Abstract:
:Autism Spectrum Disorder (ASD) is a common neurodevelopmental disorder with a strong but complex genetic component. Recent family based exome-sequencing strategies have identified recurrent de novo mutations at specific genes, providing strong evidence for ASD risk, but also highlighting the extreme genetic heterogeneity of the disorder. However, disruptions in these genes converge on key molecular pathways early in development. In particular, functional enrichment analyses have found that there is a bias toward genes involved in transcriptional regulation, such as chromatin modifiers. Here we review recent genetic, animal model, co-expression network, and functional genomics studies relating to the high confidence ASD risk gene, CHD8. CHD8, a chromatin remodeling factor, may serve as a "master regulator" of a common ASD etiology. Individuals with a CHD8 mutation show an ASD subtype that includes similar physical characteristics, such as macrocephaly and prolonged GI problems including recurrent constipation. Similarly, animal models of CHD8 disruption exhibit enlarged head circumference and reduced gut motility phenotypes. Systems biology approaches suggest CHD8 and other candidate ASD risk genes are enriched during mid-fetal development, which may represent a critical time window in ASD etiology. Transcription and CHD8 binding site profiles from cell and primary tissue models of early development indicate that CHD8 may also positively regulate other candidate ASD risk genes through both direct and indirect means. However, continued study is needed to elucidate the mechanism of regulation as well as identify which CHD8 targets are most relevant to ASD risk. Overall, these initial studies suggest the potential for common ASD etiologies and the development of personalized treatments in the future.
journal_name
Front Neuroscijournal_title
Frontiers in neuroscienceauthors
Barnard RA,Pomaville MB,O'Roak BJdoi
10.3389/fnins.2015.00477subject
Has Abstractpub_date
2015-12-17 00:00:00pages
477eissn
1662-4548issn
1662-453Xjournal_volume
9pub_type
杂志文章,评审abstract::Currently the integrity of brain function that drives behavior is predominantly measured in terms of pure motor function, yet most human behavior is visually driven. A means of easily quantifying such visually-driven brain function for comparison against population norms is lacking. Analysis of eye-hand coordination (...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2019.00711
更新日期:2019-07-10 00:00:00
abstract::Chronic glial activation is characterized by an increased number of activated microglia and astroglia; these secrete free radicals and cytotoxic cytokines, subsequently causing neuronal damage. This study investigated the hypothesis that a soy-lecithin based phytosomal curcumin formulation can decrease glial activatio...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2020.00170
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abstract:Purpose:The study is conducted to identify the best corpus callosum (CC) sub-region that corresponds to highest callosal tissue alteration occurred due to Parkinsonism. In this regard the efficacy of local binary pattern (LBP) based texture analysis (TA) of CC is performed to quantify the changes in topographical distr...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2020.00477
更新日期:2020-05-28 00:00:00
abstract:Background:The mechanism of post-stroke cognitive impairment (PSCI) has not been explained. We aimed to investigate whether miR-let-7i participates in the PSCI and illuminates its underlying role in oxygen-glucose deprivation (OGD)-induced cell apoptosis. Methods:Blood samples from 36 subjects with PSCI and 38 with po...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2020.00215
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abstract::The diterpenoid compound, Oridonin, extracted from the Chinese herb, Rabdosia rubescens, possesses multiple biological activities and properties. Oridonin exhibited efficient anti-inflammatory activity by inducing a switch in macrophage polarization to the anti-inflammatory phenotype through inhibition of the Notch pa...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2019.00272
更新日期:2019-04-02 00:00:00
abstract::Object-location memory (OLM) is known to decline with normal aging, a process accelerated in pathological conditions like mild cognitive impairment (MCI). In order to maintain cognitive health and to delay the transition from healthy to pathological conditions, novel strategies are being explored. Tentative evidence s...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2017.00746
更新日期:2018-01-10 00:00:00
abstract::Over the past several decades, clinical studies have shown significant analgesic effects of acupuncture. The efficacy of acupuncture treatment has improved with the recent development of nanoporous needles (PN), which are produced by modifying the needle surface using nanotechnology. Herein, we showed that PN at acupo...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2019.00652
