Results 151 to 160 of about 331,232 (268)

Activation of Glutamatergic Neurons in the Supramammillary Nucleus Promotes the Recovery of Consciousness under Sevoflurane Anesthesia

open access: yesAdvanced Science, EarlyView.
Selective lesioning of SuM glutamatergic neurons promoted the induction of and delayed emergence from sevoflurane anesthesia and increased sevoflurane sensitivity. Optogenetic stimulation of SuM glutamatergic neurons or the SuM‐MS projection promoted behavioral arousal and cortical activation under steady‐state sevoflurane anesthesia and reduced the ...
Jiayan Li   +8 more
wiley   +1 more source

Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 332-337, February 2023., 2023
Abstract GTF2IRD1, a gene on chromosome 7 which encodes a transcription factor, is of significant clinical interest due to its heterozygous loss as part of the classical deletion associated with Williams–Beuren syndrome (WBS). However, biallelic variants in GTF2IRD1 alone as part of an autosomal recessive disease have not been previously reported. Here,
Christopher Thomas Cummings   +1 more
wiley   +1 more source

Bilirubin Targeting WNK1 to Alleviate NLRP3‐Mediated Neuroinflammation

open access: yesAdvanced Science, EarlyView.
At physiological concentrations, bilirubin binds to the kinase domain of WNK1, thereby augmenting its activity and facilitating the phosphorylation of downstream SPAK/OSR1. This phosphorylation inhibits KCC2 activity, leading to elevate intracellular chloride levels in neurons.
Linfei Mao   +14 more
wiley   +1 more source

The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 424-436, February 2023., 2023
Abstract Several changes in the behavioral phenotype arise with the growth of children affected by Cornelia de Lange Syndrome (CdLS) and Rubinstein‐Taybi Syndrome (RSTS). However, previous research relied on a cross‐sectional study design turning into age‐related comparisons of different syndromic cohorts to explore age‐dependent changes.
Paola Francesca Ajmone   +11 more
wiley   +1 more source

Polysomnographic titration of non-invasive ventilation in motor neurone disease (3TLA): protocol for a process evaluation of a clinical trial

open access: yesTrials
Background We are undertaking a multicentre randomised controlled trial to determine the effectiveness of including a sleep study (polysomnography (PSG)) to assist the commencement of non-invasive ventilation (NIV) in people with motor neurone disease ...
Marnie Graco   +8 more
doaj   +1 more source

PedSleepMAE: Generative Model for Multimodal Pediatric Sleep Signals [PDF]

open access: yesarXiv
Pediatric sleep is an important but often overlooked area in health informatics. We present PedSleepMAE, a generative model that fully leverages multimodal pediatric sleep signals including multichannel EEGs, respiratory signals, EOGs and EMG. This masked autoencoder-based model performs comparably to supervised learning models in sleep scoring and in ...
arxiv  

α‐Synuclein Pathology Spreads in a Midbrain–Hindbrain Assembloid Model

open access: yesAdvanced Science, EarlyView.
A novel midbrain–hindbrain assembloid model demonstrates the spread of α‐synuclein pathology, a hallmark of Parkinson's disease, mimicking Braak's hypothesis. This model reveals how pathology propagates from the hindbrain to the midbrain, inducing synaptic changes and early signs of neuronal vulnerability. It offers an innovative platform for exploring
Gemma Gomez‐Giro   +14 more
wiley   +1 more source

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