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...

Vascular remodeling within the developing fetus and placenta is essential for supporting the growth and function of emerging tissues and organs. Pericytes (PCs) play a central role in stabilizing and maturing microvascular networks by extending along endothelial cells (ECs) and reinforcing vessel integrity. In the placenta, as in other organs, PC–EC communication is mediated in part by platelet-derived growth factor-BB (PDGF‑B...

Output from dynamically downscaled, convection‐permitting regional climate simulations is used to examine projected changes in the frequency, timing and spatial distribution of synthetic severe convective storm (SCS) detections based on peril proxies across three 15‐year epochs—1990–2005, 2040–2055 and 2085–2100—under intermediate and pessimistic emissions scenarios, including the first mid‐century projections of SCS activity,...

Dryland ecosystems cover 41% of Earth's land surfaces, account for 44% of cultivated lands and 60% of food sources, and make large contributions to the global water and carbon cycles. However, these ecosystems are experiencing unprecedented extremes including heatwaves, floods, and droughts as well as hotter temperatures and often declining water resource availability. These ecosystems are some of the most challenging to monit...

For generalist animals that have a broad range of food choices, the specific diet characteristics that are important for health and fitness are often unclear. Here, we examine whether individual variation in diet composition predicts nestling mass and fledge success, and we identify potential drivers of variation in diet composition, in a declining generalist aerial insectivore, the tree swallow ( Tachycineta bicolor ). We col...

Climate change is altering the intensity, frequency, and characteristics of tropical cyclones, amplifying risks to educational infrastructure across the U.S. Gulf and Eastern coasts. Schools are increasingly vulnerable to Prolonged Unplanned School Closures (PUSCs), defined as unexpected shutdowns lasting seven or more instructional days. While previous research has examined localized school disruptions, few studies have linke...

There is a ubiquitous co-occurrence of microplastics (MPs) and estrogenic endocrine disrupting chemicals (EEDCs) in aquatic environments. Their combined presence may induce sub-lethal stress in aquatic organisms, like molluscs, which may adapt to the stress through adjusting the lipidome. This study explored the individual and combined effects of polyethylene microplastics (PE-MPs) and a mixture of EEDCs at environmentally rea...