Abstract:
:Although the genetic basis of Tourette Syndrome (TS) remains unclear, several candidate genes have been implicated. Using a set of 382 TS individuals of European ancestry we investigated four candidate genes for TS (HDC, SLITRK1, BTBD9, and SLC6A4) in an effort to identify possibly causal variants using a targeted re-sequencing approach by next generation sequencing technology. Identification of possible disease causing variants under different modes of inheritance was performed using the algorithms implemented in VAAST. We prioritized variants using Variant ranker and validated five rare variants via Sanger sequencing in HDC and SLITRK1, all of which are predicted to be deleterious. Intriguingly, one of the identified variants is in linkage disequilibrium with a variant that is included among the top hits of a genome-wide association study for response to citalopram treatment, an antidepressant drug with off-label use also in obsessive compulsive disorder. Our findings provide additional evidence for the implication of these two genes in TS susceptibility and the possible role of these proteins in the pathobiology of TS should be revisited.
journal_name
Front Neuroscijournal_title
Frontiers in neuroscienceauthors
Alexander J,Potamianou H,Xing J,Deng L,Karagiannidis I,Tsetsos F,Drineas P,Tarnok Z,Rizzo R,Wolanczyk T,Farkas L,Nagy P,Szymanska U,Androutsos C,Tsironi V,Koumoula A,Barta C,TSGeneSEE.,Sandor P,Barr CL,Tischfielddoi
10.3389/fnins.2016.00428subject
Has Abstractpub_date
2016-09-21 00:00:00pages
428eissn
1662-4548issn
1662-453Xjournal_volume
10pub_type
杂志文章abstract::Features and functions of long-range GABAergic projection neurons in the developing cerebral cortex have been reported previously, although until now their significance in the adult cerebral cortex has remained uncertain. The septo-hippocampal circuit is one exception - in this system, long-range mature GABAergic proj...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2010.00202
更新日期:2010-12-08 00:00:00
abstract::Recently, Parkinson's disease-associated α-synuclein (αS) has emerged as an important regulator for SNARE-dependent vesicle fusion. However, it is controversial if excessive accumulation of αS, even in the absence of aggregation, impairs neurotransmission. Here we use a single vesicle fusion assay with ms time resolut...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2019.00216
更新日期:2019-03-21 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::Women with epilepsy commonly have premature onset of menopause. The decrease in estrogen levels is associated with increased occurrence of neurodegenerative processes and cognitive decline. Previously, we found that estradiol (E2) replacement in ovariectomized (OVX) female rats significantly reduced the seizure-relate...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2018.00332
更新日期:2018-06-20 00:00:00
abstract:Background:Cochlear implants (CIs) are auditory prostheses designed to support spoken communication in persons with severe to profound hearing loss. Many post-lingually deaf adult CI users achieve good speech recognition in quiet; unfortunately, CI technology conveys a degraded representation of pitch and timbre, essen...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2019.01368
更新日期:2019-12-24 00:00:00
abstract::A well-defined granular layer 4 is a defining cytoarchitectonic feature associated with sensory areas of mammalian cerebral cortex, and one with hodological significance: the local axons ascending from cells in thalamorecipient layer 4 and connecting to layer 2/3 pyramidal neurons form a major feedforward excitatory i...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/neuro.01.030.2009
更新日期:2009-12-15 00:00:00
abstract::Chronic exposure to alcohol produces adaptations within the basolateral amygdala (BLA) that are associated with the development of anxiety-like behaviors during withdrawal. In part, these adaptations are mediated by plasticity in glutamatergic synapses occurring through an AMPA receptor mediated form of post-synaptic ...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2017.00424
更新日期:2017-07-21 00:00:00
abstract::Central sleep apnea is a sudden arrest of breathing during sleep caused by the central commands to the thoracoabdominal muscles. It is a widespread phenomenon in both healthy and diseased people, as well as in some animals. However, there is an ongoing debate whether it can be considered as a pathological deviation of...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2020.00568
更新日期:2020-06-17 00:00:00
abstract::Reconsolidation of memories has mostly been studied at the behavioral and molecular level. Here, we put forward a simple extension of existing computational models of synaptic consolidation to capture hippocampal slice experiments that have been interpreted as reconsolidation at the synaptic level. The model implement...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2016.00206
更新日期:2016-05-18 00:00:00
abstract::In the event-related potential (ERP) of scalp electroencephalography (EEG) studies, the vertex reference (Cz), linked mastoids or ears (LM), and average reference (AVG) are popular reference methods, and the reference electrode standardization technique (REST) is increasingly applied. Because scalp EEG recordings are ...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2019.01068
更新日期:2019-10-11 00:00:00
abstract::The neuropeptide gonadotropin-releasing hormone (GnRH) plays an important role in the control of reproductive functions. Vertebrates possess multiple GnRH forms that are classified into three main groups, namely GnRH1, GnRH2, and GnRH3. In order to gain more insights into the GnRH gene family in vertebrates, we sought...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2018.00607
更新日期:2018-09-06 00:00:00
abstract::Transcranial direct current stimulation (tDCS) is a non-invasive brain stimulation technique to change cortical excitability. Its effects are shown for cognitive processing, and behavior in the motor and perceptual domains. However, evidence of tDCS effects in the perceptual domain particularly for auditory processing...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2018.00880
更新日期:2018-11-27 00:00:00
abstract::Gene expression profiling was performed on the human neuroglial cell line T98G after treatment with adaptogen ADAPT-232 and its constituents - extracts of Eleutherococcus senticosus root, Schisandra chinensis berry, and Rhodiola rosea root as well as several constituents individually, namely, eleutheroside E, schizand...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2013.00016
更新日期:2013-02-20 00:00:00
