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 …
Progress in therapies for cystic fibrosis
K De Boeck, MD Amaral - The Lancet Respiratory Medicine, 2016 - thelancet.com
Standard follow-up and symptomatic treatment have allowed most patients with cystic
fibrosis to live to young adulthood. However, many patients still die prematurely from …
fibrosis to live to young adulthood. However, many patients still die prematurely from …
[HTML][HTML] Prediction of prime editing insertion efficiencies using sequence features and DNA repair determinants
Most short sequences can be precisely written into a selected genomic target using prime
editing; however, it remains unclear what factors govern insertion. We design a library of …
editing; however, it remains unclear what factors govern insertion. We design a library of …
Longevity of patients with cystic fibrosis in 2000 to 2010 and beyond: survival analysis of the Cystic Fibrosis Foundation patient registry
T MacKenzie, AH Gifford, KA Sabadosa… - Annals of internal …, 2014 - acpjournals.org
Background: Advances in treatments for cystic fibrosis (CF) continue to extend survival. An
updated estimate of survival is needed for better prognostication and to anticipate evolving …
updated estimate of survival is needed for better prognostication and to anticipate evolving …
Cystic fibrosis: a clinical view
C Castellani, BM Assael - Cellular and molecular life sciences, 2017 - Springer
Cystic fibrosis (CF), a monogenic disease caused by mutations in the CFTR gene on
chromosome 7, is complex and greatly variable in clinical expression. Airways, pancreas …
chromosome 7, is complex and greatly variable in clinical expression. Airways, pancreas …
Structure, gating, and regulation of the CFTR anion channel
The cystic fibrosis transmembrane conductance regulator (CFTR) belongs to the ATP
binding cassette (ABC) transporter superfamily but functions as an anion channel crucial for …
binding cassette (ABC) transporter superfamily but functions as an anion channel crucial for …
Cystic fibrosis: A worldwide analysis of CFTR mutations—correlation with incidence data and application to screening
JL Bobadilla, M Macek Jr, JP Fine… - Human mutation, 2002 - Wiley Online Library
Although there have been numerous reports from around the world of mutations in the gene
of chromosome 7 known as CFTR (cystic fibrosis transmembrane conductance regulator) …
of chromosome 7 known as CFTR (cystic fibrosis transmembrane conductance regulator) …
Chronic pancreatitis: diagnosis, classification, and new genetic developments
B Etemad, DC Whitcomb - Gastroenterology, 2001 - Elsevier
The utilization of recent advances in molecular and genomic technologies and progress in
pancreatic imaging techniques provided remarkable insight into genetic, environmental …
pancreatic imaging techniques provided remarkable insight into genetic, environmental …
CFTR modulator therapy: transforming the landscape of clinical care in cystic fibrosis
JL Taylor-Cousar, PD Robinson, M Shteinberg… - The Lancet, 2023 - thelancet.com
Following discovery of the cystic fibrosis transmembrane conductance regulator (CFTR)
gene in 1989 and subsequent elucidation of the varied CFTR protein abnormalities that …
gene in 1989 and subsequent elucidation of the varied CFTR protein abnormalities that …
[HTML][HTML] Recommendations for the classification of diseases as CFTR-related disorders
C Bombieri, M Claustres, K De Boeck, N Derichs… - Journal of Cystic …, 2011 - Elsevier
Several diseases have been clinically or genetically related to cystic fibrosis (CF), but a
consensus definition is lacking. Here, we present a proposal for consensus guidelines on …
consensus definition is lacking. Here, we present a proposal for consensus guidelines on …