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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...
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...
Genetic diversity and dynamics of plum pox virus populations in the alternative host American plumNARA Subscribed
Plum pox virus (PPV) is a serious viral threat to stone fruit trees worldwide. Wild Prunus species including American plum ( Prunus americana ) can serve as sources of inoculum. High-throughput sequencing was used to characterize PPV populations in American plum and peach after aphid inoculation and after two cycles of cold-induced dormancy (CID). A significant decrease in the number of sequence variations in the PPV genome wa...
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...
The Bayesian backtracking problem in oceanic drift modellingNARA Subscribed
A noncanonical route for p -aminobenzoate (pABA) biosynthesis in select bacteria utilizes a novel self-sacrificing heme oxygenase-like domain-containing oxidase/oxygenase (HDO) superfamily member. The recently characterized self-sacrificing pABA synthase from Chlamydia trachomatis (“CADD”) requires manganese and likely employs a heterobimetallic Mn/Fe cofactor. A conserved active site tyrosine residue is cleaved from the prote...
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...
How many people will live in poverty because of climate change? A macro-level projection analysis to 2070NARA Subscribed
Fossil fuel-based economic development both causes climate change and contributes to poverty alleviation, creating tensions across societal efforts to maintain growth, limit climate damage, and improve human development. While many studies explore key aspects of this dilemma, few direct attention to the pathways from climate change through socioeconomic development to the future of poverty. We build on projections of global te...