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Items: 1 to 20 of 68

1.
Two truncating variants in FANCC and breast cancer risk
Thilo Dörk, Paolo Peterlongo, Arto Mannermaa, Manjeet K. Bolla, Qin Wang, Joe Dennis, Thomas Ahearn, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Kristan J. Aronson, Annelie Augustinsson, Laura E. Beane Freeman, Matthias W. Beckmann, Alicia Beeghly-Fadiel, Sabine Behrens, Marina Bermisheva, Carl Blomqvist, Natalia V. Bogdanova, Stig E. Bojesen, Hiltrud Brauch, Hermann Brenner, Barbara Burwinkel, Federico Canzian, Tsun L. Chan, Jenny Chang-Claude, Stephen J. Chanock, Ji-Yeob Choi, Hans Christiansen, Christine L. Clarke, Fergus J. Couch, Kamila Czene, Mary B. Daly, Isabel dos-Santos-Silva, Miriam Dwek, Diana M. Eccles, Arif B. Ekici, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Jonine Figueroa, Henrik Flyger, Lin Fritschi, Marike Gabrielson, Manuela Gago-Dominguez, Chi Gao, Susan M. Gapstur, Montserrat García-Closas, José A. García-Sáenz, Mia M. Gaudet, Graham G. Giles, Mark S. Goldberg, David E. Goldgar, Pascal Guénel, Lothar Haeberle, Christopher A. Haiman, Niclas Håkansson, Per Hall, Ute Hamann, Mikael Hartman, Jan Hauke, Alexander Hein, Peter Hillemanns, Frans B. L. Hogervorst, Maartje J. Hooning, John L. Hopper, Tony Howell, Dezheng Huo, Hidemi Ito, Motoki Iwasaki, Anna Jakubowska, Wolfgang Janni, Esther M. John, Audrey Jung, Rudolf Kaaks, Daehee Kang, Pooja Middha Kapoor, Elza Khusnutdinova, Sung-Won Kim, Cari M. Kitahara, Stella Koutros, Peter Kraft, Vessela N. Kristensen, Ava Kwong, Diether Lambrechts, Loic Le Marchand, Jingmei Li, Sara Lindström, Martha Linet, Wing-Yee Lo, Jirong Long, Artitaya Lophatananon, Jan Lubiński, Mehdi Manoochehri, Siranoush Manoukian, Sara Margolin, Elena Martinez, Keitaro Matsuo, Dimitris Mavroudis, Alfons Meindl, Usha Menon, Roger L. Milne, Nur Aishah Mohd Taib, Kenneth Muir, Anna Marie Mulligan, Susan L. Neuhausen, Heli Nevanlinna, Patrick Neven, William G. Newman, Kenneth Offit, Olufunmilayo I. Olopade, Andrew F. Olshan, Janet E. Olson, Håkan Olsson, Sue K. Park, Tjoung-Won Park-Simon, Julian Peto, Dijana Plaseska-Karanfilska, Esther Pohl-Rescigno, Nadege Presneau, Brigitte Rack, Paolo Radice, Muhammad U. Rashid, Gad Rennert, Hedy S. Rennert, Atocha Romero, Matthias Ruebner, Emmanouil Saloustros, Marjanka K. Schmidt, Rita K. Schmutzler, Michael O. Schneider, Minouk J. Schoemaker, Christopher Scott, Chen-Yang Shen, Xiao-Ou Shu, Jacques Simard, Susan Slager, Snezhana Smichkoska, Melissa C. Southey, John J. Spinelli, Jennifer Stone, Harald Surowy, Anthony J. Swerdlow, Rulla M. Tamimi, William J. Tapper, Soo H. Teo, Mary Beth Terry, Amanda E. Toland, Rob A. E. M. Tollenaar, Diana Torres, Gabriela Torres-Mejía, Melissa A. Troester, Thérèse Truong, Shoichiro Tsugane, Michael Untch, Celine M. Vachon, Ans M. W. van den Ouweland, Elke M. van Veen, Joseph Vijai, Camilla Wendt, Alicja Wolk, Jyh-Cherng Yu, Wei Zheng, Argyrios Ziogas, Elad Ziv, ABCTB Investigators, NBCS Collaborators, Alison M. Dunning, Paul D. P. Pharoah, Detlev Schindler, Peter Devilee, Douglas F. Easton
Sci Rep. 2019; 9: 12524. Published online 2019 Aug 29. doi: 10.1038/s41598-019-48804-y
PMCID:
PMC6715680
ArticlePDF–963K
2.
