Publications by authors named "V D'oria"
Laminopathies represent a wide range of genetic disorders caused by mutations in gene-encoding proteins of the nuclear lamina. Altered nuclear mechanics have been associated with laminopathies, given the key role of nuclear lamins as mechanosensitive proteins involved in the mechanotransduction process. To shed light on the nuclear partners cooperating with altered lamins, we focused on Src tyrosine kinase, known to phosphorylate proteins of the nuclear lamina.
View Article and Find Full Text PDFBackground: Hepatocellular carcinoma (HCC) exhibits an exceptional intratumoral heterogeneity that might influence diagnosis and outcome. Advances in digital microscopy and artificial intelligence (AI) may improve the HCC identification of liver cancer cells.
Aim: Two AI algorithms were designed to perform computer-assisted discrimination of tumour from non-tumour nuclei in HCC.
Article Synopsis
- * A study on a 16-year-old female patient with APS3A/B used whole-exome sequencing to uncover two genetic variants in the TIM-3 protein that may affect her autoimmune response and overall health.
- * Additional analyses revealed that, despite similar TIM-3 fluorescence levels to healthy donors, the patient exhibited decreased TIM-3 expression, and unique mutations were found in her compared to a cohort of APS patients, highlighting the potential for new genetic insights in APS classification.
Article Synopsis
- Checkpoint immunotherapy struggles against non-immunogenic tumors like neuroblastoma due to low MHC class I expression and neoantigen burden, but inhibiting ERAP1 can enhance anti-tumor immune responses.
- A novel strategy combining genetic knockout of ERAP1 with the HDAC inhibitor entinostat was developed, leading to increased immunogenicity and making neuroblastoma more responsive to PD-1 therapy.
- Experimental methods included CRISPR/Cas9 gene editing, flow cytometry, and mass spectrometry to demonstrate that ERAP1 inhibition improves immune cell activity and increases MHC class I and PD-L1 expression in neuroblastoma cells, ultimately slowing tumor growth.