Results 81 to 90 of about 12,522 (293)
Molecular basis of cystic fibrosis and modern therapeutic approaches [PDF]
, 2019 Identifikacija molekularne povezanosti između genske nefunkcionalnosti CFTR gena te patofiziološke i kliničke pozadine cistične fibroze omogućila je razvoj suvremenih terapijskih modela koji su primarno utemeljeni na individualiziranom pristupu ...
Dragičević, Dorian
core +2 more sources
Biology of Cholangiocytes: From Bench to Bedside [PDF]
, 2016 Cholangiocytes, the lining epithelial cells in bile ducts, are an important subset of liver cells. They are activated by endogenous and exogenous stimuli and are involved in the modification of bile volume and composition.
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British Journal of Clinical Pharmacology, EarlyView.Small and mid‐sized pharmaceutical innovators often have limited in‐house health economics and market access expertise, and may struggle to align development strategies of investigational medicinal products with health system needs and payer expectations.
Zoltán Kaló +5 more
wiley +1 more source
International Journal of Molecular Sciences, 2022 Highly effective cystic fibrosis transmembrane conductance regulator (CFTR) modulators have led to dramatic improvements in lung function in many people with cystic fibrosis (PwCF). However, the efficacy of CFTR modulators may be hindered by persistent airway inflammation.
Charles Bengtson +7 more
openaire +2 more sources
CFTR Modulators in People with Cystic Fibrosis: Real-World Evidence in France
Cells, 2022 Cystic fibrosis (CF) is a rare genetic multisystemic disease, the manifestations of which are due to mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein and can lead to respiratory insufficiency and premature death ...
Lucile Regard +4 more
doaj +1 more source
CFTR activity and mitochondrial function [PDF]
, 2013 Cystic Fibrosis (CF) is a frequent and lethal autosomal recessive disease, caused by mutations in the gene encoding the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR).
Santa Coloma, Tomás Antonio +1 more
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British Journal of Clinical Pharmacology, EarlyView.Aim Elexacaftor/tezacaftor/ivacaftor (ETI) has markedly improved cystic fibrosis (CF) outcomes. However, its long‐term impact on nutrition, metabolism and liver health remains underexplored. We assessed 30‐month changes in pulmonary, nutritional, metabolic and inflammatory markers in people with CF (PwCF) homozygous for F508del.
Nicola Perrotta +5 more
wiley +1 more source
miRNA-221 is elevated in cystic fibrosis airway epithelial cells and regulates expression of ATF6. [PDF]
, 2015 Background MicroRNA (miRNA) and messenger RNA (mRNA) expression differs in cystic fibrosis (CF) versus non-CF bronchial epithelium. Here, the role of miRNA in basal regulation of the transcription factor ATF6 was investigated in bronchial epithelial ...
Agrawal, Raman +4 more
core +2 more sources
Epileptic Disorders, EarlyView.Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley +1 more source
State-dependent modulation of CFTR gating by pyrophosphate [PDF]
Journal of General Physiology, 2009 Cystic fibrosis transmembrane conductance regulator (CFTR) is an adenosine triphosphate (ATP)-gated chloride channel. ATP-induced dimerization of CFTR's two nucleotide-binding domains (NBDs) has been shown to reflect the channel open state, whereas hydrolysis of ATP is associated with channel closure.
Tsai, Ming-Feng +4 more
openaire +2 more sources