Fanconi Anemia complementation group C protein in metabolic disorders
Manoj Nepal, Chi Ma, Guoxiang Xie, Wei Jia, Peiwen Fei
Aging (Albany NY) 2018 Jun; 10(6): 1506–1522. Published online 2018 Jun 21. doi: 10.18632/aging.101487
PMCID:
PMC6046246
ArticlePDF–4.0M
3.
Fanconi Anemia Gene Editing by the CRISPR/Cas9 System
Mark J. Osborn, Richard Gabriel, Beau R. Webber, Anthony P. DeFeo, Amber N. McElroy, Jordan Jarjour, Colby G. Starker, John E. Wagner, J. Keith Joung, Daniel F. Voytas, Christof von Kalle, Manfred Schmidt, Bruce R. Blazar, Jakub Tolar
Hum Gene Ther. 2015 Feb 1; 26(2): 114–126. Published online 2014 Dec 29. doi: 10.1089/hum.2014.111
PMCID:
PMC4326027
ArticlePDF–865K
4.
Correct mRNA Processing at a Mutant TT Splice Donor in FANCC Ameliorates the Clinical Phenotype in Patients and Is Enhanced by Delivery of Suppressor U1 snRNAs
Linda Hartmann, Kornelia Neveling, Stephanie Borkens, Hildegard Schneider, Marcel Freund, Elke Grassman, Stephan Theiss, Angela Wawer, Stefan Burdach, Arleen D. Auerbach, Detlev Schindler, Helmut Hanenberg, Heiner Schaal
Am J Hum Genet. 2010 Oct 8; 87(4): 480–493. doi: 10.1016/j.ajhg.2010.08.016
PMCID:
PMC2948791
ArticlePDF–893K
5.
Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents
Andreas Palagyi, Kornelia Neveling, Ursula Plinninger, Andreas Ziesch, Bianca-Sabrina Targosz, Gerald U Denk, Stephanie Ochs, Antonia Rizzani, Daniel Meier, Wolfgang E Thasler, Helmut Hanenberg, Enrico N De Toni, Florian Bassermann, Claus Schäfer, Burkhard Göke, Detlev Schindler, Eike Gallmeier
Mol Cancer. 2010; 9: 127. Published online 2010 May 28. doi: 10.1186/1476-4598-9-127
PMCID:
PMC2890608
ArticlePDF–1.7M
6.
Mutation analysis of the Fanconi anemia gene FACC.
P. C. Verlander, J. D. Lin, M. U. Udono, Q. Zhang, R. A. Gibson, C. G. Mathew, A. D. Auerbach
Am J Hum Genet. 1994 Apr; 54(4): 595–601.
PMCID:
PMC1918103
SummaryPage BrowsePDF–1.0M
7.
Induction of Fanconi anemia cellular phenotype in human 293 cells by overexpression of a mutant FAC allele.
H Youssoufian, Y Li, M E Martin, M Buchwald
J Clin Invest. 1996 Feb 15; 97(4): 957–962. doi: 10.1172/JCI118519
PMCID:
PMC507141
SummaryPDF–260K
8.
Repression of Fanconi anemia gene (FACC) expression inhibits growth of hematopoietic progenitor cells.
G M Segal, R E Magenis, M Brown, W Keeble, T D Smith, M C Heinrich, G C Bagby, Jr
J Clin Invest. 1994 Aug; 94(2): 846–852. doi: 10.1172/JCI117405
PMCID:
PMC296166
SummaryPage BrowsePDF–1.4M
9.
Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells.
H Youssoufian
Proc Natl Acad Sci U S A. 1994 Aug 16; 91(17): 7975–7979. doi: 10.1073/pnas.91.17.7975
PMCID:
PMC44527
SummaryPage BrowsePDF–1.3M
10.
The Fanconi anemia polypeptide FACC is localized to the cytoplasm.
T Yamashita, D L Barber, Y Zhu, N Wu, A D D'Andrea
Proc Natl Acad Sci U S A. 1994 Jul 5; 91(14): 6712–6716. doi: 10.1073/pnas.91.14.6712
PMCID:
PMC44273
SummaryPage BrowsePDF–1.4M
11.
Zika virus depletes neural stem cells and evades selective autophagy by suppressing the Fanconi anemia protein FANCC
Shashi Kant Tiwari, Jason W Dang, Nianwei Lin, Yue Qin, Shaobo Wang, Tariq M Rana
EMBO Rep. 2020 Dec 3; 21(12): e49183. Published online 2020 Oct 19. doi: 10.15252/embr.201949183
PMCID:
PMC7726779
ArticlePDF–4.5M
12.
