Search results for "neuron"
showing 10 items of 2611 documents
An N-terminal deletion variant of HCN1 in the epileptic WAG/Rij strain modulates HCN current densities.
2015
Rats of the Wistar Albino Glaxo/Rij (WAG/Rij) strain show symptoms resembling human absence epilepsy. Thalamocortical neurons of WAG/Rij rats are characterized by an increased HCN1 expression, a negative shift in Ih activation curve, and an altered responsiveness of Ih to cAMP. We cloned HCN1 channels from rat thalamic cDNA libraries of the WAG/Rij strain and found an N-terminal deletion of 37 amino acids. In addition, WAG-HCN1 has a stretch of six amino acids, directly following the deletion, where the wild-type sequence (GNSVCF) is changed to a polyserine motif. These alterations were found solely in thalamus mRNA but not in genomic DNA. The truncated WAG-HCN1 was detected late postnatal …
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
2022
Wiedemann–Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID) condition associated with hypertrichosis cubiti, short stature, and characteristic facies caused by pathogenic variants in the KMT2A gene. Clinical features can be inconclusive in mild and unusual WDSTS presentations with variable ID (mild to severe), facies (typical or not) and other associated malformations (bone, cerebral, renal, cardiac and ophthalmological anomalies). Interpretation and classification of rare KMT2A variants can be challenging. A genome-wide DNA methylation episignature for KMT2A-related syndrome could allow functional classification of variants and provide insights into the pathoph…
The influence of the momentum coefficient and the number of the averaging points of the power spectrum density on the recognition effectiveness of th…
2006
The subject matter of this paper refers to the next stage of the research work connected with the improvement of the acoustic emission method (AE) used for the evaluation of partial discharges (PDs) generated in paper-oil insulation systems of high-voltage power appliances. The subject matter discussed here refers to one of the aspects of the analysis of the signals registered - a correct and effective recognition of the AE signals generated by basic PD forms. The paper presents research results of the application of the unidirectional artificial neuron networks (ANN) used for the recognition of basic PD forms that can occur in paper-oil insulation impaired by aging processes.
Community detection‐based deep neural network architectures: A fully automated framework based on Likert‐scale data.
2020
Deep neural networks (DNNs) have emerged as a state‐of‐the‐art tool in very different research fields due to its adaptive power to the decision space since they do not presuppose any linear relationship between data. Some of the main disadvantages of these trending models are that the choice of the network underlying architecture profoundly influences the performance of the model and that the architecture design requires prior knowledge of the field of study. The use of questionnaires is hugely extended in social/behavioral sciences. The main contribution of this work is to automate the process of a DNN architecture design by using an agglomerative hierarchical algorithm that mimics the con…
Electrophysiological and morphological properties of Cajal–Retzius cells with different ontogenetic origins
2010
International audience; The different origins of Cajal-Retzius cells (CRc) as well as their diverse molecular profile suggest that this cell type may represent different neuronal subpopulations. In order to investigate whether CRc from different origins show distinct functional or morphological characteristics we used transgenic Dbx1(cre);ROSA26(YFP) mice in which two subpopulations of CRc, originating from the septum and ventral pallium (VP) at the pallial-subpallial border (PSB), were permanently labeled by yellow fluorescent protein (YFP) expression. Electrophysiological properties of YFP(+) and YFP(-) CRc were investigated by whole-cell patch-clamp recordings, while a thorough somatoden…
Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants.
2020
Mowat-Wilson syndrome is a genetic disorder associated with a variable phenotype including peculiar facial features associated with intellectual disability, epilepsy, language impairment, and multiple congenital anomalies caused by heterozygous mutation of the ZEB2 gene. The ZEB2 protein is a complex transcription factor that encompasses multiple functional domains that interact with the regulatory regions of target genes including those involved in brain development. Recently, it has been documented that ZEB2 regulates the differentiation of interneuron progenitors migrating from the medial ganglionic eminence to cortical layers by repression of the Nkx2-1 homeobox transcription factor. It…
Experimental and numerical enhancement of Vibrational Resonance in a neural circuit
2012
International audience; A neural circuit exactly ruled by the FitzHugh-Nagumo equations is excited by a biharmonic signal of frequencies f and F with respective amplitudes A and B. The magnitude spectrum of the circuit response is estimated at the low frequency driving f and presents a resonant behaviour versus the amplitude B of the high frequency. For the first time, it is shown experimentally that this Vibrational Resonance effect is much more pronounced when the two frequencies are multiple. This novel enhancement is also confirmed by numerical predictions. Applications of this nonlinear effect to the detection of weak stimuli are finally discussed.
Olfactory sensory neurons plasticity induced by postnatal odorant exposure
2012
Olfactory sensory neurons plasticity induced by postnatal odorant exposure. 16. International symposium on olfaction and taste (ISOT)
Role of polysialic acid (PSA) in the control of food intake and body weight
2013
Hypothalamus plays a major role in the regulation of energy homeostasis by the presence of neural circuits controlling food intake. These circuits are plastic and can be rewired during adulthood. We hypothesized that synaptic plasticity can occur during physiological conditions. We have shown that synaptic contact on hypothalamic anorexigen POMC neurons are rewired in mouse upon high fat diet (HFD). This synaptic process is mandatory to adjust energy intake and requires the glycan PSA (polysialic acid). PSA promotes synaptic plasticity in the brain by the weakening of cell-to-cell interaction by addition on NCAM (neural cell adhesion molecule). We hypothesized that a defect in brain synapti…
Hey Teacher, Don’t Leave Them Kids Alone: Action Is Better for Memory than Reading
2017
International audience; There is no consensus on how the enactment effect (EE), although it is robust, enhances memory. Researchers are currently investigating the cognitive processes underlying this effect, mostly during adulthood; the link between EE and crucial function identified in adulthood such as episodic memory and binding process remains elusive. Therefore, this study aims to verify the existence of EE in 6–10 years old and assess cognitive functions potentially linked to this effect in order to shed light on the mechanisms underlying the EE during childhood. Thirty-five children (15 second graders and 20 fifth graders) were included in this study. They encoded 24 action phrases f…