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http://dx.doi.org/10.1038/s41409-023-02158-2 | DOI Listing |
Mol Ther Nucleic Acids
September 2025
Department of Synthetic Biology and Immunology, National Institute of Chemistry, Hajdrihova 19, 1000 Ljubljana, Slovenia.
Loss-of-function mutations in the gene cause β-catenin deficiency, resulting in CTNNB1 syndrome, a rare neurodevelopmental disorder characterized by motor and cognitive impairments. Given the wide variety of mutations across and its dosage sensitivity, a mutation-independent therapeutic approach that preserves endogenous gene regulation is critically needed. This study introduces spliceosome-mediated RNA -splicing as a novel approach to restore β-catenin production.
View Article and Find Full Text PDFJ Adv Pract Oncol
July 2025
From University of Arkansas, Fayetteville, Arkansas.
Background: Indications for the use of cytomegalovirus (CMV)-neg-ative and irradiated blood products (IRBP) are not standardized and are often poorly understood by providers. This project evaluated the use of a transfusion algorithm in an outpatient oncology clinic to reduce the risk of transfusion-associated graft-vs.-host disease (TA-GVHD) and eliminate the improper use of CMV-negative and irradiated blood products.
View Article and Find Full Text PDFAlcohol Clin Exp Res (Hoboken)
July 2025
Framingham Heart Study, National Heart, Lung, and Blood Institute and Boston University School of Medicine, Framingham, Massachusetts, USA.
Background: Alcohol consumption affects immune function, with excessive intake linked to immune suppression and inflammation. However, its impact on immune cell phenotypes remains unclear. This study investigates the association between alcohol consumption and immune cell profiles in a well-characterized Framingham Heart Study (FHS) cohort while examining sex-specific differences in alcohol-immune cell associations.
View Article and Find Full Text PDFBrain Commun
May 2025
Laboratory for Molecular Neurobiomarker Research, Department of Neurosciences, Leuven Brain Institute (LBI), KU Leuven, 3000 Leuven, Belgium.
Synaptic loss is an early hallmark of many neurological disorders, including Alzheimer's disease, but also occurs in aging brains as evidenced by PET- and CSF-based biomarker studies. This cross-sectional study investigates how blood-based synaptic proteins and other biomarkers relate to synaptic density in brains of older adults without dementia, and how these associations are mediated by gray matter (GM) loss. Plasma levels of synaptic biomarkers including synaptosomal-associated protein of 25 kDa and vesicle-associated membrane protein 2 as well as amyloid, tau, neurodegeneration and neuroinflammation (ATN(I)) biomarkers including the amyloid-β/amyloid-β ratio, phosphorylated tau181, neurofilament light and glial fibrillary acidic protein were quantified in 61 older adults without dementia [mean age ± standard deviation = 71 ± 6 years, median Mini-Mental State Examination score (interquartile range) = 29 (3), 64% female, 38% late-life depression] who underwent synaptic vesicle glycoprotein 2A PET and T-weighted MRI.
View Article and Find Full Text PDFCureus
May 2025
Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, JPN.
Bullous keratopathy is a condition that arises from corneal endothelial dysfunction, leading to corneal edema. Corneal transplantation has historically served as the standard treatment for cases with severe visual impairment due to edema, given the generally accepted irreversible nature of the condition. The present case report documents the successful management of a patient with steroid-resistant corneal edema through administering anti-cytomegalovirus (CMV) therapy, thereby underscoring the potential for alternative treatment modalities in cases of visual impairment due to corneal edema.
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