Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans.

Abstract:

:Autosomal dominant nonsyndromic hearing loss (ADNSHL) is extremely heterogeneous. So far the genetic etiological contribution of the gene POU4F3 associated with ADNSHL has been rarely reported. In our previous study, a c.603_604delGG mutation in the hair cell specific gene POU4F3 has been identified as the pathogenic cause in one of the seven Chinese Han ADNSHL families. In the present study, we performed targeted next-generation sequencing of 144 known deafness genes in another nine Chinese Han ADNSHL families and identified two more novel mutations in POU4F3, p.Leu311Pro and c.120+1G>C, as the pathogenic cause. Clinical characterization of the affected individuals in these three families showed that the three POU4F3 mutations may lead to progressive hearing loss with variable ages of onset and degrees of severity. Our results suggested that mutations in POU4F3 are a relatively common cause (3/16) for ADNSHL in Chinese Hans, which should be routinely screened in such cases during genetic testing.

journal_name

Neural Plast

journal_title

Neural plasticity

authors

He L,Pang X,Chen P,Wu H,Yang T

doi

10.1155/2016/9890827

subject

Has Abstract

pub_date

2016-01-01 00:00:00

pages

9890827

eissn

2090-5904

issn

1687-5443

journal_volume

2016

pub_type

杂志文章
  • Memory effects of benzodiazepines: memory stages and types versus binding-site subtypes.

    abstract::Benzodiazepines are well established as inhibitory modulators of memory processing. This effect is especially prominent when applied before the acquisition phase of a memory task. This minireview concentrates on the putative subtype selectivity of the acquisition-impairing action of benzodiazepines. Namely, recent gen...

    journal_title:Neural plasticity

    pub_type: 杂志文章,评审

    doi:10.1155/NP.2005.289

    authors: Savić MM,Obradović DI,Ugresić ND,Bokonjić DR

    更新日期:2005-01-01 00:00:00

  • Different Visual Weighting due to Fast or Slow Vestibular Deafferentation: Before and after Schwannoma Surgery.

    abstract:Background:Feedback postural control depends upon information from somatosensation, vision, and the vestibular system that are weighted depending on their relative importance within the central nervous system. Following loss of any sensory component, the weighting changes, e.g., when suffering a vestibular loss, the mo...

    journal_title:Neural plasticity

    pub_type: 杂志文章

    doi:10.1155/2019/4826238

    authors: Tjernström F,Fransson PA,Kahlon B,Karlberg M,Lindberg S,Siesjö P,Magnusson M

    更新日期:2019-02-18 00:00:00

  • Exposure to forced swim stress alters local circuit activity and plasticity in the dentate gyrus of the hippocampus.

    abstract::Studies have shown that, depending on its severity and context, stress can affect neural plasticity. Most related studies focused on synaptic plasticity and long-term potentiation (LTP) of principle cells. However, evidence suggests that following high-frequency stimulation, which induces LTP in principal cells, modif...

    journal_title:Neural plasticity

    pub_type: 杂志文章

    doi:10.1155/2008/194097

    authors: Yarom O,Maroun M,Richter-Levin G

    更新日期:2008-01-01 00:00:00

  • Neuroplastic effects of combined computerized physical and cognitive training in elderly individuals at risk for dementia: an eLORETA controlled study on resting states.

    abstract::The present study investigates whether a combined cognitive and physical training may induce changes in the cortical activity as measured via electroencephalogram (EEG) and whether this change may index a deceleration of pathological processes of brain aging. Seventy seniors meeting the clinical criteria of mild cogni...

    journal_title:Neural plasticity

    pub_type: 杂志文章,随机对照试验

    doi:10.1155/2015/172192

    authors: Styliadis C,Kartsidis P,Paraskevopoulos E,Ioannides AA,Bamidis PD

    更新日期:2015-01-01 00:00:00

  • Brain-Specific SNAP-25 Deletion Leads to Elevated Extracellular Glutamate Level and Schizophrenia-Like Behavior in Mice.

    abstract::Several studies have associated reduced expression of synaptosomal-associated protein of 25 kDa (SNAP-25) with schizophrenia, yet little is known about its role in the illness. In this paper, a forebrain glutamatergic neuron-specific SNAP-25 knockout mouse model was constructed and studied to explore the possible path...

