- Renal cell carcinoma treatment
- Renal and related cancers
- RNA Research and Splicing
- Cancer Genomics and Diagnostics
- Nuclear Structure and Function
- Ferroptosis and cancer prognosis
- Cancer, Hypoxia, and Metabolism
- RNA modifications and cancer
- Mitochondrial Function and Pathology
- Mass Spectrometry Techniques and Applications
- Receptor Mechanisms and Signaling
- Multiple and Secondary Primary Cancers
- Acute Myeloid Leukemia Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Chemical Synthesis and Analysis
- Epigenetics and DNA Methylation
- Genomics, phytochemicals, and oxidative stress
- Chronic Myeloid Leukemia Treatments
- Bladder and Urothelial Cancer Treatments
- Muscle Physiology and Disorders
University Hospital of Zurich
2019-2024
University of Zurich
2023
Istituto Ortopedico Rizzoli
2017
University of Bologna
2017
Chromophobe renal cell carcinoma (chRCC) is a tumor subtype with good prognosis, characterized by multiple chromosomal copy number variations (CNV). The World Health Organization (WHO) chRCC classification guidelines define classic and an eosinophilic variant. Large cells reticular cytoplasm prominent membranes (pale cells) are characteristic for chRCC. Classic variants were defined in 42 Swiss chRCCs, 119 Japanese chRCCs whole-slide digital images of 66 from the Cancer Genome Atlas (TCGA)...
Chromophobe renal cell carcinoma (chRCC) patients have good prognosis. Only 5%–10% die of metastatic disease after tumorectomy, but tumor progression cannot be predicted by histopathological parameters alone. chRCC are characterized losses many chromosomes, whereas gene mutations rare. In this study, we aim at identifying genes indicating progression. A bioinformatic approach was used to correlate chromosomal loss and mRNA expression from 15287 The Cancer Genome Atlas (TCGA) database. All in...
Copy-number alterations Yielding Cancer Liabilities Owing to Partial losS (CYCLOPS) genes have been recently identified as the most enriched class of copy-number associated gene dependencies in human cancer. These are cell essential and render tumor cells highly sensitive expression remaining copy. Chromophobe renal carcinoma (chRCC) is characterized by frequent chromosomal deletions, but relevance CYCLOPS this subtype unclear. We found 39 (31%) 124 published candidate (B. Paolella et al.,...
Background: Ankrd2 is a stress responsive protein mainly expressed in muscle cells. Upon the application of oxidative stress, translocates into nucleus where it regulates activity genes involved cellular response to stress. Emery-Dreifuss Muscular Dystrophy 2 (EDMD2) muscular disorder caused by mutations gene encoding lamin A, LMNA. As well as many phenotypic abnormalities, EDMD2 cells also feature permanent basal state, underlying molecular mechanisms which are currently unclear. Methods:...
Mutations in the splicing factor SF3B1 are frequently occurring various cancers and drive tumor progression through activation of cryptic splice sites multiple genes. Recent studies also demonstrate a positive correlation between expression levels wild-type malignancy. Here, we that is hypoxia-inducible (HIF)-1 target gene positively regulates HIF1 pathway activity. By physically interacting with HIF1α, facilitates binding complex to hypoxia response elements (HREs) activate expression. To...
Immune checkpoint inhibitors and antiangiogenic agents are used for first-line treatment of advanced papillary renal cell carcinoma (pRCC) but pRCC response rates to these therapies low.
Abstract Papillary renal cell carcinoma (pRCC) is the second most frequent cancer subtype but has no indicated targeted treatments. MET inhibition may be a treatment for ‐driven pRCC, there large group of non‐MET‐driven pRCC without therapy. Activation NRF2‐ARE pathway been suggested to involved in pRCC. To study relevance pathway, we characterized 60 pRCCs by copy number analysis and Whole Exome Sequencing. Because stabilisation NRF2 results enhanced expression NQO1, reductase that prevents...
SUMMARY Mutations in the splicing factor SF3B1 are frequently occurring various cancers and drive tumor progression through activation of cryptic splice sites multiple genes. Recent studies also demonstrate a positive correlation between expression levels wildtype malignancy, but underlying mechanisms remain elusive. Here, we report that acts as an activator HIF signaling splicing-independent mechanism. We forms heterotrimer with HIF1α HIF1β, facilitating binding HIF1 complex to hypoxia...