Associated Papers
Comparison of preclinical drug efficacy in nasal and intestinal patient-derived models of cystic fibrosis.
Latorre RV et al.
European Journal of Pharmacology, 2026
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 2025
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
General Trends in the Calnexin-Dependent Expression and Pharmacological Rescue of Clinical CFTR Variants.
Tedman A et al.
Biorxiv : the Preprint Server for Biology, 2025
Progress of personalized medicine of cystic fibrosis in the times of efficient CFTR modulators.
Tümmler B et al.
Molecular and Cellular Pediatrics, 2025
Beyond Trikafta: new models to assess tissue dependent rescue of N1303K-CFTR.
Pranke I et al.
Frontiers in Pharmacology, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Exploring Turkey's mosaic of novel variants and complex alleles in cystic fibrosis genetics.
Yıldız CA et al.
Pediatric Pulmonology, 2024
Population Characteristics of the Spectrum and Frequencies of CFTR Gene Mutations in Patients with Cystic Fibrosis from the Republic of Bashkortostan (Russia).
Ayupova G et al.
Genes, 2024
CFTR modulators response of S737F and T465N CFTR variants on patient-derived rectal organoids.
Kleinfelder K et al.
Orphanet Journal of Rare Diseases, 2024
Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population.
Meneses DG et al.
Bmc Pediatrics, 2024
Laboratory Tools to Predict CFTR Modulator Therapy Effectiveness and to Monitor Disease Severity in Cystic Fibrosis.
Bacalhau M et al.
Journal of Personalized Medicine, 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
Lung clearance index in children with cystic fibrosis previously diagnosed with CRMS/CFSPID: A monocentric prospective experience.
Terlizzi V et al.
Pediatric Pulmonology, 2023
Variability of the sweat test in children with Cystic Fibrosis previously CRMS/CFSPID: A retrospective monocenter experience.
Terlizzi V et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2023
Real-time observation of functional specialization among phosphorylation sites in CFTR.
Infield DT et al.
The Journal of General Physiology, 2023
Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators.
Terlizzi V et al.
International Journal of Molecular Sciences, 2023
Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.
Conti J et al.
Children (basel, Switzerland), 2022
Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience.
Bianchimani C et al.
International Journal of Neonatal Screening, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
Discovery of CFTR modulators for the treatment of cystic fibrosis.
Lopes-Pacheco M et al.
Expert Opinion on Drug Discovery, 2021
Treatment of Pulmonary Disease of Cystic Fibrosis: A Comprehensive Review.
Girón Moreno RM et al.
Antibiotics (basel, Switzerland), 2021
Cystic fibrosis in Tuscany: evolution of newborn screening strategies over time to the present.
Botti M et al.
Italian Journal of Pediatrics, 2021
Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy.
Taccetti G et al.
Diagnostics (basel, Switzerland), 2020
Should isolated Pseudo-Bartter syndrome be considered a CFTR-related disorder of infancy?
Poli P et al.
Pediatric Pulmonology, 2019
Cystic fibrosis screen positive inconclusive diagnosis (CFSPID): Experience in Tuscany, Italy.
Terlizzi V et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2019
A posttranslational modification code for CFTR maturation is altered in cystic fibrosis.
Pankow S et al.
Science Signaling, 2019
S737F is a new CFTR mutation typical of patients originally from the Tuscany region in Italy.
Terlizzi V et al.
Italian Journal of Pediatrics, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
A new compound heterozygous CFTR mutation in a Chinese family with cystic fibrosis.
Xie Y et al.
The Clinical Respiratory Journal, 2017
Identification and frequencies of cystic fibrosis mutations in central Argentina.
Pepermans X et al.
Clinical Biochemistry, 2016
PGD for cystic fibrosis patients and couples at risk of an additional genetic disorder combined with 24-chromosome aneuploidy testing.
Rechitsky S et al.
Reproductive Biomedicine Online, 2013
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.
Masson E et al.
Plos One, 2013
Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene.
Poulou M et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2012
Atypical cystic fibrosis and CFTR-related diseases.
Paranjape SM et al.
Clinical Reviews in Allergy & Immunology, 2008
Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Audrezet MP et al.
The Journal of Molecular Diagnostics : Jmd, 2008
CFTR regulatory region interacts with NBD1 predominantly via multiple transient helices.
Baker JM et al.
Nature Structural & Molecular Biology, 2007
[The spectrum of mutations in the CFTR gene in patients with cystic fibrosis in Slovakia].
Kádasi L et al.
Bratislavske Lekarske Listy, 1998