Results 41 to 50 of about 3,939 (151)
Advanced Science, EarlyView.This study reveals a novel GC therapy targeting cholesterol homeostasis. Inhibiting the SCAP sterol‐sensing domain causes lethal ER stress via cholesterol accumulation, paradoxically forcing continuous synthesis that triggers ferroptosis. The findings link sterol sensing, metabolic dysregulation, and ferroptosis, establishing an anti‐cancer paradigm ...
Qianqian Xu +17 more
wiley +1 more source
Journal of Translational MedicineBackground Dietary cholesterol promotes metabolic dysfunction-associated steatohepatitis (MASH), with hepatic macrophages central to disease pathology. However, the mechanisms by which cholesterol-loaded macrophages influence MASH remain unclear. Methods
Xiaoxiao Li +7 more
doaj +1 more source
Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas +6 more
wiley +1 more source
Harnessing ferroptosis from multilayer defense networks to nanoplatforms for specific cancer therapy
BMEMat, EarlyView.Nanomaterials target metabolically‐regulated ferroptosis for cancer therapy. Iron‐based or alternative nanoplatforms integrate ferroptosis with chemotherapy, immunotherapy, or radiotherapy. They enable stimulus‐responsive therapies (photothermal, photodynamic, sonodynamic) activated by near‐infrared, light, or ultrasound, achieving potent synergistic ...
Xinyue Xu +5 more
wiley +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
Association of Vitamin D, Zinc and Selenium Related Genetic Variants With COVID-19 Disease Severity
Frontiers in Nutrition, 2021 Background: COVID-19 pandemic has proved to be an unrelenting health threat for more than a year now. The emerging amount of data indicates that vitamin D, zinc and selenium could be important for clinical presentation of COVID-19.
Nikola Kotur +16 more
doaj +1 more source
Genetic testing in paediatric neurological disorders
Developmental Medicine &Child Neurology, EarlyView.In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba +15 more
wiley +1 more source
The FEBS Journal, EarlyView.TGF‐β signaling regulates extracellular vesicle (EV) release in cancer cells by modulating the expression and activity of genes associated with EV biogenesis. The TGF‐β‐induced upregulation of RAB4A expression facilitates fast endosomal recycling, a process that limits the fusion of multivesicular bodies with the plasma membrane and EV secretion. Hence,
Dorival Mendes Rodrigues‐Junior +5 more
wiley +1 more source
Craniofacial bone anomalies related to cholesterol synthesis defects
Scientific ReportsDHCR7 and SC5D are enzymes crucial for cholesterol biosynthesis, and mutations in their genes are associated with developmental disorders, which are characterized by craniofacial deformities.
Chihiro Iwaya +4 more
doaj +1 more source
Genetic analyses reveal a role for vitamin D insufficiency in HCV-associated hepatocellular carcinoma development. [PDF]
PLoS ONE, 2013 Vitamin D insufficiency has been associated with the occurrence of various types of cancer, but causal relationships remain elusive. We therefore aimed to determine the relationship between genetic determinants of vitamin D serum levels and the risk of ...
Christian M Lange +24 more
doaj +1 more source