Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.

Abstract:

:Since the first identification of an association between mutations in the connexin26 (Cx26) gene and autosomal recessive non-syndromic deafness it has been shown that several mutations in this gene cause recessive, sporadic, and dominant non-syndromic deafness. Three novel mutations in the Cx26 gene were identified in four of 20 Japanese families with autosomal recessive non-syndromic deafness. Seven of 40 chromosomes contained a 233delC allele, while Tyr136Stop (408C-->A) and Gly45Glu (134G-->A) were detected in two of 40 chromosomes, respectively. These mutations were not found in chromosomes in cases of sporadic congenital deafness (0/60) or in control groups (0/100). This indicates that 27.5% (11/40 chromosomes) of cases of autosomal recessive non-syndromic deafness among the Japanese are caused by mutations in the Cx26 gene.

journal_name

Neuroreport

journal_title

Neuroreport

authors

Fuse Y,Doi K,Hasegawa T,Sugii A,Hibino H,Kubo T

doi

10.1097/00001756-199906230-00010

subject

Has Abstract

pub_date

1999-06-23 00:00:00

pages

1853-7

issue

9

eissn

0959-4965

issn

1473-558X

journal_volume

10

pub_type

杂志文章
  • Alterations of functional connectivity between thalamus and cortex before and after decompression in cervical spondylotic myelopathy patients: a resting-state functional MRI study.

    abstract:OBJECTIVE:Cervical spondylotic myelopathy is regarded as a chronic, special incomplete spinal cord injury, so the sensory components transmitted to thalamus decreased after distal spinal cord injury, which lead the disturbance of thalamus-cortex circuits, which might explain the alterations of clinical function of cerv...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/WNR.0000000000001346

    authors: Peng X,Tan Y,He L,Ou Y

    更新日期:2020-03-25 00:00:00

  • Effects of adrenalectomy on hyperphagia induced by the 5-HT1A receptor agonist 8-OH-DPAT and 2-deoxy-D-glucose in rats.

    abstract::Effects of adrenalectomy on the 5-HT1A receptor agonist 8-hydroxy-2-di-n-(propylamino)tetralin (8-OH-DPAT)- and 2-deoxy-D-glucose (2-DG)-induced hyperphagia were investigated in rats. Prior adrenalectomy completely inhibited 2-DG-induced hyperphagia, although it did not affect increases in food intake elicited by 8-OH...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/00001756-199806010-00030

    authors: Yamada J,Sugimoto Y,Yoshikawa T

    更新日期:1998-06-01 00:00:00

  • Involvement of CRF2 receptor in the brain regions in restraint-induced anorexia.

    abstract::We have reported that corticotropin-releasing factor (CRF) receptor subtypes, CRF1 and CRF2, are involved in stress-induced anorexia. To clarify in which brain regions the CRF receptor is involved in mediating stress-induced anorexia, we examined the effect of microinjecting CRF1-selective or CRF2-selective antagonist...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/WNR.0b013e3283487467

    authors: Ohata H,Shibasaki T

    更新日期:2011-07-13 00:00:00

  • Effects of ensheathing cells transplanted into photochemically damaged spinal cord.

    abstract::Transplantation of olfactory ensheathing cells (OECs) into photochemically damaged rat spinal cord diminished astrocyte reactivity and parenchyma cavitation. The photochemical lesion performed at T12--L1 resulted in severe damage to the spinal cord, so that during the first 15 days postoperation all rats dragged their...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/00001756-200108080-00005

    authors: Verdú E,García-Alías G,Forés J,Gudiño-Cabrera G,Muñetón VC,Nieto-Sampedro M,Navarro X

    更新日期:2001-08-08 00:00:00

  • Transneuronal viral labelling of rat heart left ventricle controlling pathways.

    abstract::Retrograde transneuronal viral labelling and immunocytochemical methods were used for revealing neuronal networks controlling the left ventricle myocardium of the rat heart. After injections of 1 microliter pseudorabies virus solution (3 x 10(6) PFU ml-1) into the left ventricle, infected orthosympathetic preganglioni...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/00001756-199309150-00005

    authors: Ter Horst GJ,Van den Brink A,Homminga SA,Hautvast RW,Rakhorst G,Mettenleiter TC,De Jongste MJ,Lie KI,Korf J

    更新日期:1993-09-30 00:00:00

  • Mouse hippocampo-prefrontal paired-pulse facilitation and long-term potentiation in vivo.

