Assays of CFTR Function In Vitro, Ex Vivo and In Vivo

Rescue of multiple class II CFTR mutations by elexacaftor+ tezacaftor+ivacaftor mediated in part by the dual activities of Elexacaftor as both corrector and potentiator

(2021) Onofrio Laselva et al.   EUROPEAN RESPIRATORY JOURNAL

Targeting G542X CFTR nonsense alleles with ELX-02 restores CFTR function in human-derived intestinal organoids

(2021) Daniel K. Crawford et al.   Journal of Cystic Fibrosis

Patient personalized translational tools in Cystic fibrosis to transform data from bench to bed-side and back

(2021) Kavisha Arora et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Nasal Epithelial Cell-Based Models for Individualized Study in Cystic Fibrosis

(2021) Duncan Keegan et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Rectal organoid morphology analysis (ROMA) as a promising diagnostic tool in cystic fibrosis

(2021) Senne Cuyx et al.   THORAX

On the Corner of Models and Cure: Gene Editing in Cystic Fibrosis

(2021) Marjolein Ensinck et al.   Frontiers in Pharmacology

Personalized Medicine Based on Nasal Epithelial Cells: Comparative Studies with Rectal Biopsies and Intestinal Organoids

(2021) Iris A. L. Silva et al.   Journal of Personalized Medicine

Needle-free iontophoresis-driven β-adrenergic sweat rate test

(2021) Audrey Reynaerts et al.   Journal of Cystic Fibrosis

Cystic fibrosis

(2021) Michal Shteinberg et al.   LANCET

Correlating genotype with phenotype using CFTR‐mediated whole‐cell Cl − currents in human nasal epithelial cells

(2021) Sabrina Noel et al.   JOURNAL OF PHYSIOLOGY-LONDON

Generation of functional ciliated cholangiocytes from human pluripotent stem cells

(2021) Mina Ogawa et al.   Nature Communications

Measurements of spontaneous CFTR-mediated ion transport without acute channel activation in airway epithelial cultures after modulator exposure

(2021) Heidi J. Nick et al.   Scientific Reports

A new platform for high-throughput therapy testing on iPSC-derived lung progenitor cells from cystic fibrosis patients

(2021) Jia Xin Jiang et al.   Stem Cell Reports

CFTR Protein: Not Just a Chloride Channel?

(2021) Laurence S. Hanssens et al.   Cells

CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine

(2020) Miquéias Lopes-Pacheco   Frontiers in Pharmacology

The preclinical discovery and development of the combination of ivacaftor + tezacaftor used to treat cystic fibrosis

(2020) Lorenzo Guerra et al.   Expert Opinion on Drug Discovery

Phenotyping of Rare CFTR Mutations Reveals Distinct Trafficking and Functional Defects

(2020) Marjolein Ensinck et al.   Cells

Correction of CFTR function in intestinal organoids to guide treatment of Cystic Fibrosis

(2020) Anabela S. Ramalho et al.   EUROPEAN RESPIRATORY JOURNAL

CFTR modulator therapy for cystic fibrosis caused by the rare c.3700A>G mutation

(2020) Puay-Wah Phuan et al.   Journal of Cystic Fibrosis

The CFTR Mutation c.3453G > C (D1152H) Confers an Anion Selectivity Defect in Primary Airway Tissue that Can be Rescued by Ivacaftor

(2020) Onofrio Laselva et al.   Journal of Personalized Medicine

Fluorescence assay for simultaneous quantification of CFTR ion-channel function and plasma membrane proximity

(2020) Stella Prins et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Allosteric folding correction of F508del and rare CFTR mutants by elexacaftor-tezacaftor-ivacaftor (Trikafta) combination

(2020) Guido Veit et al.   JCI Insight

Animal and Cell Culture Models for Cystic Fibrosis

(2020) Alexandra McCarron et al.   AMERICAN JOURNAL OF PATHOLOGY

Long‐term expanding human airway organoids for disease modeling

(2019) Norman Sachs et al.   EMBO JOURNAL

Rectal Organoids Enable Personalized Treatment of Cystic Fibrosis

(2019) Gitte Berkers et al.   Cell Reports

Correlating CFTR Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis

(2019) Allison F McCague et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Theranostics by testing CFTR modulators in patient-derived materials: The current status and a proposal for subjects with rare CFTR mutations

(2019) Margarida D. Amaral et al.   Journal of Cystic Fibrosis

Image-based β-adrenergic sweat rate assay captures minimal cystic fibrosis transmembrane conductance regulator function

(2019) Danieli Barino Salinas et al.   PEDIATRIC RESEARCH

Insights into the variability of nasal potential difference, a biomarker of CFTR activity

