A5020466935- Acute Myeloid Leukemia Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Cancer Genomics and Diagnostics
- Retinoids in leukemia and cellular processes
- Acute Lymphoblastic Leukemia research
- Protein Degradation and Inhibitors
- Chronic Myeloid Leukemia Treatments
- RNA modifications and cancer
- Hematological disorders and diagnostics
- Analytical Chemistry and Chromatography
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Nuclear Structure and Function
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Otitis Media and Relapsing Polychondritis
- Pharmacological Effects and Assays
- DNA and Nucleic Acid Chemistry
- Molecular Biology Techniques and Applications
- Vascular Anomalies and Treatments
- Chronic Lymphocytic Leukemia Research
- Epigenetics and DNA Methylation
- Hormonal and reproductive studies
- Blood disorders and treatments
- Erythrocyte Function and Pathophysiology
- CAR-T cell therapy research
- PARP inhibition in cancer therapy
IRCCS Humanitas Research Hospital
2018-2024
Humanitas University
2018-2023
Istituti di Ricovero e Cura a Carattere Scientifico
2021-2023
Wellcome Sanger Institute
2013-2016
University of Cambridge
2016
Addenbrooke's Hospital
2014
University of Perugia
2007-2010
Heterozygous somatic mutations affecting the spliceosome gene SF3B1 drive age-related clonal hematopoiesis, myelodysplastic syndromes (MDS) and other neoplasms. To study their role in such disorders, we generated knock-in mice with hematopoietic-specific expression of Sf3b1-K700E, commonest type mutation MDS. Sf3b1K700E/+ animals had impaired erythropoiesis progressive anemia without ringed sideroblasts, as well reduced hematopoietic stem cell numbers host-repopulating fitness. understand...
Prognostic stratification is critical for making therapeutic decisions and maximizing survival of patients with acute myeloid leukemia. Advances in the genomics leukemia have identified several recurrent gene mutations whose prognostic impact being deciphered. We used HaloPlex target enrichment Illumina-based next generation sequencing to study 24 recurrently mutated genes 42 samples a normal karyotype. Read depth varied between within same sample, but was predictable highly consistent...
Advances in sequencing technologies are giving unprecedented insights into the spectrum of somatic mutations underlying acute myeloid leukaemia with a normal karyotype (AML–NK). It is clear that prognosis individual patients strongly influenced by combination their and many leukaemias composed multiple subclones, differential susceptibilities to treatment. Here, we describe method, employing targeted capture coupled next-generation tailored bioinformatic analysis, for simultaneous study 24...
Abstract ASTRACT: A simple and sensitive gas chromatography/tandem mass spectrometry (GC/MS/MS) method is described for the detection of anabolic steroids, usually found in keratin matrix at very low concentrations. Hair samples from seven athletes who spontaneously reported their abuse a single case cocaine, were analyzed methyltestosterone, nandrolone, boldenone, fluoxymesterolone, cocaine its metabolite benzoylecgonine. Anabolic steroids determinate by digestion hair 1 m NaOH 15 min 95°C....
Background: Clonal hematopoiesis of indeterminate potential (CHIP) is associated with increased risk cancers and inflammation-related diseases. The phenomenon becomes very common in oldest-old individuals, whom the implications CHIP are not well defined. Here we investigate relationships between pathologies people aged >80 years. Methods: We performed a mutational screening 1794 individuals enrolled two population-based studies (“Health_&_Anemia” “Monzino_80+”). Findings: mutations were...