G378X‐I148T CFTR variant: A new complex allele in a cystic fibrosis newborn with pancreatic insufficiency
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DOI: 10.1002/mgg3.2033
Abstract: Dear Editor, Cystic Fibrosis (CF) is a multisystem disease caused by mutations causing deficient or dysfunctional CF transmembrane conductance regulator (CFTR) protein. Today, the growing proportion of newborn screening (NBS) programmes and the use of… read more here.
Keywords: cftr; i148t; variant; complex allele ... See more keywords
Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del]
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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
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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
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