An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A

por Balestra, Dario, Maestri, Iva, Branchini, Alessio, Ferrarese, Mattia, Bernardi, Francesco, Pinotti, Mirko
Publicado 2019

Counteracting the Common Shwachman–Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing

por Peretto, Laura, Tonetto, Elena, Maestri, Iva, Bezzerri, Valentino, Valli, Roberto, Cipolli, Marco, Pinotti, Mirko, Balestra, Dario
Publicado 2023

NLRP1 polymorphisms in patients with asbestos-associated mesothelioma

por Girardelli, Martina, Maestri, Iva, Rinaldi, Rosa R, Tognon, Mauro, Boldorini, Renzo, Bovenzi, Massimo, Crovella, Sergio, Comar, Manola
Publicado 2012

Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant

por Cavallari, Nicola, Balestra, Dario, Branchini, Alessio, Maestri, Iva, Chuamsunrit, Ampaiwan, Sasanakul, Werasak, Mariani, Guglielmo, Pagani, Franco, Bernardi, Francesco, Pinotti, Mirko
Publicado 2012

Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency

por Ferraresi, Paolo, Balestra, Dario, Guittard, Caroline, Buthiau, Delphine, Pan-Petesh, Brigitte, Maestri, Iva, Farah, Roula, Pinotti, Mirko, Giansily-Blaizot, Muriel
Publicado 2020

Cis-Segregation of c.1171C>T Stop Codon (p.R391*) in SERPINC1 Gene and c.1691G>A Transition (p.R506Q) in F5 Gene and Selected GWAS Multilocus Approach in Inherited Thrombophilia

por Gemmati, Donato, Longo, Giovanna, Franchini, Eugenia, Araujo Silva, Juliana, Gallo, Ines, Lunghi, Barbara, Moratelli, Stefano, Maestri, Iva, Serino, Maria Luisa, Tisato, Veronica
Publicado 2021

Case report: Tissue positivity for SARS-CoV-2 in a preterm born infant death of thrombosis: possible intrauterine transmission

por Greco, Salvatore, Sanz, Juana Maria, Bortolotti, Daria, Semprini, Chiara Marina, Braga, Carlotta, Gafà, Roberta, Santi, Erica, Maestri, Iva, Rizzo, Roberta, Greco, Pantaleo, Passaro, Angelina
Publicado 2023

OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spf(ash) mice, and govern susceptibility to RNA-based therapies

por Sacchetto, Claudia, Peretto, Laura, Baralle, Francisco, Maestri, Iva, Tassi, Francesca, Bernardi, Francesco, van de Graaf, Stan F. J., Pagani, Franco, Pinotti, Mirko, Balestra, Dario
Publicado 2021

Monitoring Somatic Genetic Alterations in Circulating Cell-Free DNA/RNA of Patients with “Oncogene-Addicted” Advanced Lung Adenocarcinoma: A Real-World Clinical Study

por Lupini, Laura, Roncarati, Roberta, Belluomini, Lorenzo, Lancia, Federica, Bassi, Cristian, D’Abundo, Lucilla, Michilli, Angelo, Guerriero, Paola, Fasano, Alessandra, Tiberi, Elisa, Salamone, Andrea, Cosi, Donato Michele, Saccenti, Elena, Tagliatti, Valentina, Maestri, Iva, Sabbioni, Silvia, Volinia, Stefano, Gafà, Roberta, Lanza, Giovanni, Frassoldati, Antonio, Negrini, Massimo
Publicado 2022