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Items: 16

1.
Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations
Keiji Hashimoto, Kunio Wada, Kyomu Matsumoto, Masaaki Moriya
DNA Repair (Amst) Author manuscript; available in PMC 2016 Nov 1.
Published in final edited form as: DNA Repair (Amst). 2015 Nov; 35: 48–54. Published online 2015 Sep 30. doi: 10.1016/j.dnarep.2015.09.022
PMCID:
PMC4651760
AbstractArticlePDF–1.1M
2.
Mutation Analysis of the ERCC4/FANCQ Gene in Hereditary Breast Cancer
Sandra Kohlhase, Natalia V. Bogdanova, Peter Schürmann, Marina Bermisheva, Elza Khusnutdinova, Natalia Antonenkova, Tjoung-Won Park-Simon, Peter Hillemanns, Andreas Meyer, Hans Christiansen, Detlev Schindler, Thilo Dörk
PLoS One. 2014; 9(1): e85334. Published online 2014 Jan 21. doi: 10.1371/journal.pone.0085334
PMCID:
PMC3897449
AbstractArticlePDF–217K
3.
The structure-specific endonuclease complex SLX4/XPF regulates Tus/Ter-induced homologous recombination
Rajula Elango, Arvind Panday, Francis P. Lach, Nicholas A. Willis, Kaitlin Nicholson, Erin E. Duffey, Agata Smogorzewska, Ralph Scully
Nat Struct Mol Biol. Author manuscript; available in PMC 2023 Feb 21.
Published in final edited form as: Nat Struct Mol Biol. 2022 Aug; 29(8): 801–812. Published online 2022 Aug 8. doi: 10.1038/s41594-022-00812-9
PMCID:
PMC9941964
AbstractArticlePDF–5.3M
4.
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
AbstractArticlePDF–4.3M
5.
Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF
Isabell Popp, Maqsood Punekar, Nick Telford, Stavros Stivaros, Kate Chandler, Meenakshi Minnis, Anna Castleton, Claire Higham, Louise Hopewell, D. Gareth Evans, Anja Raams, Arjan F. Theil, Stefan Meyer, Detlev Schindler
BMC Med Genet. 2018; 19: 7. Published online 2018 Jan 11. doi: 10.1186/s12881-018-0520-1
PMCID:
PMC5765604
AbstractArticlePDF–3.3M
6.
ERCC4 Variants Identified in a Cohort of Patients with Segmental Progeroid Syndromes
Takayasu Mori, Matthew J. Yousefzadeh, Maryam Faridounnia, Jessica X. Chong, Fuki M. Hisama, Louanne Hudgins, Gabriela Mercado, Erin A Wade, Amira S. Barghouthy, Lin Lee, George M. Martin, Deborah A. Nickerson, Michael J. Bamshad, University of Washington Center for Mendelian Genomics, Laura J. Niedernhofer, Junko Oshima
Hum Mutat. Author manuscript; available in PMC 2019 Feb 1.
Published in final edited form as: Hum Mutat. 2018 Feb; 39(2): 255–265. Published online 2017 Nov 17. doi: 10.1002/humu.23367
PMCID:
PMC5762268
AbstractArticlePDF–1.7M
7.
Fanconi anemia and the development of leukemia
Blanche P. Alter
Best Pract Res Clin Haematol. Author manuscript; available in PMC 2015 Oct 15.
Published in final edited form as: Best Pract Res Clin Haematol. 2014 Sep-Dec; 27(0): 214–221. Published online 2014 Oct 15. doi: 10.1016/j.beha.2014.10.002
PMCID:
PMC4254647
AbstractArticlePDF–786K
8.
Case report: Variants in the ERCC4 gene as a rare cause of cerebellar ataxia with chorea
Joanna Kulikowska, Anna Jakubiuk-Tomaszuk, Małgorzata Rydzanicz, Rafał Płoski, Jan Kochanowicz, Alina Kulakowska, Katarzyna Kapica-Topczewska
Front Genet. 2023; 14: 1107460. Published online 2023 Feb 2. doi: 10.3389/fgene.2023.1107460
PMCID:
PMC9932026
AbstractArticlePDF–1.5M
9.
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients
Jesús del Valle, Paula Rofes, José Marcos Moreno-Cabrera, Adriana López-Dóriga, Sami Belhadj, Gardenia Vargas-Parra, Àlex Teulé, Raquel Cuesta, Xavier Muñoz, Olga Campos, Mónica Salinas, Rafael de Cid, Joan Brunet, Sara González, Gabriel Capellá, Marta Pineda, Lídia Feliubadaló, Conxi Lázaro
Cancers (Basel) 2020 Apr; 12(4): 829. Published online 2020 Mar 30. doi: 10.3390/cancers12040829
PMCID:
PMC7226125
AbstractArticlePDF–748K
10.
