Associated Papers
Rethinking CFTR variant responsiveness: Differential responses to vanzacaftor and elexacaftor.
Rodriguez Mier N et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025
Rectal organoid morphology analysis (ROMA) as a novel physiological assay for diagnostic classification in cystic fibrosis.
Cuyx S et al.
Thorax, 2024
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
Cystic fibrosis in South Africa: spectrum of disease and determinants of outcome.
Zampoli M et al.
Erj Open Research, 2021
Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis.
Guan WJ et al.
Journal of Thoracic Disease, 2018
What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
De Wachter E et al.
Orphanet Journal of Rare Diseases, 2017
Newborn screening for cystic fibrosis in Alberta: Two years of experience.
Lilley M et al.
Paediatrics & Child Health, 2010
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Dorfman R et al.
Clinical Genetics, 2010
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
Bobadilla JL et al.
Human Mutation, 2002
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
P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.
Gilfillan A et al.
Journal of Medical Genetics, 1998
Frontiers in research on cystic fibrosis: understanding its molecular and chemical basis and relationship to the pathogenesis of the disease.
Ko YH et al.
Journal of Bioenergetics and Biomembranes, 1997
Modeling of nucleotide binding domains of ABC transporter proteins based on a F1-ATPase/recA topology: structural model of the nucleotide binding domains of the cystic fibrosis transmembrane conductance regulator (CFTR).
Bianchet MA et al.
Journal of Bioenergetics and Biomembranes, 1997
Analysis of 40 known cystic fibrosis mutations in South African patients.
Goldman A et al.
Clinical Genetics, 1994
Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.
Ravnik-Glavac M et al.
Human Molecular Genetics, 1994
CFTR haplotype backgrounds on normal and mutant CFTR genes.
Cuppens H et al.
Human Molecular Genetics, 1994
Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations.
Dörk T et al.
Human Genetics, 1994
Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene.
Cuppens H et al.
Genomics, 1993
Effects of the delta F508 mutation on the structure, function, and folding of the first nucleotide-binding domain of CFTR.
Thomas PJ et al.
Journal of Bioenergetics and Biomembranes, 1993
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.
Chu CS et al.
Nature Genetics, 1993
Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France.
Claustres M et al.
Human Genetics, 1992
Regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gene transcription and alternative RNA splicing in a model of developing intestinal epithelium.
Montrose-Rafizadeh C et al.
The Journal of Biological Chemistry, 1992
Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.
Chu CS et al.
The Journal of Clinical Investigation, 1992
Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene.
Tucker SJ et al.
Human Molecular Genetics, 1992
Single-strand conformation polymorphism (SSCP) analysis of exon 11 of the CFTR gene reliably detects more than one third of non-delta F508 mutations in German cystic fibrosis patients.
Plieth J et al.
Human Genetics, 1992
Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.
Tsui LC
Human Mutation, 1992
A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator.
Kälin N et al.
Human Mutation, 1992
Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes.
Cremonesi L et al.
Human Mutation, 1992
Structure-function analysis of the histidine permease and comparison with cystic fibrosis mutations.
Shyamala V et al.
The Journal of Biological Chemistry, 1991
Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2.
Gregory RJ et al.
Molecular and Cellular Biology, 1991
A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew.
Cuppens H et al.
Journal of Medical Genetics, 1990