    abstract::To confirm neural plasticity of the mouse hippocampo-prefrontal cortex (PFC) pathway, paired-pulse facilitation (PPF) and long-term potentiation (LTP) induction were determined in the pathway. In addition, we tested whether the plasticity differs in projections of the pathway from the dorsal (upper) and ventral (lower...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/00001756-200105080-00028

    authors: Izaki Y,Takita M,Nomura M

    更新日期:2001-05-08 00:00:00

  • Erythropoietin protects cerebrocortical neurons from HIV-1/gp120-induced damage.

    abstract::Infection with human immunodeficiency virus (HIV)-1 can lead to neurological complications that range from mild cognitive and motor impairment to HIV-associated dementia (HAD). The mechanism of brain injury and dementia remains poorly understood. Interestingly, post mortem brain specimen from HAD patients and transgen...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/00001756-200404090-00004

    authors: Digicaylioglu M,Kaul M,Fletcher L,Dowen R,Lipton SA

    更新日期:2004-04-09 00:00:00

  • Activation of GABA rho 1 receptors by glycine and beta-alanine.

    abstract::Neurons of the vertebrate retina possess receptors for many neurotransmitters. Particularly interesting is a new type of GABA receptor (GABA rho) that, in contrast to GABAA and GABAB receptors, shows very little desensitization, is not blocked by bicuculline, and is not activated by baclofen. Homomeric human GABA rho ...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/00001756-199505300-00011

    authors: Calvo DJ,Miledi R

    更新日期:1995-05-30 00:00:00

  • Tannic acid inhibits electrogenic Na+/HCO3- co-transporter activity in embryonic neural stem cell-derived radial glial-like cells.

    abstract::Self-renewing neural stem cells and progenitor cells are cell populations that generate radial glial cells and neurons through asymmetric division. Regulation of intracellular pH in stem cells with high metabolic activity is critical for both cell signaling and proliferation. We have recently found that a S0859-inhibi...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/WNR.0000000000001372

    authors: Nordström T,Zhenyu G,Andersson LC,Åkerman KEO

    更新日期:2020-01-08 00:00:00

  • Correlations, feature-binding and population coding in primary visual cortex.

    abstract::To test the hypothesis that correlated neuronal activity serves as the neuronal code for visual feature binding, we applied information theory techniques to multiunit activity recorded from pairs of V1 recording sites in anaesthetised cats while presenting either single or separate bar stimuli. We quantified the roles...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/01.wnr.0000073681.00308.9c

    authors: Golledge HD,Panzeri S,Zheng F,Pola G,Scannell JW,Giannikopoulos DV,Mason RJ,Tovée MJ,Young MP

    更新日期:2003-05-23 00:00:00

  • Involvement of progranulin in the enhancement of hippocampal neurogenesis by voluntary exercise.

    abstract::We have previously suggested that progranulin mediates the stimulatory effects of estrogen on adult neurogenesis in the hippocampus. Neurogenesis in mature animals is enhanced by growth factors, environmental enrichment, and voluntary exercise. In this study, we investigated the role of progranulin in voluntary runnin...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/WNR.0b013e32834bf4ca

    authors: Asakura R,Matsuwaki T,Shim JH,Yamanouchi K,Nishihara M

    更新日期:2011-12-07 00:00:00

  • Perception and recognition discriminated in the mouse auditory cortex by c-Fos labeling.

    abstract::The functions of the fields of the mammalian auditory cortex in sound perception and recognition are unknown. We used Fos (a protein of the inducible immediate-early gene c-fos) as a cellular marker of activated brain areas to show in the mouse (Mus domesticus) that sound is processed differentially in auditory cortic...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/00001756-199908020-00022

    authors: Fichtel I,Ehret G

    更新日期:1999-08-02 00:00:00

  • MPTP induces alpha-synuclein aggregation in the substantia nigra of baboons.

    abstract::1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) neurotoxicity reproduces many of the features of Parkinson's disease (PD). alpha-Synuclein has been identified as a prominent component of the Lewy body (LB), the pathological hallmark of PD. MPTP-treated primates have been reported to develop intraneuronal inclusion...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/00001756-200001170-00041

    authors: Kowall NW,Hantraye P,Brouillet E,Beal MF,McKee AC,Ferrante RJ

    更新日期:2000-01-17 00:00:00

  • Long-term morphine treatment increases Ku protein DNA end-binding activity.

    abstract::Human neuroblastoma SH-SY5Y and small-cell lung carcinoma U1690 cells of neuroendocrine origin were exposed to morphine for 1 h, 3 h or 5 days. These treatments did not alter activities of AP-1, NF-kappa B and YY1 transcription factors in SH-SY5Y cells or NF-kappa B and YY1 in U1690 cells. Five-day morphine treatment,...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:

    authors: Bakalkin G,Yakovleva T,Melzig M,Terenius L

    更新日期:1997-07-07 00:00:00

  • Lesion-induced right-hemispheric language and organization of nonverbal functions.

