Associated Papers
Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.
Brand F et al.
Acta Neuropathologica, 2026
Beyond Carrier Status: CFTR Heterozygosity as an Overlooked Clinical Risk Factor for Pancreatitis.
Richter LD et al.
Clinical Genetics, 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
Evaluating Georgia's Cystic Fibrosis Newborn Screening Algorithm to Inform Improvement Recommendations.
Truitt B et al.
International Journal of Neonatal Screening, 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
Novel gain-of-function mutants identify a critical region within CFTR membrane-spanning domain 2 controlling cAMP-dependent and ATP-independent channel activation.
Castanier S et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Challenges of Preimplantation Genetic Counselling in the Context of Cystic Fibrosis and Other CFTR-Related Disorders: A Monocentric Experience in a Cohort of 92 Couples.
Sorrentino U et al.
Genes, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 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
Nonsense mutations accelerate lung disease and decrease survival of cystic fibrosis children.
Orenti A et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2023
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.
Makarova M et al.
International Journal of Molecular Sciences, 2023
Refinement of newborn screening for cystic fibrosis with next generation sequencing.
Rock MJ et al.
Pediatric Pulmonology, 2023
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF et al.
American Journal of Human Genetics, 2022
C FTR variants are associated with chronic bronchitis in smokers.
Saferali A et al.
The European Respiratory Journal, 2022
CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor.
Raraigh KS et al.
Jci Insight, 2022
Exon-skipping antisense oligonucleotides for cystic fibrosis therapy.
Kim YJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Outcomes of Cystic Fibrosis Screening-Positive Infants With Inconclusive Diagnosis at School Age.
Gonska T et al.
Pediatrics, 2021
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
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
Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis.
Nappo S et al.
Annals of Human Genetics, 2020
Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders.
Castaldo A et al.
Diagnostics (basel, Switzerland), 2020
In vivo crystals reveal critical features of the interaction between cystic fibrosis transmembrane conductance regulator (CFTR) and the PDZ2 domain of Na+/H+ exchange cofactor NHERF1.
Martin ER et al.
The Journal of Biological Chemistry, 2020
Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records.
Sugunaraj JP et al.
Npj Genomic Medicine, 2019
Clinical expression of cystic fibrosis in a large cohort of Italian siblings.
Terlizzi V et al.
Bmc Pulmonary Medicine, 2018
A case-control study on pregnancy in Italian Cystic Fibrosis women. Data from the Italian Registry.
Giordani B et al.
Respiratory Medicine, 2018
Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.
Sharma N et al.
Plos Genetics, 2018
Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics.
Soltysova A et al.
The Clinical Respiratory Journal, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction.
Sharma N et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2016
Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis.
Pagin A et al.
Plos One, 2016
Facilitating Structure-Function Studies of CFTR Modulator Sites with Efficiencies in Mutagenesis and Functional Screening.
Molinski SV et al.
Journal of Biomolecular Screening, 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
Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.
Křenková P et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2013
Extensive molecular analysis of patients bearing CFTR-related disorders.
Amato F et al.
The Journal of Molecular Diagnostics : Jmd, 2012
Pancreatic phenotype in infants with cystic fibrosis identified by mutation screening.
Cipolli M et al.
Archives of Disease in Childhood, 2007
Highly preferential association of NonF508del CF mutations with the M470 allele.
Ciminelli BM et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2007
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.
Keiles S et al.
Pancreas, 2006
Reduced CFTR function and the pathobiology of idiopathic pancreatitis.
Cohn JA
Journal of Clinical Gastroenterology, 2005
The role of cystic fibrosis gene mutations in determining susceptibility to chronic pancreatitis.
Cohn JA et al.
Gastroenterology Clinics of North America, 2004
Mutations located in exon 24 of the CFTR gene are associated with a mild cystic fibrosis phenotype.
Bienvenu T et al.
Clinical Genetics, 2003
CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients.
Bernardino AL et al.
Jop : Journal of the Pancreas, 2003
Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis.
Audrézet MP et al.
European Journal of Human Genetics : Ejhg, 2002