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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.
Hartmann L, Neveling K, Borkens S, Schneider H, Freund M, Grassman E, Theiss S, Wawer A, Burdach S, Auerbach AD, Schindler D, Hanenberg H, Schaal H. Hartmann L, et al. Among authors: freund m. Am J Hum Genet. 2010 Oct 8;87(4):480-93. doi: 10.1016/j.ajhg.2010.08.016. Am J Hum Genet. 2010. PMID: 20869034 Free PMC article.
A novel approach to describe a U1 snRNA binding site.
Freund M, Asang C, Kammler S, Konermann C, Krummheuer J, Hipp M, Meyer I, Gierling W, Theiss S, Preuss T, Schindler D, Kjems J, Schaal H. Freund M, et al. Nucleic Acids Res. 2003 Dec 1;31(23):6963-75. doi: 10.1093/nar/gkg901. Nucleic Acids Res. 2003. PMID: 14627829 Free PMC article.
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.
Meindl A, Hellebrand H, Wiek C, Erven V, Wappenschmidt B, Niederacher D, Freund M, Lichtner P, Hartmann L, Schaal H, Ramser J, Honisch E, Kubisch C, Wichmann HE, Kast K, Deissler H, Engel C, Müller-Myhsok B, Neveling K, Kiechle M, Mathew CG, Schindler D, Schmutzler RK, Hanenberg H. Meindl A, et al. Among authors: freund m. Nat Genet. 2010 May;42(5):410-4. doi: 10.1038/ng.569. Epub 2010 Apr 18. Nat Genet. 2010. PMID: 20400964
Mutation of the RAD51C gene in a Fanconi anemia-like disorder.
Vaz F, Hanenberg H, Schuster B, Barker K, Wiek C, Erven V, Neveling K, Endt D, Kesterton I, Autore F, Fraternali F, Freund M, Hartmann L, Grimwade D, Roberts RG, Schaal H, Mohammed S, Rahman N, Schindler D, Mathew CG. Vaz F, et al. Among authors: freund m. Nat Genet. 2010 May;42(5):406-9. doi: 10.1038/ng.570. Epub 2010 Apr 18. Nat Genet. 2010. PMID: 20400963
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: freund m. 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
943 results