    abstract::Early left-hemispheric brain lesions may lead to a reorganization of language into the right hemisphere. Language functions are consecutively spared, but visuospatial functions show slight deficits. Cortical 'crowding' of the right hemisphere has been suggested as an explanation for this effect, but no direct evidence...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/01.wnr.0000221841.12632.d6

    authors: Lidzba K,Staudt M,Wilke M,Grodd W,Krägeloh-Mann I

    更新日期:2006-06-26 00:00:00

  • Ontogeny of two different benzodiazepine binding sites in the chick optic lobe.

    abstract::The developmental time-course of type I and type II benzodiazepine receptors in the chick optic lobe was determined using a triazolopyridazine, CL 218872. At embryonic day 13 most of the binding sites corresponded to type II (98.23%), while type I represented only a minor proportion (1.77%). During development there w...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/00001756-199510010-00015

    authors: Gravielle MC,de Plazas SF

    更新日期:1995-10-23 00:00:00

  • Phospholipase A2-induced changes in AMPA receptor: an autoradiographic study.

    abstract::The expression of long-term potentiation and learning of a classical conditioning task increase [3H]-AMPA binding in hippocampus. Phospholipase A2 (PLA2) has been proposed to underly these changes, as PLA2 treatment of membrane preparations increases the affinity of AMPA receptors for agonists. We demonstrate here tha...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:

    authors: Tocco G,Massicotte G,Standley S,Thompson RF,Baudry M

    更新日期:1992-06-01 00:00:00

  • Reduced immunoreactivity of adenylyl cyclase in dementia of the Alzheimer type.

    abstract::The amounts of three adenylyl cyclase (AC) subtypes in membranes from brain obtained post-mortem from patients with dementia of Alzheimer type (DAT) and controls were studied by Western blotting using polyclonal antibodies. AC subtypes were characterized by preabsorption by complementary peptides, species difference, ...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/00001756-199611250-00033

    authors: Yamamoto M,Ozawa H,Saito T,Frölich L,Riederer P,Takahata N

    更新日期:1996-11-25 00:00:00

  • Late developmental deficits in force control in children with hemiplegia.

    abstract::Differences related to development were investigated using a finger isometric force task in children with cerebral palsy and control children. The increase in force and force control observed in controls did not take place in patients. In the younger subset of patients (< 10 years) the force produced by the non-affect...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/00001756-200408260-00020

    authors: Smits-Engelsman BC,Rameckers EA,Duysens J

    更新日期:2004-08-26 00:00:00

  • An event-related potential investigation of spatial attention orientation in children trained with mental abacus calculation.

    abstract::The objective of this study was to investigate the effects of long-term mental abacus calculation training (MACT) on children's spatial attention orientation. Fifteen children with intensive MACT (MACT group) and 15 children without MACT (non-MACT group) were selected. The two groups of children were matched in age, s...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/WNR.0000000000000705

    authors: Liu X,Sun Y

    更新日期:2017-01-01 00:00:00

  • Olfactory bulb DA receptors may be located on terminals of the olfactory nerve.

    abstract::The glomerular layer of the olfactory bulb contains a substantial population of dopaminergic neurons. We determined the quantity and location of D1 and D2 dopamine receptors which are the presumed targets of these neurons. Binding of the D1 selective ligand [3H]SCH23390 was slightly above background and was distribute...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/00001756-199101000-00002

    authors: Nickell WT,Norman AB,Wyatt LM,Shipley MT

    更新日期:1991-01-01 00:00:00

  • Distinct anxiogenic/anxiolytic effects exerted by the hamster lateral amygdalar nucleus injected with ORX-A or ORX-B in the presence of a GABAergic agonist.

    abstract::Recently, there has been growing interest in the neurobiological role of some amygdalar neuromediators, such as GABA and orexins (ORX), that are responsible for stressful behaviors. Infusion of the major fear-related and panic-related basolateral amygdalar station, the lateral nucleus, with ORX-A and ORX-B, alone or i...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/WNR.0000000000000213

    authors: Avolio E,Biasone A,Mele M,Alò R

    更新日期:2014-08-20 00:00:00

  • Dissociation of inhibition from error processing using a parametric inhibitory task during functional magnetic resonance imaging.

