From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations

G Veit, RG Avramescu, AN Chiang… - Molecular biology of …, 2016 - Am Soc Cell Biol
More than 2000 mutations in the cystic fibrosis transmembrane conductance regulator
(CFTR) have been described that confer a range of molecular cell biological and functional …

Cystic fibrosis genetics: from molecular understanding to clinical application

GR Cutting - Nature Reviews Genetics, 2015 - nature.com
The availability of the human genome sequence and tools for interrogating individual
genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian …

Origins of cystic fibrosis lung disease

DA Stoltz, DK Meyerholz, MJ Welsh - New England Journal of …, 2015 - Mass Medical Soc
Mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator
undermine many host defense systems by inhibiting the function of airway-surface liquid …

[HTML][HTML] CFTR protein: not just a chloride channel?

LS Hanssens, J Duchateau, GJ Casimir - Cells, 2021 - mdpi.com
Cystic fibrosis (CF) is a recessive genetic disease caused by mutations in a gene encoding
a protein called Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). The CFTR …

The innate immune function of airway epithelial cells in inflammatory lung disease

PS Hiemstra, PB McCray, R Bals - European respiratory …, 2015 - Eur Respiratory Soc
The airway epithelium is now considered to be central to the orchestration of pulmonary
inflammatory and immune responses, and is also key to tissue remodelling. It acts as the first …

Reduced airway surface pH impairs bacterial killing in the porcine cystic fibrosis lung

AA Pezzulo, XX Tang, MJ Hoegger, MH Abou Alaiwa… - Nature, 2012 - nature.com
Cystic fibrosis (CF) is a life-shortening disease caused by mutations in the cystic fibrosis
transmembrane conductance regulator (CFTR) gene. Although bacterial lung infection and …

A review of cystic fibrosis: Basic and clinical aspects

Q Chen, Y Shen, J Zheng - Animal models and experimental …, 2021 - Wiley Online Library
Cystic fibrosis is an autosomal recessive disease caused by mutations of the gene encoding
the cystic fibrosis transmembrane conductance regulator (CFTR). Here we summarize, at the …

Structure, gating, and regulation of the CFTR anion channel

L Csanády, P Vergani, DC Gadsby - Physiological reviews, 2019 - journals.physiology.org
The cystic fibrosis transmembrane conductance regulator (CFTR) belongs to the ATP
binding cassette (ABC) transporter superfamily but functions as an anion channel crucial for …

Cystic fibrosis: a mucosal immunodeficiency syndrome

TS Cohen, A Prince - Nature medicine, 2012 - nature.com
Cystic fibrosis transmembrane conductance regulator (CFTR) functions as a channel that
regulates the transport of ions and the movement of water across the epithelial barrier …

[HTML][HTML] Acidic pH increases airway surface liquid viscosity in cystic fibrosis

XX Tang, LS Ostedgaard, MJ Hoegger… - The Journal of …, 2016 - Am Soc Clin Investig
Cystic fibrosis (CF) disrupts respiratory host defenses, allowing bacterial infection,
inflammation, and mucus accumulation to progressively destroy the lungs. Our previous …