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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...
Assessing species richness (i.e., the number of species in a specific area) is of significant ecological relevance across theoretical, empirical, and practical applications. Accurately estimating species richness remains a persistent statistical challenge, as direct species counts are often unreliable. Consequently, numerous species richness estimation methods have been developed to accommodate a wide range of data types, rese...
An experimental approach to assess the combined effects of multiple stressors on a large vertebrate speciesNARA Subscribed
The design of experiments to investigate the combined effects of multiple stressors requires exposing target organisms to multiple combinations of stressor doses. Concurrent manipulation of stressors is often infeasible with wildlife, but long‐lasting health effects allow individual health to be used as an integrator of prior stressor exposure. The population of bottlenose dolphins in Barataria Bay, Louisiana, experienced long...
Implications of Maternal Toxicant Effects on Size‐Dependent Fisheries' Management: A Meta‐AnalysisNARA Subscribed
Bioaccumulation of environmental toxicants in aquatic ecosystems presents a significant ecological challenge including potential implications for fish reproduction and population dynamics. Through this meta‐analysis, we investigated how elevated mercury (Hg) and polychlorinated biphenyls (PCBs)—two prevalent and problematic contaminants—in large, and presumably old fish, affect toxicant concentrations in their eggs and subsequ...
Understanding how temperature‐sensitive organisms respond to environmental change is central to addressing challenges in public health, biodiversity conservation and food security. For many ectotherms, abiotic and biotic factors shape their abundance and distribution by generating stage‐specific variation in life history traits. Although previous studies have examined temperature, rainfall, competition and habitat quality in r...
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...
Small Molecules to Elevate Rab7-GTPase Activity and Lower Cholesterol Accumulation in Niemann-Pick Type C DiseaseNARA Subscribed
Purpose Niemann-Pick type C (NPC) disease caused by mutations in cholesterol transporters NPC1 or NPC2 is characterized by cholesterol accumulation in late endosomes/lysosomes (LE/Lys). The activation of alternative cholesterol export routes that can bypass NPC1/2 deficiency could provide therapeutic opportunities. We previously demonstrated that gene depletion of the Rab7-GTPase activating protein (GAP) TBC1D15, which hydroly...
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...
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...
Living shorelines, a prevalent nature‐based coastal infrastructure technique, typically merge the restoration of coastal habitats (e.g., salt marsh, oyster reef) with gray infrastructure (e.g., rock or concrete breakwaters) to provide coastal erosion protection. With increasingly frequent and severe storms, living shorelines have been shown to effectively limit coastal erosion and loss; however, there is still uncertainty rega...
Beyond strength: dietary nitrate augments self-selected functional mobility after resistance training in middle-aged adultsNARA Subscribed
This study aimed to assess whether dietary nitrate supplementation with resistance training (RT) augments gait performance and functional mobility in inactive middle-aged and older adults. We hypothesized that combining nitrate-rich beetroot juice (BRJ) with RT would yield improvements in gait and functional mobility compared to RT with nitrate-depleted beetroot juice placebo (PLA) supplementation. In this 12-week, randomized,...
Visual cortical responses in age-related hearing loss show evidence for compensatory neuroplasticityNARA Subscribed
Sensory loss is prevalent in older adults and is associated with changes to brain structure and function. In early life, the brain compensates for sensory loss by upregulating intact senses, such as in deafness where neural sensitivity for vision increases and visual peripheral perception improves. However, it is unclear if similar neuroplastic compensation occurs in older adults with sensory loss, which would show the aging b...