Quantitative Evaluation of CFTR Pre-mRNA Splicing Dependent on the (TG)mTn Poly-Variant Tract

by Manuela Sterrantino, Andrea Fuso, Silvia Pierandrei, Sabina Maria Bruno, Giancarlo Testino, Giuseppe Cimino, Antonio Angeloni, Marco Lucarelli
Published 2021-01-01

DNA Methylation Patterns Correlate with the Expression of <i>SCNN1A</i>, <i>SCNN1B</i>, and <i>SCNN1G</i> (Epithelial Sodium Channel, ENaC) Genes

by Silvia Pierandrei, Gessica Truglio, Fabrizio Ceci, Paola Del Porto, Sabina Maria Bruno, Stefano Castellani, Massimo Conese, Fiorentina Ascenzioni, Marco Lucarelli
Published 2021-04-01

CRMS/CFSPID Subjects Carrying D1152H CFTR Variant: Can the Second Variant be a Predictor of Disease Development?

by Vito Terlizzi, Rita Padoan, Laura Claut, Carla Colombo, Benedetta Fabrizzi, Marco Lucarelli, Sabina Maria Bruno, Alice Castaldo, Paolo Bonomi, Giovanni Taccetti, Antonella Tosco
Published 2020-12-01

A novel mutation in ABCA1 gene causing Tangier Disease in an Italian family with uncommon neurological presentation

by Marco Ceccanti, Chiara Cambieri, Vittorio Frasca, Emanuela Onesti, Antonella Biasotta, Carla Giordano, Sabina Maria Bruno, Giancarlo Testino, Marco Lucarelli, Marcello Arca, Maurizio Inghilleri
Published 2016-11-01