Concepedia
Journal of Cystic Fibrosis · 2013 · 336 citations · 19 references
Life SciencesGeneticsMolecular GeneticsPost-translational ModificationMutation AnalysisMutation ScreeningProtein MisfoldingCftr Gene MutationsCftr Protein FunctionCystic Fibrosis GeneticsElexacaftor TherapyIvacaftor TherapyMissense Mutations
19
Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA
John R. Riordan, Johanna M. Rommens, Bat-Sheva Kerem et al. · Science · 1989 · 7.4K citations
Life Sciences, Genetics, Molecular Genetics +12
A CFTR Potentiator in Patients with Cystic Fibrosis and the <i>G551D</i> Mutation
Bonnie W. Ramsey, Jane C. Davies, Noel G. McElvaney et al. · New England Journal of Medicine · 2011 · 2.2K citations · Full text
Medicine, Molecular Biology, Molecular Genetics +8
Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770
Fredrick Van Goor, Sabine Hadidaꝉ, Peter D. J. Grootenhuis et al. · Proceedings of the National Academy of Sciences · 2009 · 1.2K citations · Full text
Medicine, Cell Biology, Pharmacology +17
Demonstration That CFTR Is a Chloride Channel by Alteration of Its Anion Selectivity
Matthew P. Anderson, Richard J. Gregory, Simon Thompson et al. · Science · 1991 · 1.1K citations
Natural Sciences, Cell Biology, Molecular Biology +17
Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809
Fredrick Van Goor, Sabine Hadidaꝉ, Peter D. J. Grootenhuis et al. · Proceedings of the National Academy of Sciences · 2011 · 1.1K citations · Full text
Medicine, Molecular Biology, Pharmacology +13