Cas9/gRNA targeted excision of cystic fibrosis-causing deep-intronic splicing mutations restores normal splicing of CFTR mRNA

Therapeutic benefit observed with the CFTR potentiator, ivacaftor, in a CF patient homozygous for the W1282X CFTR nonsense mutation

(2017) Venkateshwar Mutyam et al.   Journal of Cystic Fibrosis

Molecular remission of infant B-ALL after infusion of universal TALEN gene-edited CAR T cells

(2017) Waseem Qasim et al.   Science Translational Medicine

Lentivirus pre-packed with Cas9 protein for safer gene editing

(2016) J G Choi et al.   GENE THERAPY

Impact of gene editing on the study of cystic fibrosis

(2016) Patrick T. Harrison et al.   HUMAN GENETICS

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

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

In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa

(2016) Benjamin Bakondi et al.   MOLECULAR THERAPY

A multifunctional AAV–CRISPR–Cas9 and its host response

(2016) Wei Leong Chew et al.   NATURE METHODS

Genetic medicines for CF: Hype versus reality

(2016) Eric W.F.W. Alton et al.   PEDIATRIC PULMONOLOGY

Preparation for a first-in-man lentivirus trial in patients with cystic fibrosis

(2016) Eric W F W Alton et al.   THORAX

Analysis of gene repair tracts from Cas9/gRNA double-stranded breaks in the human CFTR gene

(2016) Jennifer A. Hollywood et al.   Scientific Reports

Targeted Integration of a Super-Exon into the CFTR Locus Leads to Functional Correction of a Cystic Fibrosis Cell Line Model

(2016) Christien Bednarski et al.   PLoS One

Lumacaftor–Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR

(2015) Claire E. Wainwright et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nanoparticles that deliver triplex-forming peptide nucleic acid molecules correct F508del CFTR in airway epithelium

(2015) Nicole Ali McNeer et al.   Nature Communications

Repeated nebulisation of non-viral CFTR gene therapy in patients with cystic fibrosis: a randomised, double-blind, placebo-controlled, phase 2b trial

(2015) Eric W F W Alton et al.   Lancet Respiratory Medicine

Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: a double-blind, randomised controlled trial

(2015) Richard B Moss et al.   Lancet Respiratory Medicine

Gene disruption by cell-penetrating peptide-mediated delivery of Cas9 protein and guide RNA

(2014) S. Ramakrishna et al.   GENOME RESEARCH

Highly efficient RNA-guided genome editing in human cells via delivery of purified Cas9 ribonucleoproteins

(2014) S. Kim et al.   GENOME RESEARCH

Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions

(2014) Neeraj Sharma et al.   HUMAN MUTATION

Cystic fibrosis genetics: from molecular understanding to clinical application

(2014) Garry R. Cutting   NATURE REVIEWS GENETICS

Gene Editing of CCR5 in Autologous CD4 T Cells of Persons Infected with HIV

(2014) Pablo Tebas et al.   NEW ENGLAND JOURNAL OF MEDICINE

Fine Characterization of the Recurrent c.1584+18672A>G Deep-Intronic Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator Gene

(2013) Lucy Costantino et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

Efficient generation of large-scale genome-modified mice using gRNA and CAS9 endonuclease

(2013) Wataru Fujii et al.   NUCLEIC ACIDS RESEARCH

CFTR2: How will it help care?

(2013) Carlo Castellani   Paediatric Respiratory Reviews

Ivacaftor potentiation of multiple CFTR channels with gating mutations

(2012) Haihui Yu et al.   Journal of Cystic Fibrosis

A CFTR Potentiator in Patients with Cystic Fibrosis and theG551DMutation

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

A High Proportion of DNA Variants of BRCA1 and BRCA2 Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients

(2010) D. J. Sanz et al.   CLINICAL CANCER RESEARCH

CFTR Delivery to 25% of Surface Epithelial Cells Restores Normal Rates of Mucus Transport to Human Cystic Fibrosis Airway Epithelium

(2009) Liqun Zhang et al.   PLOS BIOLOGY