abstract::Investigation into the neural and computational bases of decision-making has proceeded in two parallel but distinct streams. Perceptual decision-making (PDM) is concerned with how observers detect, discriminate, and categorize noisy sensory information. Economic decision-making (EDM) explores how options are selected ...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2012.00070
更新日期:2012-05-24 00:00:00
abstract::Up to 50% of traumatic brain injury (TBI) survivors demonstrate persisting and late-onset anxiety disorders indicative of limbic system dysregulation, yet the pathophysiology underlying the symptoms is unclear. We hypothesize that the development of TBI-induced anxiety-like behavior in an experimental model of TBI is ...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2019.01434
更新日期:2020-01-21 00:00:00
abstract::It is necessary to understand the morphology of the vagus nerve (VN) to design and deliver effective and selective vagus nerve stimulation (VNS) because nerve morphology influences fiber responses to electrical stimulation. Specifically, nerve diameter (and thus, electrode-fiber distance), fascicle diameter, fascicula...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2020.601479
更新日期:2020-11-04 00:00:00
abstract::Growing evidence indicates that neuropathic pain is frequently accompanied by cognitive impairments, which aggravate the quality of life of chronic pain patients. Here, we investigated whether acupuncture treatments can improve cognitive dysfunction as well as allodynia induced by neuropathic pain in mice. One week af...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2019.00995
更新日期:2019-09-20 00:00:00
abstract::Central pattern generator (CPG) networks coordinate the generation of rhythmic activity such as locomotion and respiration. Their development is driven by various transcription factors, one of which is the Wilms tumor protein (Wt1). It is present in dI6 neurons of the mouse spinal cord, and involved in the coordinatio...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2020.529487
更新日期:2020-11-30 00:00:00
abstract::The comprehension of fluent speech in one's native language requires that listeners integrate the detailed acoustic-phonetic information available in the sound signal with linguistic knowledge. This interplay is especially apparent in the phoneme restoration effect, a phenomenon in which a missing phoneme is "restored...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2014.00134
更新日期:2014-06-04 00:00:00
abstract::The motor neuron degenerative disease spinal muscular atrophy (SMA) remains one of the most frequently inherited causes of infant mortality. Afflicted patients loose the survival motor neuron 1 (SMN1) gene but retain one or more copies of SMN2, a homolog that is incorrectly spliced. Primary treatment strategies for SM...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章,评审
doi:10.3389/fnins.2014.00325
更新日期:2014-10-15 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
更新日期:2019-04-24 00:00:00
abstract::Compelling data demonstrate that inflammation-associated anorexia directly results from the action of pro-inflammatory factors, primarily cytokines and prostaglandins E2, on the nervous system. For instance, the aforementioned pro-inflammatory factors can stimulate the activity of peripheral sensory neurons, and induc...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/neuro.23.003.2009
更新日期:2010-01-08 00:00:00
abstract::A P300 brain-computer interface (BCI) is a paradigm, where text characters are decoded from event-related potentials (ERPs). In a popular implementation, called P300 speller, a subject looks at a display where characters are flashing and selects one character by attending to it. The selection is recognized as the item...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2020.604629
更新日期:2020-12-03 00:00:00
abstract::The habenular neural circuit is attracting increasing attention from researchers in fields as diverse as neuroscience, medicine, behavior, development, and evolution. Recent studies have revealed that this part of the limbic system in the dorsal diencephalon is involved in reward, addiction, and other behaviors and it...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2012.00051
更新日期:2012-04-23 00:00:00
abstract::Evaluating the effectiveness and performance of neuromorphic hardware is difficult. It is even more difficult when the task of interest is a closed-loop task; that is, a task where the output from the neuromorphic hardware affects some environment, which then in turn affects the hardware's future input. However, close...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2015.00464
更新日期:2015-12-15 00:00:00
abstract:Background and Purpose:Oncological neurosurgery relies heavily on making continuous, intra-operative tumor-brain delineations based on image-guidance. Limitations of currently available imaging techniques call for the development of real-time image-guided resection tools, which allow for reliable functional and anatomi...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2019.01384
更新日期:2020-01-09 00:00:00
abstract:Objectives:The frontal-striatum-thalamus pathway is important in the glutamic neural circuit. The hypofunction of GRIN1 and GRIA2 subunits from glutamic receptors has been hypothesized as the primary process in the etiology of schizophrenia. Identified gene polymorphism involved in the pathogenesis of schizophrenia may...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2020.00351
更新日期:2020-04-21 00:00:00
abstract::Decades of research dedicated toward Alzheimer's disease (AD) has culminated in much of the current understanding of the neurodegeneration associated with disease. However, delineating the pathophysiology and finding a possible cure for the disease is still wanting. This is in part due to the lack of knowledge pertain...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章,评审
doi:10.3389/fnins.2015.00215
更新日期:2015-06-09 00:00:00
abstract:Objectives:Many post-traumatic patients with minimally conscious state are complicated by psychomotor inhibition state (PIS), which impedes further rehabilitation. The treatment of PIS is not satisfactory. This pilot study aimed to investigate effects of anodal transcranial direct current stimulation (A-tDCS) on PIS in...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2020.00386
更新日期:2020-05-20 00:00:00
abstract::In our complex acoustic environment, we are confronted with a mixture of sounds produced by several simultaneous sources. However, we rarely perceive these sounds as incomprehensible noise. Our brain uses perceptual organization processes to independently follow the emission of each sound source over time. If the acou...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/neuro.01.025.2009
更新日期:2009-09-15 00:00:00