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Identification of a novel isoform of Slc26a4 by single-cell RNA-sequencing of pendrin-expressing cells in the cochleaNARA Subscribed
Pathogenic variation of SLC26A 4 gene causes both Pendred syndrome (PDS) and non-syndromic enlarged vestibular aqueduct (NSEVA/DFNB4), two autosomal recessive disorders. The former accounts for approximately 6% of human genetic hearing loss, making it the second most common form of syndromic deafness after Usher syndrome, while the latter is the most common radiological malformation associated with childhood sensorineural hear...
Deviations from additivity in APOE4-mediated late-onset Alzheimer’s disease risk across races and ethnicitiesNARA Subscribed
APOE ’s ε4 haplotype ( APOE4 ) is late onset Alzheimer’s disease’s (LOAD) strongest genetic risk factor. Therefore, accurately modeling APOE4 ’s effect is critical to understanding LOAD. This is especially important as APOE4 odds ratios (OR) vary across racial and ethnic (R/E) groups. We analyzed the APOE4 -LOAD association in 3,196 East Asian, 31,105 non-Hispanic White (White), 1,646 Hispanic and Latino (Hispanic), and 6,068...
Environmental Drivers of Recruitment Variability in Narrow‐Barred Spanish Mackerel Scomberomorus commerson Lacépède, 1800NARA Subscribed
Understanding the effects of environmental conditions on fisheries resources is crucial for guiding the effective assessment and management of fish stocks. Previously assessed as depleted, the narrow‐barred Spanish mackerel fishery on the east coast of Queensland, Australia, is under management intervention to rebuild the stock. In this study, we use long‐term age composition data to reconstruct 24 years of historic year class...
Promoting Research Excellence in Down Syndrome: Proceedings of the 5th International Conference of the Trisomy 21 Research SocietyNARA Subscribed
Down syndrome (DS), or trisomy 21 (T21), represents the most common genetic cause of intellectual disability worldwide and is associated with a wide range of medical, developmental, and neurodegenerative conditions, including a universal predisposition to early-onset Alzheimer’s disease (AD). Since its establishment in 2014, the Trisomy 21 Research Society (T21RS) has provided a global forum for advancing DS research across di...
Real-time Image-guided Radiotherapy (IGRT) technologies aim to track intra-fractional tumour motion during delivery of high radiation doses to tumours. For the development and safe implementation of real-time IGRT technologies into the clinic, there is a need for robust and repeatable quality assurance (QA) devices. Motivated by this need, this work presents the development and characterisation of a novel time-synchronised mot...
Moose ( Alces alces ) are an iconic symbol of contemporary Rocky Mountain ecosystems, and their growing abundance in Colorado and other portions of the Southern Rockies has inspired debate around their regional prehistory prior to their 20th century translocation. The Early Holocene biogeography of moose in North America is poorly characterised, due in part to their life history and logistical obstacles to their archaeozoologi...
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...
The Comprehensive Assessment of Long-term Effects of Reducing Intake of Energy (CALERIE)™ trial was a randomized, 2-year controlled trial of caloric restriction (CR) versus an ad libitum (AL) control condition in nonobese humans. We performed exploratory analyses of muscle mitochondrial DNA (mtDNA) integrity, one element of mitochondrial quality. Our aims were to assess the feasibility of this approach, explore associations to...
Quantifying animal movements is necessary for answering a wide array of research questions in ecology and conservation biology. Consequently, ecologists have made considerable efforts to identify the best way to estimate an animal's home range, and many methods of estimating home ranges have arisen over the past half a century. Most of these methods fall into two distinct categories of estimators that have only recently been d...
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...
A horizon scan of biological conservation issues for 2026NARA Subscribed
The Toxicology Investigators Consortium 2024 Annual ReportNARA Subscribed
Annually, over 92 million metric tonnes (Mt) of textile waste are produced globally, with 17 Mt discarded in the US alone. Textile waste is typically comprised of approximately 50% biomass-derived cellulosic fiber and 50% fossil carbon-derived synthetic fiber, with the biogenic portion representing a global CO 2 removal capacity estimated at 75 Mt CO 2 (14 Mt CO 2 in the US alone). Bioenergy with carbon capture and storage (BE...