Associated Papers
Genotype-Phenotype Correlation in Children With Cystic Fibrosis From India: A Multicentric Study.
Jat KR et al.
Clinical Genetics, 2026
Clinical, functional and therapeutic evaluation of CFTR variant I507del.
Sharma N et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2026
Analysis of the Genome Aggregation Database (gnomAD) reveals a global burden of cystic fibrosis and the need for improved diagnosis and care.
Bar L et al.
Ebiomedicine, 2026
Using the Reactome Graph Database to generate pathway fingerprints for cancer-related genes, and using the fingerprints to gain insights into cancer, comorbidity, and cancer gene networks.
Iengar P et al.
Computational Biology and Chemistry, 2026
Comparison of preclinical drug efficacy in nasal and intestinal patient-derived models of cystic fibrosis.
Latorre RV et al.
European Journal of Pharmacology, 2026
Elexacaftor/Tezacaftor/Ivacaftor for Cystic Fibrosis and Rare CFTR Variants: In Vitro Translation to a Phase 3, Double-Blind, Randomized, Placebo-controlled Trial and Real-World Study.
Castellani C et al.
American Journal of Respiratory and Critical Care Medicine, 2026
Profile of cystic fibrosis transmembrane conductance regulator (CFTR) gene variants across India and their variability in different geographic regions.
Chowdhury MR et al.
Gene, 2026
The European Medicines Agency's review of elexacaftor/tezacaftor/ivacaftor: extending its use to all people with cystic fibrosis aged 2 years and older who do not have two class I CFTR variants.
Drai C et al.
The European Respiratory Journal, 2026
Strategies for the identification of people with cystic fibrosis responsive to CFTR modulator triple combinations.
Burgel PR
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2026
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 2025
CFTR Modulator Response in Nasal Organoids Derived from People with Cystic Fibrosis.
Lo Cicero S et al.
Cells, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 2025
Beyond Carrier Status: CFTR Heterozygosity as an Overlooked Clinical Risk Factor for Pancreatitis.
Richter LD et al.
Clinical Genetics, 2025
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
Gene Editing for Cystic Fibrosis: Advances and Prospects of CRISPR-Cas9 Therapy.
Khurram I et al.
Cell Biology International, 2025
Successful Desensitisation With Cystic Fibrosis Transmembrane Conductance Regulator Modulatory Drugs in Delayed Cutaneous Hypersensitivity Reactions.
Kazancioglu A et al.
Journal of Paediatrics and Child Health, 2025
Sweat chloride and lung function responses to elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis with two versus one responsive CFTR variants: an analysis of two real-world observational studies.
Burgel PR et al.
The Lancet. Respiratory Medicine, 2025
Organoids in Genetic Disorders: from Disease Modeling to Translational Applications.
Zhu Y et al.
Stem Cell Reviews and Reports, 2025
Global prevalence of CFTR variants with respect to their responsiveness to elexacaftor-tezacaftor-ivacaftor.
Burgel PR et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025
When 25% Feels Like 100%: Confronting Recurrent Cystic Fibrosis Risk Across Consecutive Pregnancies.
Dasgupta S et al.
Cureus, 2025
Real-Life in Cystic Fibrosis Pediatric Patients Treated With Kaftrio: A Descriptive Observational Study.
García Díaz FJ et al.
Clinical Pediatrics, 2025
The A209= Synonymous CFTR Variant Conceals Deep Intronic Variant: Disclosing its Phenotypic Spectrum.
Martinez Bugallo F et al.
Archivos De Bronconeumologia, 2025
Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two CFTR Class I variants: real-world data from the French compassionate programme.
Burgel PR et al.
Eclinicalmedicine, 2025
Genetically engineered approaches to the treatment of cystic fibrosis.
Safrygina AA et al.
Biophysical Reviews, 2025
CFTR Variant Frequencies and Newborn Screening Panel Performance in the Diverse CF Population Receiving Care in the State of Georgia.
Barr E et al.
International Journal of Neonatal Screening, 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
Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.
Lu Y et al.
Asian Journal of Andrology, 2025
The Spectrum and Carrier Frequencies of Common Pathogenic Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Men from the General Population: The Role of Ethnicity.
Osadchuk L et al.
International Journal of Molecular Sciences, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
Evaluation of the response to elexacaftor-tezacaftor-ivacaftor of the rare CFTR variants L383S, I507del, L1065P and R1066H in intestinal organoid-derived epithelial monolayers.
Conti J et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025
A retrospective cohort study of children diagnosed with Cystic Fibrosis after implementation of a newborn screening program in Turkey.
Kekeç H et al.
Respiratory Medicine, 2025
First real-world study of fetal therapy with CFTR modulators in cystic fibrosis: Report from the MODUL-CF study.
Bonnel AS et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025
Cystic fibrosis therapy: from symptoms to the cause of the disease.
Kireeva TN et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2025
Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer.
Prizment A et al.
Human Molecular Genetics, 2025
Genetic Variants and Clinical Characteristics in the Diagnosis of Children Aged Under 18 Years With Cystic Fibrosis in a Brazilian State.
Arpini LDSB et al.
Pediatric Pulmonology, 2025
Discovery and Development of CFTR Modulators for the Treatment of Cystic Fibrosis.
Wang X et al.
Journal of Medicinal Chemistry, 2025
Unraveling the Mechanism of Action, Binding Sites, and Therapeutic Advances of CFTR Modulators: A Narrative Review.
Baroni D
Current Issues in Molecular Biology, 2025
Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study.
Markulić J et al.
Bmj Open, 2025
A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.
Méndez-Vidal C et al.
Journal of Translational Medicine, 2025
Rescue of Mutant CFTR Channel Activity by Investigational Co-Potentiator Therapy.
Bacalhau M et al.
Biomedicines, 2025