Publications by authors named "Carlotta Nardelli"
Article Synopsis
- Jumping translocations (JT), linked to disease progression in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), involve the movement of a tri-tetra-somic 1q chromosome to various other chromosomes.
- Research showed that in patients with SRSF2 mutations, JT was associated with changes in DNA methylation during treatment with 5'-azacytidine (AZA), revealing significant shifts in the methylome and impacting various biological pathways.
- The study highlighted that epigenetic modifications, including changes in DNA methylation and specific signaling pathways like PI3K/AKT and MAPK, play a crucial role in the progression of myeloid neoplasms associated with
Article Synopsis
- Scientists found a new type of genetic change called t(X;21) in some patients with blood diseases like myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML).
- This change happened along with other mutations in certain genes, but it didn't create new fusion genes as might be expected.
- They discovered that this genetic change is linked to the loss of two important genes (BCOR and RUNX1), which affects how cells behave in these diseases.
Our work reports implementation of a useful genetic diagnosis for the clinical managment of patients with astrocytic tumors. We investigated 313 prospectively recruited diffuse astrocytic tumours by applying the cIMPACT-NOW Update 3 signature. The cIMPACT-NOW Update 3 (cIMPACT-NOW 3) markers, i.
View Article and Find Full Text PDFChromothripsis is a mitotic catastrophe that arises from multiple double strand breaks and incorrect re-joining of one or a few chromosomes. We report on incidence, distribution, and features of chromothriptic events in T-cell acute lymphoblastic leukemias (T-ALL). SNP array was performed in 103 T-ALL (39 ETP/near ETP, 59 non-ETP, and 5 with unknown stage of differentiation), including 38 children and 65 adults.
View Article and Find Full Text PDFThe catalytic activity of human Telomerase Reverse Transcriptase (TERT) compensates for the loss of telomere length, eroded during each cell cycle, to ensure a correct division of stem and germinal cells. In human tumors, ectopic TERT reactivation, most frequently due to hotspot mutations in the promoter region (TERTp), i.e.
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