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Your search keyword '"Di Resta, Chiara"' showing total 7 results
Start Over Author "Di Resta, Chiara" Journal clinica chimica acta
7 results on '"Di Resta, Chiara"'

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

Author

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

Published
2015
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6. 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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7. 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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