10,723 Result(s)
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Open AccessHow the brain can be trained to achieve an intermittent control strategy for stabilizing quiet stance by means of reinforcement learning
The stabilization of human quiet stance is achieved by a combination of the intrinsic elastic properties of ankle muscles and an active closed-loop activation of the ankle muscles, driven by the delayed feedba...
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Characteristics of the Structural Connectivity in Patients with Brain Injury and Chronic Health Symptoms: A Pilot Study
Diffusion properties from diffusion tensor imaging (DTI) are exquisitely sensitive to white matter abnormalities incurred during traumatic brain injury (TBI), especially for those patients with chronic post-TB...
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Open AccessGenetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery
One of the major hurdles in clinical genetics is interpreting the clinical consequences associated with germline missense variants in humans. Recent significant advances have leveraged natural variation observ...
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Open AccessPharmacogenetics in Italy: current landscape and future prospects
Pharmacogenetics investigates sequence of genes that affect drug response, enabling personalized medication. This approach reduces drug-induced adverse reactions and improves clinical effectiveness, making it ...
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Open AccessLateral root enriched Massilia associated with plant flowering in maize
Beneficial associations between plants and soil microorganisms are critical for crop fitness and resilience. However, it remains obscure how microorganisms are assembled across different root compartments and ...
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Open AccessClinical and genomic features of Mycobacterium avium complex: a multi-national European study
The Mycobacterium avium complex (MAC) comprises the most frequent non-tuberculous mycobacteria (NTM) in Central Europe and currently includes twelve species. M. avium (MAV), M. intracellulare subsp. intracellular...
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Open AccessExome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations
Congenital myopathies are severe genetic diseases with a strong impact on patient autonomy and often on survival. A large number of patients do not have a genetic diagnosis, precluding genetic counseling and a...
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Open AccessAn investigation of the molecular characterization of the tripartite motif (TRIM) family and primary validation of TRIM31 in gastric cancer
Most TRIM family members characterized by the E3-ubiquitin ligases, participate in ubiquitination and tumorigenesis. While there is a dearth of a comprehensive investigation for the entire family in gastric ca...
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Open AccessClassifying Neuronal Cell Types Based on Shared Electrophysiological Information from Humans and Mice
The brain is an intricate system that controls a variety of functions. It consists of a vast number of cells that exhibit diverse characteristics. To understand brain function in health and disease, it is cruc...
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Open AccessGenerative Modelling of Cortical Receptor Distributions from Cytoarchitectonic Images in the Macaque Brain
Neurotransmitter receptor densities are relevant for understanding the molecular architecture of brain regions. Quantitative in vitro receptor autoradiography, has been introduced to map neurotransmitter recep...
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Open AccessCultivation of novel Atribacterota from oil well provides new insight into their diversity, ecology, and evolution in anoxic, carbon-rich environments
The Atribacterota are widely distributed in the subsurface biosphere. Recently, the first Atribacterota isolate was described and the number of Atribacterota genome sequences retrieved from environmental samples ...
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Open AccessFecal microbiota transplantation alters gut phage communities in a clinical trial for obesity
Fecal microbiota transplantation (FMT) is a therapeutic intervention used to treat diseases associated with the gut microbiome. In the human gut microbiome, phages have been implicated in influencing human hea...
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Open AccessEquity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International
Rare diseases are recognized as a global public health priority. A timely and accurate diagnosis is a critical enabler for precise and personalized health care. However, barriers to rare disease diagnoses are ...
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Open AccessMetatranscriptomics-guided genome-scale metabolic reconstruction reveals the carbon flux and trophic interaction in methanogenic communities
Despite rapid advances in genomic-resolved metagenomics and remarkable explosion of metagenome-assembled genomes (MAGs), the function of uncultivated anaerobic lineages and their interactions in carbon mineral...
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Open AccessAssociation of lipid-lowering drugs with risk of sarcopenia: a drug target mendelian randomization study and meta-analysis
Lipid-lowering drugs are widely used among the elderly, with some studies suggesting links to muscle-related symptoms. However, the causality remains uncertain.
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Open AccessA novel variant in GAS2 is associated with autosomal dominant nonsyndromic hearing impairment in a Chinese family
Knockout of GAS2 (growth arrest-specific protein 2), causes disorganization and destabilization of microtubule bundles in supporting cells of the cochlear duct, leading to hearing loss in vivo. However, the molec...
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Open AccessUnveiling the molecular landscape of cognitive aging: insights from polygenic risk scores, DNA methylation, and gene expression
Aging represents a significant risk factor for the occurrence of cerebral small vessel disease, associated with white matter (WM) lesions, and to age-related cognitive alterations, though the precise mechanism...
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Open AccessThe cuproptosis-related signature predicts the prognosis and immune microenvironments of primary diffuse gliomas: a comprehensive analysis
Evidence has revealed a connection between cuproptosis and the inhibition of tumor angiogenesis. While the efficacy of a model based on cuproptosis-related genes (CRGs) in predicting the prognosis of periphera...
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Open AccessQuantifying functional redundancy in polysaccharide-degrading prokaryotic communities
Functional redundancy (FR) is widely present, but there is no consensus on its formation process and influencing factors. Taxonomically distinct microorganisms possessing genes for the same function in a commu...
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Open AccessAn expedited screening platform for the discovery of anti-ageing compounds in vitro and in vivo
Restraining or slowing ageing hallmarks at the cellular level have been proposed as a route to increased organismal lifespan and healthspan. Consequently, there is great interest in anti-ageing drug discovery....
