M. Stone results 227
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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...
Associations between patterns of brain connectivity and brain structural features have transdiagnostic relevance to psychopathology. There is considerable evidence for disruptions to the hippocampus and temporoparietal brain systems in psychotic disorders. The present study examines structure–function relationships—specifically, the relation of hippocampal volume with patterns of temporoparietal effective connectivity—in youth...
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...
Marine Heatwave Trends in Eastern North America Waters Using a High‐Resolution (5‐km) SST DatasetNARA Subscribed
Marine heatwaves (MHWs) are periods of persistent extreme sea surface temperatures (SSTs) that extend over vast distances and have enormous impacts on marine ecosystems and economies. This study examines SST and MHW trends (1985–2024) in the subtropical and tropical waters adjacent to eastern North America, using the high‐resolution (5 km) NOAA Coral Reef Watch (CRW) dataset, which can elucidate trends both in the open ocean a...
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...
The negative and cognitive symptoms of schizophrenia are predictive of quality of life and functional recovery, but there are no approved drug options that target these symptoms directly. TAK-041 (also known as NBI-1065846) is a selective and potent small-molecule agonist of GPR139, an orphan G-protein-coupled receptor, which has been shown to reverse deficits related to negative and cognitive symptoms in animal models. In thi...
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...
Both local and global climate phenomena shape the hydrologic regimes of watersheds. For aridland rivers in the southwestern United States, peak flows occur during two distinct periods: spring snowmelt and summer monsoons. Although discharge ( Q ) is a primary driver of variation in the production and consumption of instream organic matter, or stream metabolism, few connection have been made regarding how climate impacts ecosys...
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...
Paleoecological History of Maplecrest Fen, Catskill Mountains ( NY , USA ) From Deglaciation to the Industrial AgeNARA Subscribed
Aim To develop the palaeoecological and palaeoclimatic history of Maplecrest Fen, Greene County, NY. Location Catskill Mountains, New York. Time Period 13,500 calendar years to present (ybp, present = 1950). Taxon Angiosperms, gymnosperms and bryophytes. Methods We used pollen and spore analysis, macrofossil analysis, loss‐on‐ignition (LOI) and X‐ray fluorescence (XRF) analysis of a 7.8 m sediment core from the Fen along with...