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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...
Single target acuity (STA) is a key measure for understanding visual object perception in harbor seals. While STA was already determined with stationary and moving compact single targets of different contrasts in air, we herein assessed underwater STA with the same stimuli as used for aerial testing for comparison. A two-alternative-forced-choice task was conducted with two trained harbor seals under controlled light and turbi...
Freshwater biodiversity in a rapidly changing Arctic: An expert horizon scan of key research questionsNARA Subscribed
Arctic freshwater biodiversity is rapidly changing due to climate warming, resource extraction, infrastructure development, and landscape transformation. To improve understanding, predict future responses, and inform policy formulation, research needs must be clearly identified. Using a horizon scan survey, Arctic freshwater experts from government, international agencies, and Indigenous Peoples identified 77 biodiversity rese...
Climate‐driven alterations in sea‐ice dynamics and shifting fishing activity are reshaping ecosystems across the Arctic and Antarctic, yet conservation‐relevant information for chondrichthyans (sharks, rays, and chimaeras) remains limited. We present the first assessment of Important Shark and Ray Areas (ISRAs) across Polar Waters, integrating species distributions, extinction risk, critical habitat evidence, spatial protectio...
Killer Whales in the Central Tropical Pacific: Occurrence, Resightings, Morphology, and AcousticsNARA Subscribed
Compared to their well‐studied coastal temperate counterparts, killer whales ( Orcinus orca ) in tropical‐subtropical and oceanic areas are under‐documented. We used sighting, photo‐identification, and acoustic data of killer whales in the central tropical Pacific (CTP), collected from multiple platforms between 2002 and 2023, to assess their temporal and spatial distribution, group dynamics and behavior, movements, pigmentati...
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...
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...
Quantification and visualization of 3D facial aging in individuals of European ancestryNARA Subscribed
Facial features undergo continuous transformations across the lifespan. This study quantified and visualized the effects of aging on facial morphology in individuals of European ancestry. Three-dimensional facial photographs of 4,038 individuals (1,455 males and 2,583 females), aged 5 to 85 years and of European descent, were analyzed. Morphological changes in the face were modeled using kernel linear regression, with a focus...