Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides

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

Improvement of SMN2 Pre-mRNA Processing Mediated by Exon-Specific U1 Small Nuclear RNA

(2015) Andrea Dal Mas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2015) M. D. Amaral   JOURNAL OF INTERNAL MEDICINE

New pharmacological approaches for cystic fibrosis: Promises, progress, pitfalls

(2015) Scott C. Bell et al.   PHARMACOLOGY & THERAPEUTICS

Protein Traffic Disorders: an Effective High-Throughput Fluorescence Microscopy Pipeline for Drug Discovery

(2015) Hugo M. Botelho et al.   Scientific Reports

New developments in exon skipping and splice modulation therapies for neuromuscular diseases

(2014) Aleksander Touznik et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

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

(2014) Neeraj Sharma et al.   HUMAN MUTATION

Cystic fibrosis: Toward personalized therapies

(2014) Pauline T. Ikpa et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Non-viral vectors for gene-based therapy

(2014) Hao Yin et al.   NATURE REVIEWS GENETICS

Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis

(2013) Laia Masvidal et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Pick one, but be quick: 5' splice sites and the problems of too many choices

(2013) X. Roca et al.   GENES & DEVELOPMENT

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

(2013) Patrick R Sosnay et al.   NATURE GENETICS

Management of comorbidities in older patients with cystic fibrosis

(2013) Barry J Plant et al.   Lancet 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

Splice Modulating Therapies for Human Disease

(2012) Pietro Spitali et al.   CELL

An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects

(2012) Eugenio Fernandez Alanis et al.   HUMAN MOLECULAR GENETICS

Analysis of alternative splicing of cassette exons at single-cell level using two fluorescent proteins

(2012) Nadya G. Gurskaya et al.   NUCLEIC ACIDS RESEARCH

Exon and intron definition in pre-mRNA splicing

(2012) Laura De Conti et al.   Wiley Interdisciplinary Reviews-RNA

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

(2010) David N. Cooper et al.   HUMAN MUTATION

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

Substances that can change alternative splice-site selection: Table 1

(2008) Chiranthani Sumanasekera et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

A high-throughput screening strategy identifies cardiotonic steroids as alternative splicing modulators

(2008) P. Stoilov et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA