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
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
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
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
The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23063175
Abstract: Loss-of-function mutations of the CFTR gene cause cystic fibrosis (CF) through a variety of molecular mechanisms involving altered expression, trafficking, and/or activity of the CFTR chloride channel. The most frequent mutation among CF patients, F508del,… read more here.
Keywords: cftr; elexacaftor tezacaftor; l467f f508del; f508del ... See more keywords
Evaluation of the Complex p.[Leu467Phe;Phe508del] CFTR Allele in the Intestinal Organoids Model: Implications for Therapy
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms231810377
Abstract: In the cohort of Russian patients with cystic fibrosis, the p.[Leu467Phe;Phe508del] complex allele (legacy name [L467F;F508del]) of the CFTR gene is understudied. In this research, we present the results of frequency evaluation of the [L467F;F508del]… read more here.
Keywords: leu467phe phe508del; cftr; f508del genotype; f508del ... See more keywords
Modulator Therapy in Cystic Fibrosis Patients with cis Variants in F508del Complex Allele: A Short-Term Observational Case Series
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Personalized Medicine"
DOI: 10.3390/jpm12091421
Abstract: Previous studies reported the influence of cis variants in F508del cystic fibrosis (CF) patients in their responses to CFTR modulators. The current study is a prospective, observational study involving three patients with CF and pancreatic… read more here.
Keywords: fibrosis patients; variants f508del; f508del; cis variants ... See more keywords