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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...
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...
Projected Impacts of Climate Change on Interactions Between Plants and Avian Frugivores Across the AmericasNARA Subscribed
Aim Frugivorous birds provide crucial seed‐dispersal functions in terrestrial ecosystems. However, the impact of climate change on plant–avian frugivore interactions remains unclear due to past methodological limitations. In this study, we address this by mapping these interactions across the Americas and projecting shifts in interaction diversity under future climate scenarios. Location North, South, and Central America. Time...
Calibration of the species threat abatement and restoration metric's threat abatement component in a Costa Rican landscapeNARA Subscribed
Achieving global conservation policy goals requires the ability to set and measure progress toward science‐based targets for biodiversity. The species threat abatement and restoration (STAR) metric was developed to enable actors to set science‐based targets for species. STAR scores quantify the potential contribution of actions to abate threats and restore habitat to reduce species extinction risk in a particular place and can...
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...
SNAPSHOT USA 2024: Year 6 of the Coordinated National Camera Trap Survey of the United StatesNARA Subscribed
Motivation SNAPSHOT USA is an annual, multi‐contributor camera trap survey of mammals across the United States. The growing SNAPSHOT USA dataset is intended for tracking the spatial and temporal responses of mammal populations to changes in land use, land cover and climate. These data will be useful for exploring the drivers of spatial and temporal changes in relative abundance and distribution, as well as the impacts of speci...
First Molecular Detection of Mycobacterium ulcerans pseudoshottsii From Gulf Strain Striped Bass ( Morone saxatilis )NARA Subscribed
Mycobacterium ulcerans pseudoshottsii is a mycolactone‐producing bacterium previously isolated from Striped Bass ( Morone saxatilis (Walbaum)) from Chesapeake Bay and adjacent waters of the Atlantic Coast of North America. We report the first molecular detection of this pathogen in the native Gulf strain of Morone saxatilis collected from the Pearl River, Mississippi (USA). Molecular identification was conducted using a novel...
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...