Margherita Bodini

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The beta-amyloid precursor protein (beta-APP) contains a copper-binding site localized between amino acids 135 and 156 (beta-APP(135-156)). We have employed synthetic beta-APP peptides to characterize their capacities to reduce Cu(II) to Cu(I). Analogues of the wild-type beta-APP(135-156) peptide, containing specific amino acid substitutions, were used to(More)
Mutated Gene PML-RARA NPM1 + NK-NPM1 Complex karyotype CBFB/ MYH11 MLL-X Trisomy 8 RUNX1/ RUNX1T1 Other Total a TCGA FLT3 9 32 9 1 3 2 1 1 5 63 x CSMD1 3 1 0 1 0 0 0 0 1 6 WT1 3 5 5 0 1 1 0 0 2 17 x DDR2 2 0 1 0 0 0 0 0 0 3 KRAS 2 3 2 2 0 0 1 0 1 11 x CALR 2 0 0 0 0 0 0 0 0 2 REV3L 2 0 0 0 0 0 0 0 0 2 TCERG1L 2 0 0 0 0 0 0 0 0 2 FAM5C 1 2 0 1 0 0 0 0 1 5 x(More)
The analyses carried out using 2 different bioinformatics pipelines (SomaticSniper and MuTect) on the same set of genomic data from 133 acute myeloid leukemia (AML) patients, sequenced inside the Cancer Genome Atlas project, gave discrepant results. We subsequently tested these 2 variant-calling pipelines on 20 leukemia samples from our series (19 primary(More)
The landscape of cancer-predisposing genes has been extensively investigated in the last 30 years with various methodologies ranging from candidate gene to genome-wide association studies. However, sequencing data are still poorly exploited in cancer predisposition studies due to the lack of statistical power when comparing millions of variants at once. To(More)
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