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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...
Over‐Representation of Sperm‐Associated Deleterious Mutations Across Wild and Ex Situ Cheetah ( Acinonyx jubatus ) PopulationsNARA Subscribed
As purifying selection becomes less effective and inbreeding increases, small populations frequently develop an increased load of genome‐wide deleterious mutations. Reflecting this pattern, deleterious mutations in genes associated with fertility and immunity have previously been identified in the cheetah ( Acinonyx jubatus ), which has had a low effective population size for at least the last 10,000 years. However, the distri...
Interventions addressing cognitive impairments after traumatic brain injury (TBI) often rely on survivors’ relatively preserved capacity to learn, initiate, and consistently use rehabilitation strategies, along with the ability to apply strategies in various contexts. The cognitive functions required for such active engagement in rehabilitation are commonly impaired after TBI, consequently limiting the benefits of many existin...
A Model for Clinician and Staff Education in the Engagement of American Indians in Genomic ResearchNARA Subscribed
Despite notable differences in cancer incidence and outcomes, fewer American Indians have participated in cancer research and genomic testing relative to their population size. Contributing factors include historical scientific mistrust, lack of culturally appropriate research methodologies, and limited access. With the launch of a cancer genomic sequencing trial in American Indians from the Southwestern United States (US), cl...
Linking soil nematode community structure with pomegranate root phytochemicals in Limpopo Province, South AfricaNARA Subscribed
This study examined the diversity, functional structure, and ecological relationships of nematode communities associated with the rhizosphere of pomegranate ( Punica granatum L.) in Limpopo Province, South Africa, with particular focus on their interaction with soil physicochemical properties and root phytochemicals. A total of 20 nematode genera were identified, representing five feeding guilds: herbivorous, bacterivorous, fu...
The Asia region harbors exceptional chondrichthyan (shark, ray, and chimaera) diversity but faces intense fishing pressure. The Important Shark and Ray Areas (ISRA) process provides a collaborative, evidence-based framework to identify critical habitats and inform spatial management. We assessed ISRAs across the Bay of Bengal, Southeast Asia, and the Northwest Pacific to characterize their extent, ecological significance, and...
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...
SNAPSHOT USA 2024: Year 6 of the Coordinated National Camera Trap Survey of the United StatesNARA Subscribed
Motivation SNAPSHOT USA is an annual, multi‐contributor camera trap survey of mammals across the United States. The growing SNAPSHOT USA dataset is intended for tracking the spatial and temporal responses of mammal populations to changes in land use, land cover and climate. These data will be useful for exploring the drivers of spatial and temporal changes in relative abundance and distribution, as well as the impacts of speci...
Horizon scans identify potential changes, enabling proactive rather than reactive conservation strategies. Here, in a follow up to the 2020 horizon scan, 14 biodiversity professionals from different sectors identify ten emerging issues potentially relevant to biodiversity conservation in South Africa over the next 5–10 years. The issues identified highlight three critical needs: adaptive governance systems, cross-sectoral coll...
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...