Results 41 to 50 of about 2,581 (157)
Orphanet Journal of Rare Diseases, 2018 Background Lumacaftor/ivacaftor was approved by the Food and Drug Administration (FDA) as a combination treatment for Cystic Fibrosis (CF) patients who are homozygous for the F508del mutation.
Dolly Sharma +5 more
doaj +1 more source
Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies
Jornal de Pediatria, 2022 Objectives: Cystic fibrosis (CF) is a severe autosomal recessive disease that results from mutations in a gene encoding the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein, a chloride channel.
Juliana Roda +6 more
doaj +1 more source
Ion Channel Dysfunction and Therapeutic Targeting in Salivary Gland Disorders
Oral Diseases, EarlyView.ABSTRACT Objective Salivary gland hypofunction and xerostomia represent major clinical complications of radiation therapy, autoimmune disorders such as Sjögren's disease, and inherited epithelial ion transport defects. This review integrates current knowledge on ion channel dysfunction as a central mechanistic driver of salivary gland pathology and ...
Tarek Mohamed Abd El‐Aziz +6 more
wiley +1 more source
Therapeutic Advances in Respiratory Disease, 2019 Background: Lumacaftor/ivacaftor combination therapy is efficacious and generally safe for patients with cystic fibrosis (CF) homozygous for the F508del-CF transmembrane conductance regulator (CFTR) mutation.
Jaime L. Rubin +7 more
doaj +1 more source
Ex vivo model predicted in vivo efficacy of CFTR modulator therapy in a child with rare genotype
Molecular Genetics & Genomic Medicine, 2021 Background New drugs that target the basic defect in cystic fibrosis (CF) patients may now be used in a large number of patients carrying responsive mutations. Nevertheless, further research is needed to extend the benefit of these treatments to patients
Vito Terlizzi +6 more
doaj +1 more source
The Journal of Physiology, EarlyView.Abstract figure legend Cardiac cellular electrophysiology is modulated by multiple factors, including temperature, extracellular K+, heart rate/pacing frequency, and drugs. These modulators can have distinct effects on ion‐channel gating and transcription/trafficking over time.
Stefan Meier +3 more
wiley +1 more source
hERG1 channels and potential therapeutics for long QT syndrome
The Journal of Physiology, EarlyView.Abstract figure legend Prolonged QT results from hERG1 channel dysfunction. (A) Physiological anterograde trafficking of hERG1 channels to the plasma membrane, leading to a normal electrocardiogram. (B) Prolonged QT results from the presence of fewer hERG1 channels on the plasma membrane due to decreased anterograde trafficking or reduced function due ...
Elizabeth H. Schneider +3 more
wiley +1 more source
Pregnancy, Volume 2, Issue 4, July 2026.Abstract Background The consequences of cystic fibrosis (CF) transmembrane conductance regulator (CFTR) protein dysfunction or absence begin during fetal development, with pancreatic, intestinal, hepatobiliary, and reproductive manifestations evident at birth.
Hiba J. Mustafa +15 more
wiley +1 more source
BMC Pharmacology and Toxicology, 2022 Background Lumacaftor/Ivacaftor (LUM-IVA), a cystic fibrosis transmembrane conductance regulator (CFTR) protein corrector-potentiator combination, improves lung function and reduces pulmonary exacerbations (PEx) in F508del homozygous CF patients. However,
Karin Yaacoby-Bianu +7 more
doaj +1 more source
ERJ Open Research, 2020 Background Epithelial sodium channel (ENaC) is an important regulator of airway surface liquid volume; ENaC is hyperactivated in cystic fibrosis (CF). ENaC inhibition is a potential therapeutic target for CF.
Peter Nickolaus +4 more
doaj +1 more source