Associated Papers
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 2025
41330381 (PubMed )
Supplement: mmc3.xlsx › Sheet1
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39677473 (PubMed )
Supplement: media-1.xlsx › ST3
Stability Prediction for Mutations in the Cytosolic Domains of Cystic Fibrosis Transmembrane Conductance Regulator.
Bahia MS et al.
Journal of Chemical Information and Modeling, 2021
Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.
Ivey G et al.
Plos One, 2020
A novel triple combination of pharmacological chaperones improves F508del-CFTR correction.
Carlile GW et al.
Scientific Reports, 2018
Structural stability of purified human CFTR is systematically improved by mutations in nucleotide binding domain 1.
Yang Z et al.
Biochimica Et Biophysica Acta. Biomembranes, 2018
Stabilization of a nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator yields insight into disease-causing mutations.
Vernon RM et al.
The Journal of Biological Chemistry, 2017
Direct Binding of the Corrector VX-809 to Human CFTR NBD1: Evidence of an Allosteric Coupling between the Binding Site and the NBD1:CL4 Interface.
Hudson RP et al.
Molecular Pharmacology, 2017
Spectrum of CFTR mutations on Réunion Island: impact on neonatal screening.
Bienvenu T et al.
Human Biology, 2005
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2005
Molecular analysis of 23 exons of the CFTR gene in Brazilian patients leads to the finding of rare cystic fibrosis mutations.
Cabello GM et al.
Human Biology, 2005
Detection of more than 91% cystic fibrosis mutations in a sample of the population from Reunion Island and identification of two novel mutations (A309G, S1255L) and one novel polymorphism (L49L)
Cartault F et al.
Clinical Genetics, 1998
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