Associated Papers
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
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Cystic Fibrosis Screen Positive, Inconclusive Diagnosis Genotypes in People with Cystic Fibrosis from the U.S. Patient Registry.
Salinas DB et al.
Annals of the American Thoracic Society, 2023
Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.
Conti J et al.
Children (basel, Switzerland), 2022
C FTR variants are associated with chronic bronchitis in smokers.
Saferali A et al.
The European Respiratory Journal, 2022
Elexacaftor/tezacaftor/ivacaftor for CFTR variants giving rise to diagnostic uncertainty: Personalised medicine or over-medicalisation?
Salvatore D et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2022
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach.
Mikó Á et al.
Human Mutation, 2021
The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.
Erdoğan M et al.
Balkan Medical Journal, 2021
Discovery of CFTR modulators for the treatment of cystic fibrosis.
Lopes-Pacheco M et al.
Expert Opinion on Drug Discovery, 2021
Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.
Bozdogan ST et al.
Genes, 2021
Association of the CFTR gene with asthma and airway mucus hypersecretion.
Crespo-Lessmann A et al.
Plos One, 2021
Linker Domains: Why ABC Transporters 'Live in Fragments no Longer'.
Ford RC et al.
Trends in Biochemical Sciences, 2020
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.
Raraigh KS et al.
American Journal of Human Genetics, 2018
Structural mechanisms of CFTR function and dysfunction.
Hwang TC et al.
The Journal of General Physiology, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Role of CFTR variants explored in developing cystic fibrosis symptoms: Latest research highlights disease manifestations in diverse ethnicities of children.
Unknown Author
American Journal of Medical Genetics. Part A, 2016
Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.
Salinas DB et al.
Plos One, 2016
Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience.
Girardet A et al.
Clinical Genetics, 2015
State-dependent regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gating by a high affinity Fe3+ bridge between the regulatory domain and cytoplasmic loop 3.
Wang G
The Journal of Biological Chemistry, 2010
Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4-year clinical follow-up.
Narzi L et al.
Clinical Genetics, 2007
Molecular evaluation of CFTR sequence variants in male infertility of testicular origin.
Larriba S et al.
International Journal of Andrology, 2005
Genotype-phenotype correlation for pulmonary function in cystic fibrosis.
de Gracia J et al.
Thorax, 2005
Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2005
High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.
des Georges M et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2004
A short segment of the R domain of cystic fibrosis transmembrane conductance regulator contains channel stimulatory and inhibitory activities that are separable by sequence modification.
Xie J et al.
The Journal of Biological Chemistry, 2002
Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: results of a French molecular collaborative study based on 641 prospective cases.
Muller F et al.
American Journal of Medical Genetics, 2002
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Chen JM et al.
Molecular Biology and Evolution, 2001
Stimulatory and Inhibitory Functions of the R Domain on CFTR Chloride Channel.
Ma J
News in Physiological Sciences : an International Journal of Physiology Produced Jointly by the International Union of Physiological Sciences and the American Physiological Society, 2000