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RPGRorf15 nanopore long-read sequencing improves retinitis pigmentosa molecular diagnosis for men and womenNARA Subscribed
RPGR (Retinitis Pigmentosa GTPase Regulator ) is the main gene involved in X-linked retinitis pigmentosa (RP) and up to 28% of sporadic RP. Pathogenic variants are mostly located in its retina-specific transcript, RPGRorf15 , especially in the terminal exon named open reading frame 15 (ORF15) , which is a highly repeated region. Because of this complex sequence, first- and second-generation short-read sequencing are difficult,...
Abandoned mine tailings, rich in potentially toxic elements (PTEs), can be redistributed in urban areas through atmospheric resuspension. This process serves as a dynamic geochemical compartment linking legacy contamination to human exposure. This study investigated the occurrence, oral bioaccessibility, ecological significance, and human health risks of PTEs in urban dust from Boquira, a former Pb–Zn mining district in northe...
Differences in diet have implications for potential ecosystem roles of two key rocky reef fishNARA Subscribed
The influence of fishes on temperate rocky reef ecosystems is globally recognised, particularly where large predators may structure ecosystems through predation. In South-East Australia, the common Wrasse Achoerodus viridis (Blue Groper) and Sparid Chrysophrys auratus (Snapper) are sympatric rocky reef predators. While their diets are thought to be well understood, this is generally based on gut contents undertaken over limite...
Urchin diets are a topic of global interest due to their impacts on subtidal reefs. Urchins can consume large amounts of macroalgae, leading to the loss of macroalgal forests and creation of “barrens”. However, there is scant dietary information in the southern hemisphere for the temperate sea urchin, Centrostephanus rodgersii , and what they consume within barrens, which lack macroalgae. Here, we sampled C. rodgersii to quant...
A Novel Polyphosphate‐Degrading Enzyme Confers Growth on Exogenous Polyphosphate in the Archaeon Haloferax volcaniiNARA Subscribed
Polyphosphate (polyP) is an inorganic biopolymer of orthophosphate (Pi) that plays roles in many central biochemical processes in microorganisms, including acting as a cellular reservoir of phosphorus. The microbial metabolism of polyP is considered limited to its intracellular cycling by kinases and exopolyphosphatases. However, little is known about polyP metabolism in the Archaea. Notably, many haloarchaea, including Halofe...
Historical vertebrate herbivory drives ontogenetic shifts in plant defense across oceanic islandsNARA Subscribed
Islands with contrasting herbivore histories provide a natural framework to investigate the evolution of plant defenses. Theory predicts that on islands with historically intense vertebrate herbivory, juveniles maintain strong defenses while adults may reduce them once out of reach, whereas islands lacking vertebrate browsers show minimal ontogenetic differences and generally lower defenses. Alternatively, when extinct herbivo...
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...
From shape to source: sedimentary charcoal morphology as a proxy for tropical burned biomass compositionNARA Subscribed
Sedimentary charcoal elongation is increasingly being used in paleoecology to distinguish herbaceous from woody fuel in past fires. However, the relationship between charcoal morphotypes and plant types has never been formally tested in tropical environments, despite its potential to improve understanding of fire regimes and deforestation, and to analyze long‐term ecosystem resilience. Separation between herbaceous and woody c...
Stable isotope analysis reveals resource use by rays in an Australian temperate estuaryNARA Subscribed
Estuarine ecosystems are increasingly threatened by anthropogenic activities that deplete or replace natural habitats. This may lead to cascading effects in estuarine food webs as the availability of primary producers changes. Rays are ecosystem engineers that feed in sedimentary environments, yet their main prey items and the primary producers supporting their nutrition are unknown. The aim of this study was to assess resourc...
Extreme Droughts Push Heterotrophic Functions Above Baseline Levels in a Neotropical EcosystemNARA Subscribed
Droughts are intensifying in the humid Neotropics, raising concerns about the impacts on ecosystem processes related to C cycling, such as decomposition and CO 2 respiration. In particular, the resilience of multiple functions to extreme droughts in Neotropical aquatic systems remains poorly understood, limiting our ability to predict drought‐driven feedbacks on C cycling. Here, we used rain shelters placed above tank bromelia...
Under the current global biodiversity crisis, there is a need for automated and noninvasive monitoring techniques that can gather large amounts of data cost‐effectively at various ecological scales, from local to large spatial scales. These data can then be analyzed to inform stakeholders and decision‐makers. One such technique is passive acoustic monitoring, which is commonly coupled with automatic identification of animal sp...
There is an urgent need for improved monitoring approaches to rapidly and accurately assess sea cucumber populations at ecologically relevant scales. Timely surveys are critical for informing effective fisheries management and decision-making. Traditional surveys, undertaken via snorkelling, manta tows, or SCUBA, are limited to shallow and accessible areas; however, sea cucumbers inhabit a broad range of depths, including area...