A developmental role of the cystic fibrosis transmembrane conductance regulator in cystic fibrosis lung disease pathogenesis

EN Huang, H Quach, JA Lee, J Dierolf… - Frontiers in Cell and …, 2021 - frontiersin.org
The cystic fibrosis (CF) transmembrane conductance regulator (CFTR) protein is a cAMP-
activated anion channel that is critical for regulating fluid and ion transport across the …

A transcription factor network represses CFTR gene expression in airway epithelial cells

MJ Mutolo, SH Leir, SL Fossum, JA Browne… - Biochemical …, 2018 - portlandpress.com
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause
the inherited disorder cystic fibrosis (CF). Lung disease is the major cause of CF morbidity …

Pulmonary vascular dysfunctions in cystic fibrosis

JP Amoakon, G Mylavarapu, RS Amin… - Physiology, 2024 - journals.physiology.org
Cystic fibrosis (CF) is an inherited disorder caused by a deleterious mutation in the cystic
fibrosis transmembrane conductance regulator (CFTR) gene. Given that the CFTR protein is …

Pathophysiology of cystic fibrosis lung disease

MA Mall, RC Boucher - Cystic fibrosis. European Respiratory …, 2014 - books.google.com
Chronic obstructive lung disease starting in the first months of life remains the major cause
of morbidity and mortality in patients with cystic fibrosis (CF). The discovery of the cystic …

In Utero Mapping and Development Role of CFTR in Lung and Gastrointestinal Tract of Cystic Fibrosis Patients

D Li, XX Han, M Habgood… - ACS Pharmacology & …, 2023 - ACS Publications
In cystic fibrosis (CF) the ability of the CF transmembrane conductance regulator (CFTR)
protein to mediate chloride and water transport is disrupted. While much progress has been …

CFTR: cystic fibrosis and beyond

MA Mall, D Hartl - 2014 - Eur Respiratory Soc
Cystic fibrosis (CF) remains the most common fatal hereditary lung disease. The discovery of
the cystic fibrosis transmembrane conductance regulator (CFTR) gene 25 years ago set the …

Future directions in early cystic fibrosis lung disease research: an NHLBI workshop report

BW Ramsey, S Banks-Schlegel, FJ Accurso… - American journal of …, 2012 - atsjournals.org
Since the 1989 discovery that mutations in the cystic fibrosis transmembrane conductance
regulator (CFTR) gene cause cystic fibrosis (CF), there has been substantial progress …

Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction

S Zacarias, MSP Batista, SS Ramalho… - International Journal of …, 2023 - mdpi.com
Cystic Fibrosis (CF) is a genetic disease caused by mutations in the gene encoding the
Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) channel. Currently, more …

Understanding how cystic fibrosis mutations disrupt CFTR function: from single molecules to animal models

Y Wang, JA Wrennall, Z Cai, H Li… - The international journal of …, 2014 - Elsevier
Defective epithelial ion transport is the hallmark of the life-limiting genetic disease cystic
fibrosis (CF). This abnormality is caused by mutations in the cystic fibrosis transmembrane …

[HTML][HTML] Regulating the barrier function of airway epithelia. A novel role for CFTR–does it make a difference this time?

O Baldursson - The Journal of Physiology, 2010 - ncbi.nlm.nih.gov
In patients with cystic fibrosis (CF), it is extraordinary that defects in a chloride channel
scarcely expressed in airway epithelia, produce severe bronchial infections and eventually …