberg, Lawrence C Brody

J Med Genet. 2007 Jan; 44(1): 1–9. Published online 2006 Jul 6. doi: 10.1136/jmg.2006.043257

PMCID:: PMC2597904

Abstract Article PDF–255K

Select item 4809018.

Functional Interaction of Monoubiquitinated FANCD2 and BRCA2/FANCD1 in Chromatin

XiaoZhe Wang, Paul R. Andreassen, Alan D. D'Andrea

Mol Cell Biol. 2004 Jul; 24(13): 5850–5862. doi: 10.1128/MCB.24.13.5850-5862.2004

PMCID:: PMC480901

Abstract Article PDF–1.0M

Select item 2319499.

Cloning and characterization of FAD1, the structural gene for flavin adenine dinucleotide synthetase of Saccharomyces cerevisiae.

M Wu, B Repetto, D M Glerum, A Tzagoloff

Mol Cell Biol. 1995 Jan; 15(1): 264–271. doi: 10.1128/mcb.15.1.264

PMCID:: PMC231949

Summary PDF–284K

Select item 1115979810.

Impaired removal of DNA interstrand cross‐link in Nijmegen breakage syndrome and Fanconi anemia, but not in BRCA‐defective group

Ken Tsuchida, Kenshi Komatsu

Cancer Sci. 2008 Nov; 99(11): 2238–2243. Published online 2008 Sep 1. doi: 10.1111/j.1349-7006.2008.00915.x

PMCID:: PMC11159798

Abstract Article PDF–192K

Select item 1000862211.

Hypomorphic Brca2 and Rad51c double mutant mice display Fanconi anemia, cancer and polygenic replication stress

Karl-Heinz Tomaszowski, Sunetra Roy, Carolina Guerrero, Poojan Shukla, Caezaan Keshvani, Yue Chen, Martina Ott, Xiaogang Wu, Jianhua Zhang, Courtney D. DiNardo, Detlev Schindler, Katharina Schlacher

Nat Commun. 2023; 14: 1333. Published online 2023 Mar 11. doi: 10.1038/s41467-023-36933-y

Correction in:: Nat Commun. 2024; 15: 2214.

PMCID:: PMC10008622

Abstract Article PDF–3.0M

Select item 982715312.

Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort

Burak Altintas, Neelam Giri, Lisa J. McReynolds, Ana Best, Blanche P. Alter

Haematologica. 2023 Jan 1; 108(1): 69–82. Published online 2022 Apr 14. doi: 10.3324/haematol.2021.279981

PMCID:: PMC9827153

Abstract Article PDF–1.5M

Select item 974226013.

Fanconi Anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood

Kara N. Maxwell, Vishal Patel, Kevin T. Nead, Shana Merrill, Dana Clark, Qinqin Jiang, Bradley Wubbenhorst, Kurt D’Andrea, Roger B. Cohen, Susan M. Domchek, Jennifer J.D. Morrissette, Roger A. Greenberg, Daria V. Babushok, Katherine L. Nathanson

Clin Genet. Author manuscript; available in PMC 2024 Jan 1.

Published in final edited form as: Clin Genet. 2023 Jan; 103(1): 119–124. Published online 2022 Sep 26. doi: 10.1111/cge.14231

PMCID:: PMC9742260

Abstract Article PDF–863K

Select item 964765814.

Obesity promotes lipid accumulation in mouse cartilage—a potential role of acetyl-CoA carboxylase (ACC) mediated chondrocyte de novo lipogenesis

Huanhuan Liu, Luke Witzigreuter, Roshini Sathiaseelan, Martin-Paul Agbaga, Richard S. Brush, Michael B. Stout, Shouan Zhu

J Orthop Res. Author manuscript; available in PMC 2023 Dec 1.

Published in final edited form as: J Orthop Res. 2022 Dec; 40(12): 2771–2779. Published online 2022 Mar 12. doi: 10.1002/jor.25322

PMCID:: PMC9647658

Abstract Article PDF–1.2M

Select item 853538615.

Fanconi Anaemia, Childhood Cancer and the BRCA Genes

Emma R. Woodward, Stefan Meyer

Genes (Basel) 2021 Oct; 12(10): 1520. Published online 2021 Sep 27. doi: 10.3390/genes12101520

PMCID:: PMC8535386

Abstract Article PDF–564K

Select item 761478416.

Structure and function of the RAD51B-RAD51C-RAD51D-XRCC2 tumour suppressor

Luke A. Greenhough, Chih-Chao Liang, Ondrej Belan, Simone Kunzelmann, Sarah Maslen, Monica C. Rodrigo-Brenni, Roopesh Anand, Mark Skehel, Simon J. Boulton, Stephen C. West

Nature. Author manuscript; available in PMC 2023 Jul 20.

Published in final edited form as: Nature. 2023 Jun 21; 619(7970): 650–657. Published online 2023 Jun 21. doi: 10.1038/s41586-023-06179-1

PMCID:: PMC7614784

Abstract Article PDF–8.2M

Select item 732766117.

Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population

Orna Steinberg-Shemer, Tracie A. Goldberg, Joanne Yacobovich, Carina Levin, Ariel Koren, Shoshana Revel-Vilk, Tal Ben-Ami, Amir A. Kuperman, Vered Shkalim Zemer, Amos Toren, Joseph Kapelushnik, Ayelet Ben-Barak, Hagit Miskin, Tanya Krasnov, Sharon Noy-Lotan, Orly Dgany, Hannah Tamary

Haematologica. 2020 Jul; 105(7): 1825–1834. Prepublished online 2019 Sep 26. doi: 10.3324/haematol.2019.222877

PMCID:: PMC7327661

Abstract Article PDF–1.0M

Select item 726314418.

Distinct roles of BRCA2 in replication fork protection in response to hydroxyurea and DNA interstrand cross-links

Kimberly A. Rickman, Raymond J. Noonan, Francis P. Lach, Sunandini Sridhar, Anderson T. Wang, Avinash Abhyankar, Athena Huang, Michael Kelly, Arleen D. Auerbach, Agata Smogorzewska

Genes Dev. 2020 Jun 1; 34(11-12): 832–846. doi: 10.1101/gad.336446.120

PMCID:: PMC7263144

Abstract Article PDF–2.6M

Select item 685328819.

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 632820220.

Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility

Ramanagouda Ramanagoudr-Bhojappa, Blake Carrington, Mukundhan Ramaswami, Kevin Bishop, Gabrielle M. Robbins, MaryPat Jones, Ursula Harper, Stephen C. Frederickson, Danielle C. Kimble, Raman Sood, Settara C. Chandrasekharappa

PLoS Genet. 2018 Dec; 14(12): e1007821. Published online 2018 Dec 12. doi: 10.1371/journal.pgen.1007821

PMCID:: PMC6328202

Abstract Article PDF–4.3M

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