Associated Papers
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
Cystic Fibrosis and Male Infertility: From Genetics to Future Perspectives in Assisted Reproductive Technologies.
Kaltsas A
Genes, 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
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
Variability in disease severity among cystic fibrosis patients carrying residual-function variants: data from the European Cystic Fibrosis Society Patient Registry.
Mei-Zahav M et al.
Erj Open Research, 2025
Cystic fibrosis hepatobiliary involvement: an update on imaging in diagnosis and monitoring.
Wood W et al.
Pediatric Radiology, 2024
Cystic Fibrosis: Understanding Cystic Fibrosis Transmembrane Regulator Mutation Classification and Modulator Therapies.
Anwar S et al.
Advances in Respiratory Medicine, 2024
Learning from cystic fibrosis: How can we start to personalise treatment of Children's Interstitial Lung Disease (chILD)?
Bush A
Paediatric Respiratory Reviews, 2024
Exploring the diversity of CFTR gene mutations in cystic fibrosis individuals of South Asia.
Rafique H et al.
The Journal of Asthma : Official Journal of the Association for the Care of Asthma, 2024
Recommended Tool Compounds for Modifying the Cystic Fibrosis Transmembrane Conductance Regulator Channel Variants.
Han X et al.
Acs Pharmacology & Translational Science, 2024
Diagnosing Cystic Fibrosis in the 21st Century-A Complex and Challenging Task.
Anton-Păduraru DT et al.
Diagnostics (basel, Switzerland), 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
Understanding CFTR Functionality: A Comprehensive Review of Tests and Modulator Therapy in Cystic Fibrosis.
Thakur S et al.
Cell Biochemistry and Biophysics, 2024
CFTR Modulators: From Mechanism to Targeted Therapeutics.
Yeh HI et al.
Handbook of Experimental Pharmacology, 2024
Current landscape of cystic fibrosis gene therapy.
Plasschaert LW et al.
Frontiers in Pharmacology, 2024
Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.
Kondratyeva E et al.
Frontiers in Genetics, 2024
Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X.
Mention K et al.
Human Molecular Genetics, 2023
Identification of α-Tocopherol succinate as an RFFL-substrate interaction inhibitor inducing peripheral CFTR stabilization and apoptosis.
Taniguchi S et al.
Biochemical Pharmacology, 2023
CFTR Modulators: Current Status and Evolving Knowledge.
Regard L et al.
Seminars in Respiratory and Critical Care Medicine, 2023
Cystic fibrosis and primary ciliary dyskinesia: Similarities and differences.
Pereira R et al.
Respiratory Medicine, 2023
Cystic Fibrosis Bone Disease: The Interplay between CFTR Dysfunction and Chronic Inflammation.
Fonseca Ó et al.
Biomolecules, 2023
Antisense Oligonucleotide Therapeutics for Cystic Fibrosis: Recent Developments and Perspectives.
Kim YJ et al.
Molecules and Cells, 2023
The burden of cystic fibrosis in North Africa.
El Makhzen N et al.
Frontiers in Genetics, 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
Pathogenic Variants Spectrum and Allele Frequency of the CFTR Gene in Asians.
Kim JW
Allergy, Asthma & Immunology Research, 2022
One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies.
Ensinck MM et al.
Cells, 2022
Pharmacological Responses of the G542X-CFTR to CFTR Modulators.
Fang X et al.
Frontiers in Molecular Biosciences, 2022
Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine.
Butnariu LI et al.
Journal of Clinical Medicine, 2021
CFTR gene mutation spectrum among 735 Iranian patients with cystic fibrosis: A comprehensive systematic review.
Alibakhshi R et al.
Pediatric Pulmonology, 2021
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
Cystic fibrosis transmembrane conductance regulator modulators for cystic fibrosis: a new dawn?
Edmondson C et al.
Archives of Disease in Childhood, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
The Intestinal Microbiome and Cystic Fibrosis Transmembrane Conductance Regulator Modulators: Emerging Themes in the Management of Gastrointestinal Manifestations of Cystic Fibrosis.
Karb DB et al.
Current Gastroenterology Reports, 2021
Cystic fibrosis: current concepts.
López-Valdez JA et al.
Boletin Medico Del Hospital Infantil De Mexico, 2021
Cystic fibrosis: Physiopathology and the latest pharmacological treatments.
Fonseca C et al.
Pharmacological Research, 2020
Targeted deubiquitination rescues distinct trafficking-deficient ion channelopathies.
Kanner SA et al.
Nature Methods, 2020
Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A>G.
Silva IAL et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020
Mutations of the cystic fibrosis transmembrane conductance regulator gene in males with congenital bilateral absence of the vas deferens: Reproductive implications and genetic counseling (Review).
Cui X et al.
Molecular Medicine Reports, 2020
Cystic fibrosis - Ten promising therapeutic approaches in the current era of care.
Somayaji R et al.
Expert Opinion on Investigational Drugs, 2020
Functional rescue of c.3846G>A (W1282X) in patient-derived nasal cultures achieved by inhibition of nonsense mediated decay and protein modulators with complementary mechanisms of action.
Laselva O et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2020
Allele-Specific Prevention of Nonsense-Mediated Decay in Cystic Fibrosis Using Homology-Independent Genome Editing.
Erwood S et al.
Molecular Therapy. Methods & Clinical Development, 2020