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Weiss-Kruszka syndrome (WSKA; OMIM 618619) is a rare autosomal dominant neurodevelopmental disorder caused by haploinsufficiency of ZNF462, a zinc-finger transcription factor involved in chromatin regulation and early embryonic development. WSKA is characterized by developmental delay, hypotonia, craniofacial dysmorphic features (around 8) and variable congenital anomalies. Genome-wide DNAm profiling was performed on periphera...
Sporecasting Biogeography Across Scales: Continental Patterns and Local Constraints on Macrofungal DispersalNARA Subscribed
Understanding how aerial fungal diversity varies across space, habitat, and disturbance is key to linking local‐scale sporocarp (fruiting body) reproduction with continental‐scale biogeography. In this study, we combined passive spore trap metabarcoding with macrofungal sporocarp records from 31 plots in eight sites across North America to quantify how site, habitat, and fire history shape aerial macrofungal communities. From...
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...
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...
Encapsulation of the lipidated TLR7/8 agonist INI-4001 into ionic liposomes impacts H7 influenza antigen-specific immune responsesNARA Subscribed
Toll-like receptors (TLRs) are the best characterized family of Pattern Recognition Receptor-targeting adjuvants. Activation of TLR7/8 in particular, enhances antigen presentation by dendritic cells and macrophages, boosting Th1-mediated adaptive immune responses. However, poor pharmacokinetics and systemic toxicity of some TLR7/8 ligands hinder their clinical translation. Lipidation and incorporation of TLR7/8 ligands into li...
Invasive species in the aquarium trade: survey of attitudes, behaviors, and knowledge among US participantsNARA Subscribed
Although the aquarium trade is an important pathway for direct and indirect non-native species introductions into freshwater systems, knowledge and attitudes of participants in the trade regarding alien species issues is largely undocumented. Therefore, we administered a survey to investigate attitudes and behaviors of aquarists and non-aquarists regarding the aquarium trade as a pathway for invasive species introductions. We...
Patterns of divergence and speciation on islands have long been of interest in the broader study of evolution. Hawaiʻi’s endemic Kamehameha butterfly ( Vanessa tameamea ) is experiencing population decline, but because of its high vagility and assumed genetic homogeneity as a species, its population structure has not been investigated. To evaluate V. tameamea genetic variation across the Hawaiian Islands, we assembled a refere...
Within-farm spatiotemporal variability impacts carrot yield and quality more than preceding cover crop on a Canadian organic farmNARA Subscribed
Carrot ( Daucus carota ) is an important crop grown in Canada and globally. Fresh market carrots have strict cosmetic requirements to command full value at “Grade A” and are frequently downgraded for irregular shape, size, or pest damage. Organic farming presents challenges for nutrient management, soil health and pest control, which may be mitigated with cover cropping. A 3-year field experiment was conducted on a commercial...
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...