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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...
Climatic and Hydrological Changes Drive Contemporary Fire Regime Transitions in the World's Largest WetlandNARA Subscribed
Tropical wetlands have historically been resilient to fire, but ongoing climate and hydrological changes are undermining this stability. Here, we provide robust multi‐decadal evidence (1985–2024) of structural changes in the contemporary fire regime of the Pantanal, the world's largest wetland, associated with hydroclimatic disruption. We investigated changes in burned area, mean fire size, and fire seasonality using hydrologi...
This study aimed to evaluate the exposure of Chelonia mydas (green turtles) inhabiting the south coast of Pernambuco, Northeast Brazil, to essential and toxic elements. Concentrations of Al, Cd, Co, Cr, Cu, Fe, Mn, Mo, Ni, Pb, and Zn were determined in shell, muscle, liver, and kidney samples from 43 individuals using ICP-OES. Element concentrations varied according to tissue type. Specifically, the average concentrations of A...
Multiple Eurasian Origins and Admixture Shaped the Genomic Legacy of the House Mouse Invasion in AfricaNARA Subscribed
Commensal mammals offer unique opportunities to study how human‐mediated dispersal, admixture, and secondary contact shape genomic variation during range expansion, yet for one of the most successful invasive commensals globally, the western house mouse Mus musculus domesticus , invasion dynamics across Africa remain largely unexplored. Here, we present a large‐scale population genomic analysis of 380 whole‐genome sequences, i...
Meta-Analysis and Physiologically-Based Modeling of the Pharmacokinetics and Pharmacodynamics of Dexamethasone in HorsesNARA Subscribed
Purpose Dexamethasone (DEX) is widely used in equine practice for its potent anti-inflammatory effects and diverse studies have examined its pharmacology in horses. We integrated all available pharmacokinetic (PK) and pharmacodynamic (PD) data from 12 studies to quantify DEX disposition and endocrine effects in horses. Methods DEX concentrations in blood, urine and synovial fluid, plus cortisol (CTS) and glucose (GLU) in plasm...
Seafloor massive sulphide (SMS) deposits are potential sources of Cu, Zn, Au and Ag, however, how seafloor weathering affects the content of these metals in the deposits remains poorly understood. Key sulphide weathering products, i.e. Fe-oxyhydroxide and atacamite, can provide insight into metal mobilisation during and after oxidation of sulphides. Ten Fe-oxyhydroxide and three massive sulphide samples from the Semenov hydrot...
Granitic pegmatites are a significant source of critical metals including tin, tantalum, and most notably lithium. To meet future demand, a comprehensive exploration model is required to assist in the discovery of new hard rock deposits. Whereas recent work has largely focused on understanding the source and mineralization processes of pegmatites, the structural controls on the distribution and size of individual deposits rema...
Mountain lakes are highly sensitive to climatic change, yet the extent to which alpine aquatic communities respond to recent warming remains uncertain. We used a palaeolimnological approach based on analysing the remains of non‐biting midge (chironomid) larvae preserved in surface sediments from 24 Swiss mountain lakes to assess species‐environment relationships of chironomids and compare our results to previous, detailed surv...