Article
Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators.
International journal of molecular sciences - 31 Mar 2023
Terlizzi Vito, Pesce Emanuela, Capurro Valeria, Tomati Valeria, Lena Mariateresa, Pastorino Cristina, Bocciardi Renata, Zara Federico, Centrone Claudia, Taccetti Giovanni, Castellani Carlo, Pedemonte Nicoletta
Abstract excerpt
S737F is a Cystic Fibrosis (CF) transmembrane conductance regulator (CFTR) missense variant. The aim of our study was to describe the clinical features of a cohort of individuals carrying this variant. In parallel, by exploiting ex vivo functional and molecular analyses on nasal epithelia derived from a subset of S737F carriers, we evaluated its functional impact on CFTR protein as well as its responsiveness to...
Topics
- Adult
- Humans
- Adolescent
- Cystic Fibrosis Transmembrane Conductance Regulator
- Cystic Fibrosis
- Retrospective Studies
- Benzodioxoles
- Nasal Mucosa
- Cell Line
- Mutation