Lisa Maria results 236
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The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decadeNARA Subscribed
Exome sequencing (ES) has become a primary tool for diagnosing neurodevelopmental disorders (NDDs), yet the interpretation of genetic variants in large, heterogeneous cohorts presents significant challenges that automated pipelines often fail to resolve. This study showcases the complexities and novel findings derived from a decade-long analysis of 419 Italian NDD patient-parent trios. While ES established a molecular diagnosi...
Effects on mouse melanoma and immune cells of P2X7 receptor positive allosterism by clemastineNARA Subscribed
Clemastine (CLE), an H1R antagonist widely used for the treatment of allergic rhinitis, has recently been investigated for its positive modulatory effects on P2X7, a receptor for extracellular ATP (eATP) involved in the regulation of inflammation, immune responses, and the composition of the tumor microenvironment (TME). Here, we further examined the effects of CLE on P2X7-mediated responses to clarify the pharmacological sign...
This study assessed the effects of 22 years of sustainable ( S mng ) versus conventional ( C mng ) management on cyanobacteria‐enriched microbial communities in a Mediterranean olive orchard. Surface soils were selectively cultivated in nitrogen‐free Bristol medium to obtain cultivable cyanobacteria‐dominated, nitrogen‐fixing assemblages for molecular and metabolomic analyses. Cyanobacteria‐enriched assemblages derived from S...
Modulation of conformational features and oligomerization of MMACHC by cobalamin variants: impact of the R161Q mutation in cblC diseaseNARA Subscribed
Vitamin B12 (cobalamin, Cbl) is a coordination compound of the cobalt, located at the center of a corrin ring composed of four pyrrolic-like groups. The cobalt ion can be bound to a variety of upper axial ligands, which vary among different cobalamin forms, including hydroxocobalamin (OHCbl), cyanocobalamin (CNCbl), methylcobalamin (MeCbl), and adenosylcobalamin (AdoCbl). MeCbl and AdoCbl are considered the biologically active...
The Asia region harbors exceptional chondrichthyan (shark, ray, and chimaera) diversity but faces intense fishing pressure. The Important Shark and Ray Areas (ISRA) process provides a collaborative, evidence-based framework to identify critical habitats and inform spatial management. We assessed ISRAs across the Bay of Bengal, Southeast Asia, and the Northwest Pacific to characterize their extent, ecological significance, and...
Bile Salt Hydrolase Activity in the Food-Derived Strain Levilactobacillus brevis M3R3: Genomic and Functional CharacterizationNARA Subscribed
In the present study, Levilactobacillus brevis M3R3, isolated from traditional Sicilian sourdough, was evaluated for bile salt hydrolase (BSH) activity through kinetic growth assays and bile salts (BSs) deconjugation analysis by UHPLC/HR-MS. Genome sequencing and in silico analyses were performed to assess its safety and probiotic potential. Results showed that strain M3R3 tolerated different concentrations of individual conju...
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...
Peripheral microRNA signature in genetic frontotemporal dementia—findings from the GENFI initiativeNARA Subscribed
Frontotemporal dementia (FTD) is a neurodegenerative disease characterized by significant clinical and genetic heterogeneity, with approximately 40% of cases linked to hereditary genetic mutations, including MAPT , GRN , and C9ORF72 . Recently, microRNAs (miRNAs) have emerged as key regulators of cellular processes related to neurodegeneration and as potential biomarkers for FTD. However, their relevance in presymptomatic stag...
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...
Studies on energy recovery from microalgae and plants wastesNARA Subscribed