The cystic fibrosis transmembrane conductance regulator (CFTR) exhibits two conductance states, 9 picosiemens (pS) and 3 pS. To investigate the origin of these two distinct conductance states, we measured the single-channel activity of three truncated forms of CFTR. These include: TNR, which contains the first transmembrane domain, the first nucleotide binding domain, and the R domain; RT2N2, w...

We assessed changes in parameters (CT scan and PFTs) before targeted therapy children with CF during treatment to determine their dynamics. examined 12 (4 boys, 8 girls) treated elexacaftor+/tezacaftor+/ivacaftor (TRICAFTA®), age at the start of therapy: Me = 15.7 ± 1.5 (min 12.3 - max 17.3); mutations (in 5 patients delF508/delF508, rest: delF508/W1282x, F508del/1259insA, delF508/ del2 3-21 kb...

Cystic fibrosis (CF) is the most common severe autosomal recessive disorder caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The frequencies, types and distributions of mutations vary widely between different populations and ethnic groups. The aim of this study was to perform a comprehensive analysis of the C...

The cystic fibrosis transmembrane conductance regulator (CFTR) is a chloride channel that is defective in cystic fibrosis, and has also been closely associated with ATP permeability in cells. Using a Xenopus oocyte cRNA expression system, we have evaluated the molecular mechanisms that control CFTR-modulated ATP release. CFTR-modulated ATP release was dependent on both cAMP activation and a gra...

Not always patients with cystic fibrosis (CF) have clinical manifestations characteristic of the disease, which is determined by patient’s genotype. A special role in diagnosis occupied ICM borderline sweat test values and rare genetic variants. Objective: To evaluate use practice. Materials methods: was carried out according to European SOP. 104 people were examined: 18 healthy (control group)...

Background: Cystic fibrosis (CF) is an autosomal recessive disorder of the CF transmembrane conductance regulator (CFTR) gene. CFTR modulators are novel approved therapies and triple therapy with elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) current gold-standard for patients at least one F508del mutation. usually well tolerated but some adverse effects may occur, including skin rash, that doe...

Background Cystic fibrosis (CF) is a major life-limiting genetic disease leading to severe respiratory symptoms caused by mutations in CF trans membrane conductance regulator (CFTR), a chloride channel expressed at the apical membrane of epithelial cells. Absence of functional CFTR from the surface of respiratory cells reduces mucociliary clearance, promoting airways obstruction, chronic infect...

A key challenge in cancer treatment and prevention is early disease detection, thus facilitating effective therapeutic intervention to improve quality of life and survival. With molecular genetics playing an increasingly important role in solid tumor diagnostics, the identification of biomarkers that act as signatures of specific cancers at various developmental stages is critical to enable ear...