    journal_title:Neural plasticity

    pub_type: 杂志文章

    doi:10.1155/2017/4526417

    authors: Yang H,Zhang M,Shi J,Zhou Y,Wan Z,Wang Y,Wan Y,Li J,Wang Z,Fei J

    更新日期:2017-01-01 00:00:00

  • Operant discriminative learning and evidence of subtelencephalic plastic changes after long-term detelencephalation in pigeons.

    abstract::We analyzed operant discrimination in detelencephalated pigeons and neuroanatomical substrates after long-term detelencephalation. In Experiment I, experimental pigeons with massive telencephalic ablation and control pigeons were conditioned to key peck for food. Successive discrimination was made under alternating re...

    journal_title:Neural plasticity

    pub_type: 杂志文章

    doi:10.1155/NP.2003.247

    authors: Cerutti SM,Diaz-Cintra S,Cintra L,Ferrari EA

    更新日期:2003-01-01 00:00:00

  • Mahuang-Fuzi-Xixin Decoction Reverses Depression-Like Behavior in LPS-Induced Mice by Regulating NLRP3 Inflammasome and Neurogenesis.

    abstract::Evidence suggests that inflammation and neurogenesis play an important role in major depressive disorder (MDD). Mahuang-Fuzi-Xixin decoction (MFX), as the traditional Chinese prescription, has been widely applied for asthma, migraine, and MDD in clinics. However, the effects of MFX on the potential mechanism in MDD ar...

    journal_title:Neural plasticity

    pub_type: 杂志文章

    doi:10.1155/2019/1571392

    authors: Jing W,Song S,Sun H,Chen Y,Zhao Q,Zhang Y,Dai G,Ju W

    更新日期:2019-11-11 00:00:00

  • Baseline Motor Impairment Predicts Transcranial Direct Current Stimulation Combined with Physical Therapy-Induced Improvement in Individuals with Chronic Stroke.

    abstract::Transcranial direct current stimulation (tDCS) can enhance the effect of conventional therapies in post-stroke neurorehabilitation. The ability to predict an individual's potential for tDCS-induced recovery may permit rehabilitation providers to make rational decisions about who will be a good candidate for tDCS thera...

    journal_title:Neural plasticity

    pub_type: 杂志文章

    doi:10.1155/2020/8859394

    authors: Baltar A,Piscitelli D,Marques D,Shirahige L,Monte-Silva K

    更新日期:2020-11-25 00:00:00

  • Inhibition of NLRP3 Inflammasome Ameliorates Cerebral Ischemia-Reperfusion Injury in Diabetic Mice.

    abstract::Sustained activation of NLRP3 inflammasome is closely related to diabetes and stroke. However, it is unknown whether NLRP3 inflammasome plays an essential role in stroke in diabetes. We aim to investigate the effect and the potential mechanism of NLRP3 inflammasome in diabetic mice with cerebral ischemia-reperfusion i...

    journal_title:Neural plasticity

    pub_type: 杂志文章

    doi:10.1155/2018/9163521

    authors: Hong P,Li FX,Gu RN,Fang YY,Lai LY,Wang YW,Tao T,Xu SY,You ZJ,Zhang HF

    更新日期:2018-04-24 00:00:00

  • Role of Astrocytic Dysfunction in the Pathogenesis of Parkinson's Disease Animal Models from a Molecular Signaling Perspective.

    abstract::Despite the fact that astrocytes are the most abundant glial cells, critical for brain function, few studies have dealt with their possible role in neurodegenerative diseases like Parkinson's disease (PD). This article explores relevant evidence on the involvement of astrocytes in experimental PD neurodegeneration fro...

    journal_title:Neural plasticity

    pub_type: 杂志文章,评审

    doi:10.1155/2020/1859431

    authors: Udovin L,Quarracino C,Herrera MI,Capani F,Otero-Losada M,Perez-Lloret S

    更新日期:2020-02-07 00:00:00

  • Translational approach to behavioral learning: lessons from cerebellar plasticity.

    abstract::The role of cerebellar plasticity has been increasingly recognized in learning. The privileged relationship between the cerebellum and the inferior olive offers an ideal circuit for attempting to integrate the numerous evidences of neuronal plasticity into a translational perspective. The high learning capacity of the...

    journal_title:Neural plasticity

    pub_type: 杂志文章,评审

    doi:10.1155/2013/853654

    authors: Cheron G,Dan B,Márquez-Ruiz J

    更新日期:2013-01-01 00:00:00

  • Dopaminergic Modulation of Striatal Inhibitory Transmission and Long-Term Plasticity.

    abstract::Dopamine (DA) modulates glutamatergic synaptic transmission and its plasticity in the striatum; however it is not well known how DA modulates long-term plasticity of striatal GABAergic inhibitory synapses. This work focused on the analysis of both dopaminergic modulation of inhibitory synapses and the synaptic plastic...

    journal_title:Neural plasticity

    pub_type: 杂志文章

    doi:10.1155/2015/789502

    authors: Nieto Mendoza E,Hernández Echeagaray E

    更新日期:2015-01-01 00:00:00

  • Stimulus- and Neural-Referred Visual Receptive Field Properties following Hemispherectomy: A Case Study Revisited.

    abstract::Damage to the visual system can result in (a partial) loss of vision, in response to which the visual system may functionally reorganize. Yet the timing, extent, and conditions under which this occurs are not well understood. Hence, studies in individuals with diverse congenital and acquired conditions and using vario...

    journal_title:Neural plasticity

    pub_type: 杂志文章

    doi:10.1155/2019/6067871

    authors: Halbertsma HN,Haak KV,Cornelissen FW

    更新日期:2019-09-03 00:00:00

  • Sortilin-Related Receptor Expression in Human Neural Stem Cells Derived from Alzheimer's Disease Patients Carrying the APOE Epsilon 4 Allele.

    abstract::Alzheimer's disease (AD) is the most common form of dementia in the elderly; important risk factors are old age and inheritance of the apolipoprotein E4 (APOE4) allele. Changes in amyloid precursor protein (APP) binding, trafficking, and sorting may be important AD causative factors. Secretase-mediated APP cleavage pr...

    journal_title:Neural plasticity

    pub_type: 杂志文章

    doi:10.1155/2017/1892612

    authors: Zollo A,Allen Z,Rasmussen HF,Iannuzzi F,Shi Y,Larsen A,Maier TJ,Matrone C

    更新日期:2017-01-01 00:00:00

  • Phosphorylation of CRMP2 by Cdk5 Regulates Dendritic Spine Development of Cortical Neuron in the Mouse Hippocampus.

    abstract::Proper density and morphology of dendritic spines are important for higher brain functions such as learning and memory. However, our knowledge about molecular mechanisms that regulate thedevelopment and maintenance of dendritic spines is limited. We recently reported that cyclin-dependent kinase 5 (Cdk5) is required f...

    journal_title:Neural plasticity

    pub_type: 杂志文章

    doi:10.1155/2016/6790743

    authors: Jin X,Sasamoto K,Nagai J,Yamazaki Y,Saito K,Goshima Y,Inoue T,Ohshima T

    更新日期:2016-01-01 00:00:00

  • Inhibition of Hyperpolarization-Activated Cation Current in Medium-Sized DRG Neurons Contributed to the Antiallodynic Effect of Methylcobalamin in the Rat of a Chronic Compression of the DRG.

    abstract::Recently several lines of evidence demonstrated that methylcobalamin (MeCbl) might have potential analgesic effect in experimental and clinical studies. However, it was reported that MeCbl had no effect on treating lumbar spinal stenosis induced pain. Thus, the effects of short-term and long-term administration of MeC...

    journal_title:Neural plasticity

    pub_type: 杂志文章

    doi:10.1155/2015/197392

    authors: Zhang M,Han W,Zheng J,Meng F,Jiao X,Hu S,Xu H

    更新日期:2015-01-01 00:00:00

  • Developmental Changes in Sleep Oscillations during Early Childhood.

    abstract::Although quantitative analysis of the sleep electroencephalogram (EEG) has uncovered important aspects of brain activity during sleep in adolescents and adults, similar findings from preschool-age children remain scarce. This study utilized our time-frequency method to examine sleep oscillations as characteristic feat...

    journal_title:Neural plasticity

    pub_type: 杂志文章

    doi:10.1155/2017/6160959

    authors: Olbrich E,Rusterholz T,LeBourgeois MK,Achermann P

    更新日期:2017-01-01 00:00:00

  • Postural dysfunction in children with cerebral palsy: some implications for therapeutic guidance.

    abstract::Postural problems play a central role in the motor dysfunction of children with cerebral palsy (CP). Therefore, they spend more time in sitting than in standing to perform vital tasks of daily life. The focus of this article is to describe the pathophysiology of postural control in sitting and outline some implication...

    journal_title:Neural plasticity

    pub_type: 杂志文章,评审

    doi:10.1155/NP.2005.221

    authors: Carlberg EB,Hadders-Algra M

    更新日期:2005-01-01 00:00:00

  • Contribution of Short-Time Occlusion of the Amblyopic Eye to a Passive Dichoptic Video Treatment for Amblyopia beyond the Critical Period.

    abstract::Dichoptic movie viewing has been shown to significantly improve visual acuity in amblyopia in children. Moreover, short-term occlusion of the amblyopic eye can transiently increase its contribution to binocular fusion in adults. In this study, we first asked whether dichoptic movie viewing could improve the visual fun...

    journal_title:Neural plasticity

    pub_type: 杂志文章

    doi:10.1155/2019/6208414

    authors: Sauvan L,Stolowy N,Denis D,Matonti F,Chavane F,Hess RF,Reynaud A

    更新日期:2019-08-28 00:00:00

  • Effects of Transcranial Alternating Current Stimulation on Cognitive Functions in Healthy Young and Older Adults.

    abstract::Recently, transcranial alternating current stimulation (tACS) has emerged as a tool to enhance human cognitive processes. Here, we provide a brief summary of the rationale behind tACS-induced effects on task-relevant brain oscillations and associated cognitive functions and review previous studies in young subjects th...

    journal_title:Neural plasticity

    pub_type: 杂志文章,随机对照试验

    doi:10.1155/2016/4274127

    authors: Antonenko D,Faxel M,Grittner U,Lavidor M,Flöel A

    更新日期:2016-01-01 00:00:00

  • Spatial Integration of Somatosensory Inputs during Sensory-Motor Plasticity Phenomena Is Normal in Focal Hand Dystonia.

    abstract:Background:Surround inhibition is a system that sharpens sensation by creating an inhibitory zone around the central core of activation. In the motor system, this mechanism probably contributes to the selection of voluntary movements, and it seems to be lost in dystonia. Objectives. To explore if sensory information is...

    journal_title:Neural plasticity

    pub_type: 杂志文章

    doi:10.1155/2018/4135708

    authors: Terranova C,Rizzo V,Morgante F,Maggio R,Calamuneri A,Chillemi G,Girlanda P,Quartarone A

    更新日期:2018-10-10 00:00:00

  • The effects of early-life predator stress on anxiety- and depression-like behaviors of adult rats.

    abstract::Childhood emotional trauma contributes significantly to certain psychopathologies, such as post-traumatic stress disorder. In experimental animals, however, whether or not early-life stress results in behavioral abnormalities in adult animals still remains controversial. Here, we investigated both short-term and long-...

    journal_title:Neural plasticity

    pub_type: 杂志文章

    doi:10.1155/2014/163908

    authors: Chen LJ,Shen BQ,Liu DD,Li ST

    更新日期:2014-01-01 00:00:00

  • Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.

    abstract::Hearing impairment is one of the most common sensory disease, of which more than 50% is attributed to a genetic etiology. The goal of this research is to explore the genetic cause of a Chinese deafness pedigree who was excluded of GJB2, SLC26A4, or MtDNA12SrRNA variants. Three variants, c.3971C>A (p.A1324D), c.4011ins...

    journal_title:Neural plasticity

    pub_type: 杂志文章

    doi:10.1155/2018/5898025

    authors: Zhang F,Xu L,Xiao Y,Li J,Bai X,Wang H

    更新日期:2018-04-05 00:00:00

  • Auditory stimulation dishabituates olfactory responses via noradrenergic cortical modulation.

    abstract::Dishabituation is a return of a habituated response if context or contingency changes. In the mammalian olfactory system, metabotropic glutamate receptor mediated synaptic depression of cortical afferents underlies short-term habituation to odors. It was hypothesized that a known antagonistic interaction between these...

    journal_title:Neural plasticity

    pub_type: 杂志文章

    doi:10.1155/2009/754014

    authors: Smith JJ,Shionoya K,Sullivan RM,Wilson DA

    更新日期:2009-01-01 00:00:00

  • Noise Exposure Alters Glutamatergic and GABAergic Synaptic Connectivity in the Hippocampus and Its Relevance to Tinnitus.

    abstract::Accumulating evidence implicates a role for brain structures outside the ascending auditory pathway in tinnitus, the phantom perception of sound. In addition to other factors such as age-dependent hearing loss, high-level sound exposure is a prominent cause of tinnitus. Here, we examined how noise exposure altered the...

    journal_title:Neural plasticity

    pub_type: 杂志文章

    doi:10.1155/2021/8833087

    authors: Zhang L,Wu C,Martel DT,West M,Sutton MA,Shore SE

    更新日期:2021-01-14 00:00:00

  • Visual Timing of Structured Dance Movements Resembles Auditory Rhythm Perception.

    abstract::Temporal mechanisms for processing auditory musical rhythms are well established, in which a perceived beat is beneficial for timing purposes. It is yet unknown whether such beat-based timing would also underlie visual perception of temporally structured, ecological stimuli connected to music: dance. In this study, we...

    journal_title:Neural plasticity

    pub_type: 杂志文章

    doi:10.1155/2016/1678390

    authors: Su YH,Salazar-López E

    更新日期:2016-01-01 00:00:00

  • Transcranial Direct Current Stimulation (tDCS) in Unilateral Cerebral Palsy: A Pilot Study of Motor Effect.

    abstract::Transcranial Direct Current Stimulation (tDCS) is an emerging tool to improve upper limb motor functions after stroke acquired in adulthood; however, there is a paucity of reports on its efficacy for upper limb motor rehabilitation in congenital or early-acquired stroke. In this pilot study we have explored, for the f...

    journal_title:Neural plasticity

    pub_type: 杂志文章,随机对照试验

    doi:10.1155/2019/2184398

    authors: Inguaggiato E,Bolognini N,Fiori S,Cioni G

    更新日期:2019-01-15 00:00:00

  • In Sickness and in Health: Perineuronal Nets and Synaptic Plasticity in Psychiatric Disorders.

    abstract::Rapidly emerging evidence implicates perineuronal nets (PNNs) and extracellular matrix (ECM) molecules that compose or interact with PNNs, in the pathophysiology of several psychiatric disorders. Studies on schizophrenia, autism spectrum disorders, mood disorders, Alzheimer's disease, and epilepsy point to the involve...

    journal_title:Neural plasticity

    pub_type: 杂志文章,评审

    doi:10.1155/2016/9847696

    authors: Pantazopoulos H,Berretta S

    更新日期:2016-01-01 00:00:00

  • Correlated Resting-State Functional MRI Activity of Frontostriatal, Thalamic, Temporal, and Cerebellar Brain Regions Differentiates Stroke Survivors with High Compared to Low Depressive Symptom Scores.

    abstract:Background:One in three survivors of stroke experience poststroke depression (PSD). PSD has been linked with poorer recovery of function and cognition, yet our understanding of potential mechanisms is currently limited. Alterations in resting-state functional MRI have been investigated to a limited extent. Fluctuations...

    journal_title:Neural plasticity

    pub_type: 杂志文章

    doi:10.1155/2019/2357107

    authors: Goodin P,Lamp G,Vidyasagar R,Connelly A,Rose S,Campbell BCV,Tse T,Ma H,Howells D,Hankey GJ,Davis S,Donnan G,Carey LM

    更新日期:2019-07-28 00:00:00

  • Afferent connections to the rostrolateral part of the periaqueductal gray: a critical region influencing the motivation drive to hunt and forage.

    abstract::Previous studies have shown that a particular site in the periaqueductal gray (PAG), the rostrolateral PAG, influences the motivation drive to forage or hunt. To have a deeper understanding on the putative paths involved in the decision-making process between foraging, hunting, and other behavioral responses, in the p...

    journal_title:Neural plasticity

    pub_type: 杂志文章

    doi:10.1155/2009/612698

    authors: Mota-Ortiz SR,Sukikara MH,Felicio LF,Canteras NS

    更新日期:2009-01-01 00:00:00