The identification of the PYRIN domain as mediator of IFI16-TLR4 interaction reveals a new class of endogenous inflammatory molecules

IFI16 è stata collegata a varie funzioni biologiche come: la regolazione del ciclo cellulare, l'apoptosi, la segnalazione dei danni al DNA, identificazione e restrizione di virus. Varie malattie infiammatorie sono state inoltre associate all’anomala espressione e rilascio di IFI16 nello spazio extracellulare. L'ipotesi è che la sovra espressione di IFI16 avvenga in compartimenti tissutali in cui non è fisiologicamente espressa durante l'infiammazione. Conseguentemente, IFI16 viene rilasciato ...

XPO1 mutations identify a subgroup of early stage CLL patients characterized by shorter time to first treatment conceivably due to enhanced B cell receptor signaling

Most early-stage chronic lymphocytic leukemia (CLL) patients do not require immediate treatment and are actively managed with watch & wait strategy. While few clinical and molecular factors predict treatment requirement, the impact of gene mutations in unknown. In this study, we examined a total of 1092 early- stage CLL cases, subdivided into a training group (N=295) and two validation cohorts (N=402 and N=395). Through NGS analysis, we identified XPO1 mutations as predictor of shorter ti...

Rapporto sulla condizione giovanile in Lombardia 2023

GWAS era in multiple sclerosis: an integrative approach to explore genotype/phenotype interaction

Multiple sclerosis (MS) is an autoimmune disease of the central nervous system; genetic studies have identified more than 200 MS risk loci, but the functional mechanisms remain unclear; indeed, the identification of genetic factors associated with MS phenotypes and disease progression is crucial. The first phase of this PhD focused on collecting a large dataset of genetic and environmental data to explore gene-environment interactions, with specific aims including: to study autoimmune comorbi...