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RNA targets of wild-type and mutant FET family proteins.
Hoell JI, Larsson E, Runge S, Nusbaum JD, Duggimpudi S, Farazi TA, Hafner M, Borkhardt A, Sander C, Tuschl T. Hoell JI, et al. Among authors: borkhardt a. Nat Struct Mol Biol. 2011 Nov 13;18(12):1428-31. doi: 10.1038/nsmb.2163. Nat Struct Mol Biol. 2011. PMID: 22081015 Free PMC article.
Whole-genome paired-end analysis confirms remarkable genomic stability of atypical teratoid/rhabdoid tumors.
Hoell JI, Gombert M, Bartenhagen C, Ginzel S, Husemann P, Felsberg J, Reifenberger G, Eggert A, Dugas M, Schönberger S, Borkhardt A, Fischer U. Hoell JI, et al. Among authors: borkhardt a. Genes Chromosomes Cancer. 2013 Oct;52(10):983-5. doi: 10.1002/gcc.22092. Epub 2013 Aug 9. Genes Chromosomes Cancer. 2013. PMID: 23929726 No abstract available.
Recurrent RHOA mutations in pediatric Burkitt lymphoma treated according to the NHL-BFM protocols.
Rohde M, Richter J, Schlesner M, Betts MJ, Claviez A, Bonn BR, Zimmermann M, Damm-Welk C, Russell RB, Borkhardt A, Eils R, Hoell JI, Szczepanowski M, Oschlies I, Klapper W, Burkhardt B, Siebert R; German ICGC MMML-Seq-Project; NHL-BFM Study Group. Rohde M, et al. Among authors: borkhardt a. Genes Chromosomes Cancer. 2014 Nov;53(11):911-6. doi: 10.1002/gcc.22202. Epub 2014 Jul 8. Genes Chromosomes Cancer. 2014. PMID: 25044415
Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency.
Stepensky P, Rensing-Ehl A, Gather R, Revel-Vilk S, Fischer U, Nabhani S, Beier F, Brümmendorf TH, Fuchs S, Zenke S, Firat E, Pessach VM, Borkhardt A, Rakhmanov M, Keller B, Warnatz K, Eibel H, Niedermann G, Elpeleg O, Ehl S. Stepensky P, et al. Among authors: borkhardt a. Blood. 2015 Jan 29;125(5):753-61. doi: 10.1182/blood-2014-08-593202. Epub 2014 Nov 20. Blood. 2015. PMID: 25414442 Free PMC article.
A novel homozygous Fas ligand mutation leads to early protein truncation, abrogation of death receptor and reverse signaling and a severe form of the autoimmune lymphoproliferative syndrome.
Nabhani S, Hönscheid A, Oommen PT, Fleckenstein B, Schaper J, Kuhlen M, Laws HJ, Borkhardt A, Fischer U. Nabhani S, et al. Among authors: borkhardt a. Clin Immunol. 2014 Dec;155(2):231-7. doi: 10.1016/j.clim.2014.10.006. Epub 2014 Oct 24. Clin Immunol. 2014. PMID: 25451160
Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation.
Revel-Vilk S, Fischer U, Keller B, Nabhani S, Gámez-Díaz L, Rensing-Ehl A, Gombert M, Hönscheid A, Saleh H, Shaag A, Borkhardt A, Grimbacher B, Warnatz K, Elpeleg O, Stepensky P. Revel-Vilk S, et al. Among authors: borkhardt a. Clin Immunol. 2015 Jul;159(1):84-92. doi: 10.1016/j.clim.2015.04.007. Epub 2015 Apr 27. Clin Immunol. 2015. PMID: 25931386
481 results