An abnormal expansion of a GGGGCC (GC) hexanucleotide repeat in the C9ORF72 gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two debilitating neurodegenerative disorders driven in part by gain-of-function mechanisms involving transcribed forms of the repeat expansion. By utilizing a Cas13 variant with reduced collateral effects, we develop here a high-fidelity RNA-targeting CRISPR-based system for C9ORF72-linked ALS/FTD. When delivered to the brain of a transgenic rodent model, this Cas13-based platform curbed the expression of the GC repeat-containing RNA without affecting normal C9ORF72 levels, which in turn decreased the formation of RNA foci, reduced the production of a dipeptide repeat protein, and reversed transcriptional deficits.
View Article and Find Full Text PDFSucrose nonfermenting-1-related protein kinase 2 (SnRK2) intricately modulates plant responses to abiotic stresses and abscisic acid (ABA) signaling. In pepper genome, five SnRK2 genes with sequence homology to CaSnRK2.6 showed distinct expression patterns across various pepper organs and in response to treatments with ABA, drought, mannitol, and salt.
View Article and Find Full Text PDFBosniak classification version 2019 (v2019) was a major revision to version 2005 (v2005) that defined cystic renal mass subclasses based on wall or septa features. To determine the proportion of malignancy within cystic renal masses stratified by Bosniak classification v2019 class and feature-based subclass. MEDLINE and EMBASE databases were searched on July 24, 2023 for studies published in 2019 or later that reported cystic renal masses that underwent renal-mass CT or MRI, were assessed using Bosniak v2019, and had a reference standard (histopathology indicating benignity or malignancy or ≥5-year imaging follow-up indicating benignity).
View Article and Find Full Text PDFBackground/objectives: Dry eye disease (DED) significantly impairs quality of life, affecting physical, social, and psychological well-being, as well as reducing workplace productivity. While lutein and zeaxanthin supplements have been shown to improve ocular health, existing research often overlooks the efficacy of lower dosages and shorter durations of supplementation. This study investigated the effects of combined supplementation with lutein, zeaxanthin, and elderberries in 110 voluntary participants through a randomized controlled trial.
View Article and Find Full Text PDFTFRC-KFRI-1, isolated from the gut of Manila Clam in the sediment of the West Sea of Korea, was investigated for its potential as a probiotic bacterium. This strain, belonging to the family , was previously classified as but later reclassified to the genus , known for species with bioremediation and probiotic properties. To evaluate its genomic features and potential applications, we performed draft-genome sequencing and analysis.
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