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abstract:Objectives:Acute sleep deprivation (SD) seriously affects cognitive functions, such as attention, memory, and response inhibition. Previous neuroimaging studies have demonstrated a close relationship between the functional activities of the precuneus (PC) and the function of alert attention. However, the specific effec...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2020.530257
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abstract::Persons diagnosed with disorders of consciousness (DOC) typically suffer from motor and cognitive disabilities. Recent research has shown that non-invasive brain-computer interface (BCI) technology could help assess these patients' cognitive functions and command following abilities. 20 DOC patients participated in th...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2020.00294
更新日期:2020-04-09 00:00:00
abstract::Individuals differ widely in how steeply they discount future rewards. The sources of these stable individual differences in delay discounting (DD) are largely unknown. One candidate is the COMT Val158Met polymorphism, known to modulate prefrontal dopamine levels and affect DD. To identify possible neural mechanisms b...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2012.00054
更新日期:2012-05-07 00:00:00
abstract::Introduction: The presence of a temporomandibular disorder is one of the most frequent causes of orofacial pain (OFP). When pain continues beyond tissue healing time, it becomes chronic and may be caused, among other factors, by the sensitization of higher-order neurons. The aim of this study is to describe psychologi...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2020.552650
更新日期:2020-11-12 00:00:00
abstract::Gene Expression Programming (GEP), a variant of Genetic Programming (GP), is a well established technique for automatic generation of computer programs. Due to the flexible representation, GEP has long been concerned as a classification algorithm for various applications. Whereas, GEP cannot be extended to multi-class...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2019.01396
更新日期:2020-01-17 00:00:00
abstract::Novel therapeutic approaches for treating inherited retinal degenerations (IRDs) prompt a need to understand which patients with impaired vision have the anatomical potential to gain from participation in a clinical trial. We used supervised machine learning to predict foveal function from foveal structure in blue con...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2020.00800
更新日期:2020-08-03 00:00:00
abstract::The aim of the present study was to test whether transcranial electrical stimulation can modulate illusory perception in the auditory domain. In two separate experiments we applied transcranial Direct Current Stimulation (anodal/cathodal tDCS, 2 mA; N = 60) and high-frequency transcranial Random Noise Stimulation (hf-...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2017.00351
更新日期:2017-06-20 00:00:00
abstract::Previous works exploring the challenges of ensuring information security for neuroprosthetic devices and their users have typically built on the traditional InfoSec concept of the "CIA Triad" of confidentiality, integrity, and availability. However, we argue that the CIA Triad provides an increasingly inadequate found...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2017.00605
更新日期:2017-11-07 00:00:00
abstract::We investigated whether the categorical perception (CP) of speech might also provide a mechanism that aids its perception in noise. We varied signal-to-noise ratio (SNR) [clear, 0 dB, -5 dB] while listeners classified an acoustic-phonetic continuum (/u/ to /a/). Noise-related changes in behavioral categorization were ...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2020.00153
更新日期:2020-02-27 00:00:00
abstract::Increasingly, neuroimaging researchers are exploring the use of real-time functional magnetic resonance imaging (rt-fMRI) as a way to access a participant's ongoing brain function throughout a scan. This approach presents novel and exciting experimental applications ranging from monitoring data quality in real time, t...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2020.00900
更新日期:2020-09-15 00:00:00
abstract::Prior research has shown that musical beats are salient at the level of the cortex in humans. Yet below the cortex there is considerable sub-cortical processing that could influence beat perception. Some biases, such as a tempo preference and an audio frequency bias for beat timing, could result from sub-cortical proc...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2018.00349
更新日期:2018-05-29 00:00:00
