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

Anti-Infectives Restore ORKAMBI® Rescue of F508del-CFTR Function in Human Bronchial Epithelial Cells Infected with Clinical Strains of P. aeruginosa

(2020) Onofrio Laselva et al.   Biomolecules

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

Lumacaftor-rescued F508del-CFTR has a modified bicarbonate permeability

(2019) Loretta Ferrera et al.   Journal of Cystic Fibrosis

Cholesterol Interaction Directly Enhances Intrinsic Activity of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)

(2019) Chin et al.   Cells

ORKAMBI-Mediated Rescue of Mucociliary Clearance in Cystic Fibrosis Primary Respiratory Cultures Is Enhanced by Arginine Uptake, Arginase Inhibition, and Promotion of Nitric Oxide Signaling to the Cystic Fibrosis Transmembrane Conductance Regulator Channel

(2019) Yu-Sheng Wu et al.   MOLECULAR PHARMACOLOGY

VX-770-mediated potentiation of numerous human CFTR disease mutants is influenced by phosphorylation level

(2019) Guiying Cui et al.   Scientific Reports

Functional rescue of c.3846G>A (W1282X) in patient-derived nasal cultures achieved by inhibition of nonsense mediated decay and protein modulators with complementary mechanisms of action

(2019) Onofrio Laselva et al.   Journal of Cystic Fibrosis

Correctors of the Major Cystic Fibrosis Mutant Interact through Membrane-Spanning Domains

(2018) Onofrio Laselva et al.   MOLECULAR PHARMACOLOGY

Comprehensive mapping of cystic fibrosis mutations to CFTR protein identifies mutation clusters and molecular docking predicts corrector binding site

(2018) Steven V. Molinski et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Molecular Mechanism of Action of Trimethylangelicin Derivatives as CFTR Modulators

(2018) Onofrio Laselva et al.   Frontiers in Pharmacology

The CF Canada-Sick Kids Program in individual CF therapy: A resource for the advancement of personalized medicine in CF

(2018) Paul D.W. Eckford et al.   Journal of Cystic Fibrosis

Phenotypic profiling of CFTR modulators in patient-derived respiratory epithelia

(2017) Saumel Ahmadi et al.   npj Genomic Medicine

The investigational Cystic Fibrosis drug Trimethylangelicin directly modulates CFTR by stabilizing the first membrane-spanning domain

(2016) Onofrio Laselva et al.   BIOCHEMICAL PHARMACOLOGY

Clinical expression of patients with the D1152H CFTR mutation

(2015) Vito Terlizzi et al.   Journal of Cystic Fibrosis

CFTR, bicarbonate, and the pathophysiology of cystic fibrosis

(2015) Drucy Borowitz   PEDIATRIC PULMONOLOGY

Mechanisms of CFTR Functional Variants That Impair Regulated Bicarbonate Permeation and Increase Risk for Pancreatitis but Not for Cystic Fibrosis

(2014) Jessica LaRusch et al.   PLoS Genetics

Conformational defects underlie proteasomal degradation of Dent's disease-causing mutants of ClC-5

(2013) Christina D’Antonio et al.   BIOCHEMICAL JOURNAL

Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function

(2013) Fredrick Van Goor et al.   Journal of Cystic Fibrosis

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Role of Cystic Fibrosis Transmembrane Conductance Regulator in Patients With Chronic Sinopulmonary Disease

(2012) Tanja Gonska et al.   CHEST

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Dynamic Regulation of CFTR Bicarbonate Permeability by [Cl−]i and Its Role in Pancreatic Bicarbonate Secretion

(2010) Hyun Woo Park et al.   GASTROENTEROLOGY

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

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

Non-classic cystic fibrosis associated with D1152HCFTRmutation

(2009) P-R Burgel et al.   CLINICAL GENETICS

Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770

(2009) F. Van Goor et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA