The future of cystic fibrosis care: a global perspective
Executive summary The past six decades have seen remarkable improvements in health
outcomes for people with cystic fibrosis, which was once a fatal disease of infants and young …
outcomes for people with cystic fibrosis, which was once a fatal disease of infants and young …
[HTML][HTML] CFTR modulators: the changing face of cystic fibrosis in the era of precision medicine
M Lopes-Pacheco - Frontiers in pharmacology, 2020 - frontiersin.org
Cystic fibrosis (CF) is a lethal inherited disease caused by mutations in the CF
transmembrane conductance regulator (CFTR) gene, which result in impairment of CFTR …
transmembrane conductance regulator (CFTR) gene, which result in impairment of CFTR …
Lumacaftor–Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR
CE Wainwright, JS Elborn, BW Ramsey… - … England Journal of …, 2015 - Mass Medical Soc
Background Cystic fibrosis is a life-limiting disease that is caused by defective or deficient
cystic fibrosis transmembrane conductance regulator (CFTR) protein activity. Phe508del is …
cystic fibrosis transmembrane conductance regulator (CFTR) protein activity. Phe508del is …
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 …
(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 …
genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian …
A functional CFTR assay using primary cystic fibrosis intestinal organoids
JF Dekkers, CL Wiegerinck, HR De Jonge… - Nature medicine, 2013 - nature.com
We recently established conditions allowing for long-term expansion of epithelial organoids
from intestine, recapitulating essential features of the in vivo tissue architecture. Here we …
from intestine, recapitulating essential features of the in vivo tissue architecture. Here we …
[HTML][HTML] Cystic fibrosis: current therapeutic targets and future approaches
Objectives Study of currently approved drugs and exploration of future clinical development
pipeline therapeutics for cystic fibrosis, and possible limitations in their use. Methods …
pipeline therapeutics for cystic fibrosis, and possible limitations in their use. Methods …
A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 …
Background The phe508del CFTR mutation causes cystic fibrosis by limiting the amount of
CFTR protein that reaches the epithelial cell surface. We tested combination treatment with …
CFTR protein that reaches the epithelial cell surface. We tested combination treatment with …
Assessment of safety and efficacy of long-term treatment with combination lumacaftor and ivacaftor therapy in patients with cystic fibrosis homozygous for the F508del …
Background The 24-week safety and efficacy of lumacaftor/ivacaftor combination therapy
was shown in two randomised controlled trials (RCTs)—TRAFFIC and TRANSPORT—in …
was shown in two randomised controlled trials (RCTs)—TRAFFIC and TRANSPORT—in …
[HTML][HTML] Cystic fibrosis modulator therapies
S Jia, JL Taylor-Cousar - Annual review of medicine, 2023 - annualreviews.org
Cystic fibrosis (CF) is an inherited multisystemic disease that can cause progressive
bronchiectasis, pancreatic endocrine and exocrine insufficiency, distal intestinal obstruction …
bronchiectasis, pancreatic endocrine and exocrine insufficiency, distal intestinal obstruction …