R. Stone results 182
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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...
Hatch timing and growth of juvenile polar cod (Boreogadus saida) in a warming Arctic: insights into overwinter survival potentialNARA Subscribed
Polar cod ( Boreogadus saida ) is a widespread, cold-adapted fish that plays a central role in Arctic food webs. Rising temperatures, declining sea ice, and associated changes in ecosystem dynamics may threaten this species. We investigated the influence of temperature on the pre-winter size of juvenile polar cod (an important predictor of overwinter survival and recruitment), examining hatch timing and growth across warm and...
A Framework to Investigate the Effects of Observation Error on Neural Network Predictions of Fish AgeNARA Subscribed
Technological innovations for predicting fish age represent a paradigm shift from conventional age estimation methods used in fisheries science. Recently developed secondary methods rely on models trained on conventional age estimates, derived from subjective interpretation of growth patterns and a biological property of the fish to predict age. Hence, quantifying the error that propagates from these models and the conventiona...
Introduction Maritime transport is a major source of air pollutants yet remains one of the least regulated sectors globally. In the North Sea, vessel activity associated with offshore energy infrastructure decommissioning is expected to increase over the next decade. However, vessel-specific emissions during these activities remain poorly quantified, with existing approaches relying largely on coarse-scale estimates. This stud...
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...
Examining life cycle impacts of metropolitan food system scenarios: comparing top-down and bottom-up LCA modeling approachesNARA Subscribed
Purpose Food systems have evolved to supply the growing demands of urban populations, often without providing reliable supplies of nutritious, environmentally sustainable foods. In this study we assessed life cycle impacts (global warming potential (GWP), energy, water, and land use) for the Des Moines Metropolitan Statistical Area (DM-MSA) U.S. Midwest) food system, comparing two LCA modeling approaches. Methods Metropolitan...
Moth, beetle, and bug assemblages are shaped differently across a tropical rainforest vertical gradientNARA Subscribed
Tropical forests harbour a large proportion of Earth’s insect biodiversity. Tropical forest structure produces layers of habitat from the cooler, wetter understorey to the hotter, drier canopy, which provide stratified resources for inhabitants. This gradient of biotic and abiotic factors results in vertically stratified insect communities, often with different assemblages in the understorey and canopy. Vertical distributions...
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...
Predicting the progression of MCI and Alzheimer’s disease on structural brain integrity and other features with machine learningNARA Subscribed
Machine learning (ML) on structural MRI data shows high potential for classifying Alzheimer’s disease (AD) progression, but the specific contribution of brain regions, demographics, and proteinopathy remains unclear. Using Alzheimer’s Disease Neuroimaging Initiative (ADNI) data, we applied an extreme gradient-boosting algorithm and SHAP (SHapley Additive exPlanations) values to classify cognitively normal (CN) older adults, th...
Tree diversity shapes the spectral signature of light transmittance in developing forestsNARA Subscribed
Greater tree diversity often increases forest productivity by increasing the fraction of light captured and the effectiveness of light use at the community scale. However, light may shape forest function not only as a source of energy or a cause of stress but also as a context cue: Plant photoreceptors can detect specific wavelengths of light, and plants use this information to assess their neighborhoods and adjust their patte...
Germline copy number variants and endometrial cancer riskNARA Subscribed
Known risk loci for endometrial cancer explain approximately one third of familial endometrial cancer. However, the association of germline copy number variants (CNVs) with endometrial cancer risk remains relatively unknown. We conducted a genome-wide analysis of rare CNVs overlapping gene regions in 4115 endometrial cancer cases and 17,818 controls to identify functionally relevant variants associated with disease. We identif...