C. Brandon results 191
· Newest (Page 1/8, per page 25)
Author: C. Brandon ×Clear All Filters
Search Results
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...
The decisions and conditions of animals often carry over to influence fitness in subsequent seasons or years. The condition, choices, and behaviors of parents may have a huge influence on offspring survival, not only when they are nutritionally dependent (i.e., pre-weaning or pre-fledgling), but also after they have reached independence but before adulthood (i.e., post-weaning or post-fledgling). Using a long-lived, iteroparou...
Whole genome resequencing data provide high-resolution conservation insights into population structure and life historyNARA Subscribed
Whole genome resequencing can be a powerful tool for uncovering biological insights and quantifying population genomic metrics relevant to conservation. These insights have the potential to be most profound in secretive or elusive species that are understudied but whose populations may be waning. The western chicken turtle ( Deirochelys reticularia miaria ) is one such example where conservationists are concerned about reporte...
Understanding how temperature‐sensitive organisms respond to environmental change is central to addressing challenges in public health, biodiversity conservation and food security. For many ectotherms, abiotic and biotic factors shape their abundance and distribution by generating stage‐specific variation in life history traits. Although previous studies have examined temperature, rainfall, competition and habitat quality in r...
Introduction Estimating the genetic diversity of cetaceans at sea, particularly abundant social delphinids, can be difficult with traditional biopsy sampling of individuals. Environmental DNA (eDNA) metabarcoding has been shown to be a powerful tool for the identification of species assemblages and estimation of genetic diversity, especially in aquatic environments. Methods We collected 126 samples of seawater from within the...
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...
SNAPSHOT USA 2024: Year 6 of the Coordinated National Camera Trap Survey of the United StatesNARA Subscribed
Motivation SNAPSHOT USA is an annual, multi‐contributor camera trap survey of mammals across the United States. The growing SNAPSHOT USA dataset is intended for tracking the spatial and temporal responses of mammal populations to changes in land use, land cover and climate. These data will be useful for exploring the drivers of spatial and temporal changes in relative abundance and distribution, as well as the impacts of speci...
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...
Beyond strength: dietary nitrate augments self-selected functional mobility after resistance training in middle-aged adultsNARA Subscribed
This study aimed to assess whether dietary nitrate supplementation with resistance training (RT) augments gait performance and functional mobility in inactive middle-aged and older adults. We hypothesized that combining nitrate-rich beetroot juice (BRJ) with RT would yield improvements in gait and functional mobility compared to RT with nitrate-depleted beetroot juice placebo (PLA) supplementation. In this 12-week, randomized,...
Measurement Error and Methodologic Issues in Analyses of the Proportion of Variance Explained in CognitionNARA Subscribed
Existing studies examining the predictive ability of biomarkers for cognitive outcomes do not account for variance due to measurement error, which could lead to under-estimates of the proportion of variance explained. We used data from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) ( N = 1084) to estimate the proportion of variance explained by Alzheimer’s disease (AD) imaging biomarkers in four cognitive outcomes: mem...
Cold storage of alarm substance reduces the behavioural stress response of zebrafish ( Danio rerio )NARA Subscribed
Alarm substance (AS) is widely used in zebrafish ( Danio rerio , Hamilton, 1822) antipredator research to elicit an alarm reaction. This alarm reaction consists of stereotypical behaviours, including freezing, erratic swimming and a tendency to dwell at the bottom of the tank (geotaxis). Because the active compound in AS is known to degrade rapidly, many investigators choose to freeze AS until use, whereas others argue for col...
Verbal fluency dual-tasks show greater age-related cognitive-motor interference: a meta-analysis of walking performanceNARA Subscribed
A substantial body of literature has examined gait during cognitive dual-tasking in younger and older adults. However, it remains unclear how, and to what extent, different cognitive tasks uniquely influence gait. This meta-analysis quantified age-related differences in gait speed during dual-task walking. Importantly, we examined cognitive task as a potential moderator. We searched Web of Science for studies comparing young a...