R. D. MARTIN results 632
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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...
Marine migration influences mercury accumulation in anadromous Arctic char ( Salvelinus alpinus )NARA Subscribed
Mercury (Hg) is a globally distributed toxic metal present in northern natural environments that biomagnifies in food webs and bioaccumulates in apex predator fish, such as Arctic char ( Salvelinus alpinus )—an iteroparous species with a circumpolar distribution. Arctic char exhibit a variety of life history types, with the migrating, anadromous life‐history type supporting many subsistence and small‐scale commercial fisheries...
Systematic Review and Meta-Analysis of Potato Tuber CrackingNARA Subscribed
Potato ( Solanum tuberosum L.) is one of the most widely produced starchy tuberous crops, and it is currently grown in over 100 countries. However, the productivity and quality of the crop are compromised by tuber cracking. While individual studies on the etiology of cracking have provided valuable insights, the evidence remains fragmented and sometimes contradictory. Therefore, a systematic review was carried out to consolida...
Small pelagic fish (SPF) are critical to the trophodynamic structure and function of marine systems and support some of the most valuable and socially important fisheries worldwide. Their “boom and bust” population dynamics, shifts in distribution, and importance as forage resources for other fish stocks place unique challenges to assessing and managing SPF. In response to these challenges, an international working group was f...
Rapid identification directly from urine using QUICKprep kitNARA Subscribed
Contrasting life‐history strategies of three sympatric icefish species in the northern Scotia SeaNARA Subscribed
Comprehending a species' life‐history strategies is crucial to inform effective conservation efforts. Commercial fishing impacts icefish (family: Channichthyidae) in the Scotia Sea, but detailed information on species‐specific life histories remains largely unknown. In this study, the demographic characteristics of mackerel icefish ( Champsocephalus gunnari ), blackfin icefish ( Chaenocephalus aceratus ) and South Georgia icef...
Brief Communication: Perspectives on Increasing Timber Harvest on National Forest Lands in the Pacific NorthwestNARA Subscribed
This brief communication presents selected findings from recent social and economic monitoring of national forest policies in the Pacific Northwest. Qualitative interviews with timber industry professionals, USDA Forest Service (Forest Service) employees, and rural community members provided local perspectives on increasing the pace and scale of timber harvests on national forests. Challenges noted by interviewees included spa...
Hidden in Plain Sight: Decades of Industrial‐Scale Fishing in the Ocean's Twilight ZoneNARA Subscribed
There is a common misconception among ocean scientists and policy makers that mesopelagic (200–1000 m) food webs are an unexploited “final frontier” of living marine resources. It is true that there are currently no substantial fisheries for the small‐bodied fish species that are typically caught in the nets used in research studies. However, midwater ecosystems contain a rich biodiversity of larger fishes, including mesopreda...
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...
This study integrates thermistor observations, hurricane glider measurements, and model-derived temperatures to examine the oceanic processes influencing Hurricane Laura’s rapid intensification, the role of the preexisting warm mixed layer at Stone Mooring (StM) in modulating cooling of the mixed layer, and the processes governing mixed layer heat evolution during and after storm. Prior to the storm’s passage, StM featured a 3...