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Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.
Rickman KA, Lach FP, Abhyankar A, Donovan FX, Sanborn EM, Kennedy JA, Sougnez C, Gabriel SB, Elemento O, Chandrasekharappa SC, Schindler D, Auerbach AD, Smogorzewska A. Rickman KA, et al. Among authors: smogorzewska a. Cell Rep. 2015 Jul 7;12(1):35-41. doi: 10.1016/j.celrep.2015.06.014. Epub 2015 Jun 25. Cell Rep. 2015. PMID: 26119737 Free PMC article.
Mutations of the SLX4 gene in Fanconi anemia.
Kim Y, Lach FP, Desetty R, Hanenberg H, Auerbach AD, Smogorzewska A. Kim Y, et al. Among authors: smogorzewska a. Nat Genet. 2011 Feb;43(2):142-6. doi: 10.1038/ng.750. Epub 2011 Jan 16. Nat Genet. 2011. PMID: 21240275 Free PMC article.
Ubiquitylation and the Fanconi anemia pathway.
Garner E, Smogorzewska A. Garner E, et al. Among authors: smogorzewska a. FEBS Lett. 2011 Sep 16;585(18):2853-60. doi: 10.1016/j.febslet.2011.04.078. Epub 2011 May 19. FEBS Lett. 2011. PMID: 21605559 Free PMC article. Review.
Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency.
Gineau L, Cognet C, Kara N, Lach FP, Dunne J, Veturi U, Picard C, Trouillet C, Eidenschenk C, Aoufouchi S, Alcaïs A, Smith O, Geissmann F, Feighery C, Abel L, Smogorzewska A, Stillman B, Vivier E, Casanova JL, Jouanguy E. Gineau L, et al. Among authors: smogorzewska a. J Clin Invest. 2012 Mar;122(3):821-32. doi: 10.1172/JCI61014. Epub 2012 Feb 22. J Clin Invest. 2012. PMID: 22354167 Free PMC article.
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.
Zhou W, Otto EA, Cluckey A, Airik R, Hurd TW, Chaki M, Diaz K, Lach FP, Bennett GR, Gee HY, Ghosh AK, Natarajan S, Thongthip S, Veturi U, Allen SJ, Janssen S, Ramaswami G, Dixon J, Burkhalter F, Spoendlin M, Moch H, Mihatsch MJ, Verine J, Reade R, Soliman H, Godin M, Kiss D, Monga G, Mazzucco G, Amann K, Artunc F, Newland RC, Wiech T, Zschiedrich S, Huber TB, Friedl A, Slaats GG, Joles JA, Goldschmeding R, Washburn J, Giles RH, Levy S, Smogorzewska A, Hildebrandt F. Zhou W, et al. Among authors: smogorzewska a. Nat Genet. 2012 Jul 8;44(8):910-5. doi: 10.1038/ng.2347. Nat Genet. 2012. PMID: 22772369 Free PMC article.
78 results