Associated Papers
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 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
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 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
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
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
Co-Translational Folding of the First Transmembrane Domain of ABC-Transporter CFTR is Supported by Assembly with the First Cytosolic Domain.
Kleizen B et al.
Journal of Molecular Biology, 2021
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
Corrector VX-809 promotes interactions between cytoplasmic loop one and the first nucleotide-binding domain of CFTR.
Loo TW et al.
Biochemical Pharmacology, 2017
Attenuation of Phosphorylation-dependent Activation of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) by Disease-causing Mutations at the Transmission Interface.
Chin S et al.
The Journal of Biological Chemistry, 2017
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
Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers.
Sharma H et al.
Molecular Human Reproduction, 2014
Delayed diagnosis of females with respiratory presentation of cystic fibrosis did not segregate with poorer clinical outcome.
McCormick J et al.
Journal of Clinical Epidemiology, 2006
Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.
Pompei F et al.
European Journal of Human Genetics : Ejhg, 2006
A large-scale study of the random variability of a coding sequence: a study on the CFTR gene.
Modiano G et al.
European Journal of Human Genetics : Ejhg, 2005
Different CFTR mutational spectrum in alcoholic and idiopathic chronic pancreatitis?
Casals T et al.
Pancreas, 2004
Atypical sinusitis in adults must lead to looking for cystic fibrosis and primary ciliary dyskinesia.
Coste A et al.
The Laryngoscope, 2004
CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients.
Bernardino AL et al.
Jop : Journal of the Pancreas, 2003
Human epithelial cystic fibrosis transmembrane conductance regulator without exon 5 maintains partial chloride channel function in intracellular membranes.
Xie J et al.
Biophysical Journal, 1996