Fanconi anemia genes in lung adenocarcinoma- a pathway-wide study on cancer susceptibility
Shi-Yi Yang, Chia-Ni Hsiung, Yao-Jen Li, Gee-Chen Chang, Ying-Huang Tsai, Kuan-Yu Chen, Ming-Shyan Huang, Wu-Chou Su, Yuh-Min Chen, Chao A. Hsiung, Pan-Chyr Yang, Chien-Jen Chen, Pei-Ei Wu, Jyh-Cherng Yu, Chen-Yang Shen, Huan-Ming Hsu
J Biomed Sci. 2016; 23: 23. Published online 2016 Feb 3. doi: 10.1186/s12929-016-0240-9
PMCID:
PMC4739091
ArticlePDF–1.2M
13.
Hypermethylation of the FANCC and FANCL Promoter Regions in Sporadic Acute Leukaemia
C. J. Hess, N. Ameziane, G. J. Schuurhuis, A. Errami, F. Denkers, G. J. L. Kaspers, J. Cloos, H. Joenje, D. Reinhardt, G. J. Ossenkoppele, C. M. Zwaan, Q. Waisfisz
Cell Oncol. 2008; 30(4): 299–306. Published online 2008 Jul 1. doi: 10.3233/CLO-2008-0426
PMCID:
PMC4618910
AbstractPDF–272K
14.
Functional Activity of the Fanconi Anemia Protein FAA Requires FAC Binding and Nuclear Localization
Dieter Näf, Gary M. Kupfer, Ahmed Suliman, Kathleen Lambert, Alan D. D’Andrea
Mol Cell Biol. 1998 Oct; 18(10): 5952–5960. doi: 10.1128/mcb.18.10.5952
PMCID:
PMC109181
ArticlePDF–1.8M
15.
The Fanconi anemia pathway requires FAA phosphorylation and FAA/FAC nuclear accumulation
Takayuki Yamashita, Gary M. Kupfer, Dieter Naf, Ahmed Suliman, Hans Joenje, Shigetaka Asano, Alan D. D’Andrea
Proc Natl Acad Sci U S A. 1998 Oct 27; 95(22): 13085–13090. doi: 10.1073/pnas.95.22.13085
PMCID:
PMC23717
ArticlePDF–301K
16.
Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype
Adam D. Ewing, Seth W. Cheetham, James J. McGill, Michael Sharkey, Rick Walker, Jennifer A. West, Malcolm J. West, Kim M. Summers
Am J Med Genet A. 2021 Jul; 185(7): 2070–2083. Published online 2021 May 7. doi: 10.1002/ajmg.a.62224
PMCID:
PMC8251932
ArticlePDF–5.5M
17.
Tumor suppressor RecQL5 controls recombination induced by DNA crosslinking agents
Yoshifumi Hosono, Takuya Abe, Masamichi Ishiai, M. Nurul Islam, Hiroshi Arakawa, Weidong Wang, Shunichi Takeda, Yutaka Ishii, Minoru Takata, Masayuki Seki, Takemi Enomoto
Biochim Biophys Acta. Author manuscript; available in PMC 2017 Jul 25.
Published in final edited form as: Biochim Biophys Acta. 2014 May; 1843(5): 1002–1012. Published online 2014 Jan 10. doi: 10.1016/j.bbamcr.2014.01.005
PMCID:
PMC5525539
ArticlePDF–1.6M
18.
The Fanconi Anemia C Protein Binds to and Regulates Stathmin-1 Phosphorylation
Audrey Magron, Sabine Elowe, Madeleine Carreau
PLoS One. 2015; 10(10): e0140612. Published online 2015 Oct 14. doi: 10.1371/journal.pone.0140612
PMCID:
PMC4605623
ArticlePDF–10M
19.
Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles
Ella R. Thompson, Maria A. Doyle, Georgina L. Ryland, Simone M. Rowley, David Y. H. Choong, Richard W. Tothill, Heather Thorne, kConFab, Daniel R. Barnes, Jason Li, Jason Ellul, Gayle K. Philip, Yoland C. Antill, Paul A. James, Alison H. Trainer, Gillian Mitchell, Ian G. Campbell
PLoS Genet. 2012 Sep; 8(9): e1002894. Published online 2012 Sep 27. doi: 10.1371/journal.pgen.1002894
PMCID:
PMC3459953
ArticlePDF–381K
20.
Cytoplasmic FANCA-FANCC Complex Interacts and Stabilizes the Cytoplasm-dislocalized Leukemic Nucleophosmin Protein (NPMc)
Wei Du, Jie Li, Jared Sipple, Jianjun Chen, Qishen Pang
J Biol Chem. 2010 Nov 26; 285(48): 37436–37444. Published online 2010 Sep 23. doi: 10.1074/jbc.M110.113209
PMCID:
PMC2988349
ArticlePDF–1.7M

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