Results 101 to 110 of about 952,925 (309)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Elevated Paracellular Glucose Flux across Cystic Fibrosis Airway Epithelial Monolayers Is an Important Factor for Pseudomonas aeruginosa Growth. [PDF]
, 2013 People with cystic fibrosis (CF) who develop related diabetes (CFRD) have accelerated pulmonary decline, increased infection with antibiotic-resistant Pseudomonas aeruginosa and increased pulmonary exacerbations.
James P Garnett +27 more
core +1 more source
ERJ Open ResearchBackground People living with cystic fibrosis in Denmark had early, universal access to triple modulator treatment with elexacaftor/tezacaftor/ivacaftor.
Christian Leo-Hansen +19 more
doaj +1 more source
Korean Journal of Pediatrics, 2010 Renal fibrosis, characterized by tubulointerstitial fibrosis and glomerulosclerosis, is the final manifestation of chronic kidney disease. Renal fibrosis is characterized by an excessive accumulation and deposition of extracellular matrix components. This pathologic result usually originates from both underlying complicated cellular activities such as ...
openaire +3 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
An exploration of the factors involved in lifestyle decisions in young people with cystic fibrosis using decision making vignettes, and the role of perceived risk in infection [PDF]
, 2010 This study explored the factors involved in lifestyle decision making in young people with Cystic Fibrosis, specifically the role of infection risk. Certain pathogens present a high risk of infection to people with Cystic Fibrosis, and can significantly
Brash, Lisa Marie
core +3 more sources
Arthritis Care &Research, EarlyView.Objective The aim of this study was to determine the differences in demographic, serologic, and clinical characteristics between male and female patients with systemic sclerosis (SSc) in an Australian cohort. Methods This was a retrospective observational study using data from the Australian Scleroderma Cohort Study.
Emily Lin +14 more
wiley +1 more source
, 2022 Fatty liver (i.e., hepatic lipidosis) is a major metabolic disorder of dairy cows during the transition period, accompanied by numerous pathological alterations.
LIN LEI (10997319)
core +1 more source
American Journal of Respiratory and Critical Care Medicine, 2021 Vijayakumar, Bavithra, Shah, Pallav L.
openaire +2 more sources
Arthritis Care &Research, EarlyView.Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos +2 more
wiley +1 more source