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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...
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...
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...
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...
Using Community Composition and Successional Theory to Guide Site‐Specific Coral Reef ManagementNARA Subscribed
High spatial or temporal variability in community composition makes it challenging for natural resource managers to predict ecosystem trajectories at scales relevant to management. This is commonly the case in nearshore marine environments, where the frequency and intensity of disturbance events vary at the sub‐kilometer to meter scale, creating a patchwork of successional stages within a single ecosystem. The successional sta...
An evidence-based approach to the conservation management of a species requires knowledge of that species’ status, distribution, ecology, and threats. Coupled with budgets for specific conservation strategies, this knowledge allows prioritisation of funding toward activities that maximise benefit for the species. However, many threatened species are poorly known, and determining which conservation strategies will achieve this...