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A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolvedNARA Subscribed
Pathogenic DEGS1 variants have been reported in individuals with autosomal recessive hypomyelinating leukodystrophy 18 (HLD18; MIM# 618404). Here we describe three participants with HLD features and a previously unreported homozygous DEGS1 5′ splice site variant, c.825+4_825 + 5delAGinsTT (NM_003676.4). We used next-generation DNA and transcriptome sequencing, cell-based splicing assays, and tandem mass spectrometry to detect...
Agricultural soils are increasingly contaminated with microplastics (MPs) and antimicrobial agents, yet the interplay between these pollutants and their effects on soil health, plant growth and development, and microbial communities remains underexplored. Here we investigated the influence of polyamide (PA) microplastics and three prevalent antimicrobials: sulfamethoxazole (SMX), ciprofloxacin (CIP), and triclosan (TCS) on ric...
Temporal transcriptomic profiling identifies core regulators in cytokine-induced gut barrier disruption in differentiated Caco-2 cellsNARA Subscribed
Objective The intestinal epithelial barrier maintains gut homeostasis, and its disruption contributes to inflammatory diseases such as Inflammatory Bowel Diseases (IBD). Although barrier restoration is a promising therapeutic strategy, most current approaches target immune responses rather than epithelial function. Since barrier injury and repair progress through discrete phases, this study aimed to define time-resolved epithe...
The hyperiid amphipod Brachyscelus rapacoides is a warm-water species associated with gelatinous zooplankton. In the Mediterranean it has been reported in association with Rhopilema nomadica in both Israel and Turkey. Here, we document the first record of B. rapacoides in Greek waters, representing the first confirmed record for Europe, based on both morphological examination and DNA barcoding of the mitochondrial COI gene. Sp...
Population genomics for biodiversity conservation: Insights from the Swiss pilot study for monitoring genetic diversityNARA Subscribed
Genetic diversity is the raw material of evolution and is essential for adaptation and survival. Concerted efforts have been made under the Kunming-Montreal Global Biodiversity Framework (GBF) to incorporate intraspecific genetic diversity into national monitoring efforts. Much emphasis has been put on non-genetic proxies of genetic diversity, due to the limited amount of genetic data currently available on species and their p...
Interpretable deep learning reveals spatiotemporal MRI features of brain aging that align with neurodegenerationNARA Subscribed
Cortical thinning and atrophy are hallmarks of brain aging that have been characterized using magnetic resonance imaging (MRI). Brain aging involves many neuroanatomic features whose effects on brain structure remain unexplored. To address this challenge, we trained interpretable deep neural networks (DNNs) to estimate brain age (BA) from T 1 -weighted ( T 1 w) MRI. By identifying MRI features unapparent to humans, DNNs can fi...
Alzheimer’s disease (AD) disproportionately affects women and carriers of the apolipoprotein E ε4 allele (APOE4), yet little is known about how sex and APOE interact to influence white matter (WM) integrity during disease progression. We integrated diffusion MRI and matched blood transcriptomic data to investigate these interactions and their underlying biological mechanisms. WM microstructure was quantified using diffusion te...
Marine megafauna species are affected by a wide range of anthropogenic threats. To evaluate the risk of such threats, species’ vulnerability to each threat must first be determined. We build on the existing threats classification scheme and ranking system of the International Union for Conservation of Nature (IUCN) Red List of Threatened Species by assessing the vulnerability of 256 marine megafauna species to 23 at‐sea threat...
The Toxicology Investigators Consortium 2024 Annual ReportNARA Subscribed
The Impact of Pleistocene Glacial Cycles on the Evolutionary Diversification of the Arctic‐Alpine Silene acaulis Species ComplexNARA Subscribed
Arctic‐alpine species are highly sensitive to long‐term temperature changes and associated glacial cycles due to their occurrence in cold environments to which they are adapted and spatially restricted. Unravelling their evolutionary responses to past climatic fluctuations can provide new insights into their diversification. In this study, we investigated the evolutionary history of the Silene acaulis species complex and how i...
Local Stones and the Singularity of the Urban Landscape: Bizkaia Limestones (North Spain)NARA Subscribed
The stone used in historic buildings gives individual cities and towns their own unique character. The chief purpose of this project was to showcase the use of stone in built elements and to create a systematic protocol for compiling data from towns and cities. Three ornamental limestones were selected from the province of Bizkaia (Spain), all of which are recognised locally, nationally and even internationally: Red Ereño , Bl...