Results 81 to 90 of about 36,093 (252)

GEF-H1-RhoA signaling pathway mediates LPS-induced NF-κB transactivation and IL-8 synthesis in endothelial cells [PDF]

open access: yes, 2012
Secretion of proinflammatory cytokines by LPS activated endothelial cells contributes substantially to the pathogenesis of sepsis. However, the mechanism involved in this process is not well understood. In the present study, we determined the roles of GEF-
Derek Van Lonkhuyzen   +13 more
core   +1 more source

Oligogenic inheritance in epilepsy: A systematic exome‐wide analysis

open access: yesEpilepsia, EarlyView.
Abstract Objective Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.
Sarah Duerinckx   +192 more
wiley   +1 more source

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective The polygenic risk score (PRS) for individuals with genetic generalized epilepsy (GGE) quantifies the common risk variants in genes identified in genome‐wide association studies. We hypothesized that the phenotype of GGE patients differs based on their GGE PRS. Methods We identified participants with highest (n = 59) versus lowest (n 
Sophie von Brauchitsch   +27 more
wiley   +1 more source

How should etiology change the classification of the epilepsies? Report from the ILAE 2021–2025 Terminology Commission

open access: yesEpilepsia, EarlyView.
Abstract The classification of the epilepsies has traditionally relied on clinical and electroencephalographic features. However, advancements in molecular genetics, neuroimaging, and our understanding of epilepsy pathophysiology necessitate a shift toward an etiology‐based approach.
Nicola Specchio   +15 more
wiley   +1 more source

Epilepsy syndromes classification

open access: yesEpilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell   +4 more
wiley   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

open access: yesEpilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia   +4 more
wiley   +1 more source

Computational protein stability analysis of SCN1A missense variants reveals domain‐dependent stability patterns

open access: yesEpilepsia Open, EarlyView.
Abstract Objective To determine whether computational protein‐stability predictions discriminate pathogenic from benign SCN1A missense variants, and to characterize the structural distribution of predicted destabilization among pathogenic variants. Methods On an AlphaFold3‐predicted Nav1.1 structure, FoldX, and Rosetta Cartesian ΔΔG were computed for a
Youngkyu Shim   +3 more
wiley   +1 more source

From first seizure to specific antiseizure medication in Dravet syndrome: Quantifying delays in the DS'coverED study

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Dravet syndrome (DS) is a rare early‐onset developmental and epileptic encephalopathy with persistent delays between seizure onset and diagnosis. The DS'coverED study aimed to characterize current diagnostic timelines by examining each step and its duration, identifying residual barriers, and actionable solutions to optimize the ...
Loucas Christodoulou   +9 more
wiley   +1 more source

Guanine nucleotide exchange factor H1 can be a new biomarker of melanoma

open access: yesBiologics: Targets & Therapy, 2016
Jie Shi, Bingyu Guo, Yu Zhang, Qiang Hui, Peng Chang, Kai Tao Reconstructive and Plastic Surgery, The General Hospital of Shenyang Military Region, Shenyang, People’s Republic of China Abstract: Guanine nucleotide exchange ...
Shi J   +5 more
doaj  

How Is FinTech Shaping Household Portfolio Behaviour?

open access: yesInternational Journal of Finance &Economics, EarlyView.
ABSTRACT This paper examines how FinTech adoption influences household portfolio allocation across major advanced economies. Using a flow‐of‐funds framework and the Almost Ideal Demand System (AIDS), we model household demand for currency, deposits, loans, debt securities, and equity in the United States, United Kingdom, Euro Area, Japan and Australia.
Victor Murinde, Athina Petropoulou
wiley   +1 more source

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