The Simple Chordate Ciona intestinalis Has a Reduced Complement of Genes Associated with Fanconi Anemia
Edward C. Stanley, Paul A. Azzinaro, David A. Vierra, Niall G. Howlett, Steven Q. Irvine
Evol Bioinform Online. 2016; 12: 133–148. Published online 2016 Jun 6. doi: 10.4137/EBO.S37920
PMCID:
PMC4898443
AbstractArticlePDF–5.4M
11.
Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders
Maria Marín, María José Ramírez, Miriam Aza Carmona, Nan Jia, Tomoo Ogi, Massimo Bogliolo, Jordi Surrallés
Genes (Basel) 2019 Jan; 10(1): 60. Published online 2019 Jan 17. doi: 10.3390/genes10010060
PMCID:
PMC6357085
AbstractArticlePDF–1.0M
12.
Bach1 Represses Wnt/β-Catenin Signaling and Angiogenesis
Li Jiang, Meng Yin, Xiangxiang Wei, Junxu Liu, Xinhong Wang, Cong Niu, Xueling Kang, Jie Xu, Zhongwei Zhou, Shaoyang Sun, Xu Wang, Xiaojun Zheng, Shengzhong Duan, Kang Yao, Ruizhe Qian, Ning Sun, Alex Chen, Rui Wang, Jianyi Zhang, Sifeng Chen, Dan Meng
Circ Res. Author manuscript; available in PMC 2015 Dec 11.
Published in final edited form as: Circ Res. 2015 Jul 31; 117(4): 364–375. Published online 2015 Jun 29. doi: 10.1161/CIRCRESAHA.115.306829
PMCID:
PMC4676728
AbstractArticlePDF–3.5M
13.
Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia
Kazuya Kashiyama, Yuka Nakazawa, Daniela T. Pilz, Chaowan Guo, Mayuko Shimada, Kensaku Sasaki, Heather Fawcett, Jonathan F. Wing, Susan O. Lewin, Lucinda Carr, Tao-Sheng Li, Koh-ichiro Yoshiura, Atsushi Utani, Akiyoshi Hirano, Shunichi Yamashita, Danielle Greenblatt, Tiziana Nardo, Miria Stefanini, David McGibbon, Robert Sarkany, Hiva Fassihi, Yoshito Takahashi, Yuji Nagayama, Norisato Mitsutake, Alan R. Lehmann, Tomoo Ogi
Am J Hum Genet. 2013 May 2; 92(5): 807–819. doi: 10.1016/j.ajhg.2013.04.007
PMCID:
PMC3644632
AbstractArticlePDF–1.3M
14.
Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia
Massimo Bogliolo, Beatrice Schuster, Chantal Stoepker, Burak Derkunt, Yan Su, Anja Raams, Juan P. Trujillo, Jordi Minguillón, María J. Ramírez, Roser Pujol, José A. Casado, Rocío Baños, Paula Rio, Kerstin Knies, Sheila Zúñiga, Javier Benítez, Juan A. Bueren, Nicolaas G.J. Jaspers, Orlando D. Schärer, Johan P. de Winter, Detlev Schindler, Jordi Surrallés
Am J Hum Genet. 2013 May 2; 92(5): 800–806. doi: 10.1016/j.ajhg.2013.04.002
PMCID:
PMC3644630
AbstractArticlePDF–715K
15.
A Human Orthologue of Archaeal DNA Repair Protein Hef is Defective in Fanconi Anemia Complementation Group M
Amom Ruhikanta Meetei, Annette L. Medhurst, Chen Ling, Yutong Xue, Thiyam Ramsing Singh, Patrick Bier, Jurgen Steltenpool, Stacie Stone, Inderjeet Dokal, Christopher G. Mathew, Maureen Hoatlin, Hans Joenje, Johan P. de Winter, Weidong Wang
Nat Genet. Author manuscript; available in PMC 2009 Jul 1.
Published in final edited form as: Nat Genet. 2005 Sep; 37(9): 958–963. Published online 2005 Aug 21. doi: 10.1038/ng1626
PMCID:
PMC2704909
AbstractArticlePDF–2.2M
16.
The ERCC1 and ERCC4 (XPF) genes and gene products
Mandira Manandhar, Karen S. Boulware, Richard D. Wood
Gene. Author manuscript; available in PMC 2016 Sep 15.
Published in final edited form as: Gene. 2015 Sep 15; 569(2): 153–161. Published online 2015 Jun 12. doi: 10.1016/j.gene.2015.06.026
PMCID:
PMC4536074
AbstractArticlePDF–542K

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