Results 111 to 120 of about 1,037,078 (360)

RIG‐I Mediated Neuron‐Specific IFN Type 1 Signaling in FUS‐ALS Induces Neurodegeneration and Offers New Biomarker‐Driven Individualized Treatment Options for (FUS‐)ALS

open access: yesAdvanced Science, EarlyView.
Using iPSC‐derived motoneurons and postmortem tissue from FUS‐ALS patients, it is demonstrated that increased mitochondrial transcription leads to elevated cytosolic double‐stranded RNA (dsRNA) levels. This aberrant accumulation activates a RIG‐I–dependent innate immune response leading to neurodegeneration, which is amenable for FDA‐ and EMA‐approved ...
Marcel Naumann   +26 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei   +4 more
wiley   +1 more source

Genome‐Wide by Lifetime Environment Interaction Studies of Brain Imaging Phenotypes

open access: yesAdvanced Science, EarlyView.
This study explores genome‐wide by lifetime environment interactions on brain imaging phenotypes. Gene‐environment interactions explain more phenotypic variance than main effects, pinpoint regulatory variants, and reveal exposure‐specific biological pathways.
Sijia Wang   +51 more
wiley   +1 more source

ADOLESCENT AMENORRHEA [PDF]

open access: yesAnnals of the New York Academy of Sciences, 1967
Peer Reviewed ; http://deepblue.lib.umich.edu/bitstream/2027.42/73937/1/j.1749-6632.1967.tb14694.x ...
openaire   +3 more sources

A Patient‐Derived Organoid Biobank of Adamantinomatous Craniopharyngioma as a Platform for Drug Discovery

open access: yesAdvanced Science, EarlyView.
This study successfully establishes adamantinomatous craniopharyngioma (ACP) patient‐derived organoids (PDOs) that preserve the histopathological and genetic features of the original tumors. Through drug sensitivity assays and subsequent mechanistic analyses, the study demonstrates that Ceritinib exerts its inhibitory effects on ACP PDO growth by ...
Huarong Zhang   +15 more
wiley   +1 more source

Perceived emotional intelligence as a predictor of depressive symptoms after a one year follow-up during adolescence [PDF]

open access: yes, 2016
Research to date has identified various risk factors in the emergence of depressive disorders in adolescence. There are very few studies, however, which have analyzed the role of perceived emotional intelligence in depressive symptoms longitudinally ...
Gomez-Baya, Diego   +2 more
core   +1 more source

The mediating role of maternal inflammation on associations between first-trimester plasticizer exposure and personal-social and language in infants

open access: yesEcotoxicology and Environmental Safety
Background: Maternal exposure to bisphenol A (BPA) or phthalates (PAEs) increases inflammation and the risk of neurodevelopmental disorders in offspring. However, limited epidemiological studies have examined the neurodevelopmental effects of co-exposure
Penghong Li   +9 more
doaj   +1 more source

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