A5034051780- RNA modifications and cancer
- Cancer-related gene regulation
- Occupational and environmental lung diseases
- RNA and protein synthesis mechanisms
- Epigenetics and DNA Methylation
- Cardiac Structural Anomalies and Repair
- Peptidase Inhibition and Analysis
- Medical Imaging and Pathology Studies
- DNA Repair Mechanisms
- Gut microbiota and health
- Carcinogens and Genotoxicity Assessment
- Multiple Myeloma Research and Treatments
- Genetic factors in colorectal cancer
- Colorectal Cancer Screening and Detection
- Blood disorders and treatments
- RNA Research and Splicing
- Protein Degradation and Inhibitors
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Telomeres, Telomerase, and Senescence
- Hemoglobinopathies and Related Disorders
- Renal and related cancers
- Signaling Pathways in Disease
- melanin and skin pigmentation
- Dietary Effects on Health
- Bone and Dental Protein Studies
Università degli Studi del Piemonte Orientale “Amedeo Avogadro”
2016-2025
Azienda Ospedaliero Universitaria Maggiore della Carita
2021
University of Turin
2018
Odense University Hospital
2016
Center for Systems Biology
2014
Digital Proteomics (United States)
2014
University of Louisville
2006
Diamond-Blackfan Anemia (DBA) is characterized by a defect of erythroid progenitors and, clinically, anemia and malformations. DBA exhibits an autosomal dominant pattern inheritance with incomplete penetrance. Currently nine genes, all encoding ribosomal proteins (RP), have been found mutated in approximately 50% patients. Experimental evidence supports the hypothesis that primarily result defective ribosome synthesis. By means large collaboration among six centers, we report here mutation...
Malignant pleural mesothelioma (MPM) is a rare, aggressive cancer caused by asbestos exposure. An inherited predisposition has been suggested to explain multiple cases in the same family and observation that not all individuals highly exposed develop tumor. Germline mutations BAP1 are responsible for rare syndrome includes mesothelioma. We hypothesized other genes involved hereditary syndromes could be predisposition. investigated prevalence of germline variants 94 cancer-predisposing 93 MPM...
Background Diamond-Blackfan anemia is a rare, pure red blood cell aplasia of childhood due to an intrinsic defect in erythropoietic progenitors. About 40% patients display various malformations. Anemia corrected by steroid treatment more than 50% cases; non-responders need chronic transfusions or stem transplantation. Defects the RPS19 gene, encoding ribosomal protein S19, are main known cause and account for 25% cases. Mutations RPS24, RPS17, RPL35A described minority show that disorder...
Mutations in the hematopoietic transcription factor GATA‐1 alter proliferation/differentiation of hemopoietic progenitors. exon 2 interfere with synthesis full‐length isoform and lead to production a shortened isoform, GATA‐1s. These mutations have been found patients Diamond–Blackfan anemia (DBA), congenital erythroid aplasia typically caused by genes encoding ribosomal proteins. We sequenced 23 that were negative for most frequently mutated DBA genes. One patient showed c.2T > C...
Asbestos exposure is the main risk factor for malignant pleural mesothelioma (MPM), a rare aggressive tumor. Nevertheless, only 5–17% of those exposed to asbestos develop MPM, suggesting involvement other environmental and genetic factors. To identify factors that may contribute development we conducted genome-wide association study (GWAS; 370,000 genotyped SNPs, 5 million imputed SNPs) in Italy, among 407 MPM cases 389 controls with complete history exposure. A replication was also...
Diamond Blackfan anemia (DBA), a syndrome primarily characterized by and physical abnormalities, is one among group of related inherited bone marrow failure syndromes (IBMFS) which share overlapping clinical features. Heterozygous mutations or single‐copy deletions have been identified in 12 ribosomal protein genes approximately 60% DBA cases, with the genetic etiology unexplained most remaining patients. Unlike many IBMFS, for functional screening assays complement findings, suspected...
Macrophage migration inhibitory factor (MIF) is elevated in patients with acute kidney injury (AKI) and suggested as a potential predictor for renal replacement therapy AKI. In this study, we found that MIF also plays pathogenic role therapeutic target cisplatin-induced AKI mouse model, plasma correlated increased serum creatinine the severity of inflammation tubular necrosis, whereas deletion protected from by largely improving functional histological injury, suppressing including...
Pathogenic germline variants in the BAP1 tumor suppressor gene can cause a cancer syndrome called predisposition (BAP1-TPDS), which is characterized by to mesothelioma, melanoma, renal cell carcinoma, basal and other tumors. Other genes that may predispose mesothelioma are CDKN2A DNA repair genes. Asbestos exposure has often been reported patients with malignant pleural (MPM) BAP1, but this never quantified. We aimed search for among 25 new Italian probands suspected BAP1-TPDS, summarize...
Defects in genes encoding ribosomal proteins cause Diamond Blackfan Anemia (DBA), a red cell aplasia often associated with physical abnormalities. Other bone marrow failure syndromes have been attributed to defects components but the link between erythropoiesis and ribosome remains be fully defined. Several lines of evidence suggest that synthesis lead "ribosomal stress" p53 activation either cycle arrest or induction apoptosis. Pathways independent also proposed play role DBA pathogenesis....
According to the driver-passenger model for colorectal cancer (CRC), tumor-associated microbiota is a dynamic ecosystem of bacterial species where bacteria with carcinogenic features linked CRC initiation are defined as "drivers", while opportunistic colonizing more advanced tumor stages known "passengers". We reasoned that also gut microbiota-associated metabolites may be differentially enriched according stage, and potential determinants development. Thus, we characterized mucosa-...
Ribosomal protein S19 (RPS19) is a 16-kDa found mainly as component of the ribosomal 40 S subunit. Its mutations are responsible for Diamond Blackfan anemia, congenital disease characterized by defective erythroid progenitor maturation. Dysregulation RPS19 has therefore been implicated in this erythropoiesis, although link between them still unclear. Two not mutually exclusive hypotheses have proposed: altered synthesis and loss unknown functions directly connected with structural role...
Mutations in ribosomal proteins RPS19, RPS24 and RPS17 have been reported Diamond-Blackfan Anemia (DBA), an autosomal dominant disease characterised by pure red cell aplasia. DBA is the prototype of ribosomapathies: a protein synthesis defect tissue with high cellular turnover considered cause erythroid progenitor failure. We created mutation database to curate record gene mutations, together their functional consequences clinical phenotypes. This locus-specific resource open future...
Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure disorder linked predominantly to ribosomal protein gene mutations. Here the European DBA consortium reports novel mutations identified in