Associated Papers
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 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: Understanding Cystic Fibrosis Transmembrane Regulator Mutation Classification and Modulator Therapies.
Anwar S et al.
Advances in Respiratory Medicine, 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
Refinement of newborn screening for cystic fibrosis with next generation sequencing.
Rock MJ et al.
Pediatric Pulmonology, 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
Current and Future Therapeutic Approaches of Exocrine Pancreatic Insufficiency in Children with Cystic Fibrosis in the Era of Personalized Medicine.
Ritivoiu ME et al.
Pharmaceutics, 2023
Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.
Conti J et al.
Children (basel, Switzerland), 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
The Exocrine Pancreas in Cystic Fibrosis in the Era of CFTR Modulation: A Mini Review.
McKay IR et al.
Frontiers in Pediatrics, 2022
The determinants of survival among adults with cystic fibrosis-a cohort study.
Durda-Masny M et al.
Journal of Physiological Anthropology, 2021
Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.
Liu J et al.
Human Mutation, 2021
Discovery of CFTR modulators for the treatment of cystic fibrosis.
Lopes-Pacheco M et al.
Expert Opinion on Drug Discovery, 2021
Intestinal current measurement and nasal potential difference to make a diagnosis of cases with inconclusive CFTR genetics and sweat test.
Minso R et al.
Bmj Open Respiratory Research, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Cystic Fibrosis: A Novel Pharmacologic Approach to Cystic Fibrosis Transmembrane Regulator Modulation Therapy.
Virant-Young D et al.
The Journal of the American Osteopathic Association, 2015
Impact of heterozygote CFTR mutations in COPD patients with chronic bronchitis.
Raju SV et al.
Respiratory Research, 2014
Cigarette smoke induces systemic defects in cystic fibrosis transmembrane conductance regulator function.
Raju SV et al.
American Journal of Respiratory and Critical Care Medicine, 2013
Cystic fibrosis: insight into CFTR pathophysiology and pharmacotherapy.
Lubamba B et al.
Clinical Biochemistry, 2012
Membrane-integration characteristics of two ABC transporters, CFTR and P-glycoprotein.
Enquist K et al.
Journal of Molecular Biology, 2009
Diversity of the basic defect of homozygous CFTR mutation genotypes in humans.
Stanke F et al.
Journal of Medical Genetics, 2008
Cystic fibrosis transmembrane regulator protein mutations: 'class' opportunity for novel drug innovation.
MacDonald KD et al.
Paediatric Drugs, 2007
Pharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy.
Kerem E
Pediatric Pulmonology, 2005
Voltage-sensitive gating induced by a mutation in the fifth transmembrane domain of CFTR.
Zhang ZR et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2002
Interhelical hydrogen bonds in the CFTR membrane domain.
Therien AG et al.
Nature Structural Biology, 2001
Relationship between anion binding and anion permeability revealed by mutagenesis within the cystic fibrosis transmembrane conductance regulator chloride channel pore.
Linsdell P
The Journal of Physiology, 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
Pharmacologic restoration of delta F508 CFTR-mediated chloride current.
Zeitlin PL
Kidney International, 2000
Genetic concerns for the subfertile male in the era of ICSI.
Kim ED et al.
Prenatal Diagnosis, 1998
Cystic fibrosis transmembrane conductance regulator (CFTR) anion binding as a probe of the pore.
Mansoura MK et al.
Biophysical Journal, 1998
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
Nasr SZ et al.
Human Mutation, 1996
Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency.
Golla A et al.
Human Mutation, 1994
A robotics-assisted procedure for large scale cystic fibrosis mutation analysis.
DeMarchi JM et al.
Human Mutation, 1994
Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.
Tsui LC
Human Mutation, 1992
Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutation.
Buyse IM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0