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
A Proteomic Survey of the Cystic Fibrosis Transmembrane Conductance Regulator Surfaceome.
Iazzi M et al.
International Journal of Molecular 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
Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.
Tavano F et al.
Molecular Medicine (cambridge, Mass.), 2023
Fibrosis quística: patogenia bacteriana y moduladores del CFTR (regulador de conductancia transmembranal de la fibrosis quística).
Vargas-Roldán SY et al.
Boletin Medico Del Hospital Infantil De Mexico, 2022
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
The bidirectional relationship between CFTR and lipids.
Cottrill KA et al.
Communications Biology, 2020
Emerging Cystic Fibrosis Transmembrane Conductance Regulator Modulators as New Drugs for Cystic Fibrosis: A Portrait of in Vitro Pharmacology and Clinical Translation.
Ghelani DP et al.
Acs Pharmacology & Translational Science, 2020
Beyond cystic fibrosis transmembrane conductance regulator therapy: a perspective on gene therapy and small molecule treatment for cystic fibrosis.
Schneider-Futschik EK
Gene Therapy, 2019
Cystic Fibrosis: Proteostatic correctors of CFTR trafficking and alternative therapeutic targets.
Hanrahan JW et al.
Expert Opinion on Therapeutic Targets, 2019
Transcytosis maintains CFTR apical polarity in the face of constitutive and mutation-induced basolateral missorting.
Bidaud-Meynard A et al.
Journal of Cell Science, 2019
Progression of Cystic Fibrosis Lung Disease from Childhood to Adulthood: Neutrophils, Neutrophil Extracellular Trap (NET) Formation, and NET Degradation.
Khan MA et al.
Genes, 2019
[Patients with cystic fibrosis become adults : Treatment hopes and disappointments].
Eschenhagen P et al.
Der Internist, 2019
Advances in the Diagnosis and Management of Cystic Fibrosis in the Genomic Era.
Wiencek JR et al.
Clinical Chemistry, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Innovative Therapeutic Strategies for Cystic Fibrosis: Moving Forward to CRISPR Technique.
Marangi M et al.
Frontiers in Pharmacology, 2018
Peripheral Protein Quality Control as a Novel Drug Target for CFTR Stabilizer.
Fukuda R et al.
Frontiers in Pharmacology, 2018
Human Primary Epithelial Cell Models: Promising Tools in the Era of Cystic Fibrosis Personalized Medicine.
Awatade NT et al.
Frontiers in Pharmacology, 2018
A new compound heterozygous CFTR mutation in a Chinese family with cystic fibrosis.
Xie Y et al.
The Clinical Respiratory Journal, 2017
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Claustres M et al.
Human Mutation, 2017
New treatments targeting the basic defects in cystic fibrosis.
Fajac I et al.
Presse Medicale (paris, France : 1983), 2017
CFTR Modulator Therapies for Cystic Fibrosis.
Trimble AT et al.
Pediatric Allergy, Immunology, and Pulmonology, 2015
The genome as pharmacopeia: association of genetic dose with phenotypic response.
Wadhawan S et al.
Biochemical Pharmacology, 2015
Cystic fibrosis genetics: from molecular understanding to clinical application.
Cutting GR
Nature Reviews. Genetics, 2015
Cystic fibrosis: toward personalized therapies.
Ikpa PT et al.
The International Journal of Biochemistry & Cell Biology, 2014
CFTR: folding, misfolding and correcting the ΔF508 conformational defect.
Lukacs GL et al.
Trends in Molecular Medicine, 2012
The p.Arg258Gly mutation in intracellular loop 2 of CFTR is associated with CFTR-related disorders.
Masvidal L et al.
Genetic Testing and Molecular Biomarkers, 2009
Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.
Krasnov KV et al.
Human Mutation, 2008
Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis.
Chang MC et al.
Clinical Genetics, 2007
Direct interaction with filamins modulates the stability and plasma membrane expression of CFTR.
Thelin WR et al.
The Journal of Clinical Investigation, 2007
Endocytic trafficking of CFTR in health and disease.
Ameen N et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2007
Mutations in the amino terminus of the cystic fibrosis transmembrane conductance regulator enhance endocytosis.
Jurkuvenaite A et al.
The Journal of Biological Chemistry, 2006
Targeted therapy for cystic fibrosis: cystic fibrosis transmembrane conductance regulator mutation-specific pharmacologic strategies.
Rubenstein RC
Molecular Diagnosis & Therapy, 2006
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2005
The role of regulated CFTR trafficking in epithelial secretion.
Bertrand CA et al.
American Journal of Physiology. Cell Physiology, 2003
A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates.
Silvis MR et al.
The Journal of Biological Chemistry, 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
[Cystic fibrosis: current therapy. Molecular genetic diagnosis].
Gallati S
Schweizerische Medizinische Wochenschrift. Supplementum, 2000
Cystic fibrosis mutation frequencies in upstate New York.
Shrimpton AE et al.
Human Mutation, 1997