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Page 1
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: lach fp. 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.
FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.
Sims AE, Spiteri E, Sims RJ 3rd, Arita AG, Lach FP, Landers T, Wurm M, Freund M, Neveling K, Hanenberg H, Auerbach AD, Huang TT. Sims AE, et al. Among authors: lach fp. Nat Struct Mol Biol. 2007 Jun;14(6):564-7. doi: 10.1038/nsmb1252. Epub 2007 Apr 25. Nat Struct Mol Biol. 2007. PMID: 17460694
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: lach fp. 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.
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.
Castella M, Pujol R, Callén E, Trujillo JP, Casado JA, Gille H, Lach FP, Auerbach AD, Schindler D, Benítez J, Porto B, Ferro T, Muñoz A, Sevilla J, Madero L, Cela E, Beléndez C, de Heredia CD, Olivé T, de Toledo JS, Badell I, Torrent M, Estella J, Dasí A, Rodríguez-Villa A, Gómez P, Barbot J, Tapia M, Molinés A, Figuera A, Bueren JA, Surrallés J. Castella M, et al. Among authors: lach fp. Blood. 2011 Apr 7;117(14):3759-69. doi: 10.1182/blood-2010-08-299917. Epub 2011 Jan 27. Blood. 2011. PMID: 21273304 Free PMC article.
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: lach fp. 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: lach fp. Nat Genet. 2012 Jul 8;44(8):910-5. doi: 10.1038/ng.2347. Nat Genet. 2012. PMID: 22772369 Free PMC article.
34 results