Associated Papers
Novel insight into CFTR gene's single nucleotide variants classification via in-silico analysis of a conserved site.
Rafique H et al.
Journal of Computer-aided Molecular Design, 2025
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
36834620 (PubMed )
Supplement: ijms-24-03211-s001.zip › ijms-2071953-supplementary.pdf
Thermal unfolding simulations of NBD1 domain variants reveal structural motifs associated with the impaired folding of F508del-CFTR.
Estácio SG et al.
Molecular Biosystems, 2016
ATP and AMP mutually influence their interaction with the ATP-binding cassette (ABC) adenylate kinase cystic fibrosis transmembrane conductance regulator (CFTR) at separate binding sites.
Randak CO et al.
The Journal of Biological Chemistry, 2013
Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis.
Masica DL et al.
Human Mutation, 2012
Functional Rescue of F508del-CFTR Using Small Molecule Correctors.
Molinski S et al.
Frontiers in Pharmacology, 2012
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Dorfman R et al.
Clinical Genetics, 2010
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Chen JM et al.
Molecular Biology and Evolution, 2001
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Claustres M et al.
Human Mutation, 2000
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