Major historical advances in cystic fibrosis (CF) respiratory clinical care, including
mechanical airway clearance and inhaled medications, have aimed to address the …

Cystic fibrosis (CF) is caused by~ 300 pathogenic CFTR variants. The heterogeneity of
which, challenges molecular diagnosis and precision medicine approaches in CF. Our …

Highlights•Analyzing CFTR mutations in patients with cystic fibrosis (CF).•Predicting drug
response for CF patients via organoid assays.•Modulating mutant CFTR activity with CF …

BACKGROUND Hepatic steatosis is a common form of cystic fibrosis associated liver
disease (CFLD) seen in an estimated 15%-60% of patients with cystic fibrosis (CF). The …

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 …

Objectives: To investigate the geographic distribution of common cystic fibrosis (CF) variants
in the western and southern regions of Saudi Arabia. Methods: A retrospective study was …

Cystic fibrosis (CF) is inherited by CFTR (cystic fibrosis transmembrane conductance
regulator) gene mutations. A variety of mutations have been identified in the CFTR gene that …

Cystic fibrosis (CF), an autosomal recessive genetic disease, is recognized as one of the
most prevalent diseases in Caucasian populations. Epidemiological data show that the …

Abstract Cystic fibrosis (CF, MIM# 219,700) is an autosomal recessive disease caused by
pathogenic variants within the CFTR gene. It was shown that genetic variants located in cis …

Background A fraction of patients referred for complex molecular profiling of biopsied tumors
may harbor germline variants in genes associated with the development of hereditary …