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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 Interrelationship between Cadmium, Smoking, and Migraine in the ELSA-Brasil StudyNARA Subscribed
This study explored the relationship between serum cadmium (Cd), smoking exposure, and migraine in the ELSA-Brasil cohort (2008–2010). The analysis included 2,750 participants whose serum Cd levels were measured using inductively coupled plasma mass spectrometry. Smoking exposure was assessed using self-report data of active smoking and second-hand smoke. Migraine, including definite and probable migraine, was diagnosed accord...
Freshwater biodiversity in a rapidly changing Arctic: An expert horizon scan of key research questionsNARA Subscribed
Arctic freshwater biodiversity is rapidly changing due to climate warming, resource extraction, infrastructure development, and landscape transformation. To improve understanding, predict future responses, and inform policy formulation, research needs must be clearly identified. Using a horizon scan survey, Arctic freshwater experts from government, international agencies, and Indigenous Peoples identified 77 biodiversity rese...
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...
Hydroclimate volatility poses a growing threat to species' persistence, particularly when combined with widespread habitat loss and other stressors. Although the negative impacts of drought on aquatic species are well documented, wet conditions are generally assumed to enhance recruitment of migratory species during freshwater life stages. Life‐history theory predicts that species with multiple migratory strategies should be m...
Success of restoration strategies in preventing extirpation of 2 critically endangered coral speciesNARA Subscribed
An unprecedented marine heatwave in 2023 caused widespread coral bleaching and mortality throughout the Caribbean. In the Florida Keys (USA), 2 foundation species, elkhorn coral ( Acropora palmata ) and staghorn coral ( Acropora cervicornis ), were severely affected. These species have been the primary focus of reef restoration in Florida for decades. Substantial losses of these species occurred in outplanted populations, in o...