abstract::Motor recovery following nerve transfer surgery depends on the successful re-innervation of the new target muscle by regenerating axons. Cortical plasticity and motor relearning also play a major role during functional recovery. Successful neuromuscular rehabilitation requires detailed afferent feedback. Surface elect...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2018.00906
更新日期:2018-12-04 00:00:00
abstract::The GABAergic neurons in the lateral pontine tegmentum (LPT) play key roles in the regulation of sleep and locomotion. The dysfunction of the LPT is related to neurological disorders such as rapid eye movement sleep behavior disorder and ocular flutter. However, the whole-brain neural connectivity to LPT GABAergic neu...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2019.00375
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abstract::There are few behavioral effects as ubiquitous as the speed-accuracy tradeoff (SAT). From insects to rodents to primates, the tendency for decision speed to covary with decision accuracy seems an inescapable property of choice behavior. Recently, the SAT has received renewed interest, as neuroscience approaches begin ...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章,评审
doi:10.3389/fnins.2014.00150
更新日期:2014-06-11 00:00:00
abstract::Exosomes are involved in the progression of neurodegenerative diseases. The cellular prion protein (PrPC) is highly expressed on exosomes. In neurodegenerative diseases, PrPC has at least two functions: It is the substrate for the generation of pathological prion protein (PrPSc), a key player in the pathophysiology of...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章,评审
doi:10.3389/fnins.2017.00194
更新日期:2017-04-19 00:00:00
abstract::Understanding the complex neural mechanisms controlling urinary bladder activity is an extremely important topic in both neuroscience and urology. Simultaneously recording of the bladder activity and neural activity in related brain regions will largely advance this field. However, such recording approach has long bee...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2019.00663
更新日期:2019-06-25 00:00:00
abstract::It has long been debated whether visual processing is, at least partially, a discrete process. Although vision appears to be a continuous stream of sensory information, sophisticated experiments reveal periodic modulations of perception and behavior. Previous work has demonstrated that the phase of endogenous neural o...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2019.00232
更新日期:2019-03-15 00:00:00
abstract::This work presents sPyNNaker 4.0.0, the latest version of the software package for simulating PyNN-defined spiking neural networks (SNNs) on the SpiNNaker neuromorphic platform. Operations underpinning realtime SNN execution are presented, including an event-based operating system facilitating efficient time-driven ne...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2018.00816
更新日期:2018-11-20 00:00:00
abstract::This paper presents a real-time, low-complexity neuromorphic speech recognition system using a spiking silicon cochlea, a feature extraction module and a population encoding method based Neural Engineering Framework (NEF)/Extreme Learning Machine (ELM) classifier IC. Several feature extraction methods with varying mem...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2018.00160
更新日期:2018-03-28 00:00:00
abstract::Abdominal obesity is important for understanding obesity, which is a worldwide medical problem. We explored structural and functional brain differences in people with abdominal and non-abdominal obesity by using multimodal neuroimaging and up-to-date analysis methods. A total of 274 overweight people, whose body mass ...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2018.00741
更新日期:2018-10-11 00:00:00
abstract::Musicians have considerable experience naming pitch-classes with verbal (e.g., Doh, Ré, and Mi) and semiotic tags (e.g., musical notation). On the one end of the spectrum, musicians can identify the pitch of a piano tone or quality of a chord without a reference tone [i.e., absolute pitch (AP) or relative pitch], whic...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2019.00932
更新日期:2019-09-06 00:00:00
abstract::Corticotropin-releasing factor (CRF) is a 41-amino acid neuropeptide that is involved in stress-related physiology and behavior, including control of the hypothalamic-pituitary-adrenal (HPA) axis. Members of the CRF family of neuropeptides, including urocortin 1 (UCN 1), UCN 2, and UCN 3, bind to the G protein-coupled...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章,评审
doi:10.3389/fnins.2013.00169
更新日期:2013-09-20 00:00:00
abstract:BACKGROUND:Some drugs of abuse down regulate the expression of cystine/glutamate (xCT) antiporter in the nucleus accumbens (Acb) after extinction or withdrawal. The altered level of xCT exchanger in Acb, a structure involved in ethanol reinforcement, may contribute to the pathological glutamatergic signaling, linked to...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2014.00311
更新日期:2014-10-06 00:00:00