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
Proteostasis landscapes of cystic fibrosis variants reveal drug response vulnerability.
McDonald EF et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Proteostasis Landscapes of Cystic Fibrosis Variants Reveals Drug Response Vulnerability.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2025
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
37873426 (PubMed )
Supplement: media-4.xlsx › Sheet1
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
38271453 (PubMed )
Supplement: pone.0297560.s010.xlsx › Supp_Table_3
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
Newborn cystic fibrosis screening in southeastern Mexico: Birth prevalence and novel CFTR gene variants.
Ibarra-González I et al.
Journal of Medical Screening, 2018
Correction of both NBD1 energetics and domain interface is required to restore ΔF508 CFTR folding and function.
Rabeh WM et al.
Cell, 2012
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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