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Fanconi Anemia — Case Report of Rare Aplastic Anemia at Child


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1. Fanconi G. Familiaere infantile perniziosaartige Anaemie. Jahrbuch Kinderheild. 1927;117:257-280.Search in Google Scholar

2. Kutler DI, Singh B, Satagopan J. A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood. 2003;101:1249-56.10.1182/blood-2002-07-2170Search in Google Scholar

3. Koomen M, Cheng NC, van De Vrugt HJ, et al. Reduced fertility and hypersensitivity to mitomycin C characterize Fancg/Xrcc9 null mice. Hum Mol Genet. 2002;11:273-281.10.1093/hmg/11.3.273Search in Google Scholar

4. Cheng NC, van De Vrugt HJ, van Der Valk MA, et al. Mice with a targeted disruption of the Fanconi anemia homolog Fanca. Hum Mol Genet. 2000;9:1805-1811.10.1093/hmg/9.12.1805Search in Google Scholar

5. Tischkowitz, MD, Hodgson SV. Fanconi anaemia. Journal of Medical Genetics. 2003;40:1-10.10.1136/jmg.40.1.1Search in Google Scholar

6. Joenje H, Levitus M, Waisfisz Q, et al. Complementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A. Am J Hum Genet. 2000;67:759-762.10.1086/303067Search in Google Scholar

7. Liu JM, Kim S, Read EJ, et al. Engraftment of hematopoietic progenitor cells transduced with the Fanconi anemia group C gene (FANCC). Hum Gene Ther. 1999;10:2337-2346.10.1089/10430349950016988Search in Google Scholar

8. Alter BP, Greene MH, Velazquez I, Rosenberg PS. Cancer in Fanconi anemia. Blood. 2003;101:2072.10.1182/blood-2002-11-3597Search in Google Scholar

9. D’Andrea A. Susceptibility pathways in Fanconi anemia and breast cancer. N Engl J Med. 2010;362:1909-1919.10.1056/NEJMra0809889Search in Google Scholar

10. MacMillan ML, Auerbach AD, Davies SM, et al. Haematopoietic cell transplantation in patients with Fanconi anaemia using alternate donors: results of a total body irradiation dose escalation trial. Br J Haematol. 2000;109:121-129.10.1046/j.1365-2141.2000.01955.xSearch in Google Scholar

11. Varon R, Vissinga C, Platzer M, et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell. 1998;93:467-476.10.1016/S0092-8674(00)81174-5Search in Google Scholar

12. Rosselli F, Sanceau J, Gluckman E, Wietzerbin J, Moustacchi E. Abnormal lymphokine production: a novel feature of the genetic disease Fanconi anemia. II. In vitro and in vivo spontaneous overproduction of tumor necrosis factor alpha. Blood. 1994;83:1216-1225.10.1182/blood.V83.5.1216.1216Search in Google Scholar

13. Callen E, Samper E, Ramirez MJ, et al. Breaks at telomeres and TRF2-independent end fusions in Fanconi anemia. Hum Mol Genet. 2002;11:439-444.10.1093/hmg/11.4.43911854176Search in Google Scholar

14. Futaki M, Igarashi T, Watanabe S, et al. The FANCG Fanconi anemia protein interacts with CYP2E1: possible role in protection against oxidative DNA damage. Carcinogenesis. 2002;23:67-72.10.1093/carcin/23.1.6711756225Search in Google Scholar

15. Helleday T, Petermann E, Lundin C, Hodgson B, Sharma RA. DNA repair pathways as targets for cancer therapy. Nat Rev Cancer. 2008;8:193-204.10.1038/nrc234218256616Search in Google Scholar

16. Pang Q, Fagerlie S, Christianson TA, et al. The Fanconi anemia protein FANCC binds to and facilitates the activation of STAT1 by gamma interferon and hematopoietic growth factors. Mol Cell Biol. 2000;20: 4724-4735.10.1128/MCB.20.13.4724-4735.20008589510848598Search in Google Scholar

17. Kitao H, Takata M. Fanconi anemia: a disorder defective in the DNA damage response. Int J Hematol. 2011;93(4):417-24.10.1007/s12185-011-0777-z21331524Search in Google Scholar

18. Deakyne JS, Mazin AV. Fanconi anemia: at the crossroads of DNA repair. Biochemistry (Mosc). 2011;76(1):36-48.10.1134/S000629791101006821568838Search in Google Scholar

19. de Latour RP, et al. Allogeneic hematopoietic stem cell transplantation in Fanconi anemia: the EBMT experience. Blood. 2013. DOI: http://dx.doi.org/10.1182/blood-2013-01-47973310.1182/blood-2013-01-47973324144640Search in Google Scholar

20. Deans AJ, West SC. FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia. Mol. Cell. 2009;36(6):943-53.Search in Google Scholar

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