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
CFTR complex alleles and phenotypic variability in cystic fibrosis disease.
El-Seedy A et al.
Cellular and Molecular Biology (noisy-le-grand, France), 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
The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy.
Krasnova M et al.
International Journal of Molecular Sciences, 2023
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes.
Baldassarri M et al.
Cells, 2022
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
Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants.
Baldassarri M et al.
Journal of Personalized Medicine, 2021
Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis.
Sanders M et al.
Human Genetics, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Identifying the molecular target sites for CFTR potentiators GLPG1837 and VX-770.
Yeh HI et al.
The Journal of General Physiology, 2019
Cryo-EM Visualization of an Active High Open Probability CFTR Anion Channel.
Fay JF et al.
Biochemistry, 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
Transmembrane helical interactions in the CFTR channel pore.
Das J et al.
Plos Computational Biology, 2017
Three charged amino acids in extracellular loop 1 are involved in maintaining the outer pore architecture of CFTR.
Cui G et al.
The Journal of General Physiology, 2014
Cysteine scanning of CFTR's first transmembrane segment reveals its plausible roles in gating and permeation.
Gao X et al.
Biophysical Journal, 2013
Changes in accessibility of cytoplasmic substances to the pore associated with activation of the cystic fibrosis transmembrane conductance regulator chloride channel.
El Hiani Y et al.
The Journal of Biological Chemistry, 2010
Dual roles of the sixth transmembrane segment of the CFTR chloride channel in gating and permeation.
Bai Y et al.
The Journal of General Physiology, 2010
Cystic fibrosis transmembrane conductance regulator: using differential reactivity toward channel-permeant and channel-impermeant thiol-reactive probes to test a molecular model for the pore.
Alexander C et al.
Biochemistry, 2009
Evidence for direct CFTR inhibition by CFTR(inh)-172 based on Arg347 mutagenesis.
Caci E et al.
The Biochemical Journal, 2008
Mutations at arginine 352 alter the pore architecture of CFTR.
Cui G et al.
The Journal of Membrane Biology, 2008
Conformational changes in a pore-lining helix coupled to cystic fibrosis transmembrane conductance regulator channel gating.
Beck EJ et al.
The Journal of Biological Chemistry, 2008
NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing.
Pros E et al.
Human Mutation, 2006
Insight in eukaryotic ABC transporter function by mutation analysis.
Frelet A et al.
Febs Letters, 2006
DHPLC screening of cystic fibrosis gene mutations.
Ravnik-Glavac M et al.
Human Mutation, 2002
CFTR: covalent and noncovalent modification suggests a role for fixed charges in anion conduction.
Smith SS et al.
The Journal of General Physiology, 2001
Interhelical hydrogen bonds in the CFTR membrane domain.
Therien AG et al.
Nature Structural Biology, 2001
Two mild cystic fibrosis-associated mutations result in severe cystic fibrosis when combined in cis and reveal a residue important for cystic fibrosis transmembrane conductance regulator processing and function.
Clain J et al.
The Journal of Biological Chemistry, 2001
European Epidemiologic Registry of Cystic Fibrosis (ERCF): comparison of major disease manifestations between patients with different classes of mutations.
Koch C et al.
Pediatric Pulmonology, 2001
Cystic fibrosis-associated mutations at arginine 347 alter the pore architecture of CFTR. Evidence for disruption of a salt bridge.
Cotten JF et al.
The Journal of Biological Chemistry, 1999
Structure and function of the CFTR chloride channel.
Sheppard DN et al.
Physiological Reviews, 1999
Locating the anion-selectivity filter of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel.
Cheung M et al.
The Journal of General Physiology, 1997
Disulphonic stilbene block of cystic fibrosis transmembrane conductance regulator Cl- channels expressed in a mammalian cell line and its regulation by a critical pore residue.
Linsdell P et al.
The Journal of Physiology, 1996
Identification of cystic fibrosis transmembrane conductance regulator channel-lining residues in and flanking the M6 membrane-spanning segment.
Cheung M et al.
Biophysical Journal, 1996
Genotypic analysis of respiratory mucous sulfation defects in cystic fibrosis.
Zhang Y et al.
The Journal of Clinical Investigation, 1995
Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene.
Mickle J et al.
Human Reproduction (oxford, England), 1995
Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.
Morral N et al.
American Journal of Human Genetics, 1994
Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure.
Huleyuk N et al.
Tsitologiia I Genetika, 0