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...

This study explored the relationship between serum cadmium (Cd), smoking exposure, and migraine in the ELSA-Brasil cohort (2008–2010). The analysis included 2,750 participants whose serum Cd levels were measured using inductively coupled plasma mass spectrometry. Smoking exposure was assessed using self-report data of active smoking and second-hand smoke. Migraine, including definite and probable migraine, was diagnosed accord...

Globodera pallida , a quarantine potato cyst nematode (PCN), has had a significant economic impact on the Idaho potato industry. Developing resistant commercial varieties has been challenging because the predominant russet potato market class lacks resistance to G. pallida , and no single major resistance gene has been identified. This study characterized the phenotypic resistance to the Idaho G. pallida pathotype Pa2/3 popula...

Arctic freshwater biodiversity is rapidly changing due to climate warming, resource extraction, infrastructure development, and landscape transformation. To improve understanding, predict future responses, and inform policy formulation, research needs must be clearly identified. Using a horizon scan survey, Arctic freshwater experts from government, international agencies, and Indigenous Peoples identified 77 biodiversity rese...

Aim Dramatic Quaternary climate fluctuations impacted the evolutionary history and contemporary biogeography of many residents of the Great Basin Desert of western North America. This study investigates the historical biogeographic processes that shaped the contemporary distribution of genetic variation in a polytypic group of specialized butterflies that are residents of unique dune and playa habitats. Many of the subspecies...

Leptospira interrogans serovar Pomona infections cause periodic outbreaks in California sea lions (CSLs; Zalophus californianus ) and sporadic deaths in phocids. However, the frequency of infection and associated health impacts remain uncharacterized in sympatric threatened southern sea otters (SSOs; Enhydra lutris nereis ), which serve as important sentinels of coastal health. Given the broad impacts of L. interrogans on othe...