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Your search keyword '"DI RESTA, CHIARA"' showing total 14 results
Start Over Author "DI RESTA, CHIARA" Publisher elsevier bv
14 results on '"DI RESTA, CHIARA"'

1. Multimodal Detection and Targeting of Biopsy-Proven Myocardial Inflammation in Genetic Cardiomyopathies

Author

Peretto, Giovanni, primary, De Luca, Giacomo, additional, Villatore, Andrea, additional, Di Resta, Chiara, additional, Sala, Simone, additional, Palmisano, Anna, additional, Vignale, Davide, additional, Campochiaro, Corrado, additional, Lazzeroni, Davide, additional, De Gaspari, Monica, additional, Rizzo, Stefania, additional, Busnardo, Elena, additional, Ferro, Paola, additional, Gianolli, Luigi, additional, Basso, Cristina, additional, Dagna, Lorenzo, additional, Esposito, Antonio, additional, Benedetti, Sara, additional, and Della Bella, Paolo, additional

Published
2023
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2. Inflammation on Endomyocardial Biopsy Predicts Risk of MACE in Undefined Left Ventricular Arrhythmogenic Cardiomyopathy

Author

Peretto, Giovanni, primary, Casella, Michela, additional, Merlo, Marco, additional, Benedetti, Sara, additional, Rizzo, Stefania, additional, Cappelletto, Chiara, additional, Di Resta, Chiara, additional, Compagnucci, Paolo, additional, De Gaspari, Monica, additional, Dello Russo, Antonio, additional, Casari, Giorgio, additional, Basso, Cristina, additional, Sala, Simone, additional, Sinagra, Gianfranco, additional, Della Bella, Paolo, additional, and Cooper, Leslie T., additional

Published
2023
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4. Harmonization of six quantitative SARS-CoV-2 serological assays using sera of vaccinated subjects

Author

Ferrari, Davide, primary, Clementi, Nicola, additional, Spanò, Sestina Maria, additional, Albitar-Nehme, Sami, additional, Ranno, Stefania, additional, Colombini, Alessandra, additional, Criscuolo, Elena, additional, Di Resta, Chiara, additional, Tomaiuolo, Rossella, additional, Viganó, Marco, additional, Mancini, Nicasio, additional, De Vecchi, Elena, additional, Locatelli, Massimo, additional, Mangia, Alessandra, additional, Perno, Carlo Federico, additional, and Banfi, Giuseppe, additional

Published
2021
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6. A novel homozygous mutation in the TRDN gene causes a severe form of pediatric malignant ventricular arrhythmia

Author

Rossi, Daniela, primary, Gigli, Lorenzo, additional, Gamberucci, Alessandra, additional, Bordoni, Roberta, additional, Pietrelli, Alessandro, additional, Lorenzini, Stefania, additional, Pierantozzi, Enrico, additional, Peretto, Giovanni, additional, De Bellis, Gianluca, additional, Della Bella, Paolo, additional, Ferrari, Maurizio, additional, Sorrentino, Vincenzo, additional, Benedetti, Sara, additional, Sala, Simone, additional, and Di Resta, Chiara, additional

Published
2020
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8. Evaluation of three advanced methodologies, COLD-PCR, microarray and ddPCR, for identifying the mutational status by liquid biopsies in metastatic colorectal cancer patients

Author

Galbiati, Silvia, primary, Damin, Francesco, additional, Burgio, Valentina, additional, Brisci, Angela, additional, Soriani, Nadia, additional, Belcastro, Bernadette, additional, Di Resta, Chiara, additional, Gianni, Luca, additional, Chiari, Marcella, additional, Ronzoni, Monica, additional, and Ferrari, Maurizio, additional

Published
2019
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9. Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study

