J. Stone results 223
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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...
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...
Colour change of greenlip abalone, Haliotis Laevigata Donovan, fed dried macroalgae meals in concurrent laboratory and on‐farm trialsNARA Subscribed
In Australia, cultured greenlip abalone ( Haliotis laevigata ) are fed formulated diets that lack macroalgae. This has resulted in a pale lip colour in contrast to the vivid green lip colour of wild abalone. We evaluated the effects of supplementing 15% dried macroalgae meal, using either commercially available macroalgae meal (MSM) or harvested Gracilaria cliftonii, on colour change in greenlip abalone . Abalone were fed the...
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...
Defining an ageing-related pathology, disease or syndrome: International Consensus StatementNARA Subscribed
Around the world, individuals are living longer, but an increased average lifespan does not always equate to an increased health span. With advancing age, the increased prevalence of ageing-related diseases can have a significant impact on health status, functional capacity and quality of life. It is therefore vital to develop comprehensive classification and staging systems for ageing-related pathologies, diseases and syndrom...