(2019) Spyridoula Kyrilli et al.   Journal of Cystic Fibrosis

Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial

(2019) Harry G M Heijerman et al.   LANCET

Elexacaftor–Tezacaftor–Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele

(2019) Peter G. Middleton et al.   NEW ENGLAND JOURNAL OF MEDICINE

Treating the Underlying Cystic Fibrosis Transmembrane Conductance Regulator Defect in Patients with Cystic Fibrosis

(2019) Senne Cuyx et al.   SEMINARS IN RESPIRATORY AND CRITICAL CARE MEDICINE

Effects of Lumacaftor–Ivacaftor Therapy on Cystic Fibrosis Transmembrane Conductance Regulator Function in Phe508del Homozygous Patients with Cystic Fibrosis

(2018) Simon Y. Graeber et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Hollow Micropillar Array Method for High-Capacity Drug Screening on Filter-Grown Epithelial Cells

(2018) Byung-Ju Jin et al.   ANALYTICAL CHEMISTRY

Ratiometric sweat secretion optical test in cystic fibrosis, carriers and healthy subjects

(2018) Gabriella Bergamini et al.   Journal of Cystic Fibrosis

Comparison of ex vivo and in vitro intestinal cystic fibrosis models to measure CFTR-dependent ion channel activity

(2018) Domenique D. Zomer-van Ommen et al.   Journal of Cystic Fibrosis

Recent progress in translational cystic fibrosis research using precision medicine strategies

(2018) Deborah M. Cholon et al.   Journal of Cystic Fibrosis

CFTR modulator theratyping: Current status, gaps and future directions

(2018) John Paul Clancy et al.   Journal of Cystic Fibrosis

Discovery of N-(3-Carbamoyl-5,5,7,7-tetramethyl-5,7-dihydro-4H-thieno[2,3-c]pyran-2-yl)-lH-pyrazole-5-carboxamide (GLPG1837), a Novel Potentiator Which Can Open Class III Mutant Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Channels to a High Extent

(2018) Steven E. Van der Plas et al.   JOURNAL OF MEDICINAL CHEMISTRY

Lipid Nanoparticle-Delivered Chemically Modified mRNA Restores Chloride Secretion in Cystic Fibrosis

(2018) Ema Robinson et al.   MOLECULAR THERAPY

Stratifying infants with cystic fibrosis for disease severity using intestinal organoid swelling as a biomarker of CFTR function

(2018) Karin M. de Winter-de Groot et al.   EUROPEAN RESPIRATORY JOURNAL

Structure-guided combination therapy to potently improve the function of mutant CFTRs

(2018) Guido Veit et al.   NATURE MEDICINE

Standardized Measurement of Nasal Membrane Transepithelial Potential Difference (NPD)

(2018) George M. Solomon et al.   Jove-Journal of Visualized Experiments

Antisense oligonucleotide eluforsen improves CFTR function in F508del cystic fibrosis

(2018) Isabelle Sermet-Gaudelus et al.   Journal of Cystic Fibrosis

VX-445–Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles

(2018) Dominic Keating et al.   NEW ENGLAND JOURNAL OF MEDICINE

Human Primary Epithelial Cell Models: Promising Tools in the Era of Cystic Fibrosis Personalized Medicine

(2018) Nikhil T. Awatade et al.   Frontiers in Pharmacology

Correlation of sweat chloride and percent predicted FEV1 in cystic fibrosis patients treated with ivacaftor

(2017) Meredith C. Fidler et al.   Journal of Cystic Fibrosis

Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation

(2017) Philip M. Farrell et al.   JOURNAL OF PEDIATRICS

Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del

(2017) Jennifer L. Taylor-Cousar et al.   NEW ENGLAND JOURNAL OF MEDICINE

In vivo and in vitro ivacaftor response in cystic fibrosis patients with residual CFTR function: N-of-1 studies

(2017) Meghan E. McGarry et al.   PEDIATRIC PULMONOLOGY

Both Ways at Once: Keeping Small Airways Clean

(2017) Paul M. Quinton   PHYSIOLOGY

Low Beta-Adrenergic Sweat Responses in Cystic Fibrosis and Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome Children

(2017) Danieli Barino Salinas et al.   Pediatric Allergy Immunology and Pulmonology

Correction of CFTR function in nasal epithelial cells from cystic fibrosis patients predicts improvement of respiratory function by CFTR modulators

(2017) Iwona M. Pranke et al.   Scientific Reports

Phenotypic profiling of CFTR modulators in patient-derived respiratory epithelia

(2017) Saumel Ahmadi et al.   npj Genomic Medicine

rAAV-CFTRΔR Rescues the Cystic Fibrosis Phenotype in Human Intestinal Organoids and Cystic Fibrosis Mice

(2016) Dragana Vidović et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

A novel treatment of cystic fibrosis acting on-target: cysteamine plus epigallocatechin gallate for the autophagy-dependent rescue of class II-mutated CFTR