Author

Carrera, Paola, primary, Di Resta, Chiara, additional, Volonteri, Chiara, additional, Castiglioni, Emanuela, additional, Bonfiglio, Silvia, additional, Lazarevic, Dejan, additional, Cittaro, Davide, additional, Stupka, Elia, additional, Ferrari, Maurizio, additional, Somaschini, Marco, additional, Magaldi, Rosario, additional, Rinaldi, Matteo, additional, Maffei, Gianfranco, additional, Stronati, Mauro, additional, Tzialla, Chryssoula, additional, Borghesi, Alessandro, additional, Tagliabue, Paolo, additional, Fedeli, Tiziana, additional, Citterio, Marco, additional, Mosca, Fabio, additional, Colnaghi, Mariarosa, additional, Lavizzari, Anna, additional, Agosti, Massimo, additional, Francescato, Gaia, additional, Pomero, Giulia, additional, Dalmazzo, Cristina, additional, Boldrini, Antonio, additional, Scaramuzzo, Rosa, additional, Bertino, Enrico, additional, Borgione, Silvia, additional, Martano, Claudio, additional, Carnielli, Virgilio, additional, Nobile, Stefano, additional, Auriemma, Antonietta, additional, Bellan, Cristina, additional, Carrera, Giuseppe, additional, Zambetti, Chiara, additional, Pucello, Riccardo, additional, and Palatta, Sara, additional

Published
2015
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13. Increased Sensitivity of the Neuronal Nicotinic Receptor α2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear

Author

Aridon, Paolo, primary, Marini, Carla, additional, Di Resta, Chiara, additional, Brilli, Elisa, additional, De Fusco, Maurizio, additional, Politi, Fausta, additional, Parrini, Elena, additional, Manfredi, Irene, additional, Pisano, Tiziana, additional, Pruna, Dario, additional, Curia, Giulia, additional, Cianchetti, Carlo, additional, Pasqualetti, Massimo, additional, Becchetti, Andrea, additional, Guerrini, Renzo, additional, and Casari, Giorgio, additional

Published
2006
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14. Evaluation of damaging effects of splicing mutations: Validation of an in vitro method for diagnostic laboratories

Author

Chiara Di Resta, Gabriele Siciliano, Sara Benedetti, Maurizio Ferrari, Martina Manzoni, Massimo Zoni Berisso, DI RESTA, Chiara, Manzoni, M, Berisso Zoni Berisso, M, Siciliano, G, Benedetti, S, and Ferrari, Maurizio

Subjects
Expression vectors, Male, In vitro studies, RNA Splicing, In silico, Clinical Biochemistry, Biology, medicine.disease_cause, Biochemistry, LMNA, Young Adult, Exon, Minigene, medicine, Humans, Computer Simulation, Gene, Genetics, Mutation, Base Sequence, Splicing defects, Clinical Laboratory Techniques, Medicine (all), Biochemistry (medical), Exons, General Medicine, RNA analysis, Middle Aged, Lamin Type A, RNA splicing, In silico tools, Ex vivo
Abstract

Background Pre-mRNA splicing defects may have an important impact on clinical phenotype in several diseases, but often their pathogenic role is difficult to demonstrate. The aim of this study was to validate an in vitro method to assess the effects of putative splicing variants. Materials and methods We studied three novel variants in vitro using a novel minigene approach and compared results with in silico and ex vivo strategies from patient samples. Results For the c.1146C>T variant in the LMNA gene, in vitro and ex vivo studies were concordant with the prediction obtained by in silico tools, confirming the loss of 13 bp at the end of exon 6. In the second case (c.1140+1G>A, SCN5A gene), in vitro experiments identified the insertion of 94 intronic bp in exon 9 as well as exon 9 skipping, but these results were not correctly predicted by ex vivo data and in silico tools. In the third case (c.1608+1C>T, LMNA gene) in vitro and ex vivo studies suggested the recognition of an exonic cryptic site leading to the loss of 29 bp in exon 9, not predicted by in silico analysis. Conclusion Our results revealed how in silico tools are often unreliable requiring “wet” RNA analysis. Since ex vivo studies are not always feasible, the use of an in vitro construct represents an efficient and useful method for the evaluation of damaging effects of unknown splicing variants, especially in diagnostic laboratories.

Published
2014
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