Results 1 to 10 of about 16,607 (189)

Rho Family GTPases and Rho GEFs in Glucose Homeostasis [PDF]

open access: yesCells, 2021
Dysregulation of glucose homeostasis leading to metabolic syndrome and type 2 diabetes is the cause of an increasing world health crisis. New intriguing roles have emerged for Rho family GTPases and their Rho guanine nucleotide exchange factor (GEF ...
Polly A. Machin   +3 more
doaj   +4 more sources

Genetic epilepsy with febrile seizures plus (GEFS+) [PDF]

open access: yesЭпилепсия и пароксизмальные состояния, 2020
Febrile seizures (FS) occur in about 2–3% of children aged 3 months to 5 years. Atypical febrile seizures are those with a focal component. Each subsequent febrile attack increases the risk of transformation into epilepsy. After the third febrile seizure,
A. A. Sharkov
doaj   +2 more sources

Fenfluramine in SCN1A‐related GEFS+: A multicenter observational study on efficacy, EEG improvement, and tolerability [PDF]

open access: yesEpilepsia Open
The SCN1A gene is implicated in a broad spectrum of epilepsy phenotypes, ranging from self‐limited genetic epilepsy with febrile seizures plus (GEFS+) to severe developmental and epileptic encephalopathies such as Dravet syndrome (DS). While fenfluramine
Giovanni B. Dell'Isola   +12 more
doaj   +2 more sources

Guanine Nucleotide Exchange Factors and Small GTPases: Their Regulation and Functions, Diseases, and Therapeutic Targets [PDF]

open access: yesMedComm
Guanine nucleotide exchange factors (GEFs) and their small GTPase substrates constitute a fundamental regulatory system that governs diverse cellular processes, including cytoskeletal dynamics, membrane trafficking, and transcriptional regulation.
Zexing Lin   +15 more
doaj   +2 more sources

Genetic epilepsy with febrile seizures plus – an overview [PDF]

open access: yesRomanian Journal of Neurology, 2021
Genetic epilepsy with febrile seizures plus (GEFS+) is characterized by a group of genetic epilepsies associated predominately with an autosomal dominant pattern, but also with de novo and autosomal-recessive inheritance, these last two found in a small ...
Madalina Radu   +3 more
doaj   +1 more source

Ensemble streamflow prediction considering the influence of reservoirs in Narmada River Basin, India [PDF]

open access: yesHydrology and Earth System Sciences, 2022
Developing an ensemble hydrological prediction system is essential for reservoir operations and flood early warning. However, efforts to build hydrological ensemble prediction systems considering the influence of reservoirs have been lacking in India. We
U. Vegad, V. Mishra, V. Mishra
doaj   +1 more source

Exaggerated Nighttime Sleep and Defective Sleep Homeostasis in a Drosophila Knock-In Model of Human Epilepsy. [PDF]

open access: yesPLoS ONE, 2015
Despite an established link between epilepsy and sleep behavior, it remains unclear how specific epileptogenic mutations affect sleep and subsequently influence seizure susceptibility. Recently, Sun et al.
Emily Petruccelli   +2 more
doaj   +1 more source

Association of Tumor Necrosis Factor-α Gene Promotor Variant, Not Interleukin-10, with Febrile Seizures and Genetic Epilepsy with Febrile Seizure Plus [PDF]

open access: yesAnnals of Child Neurology, 2019
Purpose Cytokines demonstrate active roles in the occurrence of febrile seizures (FS). However, whether a genetic predisposition to inflammation is implicated in FS, febrile seizure plus (FS+) or genetic epilepsy with febrile seizure plus (GEFS+) are ...
Jieun Choi   +9 more
doaj   +1 more source

The Emerging Role of Rho Guanine Nucleotide Exchange Factors in Cardiovascular Disorders: Insights Into Atherosclerosis: A Mini Review

open access: yesFrontiers in Cardiovascular Medicine, 2022
Atherosclerosis is a leading cause of cardiovascular disease, and atherosclerotic cardiovascular disease accounts for one-third of global deaths. However, the mechanism of atherosclerosis is not fully understood.
Mengqi Li   +9 more
doaj   +1 more source

In Vitro Genotoxicity Evaluation of PAHs in Mixtures Using Experimental Design

open access: yesToxics, 2023
Settled dusts are sinks for environmental pollutants, including Polycyclic Aromatic Hydrocarbons (PAHs) that are ubiquitous, persistent, and carcinogenic.
Rebecca Castel   +4 more
doaj   +1 more source

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