Associated Papers
Prevalence, type, and clinical implications of CFTR variants in bronchiectasis.
Gramegna A et al.
Pulmonology, 2026
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 2025
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Next-Generation Sequencing Infertility Panel in Turkey: First Results.
Ikbal Atli E et al.
Balkan Journal of Medical Genetics : Bjmg, 2024
Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.
Mendes C et al.
Molecular Genetics and Metabolism Reports, 2024
Allosteric inhibition of CFTR gating by CFTRinh-172 binding in the pore.
Gao X et al.
Nature Communications, 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
Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort.
De Paolis E et al.
Genes, 2023
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
Diagnostic agreement among experts assessing adults presenting with possible cystic fibrosis: need for improvement and implications for patient care.
Franciosi AN et al.
Erj Open Research, 2022
C FTR variants are associated with chronic bronchitis in smokers.
Saferali A et al.
The European Respiratory Journal, 2022
Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry.
Yiallouros PK et al.
Orphanet Journal of Rare Diseases, 2021
Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?
Mekki C et al.
Genes, 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
The true panel of cystic fibrosis mutations in the Sicilian population.
Chamayou S et al.
Bmc Medical Genetics, 2020
A quantitative super-resolution imaging toolbox for diagnosis of motile ciliopathies.
Liu Z et al.
Science Translational Medicine, 2020
Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul.
Atag E et al.
Pediatric Pulmonology, 2019
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
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Architecture and functional properties of the CFTR channel pore.
Linsdell P
Cellular and Molecular Life Sciences : Cmls, 2017
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.
Oud MM et al.
Cilia, 2016
Timing of CFTR pore opening and structure of its transition state.
Sorum B et al.
Cell, 2015
Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.
Trujillano D et al.
Molecular Genetics & Genomic Medicine, 2015
A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.
Lucarelli M et al.
Molecular Medicine (cambridge, Mass.), 2015
Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis.
Molinario R et al.
Case Reports in Genetics, 2015
Functional architecture of the CFTR chloride channel.
Linsdell P
Molecular Membrane Biology, 2014
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
Tuning of CFTR chloride channel function by location of positive charges within the pore.
El Hiani Y et al.
Biophysical Journal, 2012
Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration?
Hentschel J et al.
European Journal of Pediatrics, 2012
Molecular evaluation of CFTR sequence variants in male infertility of testicular origin.
Larriba S et al.
International Journal of Andrology, 2005
Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility.
Morea A et al.
Molecular Human Reproduction, 2005
Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism.
D'Apice MR et al.
Prenatal Diagnosis, 2004
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.
D'Apice MR et al.
Bmc Medical Genetics, 2004
Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals.
Kanavakis E et al.
Clinical Genetics, 2003
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
Interhelical hydrogen bonds in the CFTR membrane domain.
Therien AG et al.
Nature Structural Biology, 2001
Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis.
Scotet V et al.
Clinical Genetics, 2001