Mutation profiling of the c.1521_1523delCTT (p.Phe508del, F508del) CFTR allele using haplotype-resolved long-read next generation sequencing.
Sign Up to like & getrecommendations! Published in 2022 at "Human mutation"
DOI: 10.1002/humu.24352
Abstract: Current approaches to characterize the mutational profile of the cystic fibrosis transmembrane conductance regulator (CFTR) gene are based on targeted mutation analysis (TMA) or whole gene studies derived from short-read next generation sequencing (NGS). However,… read more here.
Keywords: cftr; haplotype resolved; f508del; mutation ... See more keywords
F508del CFTR gene mutation in patients with allergic bronchopulmonary aspergillosis
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Asthma"
DOI: 10.1080/02770903.2017.1373808
Abstract: ABSTRACT Objective: The F508del mutation occurs in approximately 3.5% of Caucasian population of Northern Europe. Heterozygotes have increased risk for asthma and reduced pulmonary function. Allergic bronchopulmonary aspergillosis (ABPA) is more common in patients with… read more here.
Keywords: f508del; cftr gene; mutation; aspergillosis ... See more keywords
Impact of CFTR Correctors on the Channel Activity of Rescued F508del CFTR in Airway Epithelial Cells
Sign Up to like & getrecommendations! Published in 2024 at "Physiology"
DOI: 10.1152/physiol.2024.39.s1.1752
Abstract: Cystic fibrosis (CF) is caused by the functional deficiency of a cAMP-activated anion channel known as the cystic fibrosis transmembrane conductance regulator (CFTR). Over 90% of CF patients carry at least one copy of the… read more here.
Keywords: physiology; f508del; channel activity; cftr ... See more keywords
Partially Differentiated Ileal and Rectal Human CFTR-F508del Enteroids Secrete Fluid in Response to cAMP and cGMP: Targeted Preclinical Studies of Pharmaco-Therapy of CF Constipation
Sign Up to like & getrecommendations! Published in 2024 at "Physiology"
DOI: 10.1152/physiol.2024.39.s1.834
Abstract: Introduction: Treatment of Cystic Fibrosis (CF) patients with Trikafta is prolonging life. This has allowed the importance of other causes of morbidity in these patients to become clearer and to emphasize the need to improve… read more here.
Keywords: physiology; f508del enteroids; cgmp; partially differentiated ... See more keywords
A Phase 3 Open-Label Study of Elexacaftor/Tezacaftor/Ivacaftor in Children 6 through 11 Years of Age with Cystic Fibrosis and at Least One F508del Allele
Sign Up to like & getrecommendations! Published in 2021 at "American Journal of Respiratory and Critical Care Medicine"
DOI: 10.1164/rccm.202102-0509oc
Abstract: Rationale: Elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) was shown to be efficacious and safe in patients ≥12 years of age with cystic fibrosis and at least one F508del-CFTR (cystic fibrosis transmembrane conductance regulator) allele, but it has not been… read more here.
Keywords: years age; f508del; cystic fibrosis; elx tez ... See more keywords
Long-Term Safety and Efficacy of Elexacaftor/Tezacaftor/Ivacaftor in Adults and Adolescents with Cystic Fibrosis and at Least One F508del Allele: A Phase 3, Open-Label Extension Study.
Sign Up to like & getrecommendations! Published in 2025 at "American journal of respiratory and critical care medicine"
DOI: 10.1164/rccm.202411-2231oc
Abstract: RATIONALE Clinical and real-world studies show elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) is efficacious and safe in people with cystic fibrosis (CF) ≥12 years of age with at least one F508del allele. OBJECTIVES Given the potential for life-long ELX/TEZ/IVA… read more here.
Keywords: f508del; study; elx tez; tez iva ... See more keywords
Expression of ACE2—a Key SARS-CoV-2 Entry Factor—Is Not Increased in the Nasal Mucosa of People with Cystic Fibrosis
Sign Up to like & getrecommendations! Published in 2022 at "American Journal of Respiratory Cell and Molecular Biology"
DOI: 10.1165/rcmb.2021-0341le
Abstract: Mutations in CFTR (cystic fibrosis transmembrane regulator) lead indirectly to impaired innate defense of the respiratory tract, and people with cystic fibrosis (PwCF) develop a host of bacterial and fungal infections. The role of viruses… read more here.
Keywords: genes upregulated; expression; f508del; cluster ... See more keywords
Allosteric folding correction of F508del and rare CFTR mutants by elexacaftor-tezacaftor-ivacaftor (Trikafta) combination
Sign Up to like & getrecommendations! Published in 2020 at "JCI Insight"
DOI: 10.1172/jci.insight.139983
Abstract: Based on its clinical benefits, Trikafta — the combination of folding correctors VX-661 (tezacaftor), VX-445 (elexacaftor), and the gating potentiator VX-770 (ivacaftor) — was FDA approved for treatment of patients with cystic fibrosis (CF) carrying… read more here.
Keywords: ivacaftor; combination; tezacaftor; cftr ... See more keywords
Deleterious effect of Pseudomonas aeruginosa on F508del-CFTR rescued by elexacaftor/tezacaftor/ivacaftor is clinical strain-dependent in patient-derived nasal cells
Sign Up to like & getrecommendations! Published in 2024 at "ERJ Open Research"
DOI: 10.1183/23120541.00970-2024
Abstract: Graphical abstract Pseudomonas aeruginosa infection reduces ETI treatment efficacy. BAL: bronchoalveolar lavage; ETI: elexacaftor/tezacaftor/ivacaftor. Background The triple cystic fibrosis transmembrane conductance regulator (CFTR) modulators combination elexacaftor/tezacaftor/ivacaftor (ETI) has been approved for people with cystic fibrosis… read more here.
Keywords: f508del cftr; elexacaftor tezacaftor; pseudomonas aeruginosa; cftr ... See more keywords
Anti-Infectives Restore ORKAMBI® Rescue of F508del-CFTR Function in Human Bronchial Epithelial Cells Infected with Clinical Strains of P. aeruginosa
Sign Up to like & getrecommendations! Published in 2020 at "Biomolecules"
DOI: 10.3390/biom10020334
Abstract: Chronic infection and inflammation are the primary causes of declining lung function in Cystic Fibrosis (CF) patients. ORKAMBI® (Lumacaftor-Ivacaftor) is an approved combination therapy for Cystic Fibrosis (CF) patients bearing the most common mutation, F508del,… read more here.
Keywords: cftr function; f508del cftr; rescue; human bronchial ... See more keywords
Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del]
Sign Up to like & getrecommendations! Published in 2022 at "Current Issues in Molecular Biology"
DOI: 10.3390/cimb44100349
Abstract: The presence of complex alleles in the CFTR gene can lead to difficulties in diagnosing cystic fibrosis and cause resistance to therapy with CFTR modulators. Tezacaftor/ivacaftor therapy for 8 months in a patient with the… read more here.
Keywords: allele l467f; cftr; tezacaftor ivacaftor; f508del ... See more keywords