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Lynch syndrome caused by a pathogenic SINE-VNTR-Alu (SVA) insertion in MSH2 gene identified by long-read DNA sequencingNARA Subscribed
Lynch syndrome, the most common hereditary cancer syndrome, is caused by germline pathogenic variants in DNA mismatch repair (MMR) genes. Identifying complex or structural MMR gene pathogenic variants can be challenging with short-read sequencing resulting in patients with unexplained MMR-deficient tumours. In this study, we report multiple members of a family who developed MSH2-deficient tumours where clinical multi-gene pane...
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...
Alzheimer’s disease (AD) disproportionately affects women and carriers of the apolipoprotein E ε4 allele (APOE4), yet little is known about how sex and APOE interact to influence white matter (WM) integrity during disease progression. We integrated diffusion MRI and matched blood transcriptomic data to investigate these interactions and their underlying biological mechanisms. WM microstructure was quantified using diffusion te...
Evaluation of native macroalgae species of the Southeast U.S. and Caribbean for use in integrated multi-trophic aquaculture (IMTA)NARA Subscribed
This study assessed the comparative performance of candidate marine macroalgae species under integrated multi-trophic aquaculture (IMTA) culture conditions in a system culturing yellowtail snapper ( Ocyurus chrysurus ) at a commercial-scale biomass density. The nutrient-rich effluent water from the marine finfish culture tank supplied replicated macroalgae raceways containing four candidate species of macroalgae ( Agardhiella...
The Toxicology Investigators Consortium 2024 Annual ReportNARA Subscribed
Urban earthworm communities driven more by climate and elevation than urbanisation intensityNARA Subscribed
Soil biodiversity, particularly earthworms, plays a crucial role in ecosystem functions and services but remains largely understudied in urban environments. In this context, we conducted a synthesis analysis of 41 studies from urban environments (726 records, 1995–2024) to (1) describe patterns of earthworm communities, (2) identify the main drivers shaping urban earthworm communities, focusing on the effects of climate, degre...
Background and aims Previously, triple super phosphate (TSP) application to one soil type was unexpectedly found to cause with soil drying an initiation of linear decrease in maize transpiration rate at an unusually high soil water content. The resulting overall slower soil water extraction resulted in crop drought resilience. A key issue is whether the response occurs with drying of other soils. The objective of this study wa...
Genetic variation that impacts gene regulation, rather than protein function, can have strong effects on trait variation both within and between species. Epigenetic mechanisms, such as DNA methylation, are often an important intermediate link between genotype and phenotype, yet genetic effects on DNA methylation remain understudied in natural populations. To address this gap, we used reduced representation bisulfite sequencing...