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
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
Vanzacaftor-tezacaftor-deutivacaftor versus elexacaftor-tezacaftor-ivacaftor in individuals with cystic fibrosis aged 12 years and older (SKYLINE Trials VX20-121-102 and VX20-121-103): results from two randomised, active-controlled, phase 3 trials.
Keating C et al.
The Lancet. Respiratory Medicine, 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: Understanding Cystic Fibrosis Transmembrane Regulator Mutation Classification and Modulator Therapies.
Anwar S et al.
Advances in Respiratory Medicine, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 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
Cystic fibrosis and primary ciliary dyskinesia: Similarities and differences.
Pereira R et al.
Respiratory Medicine, 2023
Pathogenic Variants Spectrum and Allele Frequency of the CFTR Gene in Asians.
Kim JW
Allergy, Asthma & Immunology Research, 2022
Proteostasis Regulators in Cystic Fibrosis: Current Development and Future Perspectives.
Brusa I et al.
Journal of Medicinal Chemistry, 2022
Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine.
Butnariu LI et al.
Journal of Clinical Medicine, 2021
Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.
Bresnick K et al.
Bmj Open Respiratory Research, 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
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
Targeted deubiquitination rescues distinct trafficking-deficient ion channelopathies.
Kanner SA et al.
Nature Methods, 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
Ivacaftor for the treatment of cystic fibrosis in children under six years of age.
Aoyama BC et al.
Expert Review of Respiratory Medicine, 2020
Cystic Fibrosis: Proteostatic correctors of CFTR trafficking and alternative therapeutic targets.
Hanrahan JW et al.
Expert Opinion on Therapeutic Targets, 2019
Structural mechanisms for defective CFTR gating caused by the Q1412X mutation, a severe Class VI pathogenic mutation in cystic fibrosis.
Yeh JT et al.
The Journal of Physiology, 2019
[Patients with cystic fibrosis become adults : Treatment hopes and disappointments].
Eschenhagen P et al.
Der Internist, 2019
A European regulatory perspective on cystic fibrosis: current treatments, trends in drug development and translational challenges for CFTR modulators.
Ponzano S et al.
European Respiratory Review : an Official Journal of the European Respiratory Society, 2018
Current and future molecular approaches in the diagnosis of cystic fibrosis.
Bergougnoux A et al.
Expert Review of Respiratory Medicine, 2018
Cystic fibrosis: a clinical view.
Castellani C et al.
Cellular and Molecular Life Sciences : Cmls, 2017
Current and future treatment options for cystic fibrosis lung disease: latest evidence and clinical implications.
Edmondson C et al.
Therapeutic Advances in Chronic Disease, 2016
Searching for a cure for cystic fibrosis. A 25-year quest in a nutshell.
Bosch B et al.
European Journal of Pediatrics, 2016
Cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis: current perspectives.
Schmidt BZ et al.
Clinical Pharmacology : Advances and Applications, 2016
Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens.
Yang X et al.
Fertility and Sterility, 2015
Management of endocrine disease: Cystic fibrosis-related diabetes: novel pathogenic insights opening new therapeutic avenues.
Barrio R
European Journal of Endocrinology, 2015
Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
Langfelder-Schwind E et al.
Journal of Genetic Counseling, 2014
Disease-modifying genes and monogenic disorders: experience in cystic fibrosis.
Gallati S
The Application of Clinical Genetics, 2014
Novel therapeutic approaches for cystic fibrosis.
Wilschanski M
Discovery Medicine, 2013
Genetic counselling issues in cystic fibrosis.
Culling B et al.
Paediatric Respiratory Reviews, 2010
Emerging drug treatments for cystic fibrosis.
Zeitlin PL
Expert Opinion on Emerging Drugs, 2003
The phenotypic consequences of CFTR mutations.
Rowntree RK et al.
Annals of Human Genetics, 2003
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland.
Scotet V et al.
Human Mutation, 2003
Localization of sequences within the C-terminal domain of the cystic fibrosis transmembrane conductance regulator which impact maturation and stability.
Gentzsch M et al.
The Journal of Biological Chemistry, 2001
Genotype and phenotype in cystic fibrosis.
Zielenski J
Respiration; International Review of Thoracic Diseases, 2000
C-terminal truncations destabilize the cystic fibrosis transmembrane conductance regulator without impairing its biogenesis. A novel class of mutation.
Haardt M et al.
The Journal of Biological Chemistry, 1999
Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes.
Hughes D et al.
Human Mutation, 1996
Preconception and genetic counselling.
Wong HB
The Journal of the Singapore Paediatric Society, 1987