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25 in total

1. Defects in RNA splicing and the consequence of shortened translational reading frames.

Authors: L E Maquat
Journal: Am J Hum Genet Date: 1996-08 Impact factor: 11.025

2. Restoration of R117H CFTR folding and function in human airway cells through combination treatment with VX-809 and VX-770.

Authors: Martina Gentzsch; Hong Y Ren; Scott A Houck; Nancy L Quinney; Deborah M Cholon; Pattarawut Sopha; Imron G Chaudhry; Jhuma Das; Nikolay V Dokholyan; Scott H Randell; Douglas M Cyr
Journal: Am J Physiol Lung Cell Mol Physiol Date: 2016-07-08 Impact factor: 5.464

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

Authors: Meghan E McGarry; Beate Illek; Ngoc P Ly; Lorna Zlock; Sabrina Olshansky; Courtney Moreno; Walter E Finkbeiner; Dennis W Nielson
Journal: Pediatr Pulmonol Date: 2017-01-09

Review 4. Cystic fibrosis genetics: from molecular understanding to clinical application.

Authors: Garry R Cutting
Journal: Nat Rev Genet Date: 2014-11-18 Impact factor: 53.242

5. Nonsense-mediated decay of human HEXA mRNA.

Authors: K S Rajavel; E F Neufeld
Journal: Mol Cell Biol Date: 2001-08 Impact factor: 4.272

Review 6. Targeted therapy for cystic fibrosis: cystic fibrosis transmembrane conductance regulator mutation-specific pharmacologic strategies.

Authors: Ronald C Rubenstein
Journal: Mol Diagn Ther Date: 2006 Impact factor: 4.074

Review 7. Spectrum of mutations in cystic fibrosis.

Authors: G R Cutting
Journal: J Bioenerg Biomembr Date: 1993-02 Impact factor: 2.945

8. Pharmacological correction of a defect in PPAR-gamma signaling ameliorates disease severity in Cftr-deficient mice.

Authors: Gregory S Harmon; Darren S Dumlao; Damian T Ng; Kim E Barrett; Edward A Dennis; Hui Dong; Christopher K Glass
Journal: Nat Med Date: 2010-02-14 Impact factor: 53.440

9. Assessing the Disease-Liability of Mutations in CFTR.

Authors: Claude Ferec; Garry R Cutting
Journal: Cold Spring Harb Perspect Med Date: 2012-12-01 Impact factor: 6.915

10. In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing delta F508-CFTR.

Authors: R C Rubenstein; M E Egan; P L Zeitlin
Journal: J Clin Invest Date: 1997-11-15 Impact factor: 14.808