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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...
Predictability of numerical models for reciprocal structuresNARA Subscribed
Designing perennial crop-based agroforestry systems: specificities, challenges, and opportunitiesNARA Subscribed
Diversification of farming systems at plot scale is increasingly seen as an essential option to meet agriculture sustainability challenges and support agroecological transition. Significant progress has been made in recent years on methods for designing diversified cropping systems based on annual crops. However, few methods have been tested for designing diversified cropping systems based on perennial crops, and in particular...
Contrasting vulnerability profiles for insular assemblages of birds and mammals facing global changeNARA Subscribed
Island biota is currently threatened by global anthropogenic pressures. The limited ability of island species to track suitable conditions and their inherent sensitivity to anthropogenic changes make insular biota highly vulnerable to global threats. Although vulnerability assessments of species to single threats individually have been conducted, the vulnerability of island faunas to multiple global change drivers has not. We...
The vast majority of studies examining the impact of freshwater from ice sheet melting on the Atlantic Meridional Overturning Circulation (AMOC) use climate models that cannot resolve mesoscale ocean processes and do not include an accurate spatio-temporal distribution of the freshwater forcing. These two factors critically affect the nature of the AMOC response. Our study partially fills that gap with a set of three hosing ex...
Studying habitat use of cetaceans that spend most of their lives underwater poses challenges, prompting the use of complementary methods. Non‐invasive methods, land‐based surveys (LBS) and passive acoustic monitoring (PAM), were used to characterize occurrence patterns of beluga whales, harbor porpoises, and vessels in the Saguenay–St. Lawrence Marine Park. Between 2020 and 2023, LBS totaled 512 h, while PAM recorded 1591 h in...
Escherichia coli ( E. coli ) ST131 is a multidrug-resistant pandemic clone of extended-spectrum beta-lactamase-producing bacteria, with the primary reservoir within the gut. A biotherapeutic strategy to limit the intestinal carriage of ST131 E. coli isolates has been developed using a modified version of the probiotic E. coli strain Nissle 1917 (EcN 2.0) that does not exhibit genotoxic activity and overexpresses microcins. 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...