Results 61 to 70 of about 3,514 (179)
Frontiers in Pediatrics, 2023 BackgroundBarth syndrome is a rare genetic disease characterized by cardiomyopathy, skeletal muscle weakness, neutropenia, growth retardation and organic aciduria.
Nicola Tovaglieri +4 more
doaj +1 more source
Neural Domain Adaptation for Biomedical Question Answering
, 2017 Factoid question answering (QA) has recently benefited from the development of deep learning (DL) systems. Neural network models outperform traditional approaches in domains where large datasets exist, such as SQuAD (ca.
Neves, Mariana +2 more
core +1 more source
Mitochondrial dynamism and heart disease: Changing shape and shaping change [PDF]
, 2015 Mitochondria of adult cardiomyocytes appear hypo-dynamic, lacking interconnected reticular networks and the continual fission and fusion observed in many other cell types.
Dorn, Gerald W, II
core +2 more sources
The effects of sodium–glucose cotransporter 2 inhibitors on the ‘forgotten’ right ventricle
ESC Heart Failure, Volume 12, Issue 2, Page 1045-1058, April 2025.Abstract With the progress in diagnosis, treatment and imaging techniques, there is a growing recognition that impaired right ventricular (RV) function profoundly affects the prognosis of patients with heart failure (HF), irrespective of their left ventricular ejection fraction (LVEF).
Liangzhen Qu, Xueting Duan, Han Chen
wiley +1 more source
Loss of PLA2G6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction [PDF]
, 2015 © 2015 The Author.The PLA2G6 gene encodes a group VIA calcium-independent phospholipase A2 beta enzyme that selectively hydrolyses glycerophospholipids to release free fatty acids. Mutations in PLA2G6 have been associated with disorders such as infantile
Abramov, AY +12 more
core +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust +15 more
wiley +1 more source
Substantial Decrease in Plasmalogen in the Heart Associated with Tafazzin Deficiency [PDF]
Biochemistry, 2018 Tafazzin is the mitochondrial enzyme that catalyzes transacylation between a phospholipid and a lysophospholipid in remodeling. Mutations in tafazzin cause Barth syndrome, a potentially life-threatening disease with the major symptom being cardiomyopathy.
Tomohiro Kimura +6 more
openaire +2 more sources
Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review
British Journal of Pharmacology, EarlyView.Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos +16 more
wiley +1 more source
Tafazzin regulates the function of lipopolysaccharide activated B lymphocytes in mice [PDF]
, 2021 AbstractB lymphocytes are responsible for humoral immunity and play a key role in the immune response. Optimal mitochondrial function is required to support B cell activity during activation. We examined how deficiency of tafazzin, a cardiolipin remodeling enzyme required for mitochondrial function, alters the metabolic activity of B cells and their ...
Hana M. Zegallai +7 more
openaire +1 more source
Frontiers in Cardiovascular Medicine, 2022 Barth syndrome (BTHS) is a rare genetic disorder due to mutations in the TAFAZZIN gene, leading to impaired maturation of cardiolipin and thereby adversely affecting mitochondrial function and energy metabolism, often resulting in cardiomyopathy.
Amanda A. Greenwell +28 more
doaj +1 more source