Novel personalized therapies for cystic fibrosis: treating the basic defect in all patients

Cystic Fibrosis Transmembrane Conductance Regulator Gene Abnormalities in Patients with Asthma and Recurrent Neutrophilic Bronchitis

(2016) Jodi Goodwin et al.   Canadian Respiratory Journal

The Role ofCFTRMutations in Asthma

(2016) Andrew J Sandford   Canadian Respiratory Journal

Cigarette smoke and calcium conspire to impair CFTR function in airway epithelia

(2014) Andrew P Braun   Channels

Cigarette Smoke-induced Ca2+Release Leads to Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Dysfunction

(2014) Julia E. Rasmussen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

European Cystic Fibrosis Society Standards of Care: Quality Management in cystic fibrosis

(2014) Martin Stern et al.   Journal of Cystic Fibrosis

CFTR functional measurements in human models for diagnosis, prognosis and personalized therapy

(2014) Jeffrey M. Beekman et al.   Journal of Cystic Fibrosis

Impact of heterozygote CFTR Mutations in COPD patients with Chronic Bronchitis

(2014) S Raju et al.   RESPIRATORY RESEARCH

Acquired defects in CFTR-dependent β-adrenergic sweat secretion in chronic obstructive pulmonary disease

(2014) Clifford A Courville et al.   RESPIRATORY RESEARCH

Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial

(2014) Eitan Kerem et al.   Lancet Respiratory Medicine

Revertants, Low Temperature, and Correctors Reveal the Mechanism of F508del-CFTR Rescue by VX-809 and Suggest Multiple Agents for Full Correction

(2013) Carlos M. Farinha et al.   CHEMISTRY & BIOLOGY

Gender and survival in cystic fibrosis

(2013) Kieran McIntyre   CURRENT OPINION IN PULMONARY MEDICINE

Rescuing Mutant CFTR: A Multi-task Approach to a Better Outcome in Treating Cystic Fibrosis

(2013) Margarida D. Amaral et al.   CURRENT PHARMACEUTICAL DESIGN

Pseudomonas aeruginosa infection in cystic fibrosis lung disease and new perspectives of treatment: a review

(2013) M. C. Gaspar et al.   EUROPEAN JOURNAL OF CLINICAL MICROBIOLOGY & INFECTIOUS DISEASES

Single-patient (n-of-1) trials: a pragmatic clinical decision methodology for patient-centered comparative effectiveness research

(2013) Naihua Duan et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

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

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

(2013) Patrick R Sosnay et al.   NATURE GENETICS

Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

(2013) Richard S. Finkel et al.   PLoS One

A new era in the treatment of cystic fibrosis: correction of the underlying CFTR defect

(2013) Michael P Boyle et al.   Lancet Respiratory Medicine

How the airway smooth muscle in cystic fibrosis reacts in proinflammatory conditions: implications for airway hyper-responsiveness and asthma in cystic fibrosis

(2013) Sarah McCuaig et al.   Lancet Respiratory Medicine

Management of comorbidities in older patients with cystic fibrosis

(2013) Barry J Plant et al.   Lancet Respiratory Medicine

The role of the bacterial microbiome in lung disease

(2013) Robert P Dickson et al.   Expert Review of Respiratory Medicine

HGF Stimulation of Rac1 Signaling Enhances Pharmacological Correction of the Most Prevalent Cystic Fibrosis Mutant F508del-CFTR

(2012) Sónia Moniz et al.   ACS Chemical Biology

Pharmacologically Targeting the Primary Defect and Downstream Pathology in Duchenne Muscular Dystrophy

(2012) Rebecca J. Fairclough et al.   CURRENT GENE THERAPY

Mechanisms of Protein Misfolding in Conformational Lung Diseases

(2012) N. G. McElvaney et al.   CURRENT MOLECULAR MEDICINE

CFTR biomarkers: time for promotion to surrogate end-point

(2012) K. De Boeck et al.   EUROPEAN RESPIRATORY JOURNAL

Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein

(2012) Lihua He et al.   FASEB JOURNAL

Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene

(2012) Myrto Poulou et al.   Journal of Cystic Fibrosis

The Challenge of Using Gene- or Cell-Based Therapies to Treat Lung Disease

(2012) Ronald G Crystal   MOLECULAR THERAPY

Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis

(2012) Lei Sun et al.   NATURE GENETICS

Cystic fibrosis: a mucosal immunodeficiency syndrome

(2012) Taylor Sitarik Cohen et al.   NATURE MEDICINE

Society for Pediatric Research Presidential Address 2011: improving child health outcomes—from 65 roses to high reliability

(2012) Maria T. Britto   PEDIATRIC RESEARCH

Measurements of CFTR-Mediated Cl− Secretion in Human Rectal Biopsies Constitute a Robust Biomarker for Cystic Fibrosis Diagnosis and Prognosis

(2012) Marisa Sousa et al.   PLoS One

Cancer syndromes and therapy by stop-codon readthrough

(2012) Renata Bordeira-Carriço et al.   TRENDS IN MOLECULAR MEDICINE

Managing Cystic Fibrosis

(2011) Malena Cohen-Cymberknoh et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Targeting CFTR: How to Treat Cystic Fibrosis by CFTR-Repairing Therapies

(2011) Margarida D. Amaral   CURRENT DRUG TARGETS

An overview of international literature from cystic fibrosis registries. Part 3. Disease incidence, genotype/phenotype correlation, microbiology, pregnancy, clinical complications, lung transplantation, and miscellanea

(2011) Donatello Salvatore et al.   Journal of Cystic Fibrosis

New clinical diagnostic procedures for cystic fibrosis in Europe

(2011) K. De Boeck et al.   Journal of Cystic Fibrosis

Recommendations for the classification of diseases as CFTR-related disorders

(2011) C. Bombieri et al.   Journal of Cystic Fibrosis

Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2

(2011) Fred A Wright et al.   NATURE GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

A CFTR Potentiator in Patients with Cystic Fibrosis and theG551DMutation

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

Anoctamins

(2011) Karl Kunzelmann et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

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

Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for theF508del-CFTRmutation

(2011) J P Clancy et al.   THORAX

Therapeutics Development for Cystic Fibrosis: A Successful Model for a Multisystem Genetic Disease

(2010) Melissa A. Ashlock et al.   Annual Review of Medicine

Genistein: a natural isoflavone with a potential for treatment of genetic diseases

(2010) Grzegorz Węgrzyn et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Clinical assessment incorporating a personal genome

(2010) Euan A Ashley et al.   LANCET

Cystic Fibrosis Foundation: Achieving the Mission

(2010) Bruce C Marshall et al.   Respiratory Care

Deletion of CFTR Translation Start Site Reveals Functional Isoforms of the Protein in CF Patients

(2009) Anabela S. Ramalho et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Cystic fibrosis

(2009) Brian P O'Sullivan et al.   LANCET

Human genetics: One gene, twenty years

(2009) Helen Pearson   NATURE

Chloride channels as drug targets

(2009) Alan S. Verkman et al.   NATURE REVIEWS DRUG DISCOVERY

The Promise of a Cure: 20 Years and Counting

(2009) J. Couzin-Frankel   SCIENCE

CFTR Function and Prospects for Therapy

(2008) John R. Riordan   Annual Review of Biochemistry

A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis

(2008) S.J. Mayell et al.   Journal of Cystic Fibrosis

Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report

(2008) Philip M. Farrell et al.   JOURNAL OF PEDIATRICS

Enhanced Lung Gene Expression After Aerosol Delivery of Concentrated pDNA/PEI Complexes

(2008) Lee A Davies et al.   MOLECULAR THERAPY