Understanding CFTR Functionality: A Comprehensive Review of Tests and Modulator Therapy in Cystic Fibrosis

S Thakur, Ankita, S Dash, R Verma, C Kaur… - Cell Biochemistry and …, 2024 - Springer
Cystic fibrosis is a genetic disorder inherited in an autosomal recessive manner. It is caused
by a mutation in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene …

Diagnosing Cystic Fibrosis in the 21st Century—A Complex and Challenging Task

DT Anton-Păduraru, AN Azoicăi, F Trofin, DE Mîndru… - Diagnostics, 2024 - mdpi.com
Cystic fibrosis (CF) is a chronic and potentially life-threatening condition, wherein timely
diagnosis assumes paramount significance for the prompt initiation of therapeutic …

Molecular diagnosis of cystic fibrosis

ML Fulmer, Y Si, DH Best - Diagnostic Molecular Pathology, 2024 - Elsevier
Cystic fibrosis is one of the most common life-threatening autosomal recessive disorders
among individuals of European Caucasian descent. As a result, genetic testing for …

Investigation of a selective transglutaminase 2 antagonist as a novel therapeutic agent for cystic fibrosis

J Gavin - 2021 - publications.aston.ac.uk
Cystic fibrosis (CF) is a genetic disorder, characterised by the presence of a dysfunctional
cystic fibrosis transmembrane conductance regulator (CFTR) protein. Currently approved …