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MT-ATP6 9035T>C Variant Causes Ataxia With Azoospermia and Apparent Anticipation in a Four-generation KindredNARA Subscribed
Background The hereditary cerebellar ataxias are a clinically and genetically heterogeneous group of disorders characterized by progressive cerebellar degeneration leading to incoordination of gait, speech, limb, and eye movements. Hundreds of genes encoding diverse proteins underlie this family of degenerative disorders that may exhibit autosomal dominant, recessive, mitochondrial, or X-linked inheritance. Variations in clini...
Light buckets and laser beams: mechanisms and applications of photobiomodulation (PBM) therapyNARA Subscribed
Photobiomodulation (PBM) therapy, a non-thermal light therapy using nonionizing light sources, has shown therapeutic potential across diverse biological processes, including aging and age-associated diseases. In 2023, scientists from the National Institute on Aging (NIA) Intramural and Extramural programs convened a workshop on the topic of PBM to discuss various proposed mechanisms of PBM action, including the stimulation of...
The planned relocation of communities away from areas of climate-related risk has emerged as a critical strategy to adapt to the impacts of climate change. Empirical examples from around the world show, however, that such relocations often lead to poor outcomes for affected communities. To address this challenge, and contribute to developing guidelines for just and sustainable relocation processes, this paper calls attention t...
Non-Invasive, Continuous, Quantitative Detection of Solvent Content in Vacuum Tray DryingNARA Subscribed
A non-invasive capacitance instrument was embedded in the base of a vacuum-drying tray to monitor continuously the residual amount of solvent left in a pharmaceutical powder. Proof of concept was validated with Microcrystalline Cellulose laced with water, as well as water/acetone mixtures absorbed in a spray-dried Copovidone powder. To illustrate the role of impermeability of the base, we derive a model of vapor sorption that...
Aim After environmental disasters, species with large population losses may need urgent protection to prevent extinction and support recovery. Following the 2019–2020 Australian megafires, we estimated population losses and recovery in fire‐affected fauna, to inform conservation status assessments and management. Location Temperate and subtropical Australia. Time period 2019–2030 and beyond. Major taxa Australian terrestrial a...
Data capturing multiple axes of tree size and shape, such as a tree's stem diameter, height and crown size, underpin a wide range of ecological research—from developing and testing theory on forest structure and dynamics, to estimating forest carbon stocks and their uncertainties, and integrating remote sensing imagery into forest monitoring programmes. However, these data can be surprisingly hard to come by, particularly for...
Ice seals as sentinels for algal toxin presence in the Pacific Arctic and subarctic marine ecosystemsNARA Subscribed
Domoic acid (DA) and saxitoxin (STX)‐producing algae are present in Alaskan seas, presenting exposure risks to marine mammals that may be increasing due to climate change. To investigate potential increases in exposure risks to four pagophilic ice seal species ( Erignathus barbatus , bearded seals; Pusa hispida , ringed seals; Phoca largha , spotted seals; and Histriophoca fasciata , ribbon seals), this study analyzed samples...
Cystic fibrosis improves COVID-19 survival and provides clues for treatment of SARS-CoV-2NARA Subscribed
Systemic pools of ATP are elevated in individuals homozygous for cystic fibrosis (CF) as evidenced by elevated blood and plasma ATP levels. This elevated ATP level seems to provide benefit in the presence of advanced solid tumors (Abraham et al., Nature Medicine 2(5):593–596, 1996). We published in this journal a paper showing that IV ATP can elevate the depleted ATP pools of advanced cancer patients up to levels found in CF p...
NET-VISA from Cradle to Adulthood. A Machine-Learning Tool for Seismo-Acoustic Automatic AssociationNARA Subscribed
A research concept that was first presented on a poster at a Comprehensive Nuclear-Test-Ban Treaty (CTBT) conference in 2009 has resulted in a fully-fledged operational software product named NET-VISA (Network Processing Vertically Integrated Seismic Analysis), which performs the Network Processing step of the automatic processing at the International Data Centre (IDC). It has become one of the tools of the waveform analysts t...
Pantropical variability in tree crown allometryNARA Subscribed
Aim Tree crowns determine light interception, carbon and water exchange. Thus, understanding the factors causing tree crown allometry to vary at the tree and stand level matters greatly for the development of future vegetation modelling and for the calibration of remote sensing products. Nevertheless, we know little about large‐scale variation and determinants in tropical tree crown allometry. In this study, we explored the co...
Small global positioning system (GPS) trackers are now routinely used to study the movement and behaviour of birds at sea. If the birds rest on the water they become “drifters of opportunity” and can be used to give information about surface currents. In this paper, we use a small data set from satellite-tracked razorbills (Alca torda) in the Irish Sea to test the potential of this idea for measuring tidal currents. Razorbills...
The temporal behavior of seabed light in a shallow, tidal sea is set largely by the interaction of the solar elevation cycle with tidal cycles in water depth and temporal variability in water clarity. The effect of tidal modulation on seabed light often does not simply average out, producing instead a net effect (either an amplification or a reduction of seabed light, integrated over time) compared to a tideless, but otherwise...