Associated Papers
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 2025
Efficacy of elexacaftor/tezacaftor/ivacaftor in non-cystic fibrosis bronchiectasis patients with a single pathogenic CFTR mutation: a retrospective cohort analysis.
Papadakis L et al.
Erj Open Research, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 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
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
ABC-transporter CFTR folds with high fidelity through a modular, stepwise pathway.
Im J et al.
Cellular and Molecular Life Sciences : Cmls, 2023
Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy.
Feng J et al.
Reproduction (cambridge, England), 2022
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.
Gao D et al.
Nature Communications, 2021
Emerging Therapeutic Approaches for Cystic Fibrosis. From Gene Editing to Personalized Medicine.
Pranke I et al.
Frontiers in Pharmacology, 2019
The relationship between sweat chloride levels and mortality in cystic fibrosis varies by individual genotype.
Espel JC et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2018
Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations.
Ramalho AS et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2016
Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies.
Fanen P et al.
The International Journal of Biochemistry & Cell Biology, 2014
Biosynthesis of cystic fibrosis transmembrane conductance regulator.
Pranke IM et al.
The International Journal of Biochemistry & Cell Biology, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9.
Fuchs-Telem D et al.
Clinical and Experimental Dermatology, 2013
CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.
Sheridan MB et al.
Journal of Medical Genetics, 2011
Cystic fibrosis conductance regulator, tumor necrosis factor, interferon alpha-10, interferon alpha-17, and interferon gamma genotyping as potential risk markers in pulmonary sarcoidosis pathogenesis in Greek patients.
Makrythanasis P et al.
Genetic Testing and Molecular Biomarkers, 2010
Is CFTR 621+3 A>G a cystic fibrosis causing mutation?
Forzan M et al.
Journal of Human Genetics, 2010
Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.
Borowitz D et al.
The Journal of Pediatrics, 2009
Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
Borowitz D et al.
The Journal of Pediatrics, 2009
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
Castellani C et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2008
Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis.
Tzetis M et al.
Clinical Genetics, 2007
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.
Smith PJ et al.
Human Molecular Genetics, 2006
Splicing modulation as a modifier of the CFTR function.
Nissim-Rafinia M et al.
Progress in Molecular and Subcellular Biology, 2006
Pharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy.
Kerem E
Pediatric Pulmonology, 2005
Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).
Panagiotakaki E et al.
American Journal of Medical Genetics. Part A, 2004
Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation.
Nissim-Rafinia M et al.
Embo Reports, 2004
The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles.
Steiner B et al.
Human Mutation, 2004
Quantitative methods for the analysis of CFTR transcripts/splicing variants.
Amaral MD et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2004
Genomic variants in exons and introns: identifying the splicing spoilers.
Pagani F et al.
Nature Reviews. Genetics, 2004
Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits.
Subramony SH et al.
Annals of Neurology, 2003
The phenotypic consequences of CFTR mutations.
Rowntree RK et al.
Annals of Human Genetics, 2003
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.
Pagani F et al.
Human Molecular Genetics, 2003
Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals.
Kanavakis E et al.
Clinical Genetics, 2003
Cystic fibrosis: S158N (605G --> A) is a rare genetic variant found in coupling with deltaF508.
Hicks K et al.
Genetic Testing, 2003
Multiplex sequence variation detection throughout the CFTR gene appropriate for preimplantation genetic diagnosis in populations with heterogeneity of cystic fibrosis mutations.
Vrettou C et al.
Molecular Human Reproduction, 2002
Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.
Hefferon TW et al.
American Journal of Human Genetics, 2002
Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene.
Tzetis M et al.
Human Genetics, 2001
CFTR gene mutations--including three novel nucleotide substitutions--and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease.
Tzetis M et al.
Human Genetics, 2001