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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...
A framework for identifying paper parksNARA Subscribed
Sensitivity analysis of modeled soil water dynamics within variable rate irrigation zones for winter wheatNARA Subscribed
Understanding within-field and season variability of soil water supply and crop water stress is critical for successful variable-rate irrigation (VRI) management. The objectives of this study were to (1) assess within-field variability of field capacity (FC), wilting point (WP), total available water (TAW), and initial soil volumetric water content (VWC init ); (2) validate a water balance model based on the American Society o...
Understanding the impacts of different threats on species is key to successful conservation interventions and policies. The International Union for Conservation of Nature (IUCN) assesses threats to species, and the organization's Red List of Threatened Species is a key conservation tool. We quantified the degree to which threats in IUCN assessments for 3 vertebrate groups (birds, amphibians, and ray‐finned fishes) were based o...
The Atlantic meridional overturning circulation (AMOC) is expected to decline dramatically over the 21st century, with severe impacts for Northern Hemisphere climate. After 20 years of sustained monitoring in the subtropics, a detectable AMOC weakening trend is now beginning to emerge. However, continuous observations at subpolar latitudes are currently too short-lived to determine any weakening signal above the large-amplitud...
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...
Genomic Signatures of Microgeographic Adaptation in Anopheles coluzzii Across Urban, Rural, and Forested Environments in GabonNARA Subscribed
Species distributed across heterogeneous environments often evolve locally adapted populations, but understanding how these persist in the presence of homogenizing gene flow remains puzzling. In Gabon, Anopheles coluzzii, a major African malaria mosquito, is found in various ecological settings, including urban areas, remote rural villages, and forested environments away from any human presence. This study investigates the gen...
Success of restoration strategies in preventing extirpation of 2 critically endangered coral speciesNARA Subscribed
An unprecedented marine heatwave in 2023 caused widespread coral bleaching and mortality throughout the Caribbean. In the Florida Keys (USA), 2 foundation species, elkhorn coral ( Acropora palmata ) and staghorn coral ( Acropora cervicornis ), were severely affected. These species have been the primary focus of reef restoration in Florida for decades. Substantial losses of these species occurred in outplanted populations, in o...
Hereditary gynecological cancer management in women with Lynch syndrome: a survey across EuropeNARA Subscribed
We aim to compare clinical practices in the gynecological management of women with Lynch syndrome across Europe and assess the need for multidisciplinary gynecological care for this high-risk population. European gynecologists involved in the clinical care of women with Lynch syndrome were invited to complete a cross-sectional survey regarding their clinical practices and organization of care. All participating gynecologists w...