    abstract::Inhibition, the process that overrides and reverses the execution of a thought, action, or emotion, is important in daily life. Sixteen healthy volunteers performed a parametrically modulated motor inhibition task during functional magnetic resonance imaging. Two results were observed: (1) increased error-related ante...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/00001756-200505120-00020

    authors: Matthews SC,Simmons AN,Arce E,Paulus MP

    更新日期:2005-05-12 00:00:00

  • Sex differences in rapid auditory processing deficits in ectopic BXSB/MpJ mice.

    abstract::Prior research with rodent models, performed predominantly in males, has demonstrated a significant association between focal neocortical malformations (e.g. ectopias and microgyria) and rate-specific auditory processing deficits. In the current study and consistent with prior findings, we report that ectopic male BXS...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/00001756-200212030-00021

    authors: Peiffer AM,Rosen GD,Fitch RH

    更新日期:2002-12-03 00:00:00

  • Combined event-related fMRI and EEG evidence for temporal-parietal cortex activation during target detection.

    abstract::Target detection is the process of bringing a salient stimulus into conscious awareness. Target detection evokes a prominent event-related potential (ERP) component (P3) in the electroencephalogram (EEG). We combined the high spatial resolution of functional magnetic resonance imaging (fMRI) with the high temporal res...

    journal_title:Neuroreport

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1097/00001756-199709290-00007

    authors: Menon V,Ford JM,Lim KO,Glover GH,Pfefferbaum A

    更新日期:1997-09-29 00:00:00

  • Role of amygdala in conditioned and unconditioned fear generated in the periaqueductal gray.

    abstract::The amygdala and ventral portion of the periaqueductal gray (vPAG) are crucial for the expression of the contextual freezing behavior. However, it is still unclear whether the amygdala also plays a role in defensive behaviors induced by electrical stimulation of the dorsal periaqueductal gray (dPAG). In the present st...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/00001756-200410050-00028

    authors: Oliveira LC,Nobre MJ,Brandão ML,Landeira-Fernandez J

    更新日期:2004-10-05 00:00:00

  • 'Theory of mind' in the brain. Evidence from a PET scan study of Asperger syndrome.

    abstract::The ability to attribute mental states to others ('theory of mind') pervades normal social interaction and is impaired in autistic individuals. In a previous positron emission tomography scan study of normal volunteers, performing a 'theory of mind' task was associated with activity in left medial prefrontal cortex. W...

    journal_title:Neuroreport

    pub_type: 临床试验,杂志文章

    doi:10.1097/00001756-199612200-00040

    authors: Happé F,Ehlers S,Fletcher P,Frith U,Johansson M,Gillberg C,Dolan R,Frackowiak R,Frith C

    更新日期:1996-12-20 00:00:00

  • Analysis of cerebellum proteomics in the hydrocephalic H-Tx rat.

    abstract::The H-Tx rat is a polygenic inherited model of hydrocephalus. In order to identify disease-specific biomarkers associated with congenital hydrocephalus, comparative proteomic analysis was used to screen cerebellum proteins in H-Tx rats at 1 day after birth. Seven proteins showed significant changes in hydrocephalic H-...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/00001756-200504250-00011

    authors: Li X,Miyajima M,Mineki R,Taka H,Murayama K,Arai H

    更新日期:2005-04-25 00:00:00

  • Anxiolytic-like actions of anpirtoline in a mouse light-dark aversion paradigm.

    abstract::The anxiolytic-like potential of anpirtoline was assessed in a mouse light/dark aversion test. Anpirtoline (1.0 ng kg(-1)-1.0 micrograms kg-1 i.p.) reduced the aversive responding of mice. This was detected as an increase in the latency to locate the non-aversive compartment and by decreases in the percentage of the t...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/00001756-199206000-00019

    authors: Metzenauer P,Barnes NM,Costall B,Gozlan H,Hamon M,Kelly ME,Murphy DA,Naylor RJ

    更新日期:1992-06-01 00:00:00

  • Neuroprotection in a rat Parkinson model by GDNF gene therapy using EIAV vector.

    abstract::Vectors based on lentiviruses are opening up new approaches for the treatment of neurodegenerative diseases. Currently, the equine infectious anaemia virus (EIAV) vector is one of the most attractive gene delivery systems with respect to neuronal tropism. The aim was to validate EIAV-lentiviral vectors as a gene deliv...

    journal_title:Neuroreport

    pub_type: 杂志文章

    doi:10.1097/00001756-200404290-00011

    authors: Azzouz M,Ralph S,Wong LF,Day D,Askham Z,Barber RD,Mitrophanous KA,Kingsman SM,Mazarakis ND

    更新日期:2004-04-29 00:00:00