Search Results - "PELLAGATTI, Andrea"
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The molecular pathogenesis of the myelodysplastic syndromes
Published in European journal of haematology (01-07-2015)“…Recent studies have greatly illuminated the genomic landscape of the myelodysplastic syndromes (MDS), and the pace of discovery is accelerating. The most…”
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U2AF1 mutations induce oncogenic IRAK4 isoforms and activate innate immune pathways in myeloid malignancies
Published in Nature cell biology (01-05-2019)“…Spliceosome mutations are common in myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML), but the oncogenic changes due to these mutations have…”
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Splicing factor gene mutations in the myelodysplastic syndromes: impact on disease phenotype and therapeutic applications
Published in Advances in biological regulation (01-01-2017)“…Splicing factor gene mutations are the most frequent mutations found in patients with the myeloid malignancy myelodysplastic syndrome (MDS), suggesting that…”
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IL8-CXCR2 pathway inhibition as a therapeutic strategy against MDS and AML stem cells
Published in Blood (14-05-2015)“…Acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) are associated with disease-initiating stem cells that are not eliminated by conventional…”
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SF3B1 mutations induce R-loop accumulation and DNA damage in MDS and leukemia cells with therapeutic implications
Published in Leukemia (01-09-2020)Get full text
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Application of CRISPR/Cas9 genome editing to the study and treatment of disease
Published in Archives of toxicology (01-07-2015)“…CRISPR/Cas is a microbial adaptive immune system that uses RNA-guided nucleases to cleave foreign genetic elements. The CRISPR/Cas9 method has been engineered…”
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Identification of novel myelodysplastic syndromes prognostic subgroups by integration of inflammation, cell-type composition, and immune signatures in the bone marrow
Published in eLife (05-09-2024)“…Mutational profiles of myelodysplastic syndromes (MDS) have established that a relatively small number of genetic aberrations, including SF3B1 and SRSF2…”
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Cell-specific proteome analyses of human bone marrow reveal molecular features of age-dependent functional decline
Published in Nature communications (01-10-2018)“…Diminishing potential to replace damaged tissues is a hallmark for ageing of somatic stem cells, but the mechanisms remain elusive. Here, we present…”
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ASXL1 mutations are associated with distinct epigenomic alterations that lead to sensitivity to venetoclax and azacytidine
Published in Blood cancer journal (New York) (21-09-2021)“…The BCL2-inhibitor, Venetoclax (VEN), has shown significant anti-leukemic efficacy in combination with the DNMT-inhibitor, Azacytidine (AZA). To explore the…”
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SIRT1 Activation Disrupts Maintenance of Myelodysplastic Syndrome Stem and Progenitor Cells by Restoring TET2 Function
Published in Cell stem cell (06-09-2018)“…Myelodysplastic syndrome (MDS), a largely incurable hematological malignancy, is derived from aberrant clonal hematopoietic stem/progenitor cells (HSPCs) that…”
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Gene expression and risk of leukemic transformation in myelodysplasia
Published in Blood (14-12-2017)“…Myelodysplastic syndromes (MDSs) are a heterogeneous group of clonal hematopoietic disorders with a highly variable prognosis. To identify a gene…”
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Identification of a BRCA1-mRNA Splicing Complex Required for Efficient DNA Repair and Maintenance of Genomic Stability
Published in Molecular cell (08-05-2014)“…Mutations within BRCA1 predispose carriers to a high risk of breast and ovarian cancers. BRCA1 functions to maintain genomic stability through the assembly of…”
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Stem and progenitor cells in myelodysplastic syndromes show aberrant stage-specific expansion and harbor genetic and epigenetic alterations
Published in Blood (06-09-2012)“…Even though hematopoietic stem cell (HSC) dysfunction is presumed in myelodysplastic syndrome (MDS), the exact nature of quantitative and qualitative…”
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Advances in the 5q− syndrome
Published in Blood (23-12-2010)“…The 5q− syndrome is the most distinct of all the myelodysplastic syndromes with a clear genotype/phenotype relationship. The significant progress made during…”
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Response of high-risk MDS to azacitidine and lenalidomide is impacted by baseline and acquired mutations in a cluster of three inositide-specific genes
Published in Leukemia (01-09-2019)“…Specific myeloid-related and inositide-specific gene mutations can be linked to myelodysplastic syndromes (MDS) pathogenesis and therapy. Here, 44 higher-risk…”
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Recent Advances in the 5q- Syndrome
Published in Mediterranean journal of hematology and infectious diseases (20-05-2015)“…The 5q- syndrome is the most distinct of the myelodysplastic syndromes (MDS) and patients with this disorder have a deletion of chromosome 5q [del(5q)] as the…”
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Overexpression of IL-1 receptor accessory protein in stem and progenitor cells and outcome correlation in AML and MDS
Published in Blood (09-08-2012)“…Cellular and interpatient heterogeneity and the involvement of different stem and progenitor compartments in leukemogenesis are challenges for the…”
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Impact of Splicing Factor Mutations on Pre-mRNA Splicing in the Myelodysplastic Syndromes
Published in Current pharmaceutical design (01-05-2016)“…Splicing is an essential cellular process which is carried out by the spliceosome in order to remove the introns and join the exons present in pre-mRNA…”
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Phospholipase C beta1 (PI‐PLCbeta1)/Cyclin D3/protein kinase C (PKC) alpha signaling modulation during iron‐induced oxidative stress in myelodysplastic syndromes (MDS)
Published in The FASEB journal (01-11-2020)“…MDS are characterized by anemia and transfusion requirements. Transfused patients frequently show iron overload that negatively affects hematopoiesis. Iron…”
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ASXL1 mutation correction by CRISPR/Cas9 restores gene function in leukemia cells and increases survival in mouse xenografts
Published in Oncotarget (29-12-2015)“…Recurrent somatic mutations of the epigenetic modifier and tumor suppressor ASXL1 are common in myeloid malignancies, including chronic myeloid leukemia (CML),…”
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