Associated Papers
In silico, in vitro and ex vivo characterization of cystic fibrosis transmembrane conductance regulator pathogenic variants localized in the fourth intracellular loop and their rescue by modulators.
Pesce E et al.
British Journal of Pharmacology, 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
The Impact on Genetic Testing of Mutational Patterns of CFTR Gene in Different Clinical Macrocategories of Cystic Fibrosis.
Lucarelli M et al.
The Journal of Molecular Diagnostics : Jmd, 2016
A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.
Lucarelli M et al.
Molecular Medicine (cambridge, Mass.), 2015
CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.
Ziętkiewicz E et al.
Plos One, 2014
Cystic fibrosis transmembrane conductance regulator (CFTR) allelic variants relate to shifts in faecal microbiota of cystic fibrosis patients.
Schippa S et al.
Plos One, 2013
Novel de novo large deletion in cystic fibrosis transmembrane conductance regulator gene results in a severe cystic fibrosis phenotype.
Norek A et al.
The Journal of Pediatrics, 2011
Maternal origin of a de novo mutation of the connexin 26 gene resulting in recessive nonsyndromic deafness.
Shalev SA et al.
American Journal of Medical Genetics. Part A, 2004
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
Casals T et al.
Human Mutation, 1998
High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes.
Casals T et al.
Human Genetics, 1997
Effect of cystic fibrosis-associated mutations in the fourth intracellular loop of cystic fibrosis transmembrane conductance regulator.
Cotten JF et al.
The Journal of Biological Chemistry, 1996
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