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8 results on '"Barozzi, Chiara"'

5. Impact of Gene Polymorphisms, Platelet Reactivity, and the SYNTAX Score on 1-Year Clinical Outcomes in Patients With Non–ST-Segment Elevation Acute Coronary Syndrome Undergoing Percutaneous Coronary Intervention

Author

Palmerini, Tullio, primary, Calabrò, Paolo, additional, Piscione, Federico, additional, De Servi, Stefano, additional, Cattaneo, Marco, additional, Maffeo, Diego, additional, Toso, Anna, additional, Bartorelli, Antonio, additional, Palmieri, Cataldo, additional, De Carlo, Marco, additional, Capodanno, Davide, additional, Barozzi, Chiara, additional, Tomasi, Luciana, additional, Della Riva, Diego, additional, Mariani, Andrea, additional, Taglieri, Nevio, additional, Reggiani, Letizia Bacchi, additional, Bianchi, Renatomaria, additional, De Rosa, Roberta, additional, Mariani, Matteo, additional, Podda, GianMarco, additional, Généreux, Philippe, additional, Stone, Gregg W., additional, and Angiolillo, Dominick J., additional

Published
2014
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6. Detection of Tissue Factor Antigen and Coagulation Activity in Coronary Artery Thrombi Isolated from Patients with ST-Segment Elevation Acute Myocardial Infarction

Author

Palmerini, Tullio, primary, Tomasi, Luciana, additional, Barozzi, Chiara, additional, Della Riva, Diego, additional, Mariani, Andrea, additional, Taglieri, Nevio, additional, Leone, Ornella, additional, Ceccarelli, Claudio, additional, De Servi, Stefano, additional, Branzi, Angelo, additional, Genereux, Philippe, additional, Stone, Gregg W., additional, and Ahamed, Jasimuddin, additional

Published
2013
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7. A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension

Author

Nazzareno Galiè, Sara De Fanti, Luciana Tomasi, Alessandra Manes, Marco Sazzini, Margherita Galletti, Chiara Barozzi, Massimiliano Palazzini, Barozzi, Chiara, Galletti, Margherita, Tomasi, Luciana, De Fanti, Sara, Palazzini, Massimiliano, Manes, Alessandra, Sazzini, Marco, and Galiè, Nazzareno

Subjects
0301 basic medicine, Male, Candidate gene, lcsh:Medicine, Computational biology, Disease, Biology, Vascular Remodeling, Bone Morphogenetic Protein Receptors, Type II, Whole Exome Sequencing, Article, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Antigens, CD, Antigens, Neoplasm, Risk Factors, Exome Sequencing, Inheritance Patterns, Humans, Exome, Familial Primary Pulmonary Hypertension, lcsh:Science, Gene, Lung, Exome sequencing, Genetic Association Studies, Adenosine Triphosphatases, Multidisciplinary, Massive parallel sequencing, lcsh:R, Calcium-Binding Proteins, Membrane Transport Proteins, 3. Good health, BMPR2, pulmonary arteria hypertension, Pedigree, 030104 developmental biology, Mutation, lcsh:Q, Female, genetic, 030217 neurology & neurosurgery
Abstract

The pathogenesis of idiopathic and heritable forms of pulmonary arterial hypertension is still not completely understood, even though several causative genes have been proposed, so that a third of patients remains genetically unresolved. Here we applied a multistep approach to extend identification of the genetic bases of such a disease by searching for novel candidate genes/pathways. Twenty-eight patients belonging to 18 families were screened for BMPR2 mutations and BMPR2-negative samples were tested for 12 additional candidate genes by means of a specific massive parallel sequencing-based assay. Finally, whole exome sequencing was performed on four patients showing no mutations at known disease genes, as well as on their unaffected parents. In addition to EIF2AK4, which has been already suggested to be associated with pulmonary veno-occlusive disease, we identified the novel candidate genes ATP13A3, CD248, EFCAB4B, involved in lung vascular remodeling that represent reliable drivers contributing to the disease according to their biological functions/inheritance patterns. Therefore, our results suggest that combining gene panel and whole exome sequencing provides new insights useful for the genetic diagnosis of familial and idiopathic pulmonary arterial hypertension, as well as for the identification of biological pathways that will be potentially targeted by new therapeutic strategies.

Published
2019

8. How snoRNAs can contribute to cancer at multiple levels.

Author

Zacchini F, Barozzi C, Venturi G, and Montanaro L

Abstract

snoRNAs are a class of non-coding RNAs known to guide site specifically RNA modifications such as 2'-O-methylation and pseudouridylation. Recent results regarding snoRNA alterations in cancer has been made available and suggest their potential evaluation as diagnostic and prognostic biomarkers. A large part of these data, however, was not consistently confirmed and failed to provide mechanistic insights on the contribution of altered snoRNA expression to the neoplastic process. Here, we aim to critically review the available literature on snoRNA in cancer focusing on the studies elucidating the functional consequences of their deregulation. Beyond the canonical guide function in RNA processing and modification we also considered additional roles in which snoRNA, in various forms and through different modalities, are involved and that have been recently reported., (© The Author(s) 2024. Published by Oxford University Press on behalf of NAR Cancer.)

Published
2024
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