Results 101 to 110 of about 4,082,283 (306)
Repair of neuronal DNA damage in Alzheimer's disease by KCL‐286. (A) Amyloid‐β oligomers and plaques impair neuronal DNA repair pathways, leading to DNA double‐strand breaks and glial activation. (B) KCL‐286 activates RARβ/RXR signalling via retinoic acid response elements (RAREs), associated with increased BRCA1 expression, enhanced DNA repair and ...
Natasha Hill +6 more
wiley +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
ABSTRACT Objective To evaluate the expression of nine blood RNA biomarkers in a clinical trial based on genes previously identified in an experimental monkey model of stroke for diagnosis feasibility and prognostication. Methods IBIS‐CT1 was a prospective longitudinal study enrolling patients with ischemic stroke (IS) or intracerebral hemorrhage (ICH ...
Salomé Retailleau +11 more
wiley +1 more source
Graph Kernel Neural Networks [PDF]
The convolution operator at the core of many modern neural architectures can effectively be seen as performing a dot product between an input matrix and a filter.
Bicciato, Alessandro +14 more
core +1 more source
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar +7 more
wiley +1 more source
Objective We describe the frequency, risk factors, severity, and management of actionable and serious adverse events (AAE and SAE) in children with newly diagnosed Juvenile Idiopathic Arthritis (JIA) in Canada. Methods We enrolled patients within 3 months of JIA diagnosis in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry,
Bashayer Alnuaimi +10 more
wiley +1 more source
Graph Structure of Neural Networks
Neural networks are often represented as graphs of connections between neurons. However, despite their wide use, there is currently little understanding of the relationship between the graph structure of the neural network and its predictive performance.
Jiaxuan You +3 more
openaire +3 more sources
A Comparison between Invariant and Equivariant Classical and Quantum Graph Neural Networks
Machine learning algorithms are heavily relied on to understand the vast amounts of data from high-energy particle collisions at the CERN Large Hadron Collider (LHC). The data from such collision events can naturally be represented with graph structures.
Roy T. Forestano +10 more
doaj +1 more source
Graph neural networks for network analysis [PDF]
With an increasing number of applications where data can be represented as graphs, graph neural networks (GNNs) are a useful tool to apply deep learning to graph data.
He, Yixuan
core +1 more source

