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 …

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 …

[HTML][HTML] Prediction of prime editing insertion efficiencies using sequence features and DNA repair determinants

J Koeppel, J Weller, EM Peets, A Pallaseni… - Nature …, 2023 - nature.com
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 …

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 …

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 …

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 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) …

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 …

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 …

[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 …