(2016) A Tosco et al.   CELL DEATH AND DIFFERENTIATION

Role of CFTR in epithelial physiology

(2016) Vinciane Saint-Criq et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

A semi-blinded study comparing 2 methods of measuring nasal potential difference: Subcutaneous needle versus dermal abrasion

(2016) E. De Wachter et al.   Journal of Cystic Fibrosis

Comparative ex vivo , in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations

(2016) Anabela S. Ramalho et al.   Journal of Cystic Fibrosis

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

(2016) Gudio Veit et al.   MOLECULAR BIOLOGY OF THE CELL

Characterizing responses to CFTR-modulating drugs using rectal organoids derived from subjects with cystic fibrosis

(2016) Johanna F. Dekkers et al.   Science Translational Medicine

Progress in therapies for cystic fibrosis

(2016) Kris De Boeck et al.   Lancet Respiratory Medicine

Evaporimeter and Bubble-Imaging Measures of Sweat Gland Secretion Rates

(2016) Jeeyeon Kim et al.   PLoS One

Intestinal Current Measurements Detect Activation of Mutant CFTR in Patients with Cystic Fibrosis with the G551D Mutation Treated with Ivacaftor

(2015) Simon Y. Graeber et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Improved repeatability of nasal potential difference with a larger surface catheter

(2015) François Vermeulen et al.   Journal of Cystic Fibrosis

Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation

(2014) Daniela De Stefano et al.   Autophagy

Genetic, cell biological and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention

(2014) Steven V. Molinski et al.   GENETICS IN MEDICINE

Targeted Proteomic Quantitation of the Absolute Expression and Turnover of Cystic Fibrosis Transmembrane Conductance Regulator in the Apical Plasma Membrane

(2014) Adam J. McShane et al.   JOURNAL OF PROTEOME RESEARCH

Novel outcome measures for clinical trials in cystic fibrosis

(2014) Harm A.W.M. Tiddens et al.   PEDIATRIC PULMONOLOGY

A Little CFTR Goes a Long Way: CFTR-Dependent Sweat Secretion from G551D and R117H-5T Cystic Fibrosis Subjects Taking Ivacaftor

(2014) Jessica E. Char et al.   PLoS One

Change in Sweat Chloride as a Clinical End Point in Cystic Fibrosis Clinical Trials

(2013) Anthony G. Durmowicz et al.   CHEST

Trying to find a cure for cystic fibrosis: CFTR biomarkers as outcomes

(2013) Kris De Boeck   EUROPEAN RESPIRATORY JOURNAL

Sweat chloride as a biomarker of CFTR activity: Proof of concept and ivacaftor clinical trial data

(2013) Frank J. Accurso et al.   Journal of Cystic Fibrosis

A functional CFTR assay using primary cystic fibrosis intestinal organoids

(2013) Johanna F Dekkers et al.   NATURE MEDICINE

Multicenter Intestinal Current Measurements in Rectal Biopsies from CF and Non-CF Subjects to Monitor CFTR Function

(2013) John P. Clancy et al.   PLoS One

In Vivo Readout of CFTR Function: Ratiometric Measurement of CFTR-Dependent Secretion by Individual, Identifiable Human Sweat Glands

(2013) Jeffrey J. Wine et al.   PLoS One

β-Adrenergic Sweat Secretion as a Diagnostic Test for Cystic Fibrosis

(2012) Paul Quinton et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Rescue of the mutant CFTR chloride channel by pharmacological correctors and low temperature analyzed by gene expression profiling

(2011) Elvira Sondo et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

A CFTR Potentiator in Patients with Cystic Fibrosis and theG551DMutation

(2011) Bonnie W. Ramsey et al.   NEW ENGLAND JOURNAL OF MEDICINE

The K+ Channel Opener 1-EBIO Potentiates Residual Function of Mutant CFTR in Rectal Biopsies from Cystic Fibrosis Patients

(2011) Eva K. Roth et al.   PLoS One

Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809

(2011) F. Van Goor et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ussing's “Little Chamber”: 60 Years+ Old and Counting

(2011) Kirk L. Hamilton   Frontiers in Physiology

Effect of VX-770 in Persons with Cystic Fibrosis and the G551D-CFTRMutation

(2010) Frank J. Accurso et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nasal potential measurements on the nasal floor and under the inferior turbinate: Does it matter?

(2010) François Vermeulen et al.   PEDIATRIC PULMONOLOGY

Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data

(2010) N. Derichs et al.   THORAX

Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis

(2010) I. Sermet-Gaudelus et al.   THORAX

On the measurement of the functional properties of the CFTR

(2008) Oscar Moran et al.   Journal of Cystic Fibrosis