Abstract：
:Mutations of the otoferlin gene have been shown to underlie deafness disorders in humans and mice. Analyses of genetically engineered mice lacking otoferlin have demonstrated an essential role for this protein in vesicle exocytosis at the inner hair cell afferent synapse. Here, we report on the molecular and phenotypic characterization of a new ENU-induced missense mutation of the mouse otoferlin gene designated Otof(deaf5Jcs). The mutation is a single T to A base substitution in exon 10 of Otof that causes a non-conservative amino acid change of isoleucine to asparagine in the C2B domain of the protein. Although strong immunoreactivity with an otoferlin-specific antibody was detected in cochlear hair cells of wildtype mice, no expression was detected in mutant mice, indicating that the missense mutation has a severe effect on the stability of the protein and potentially its localization. Auditory brainstem response (ABR) analysis demonstrated that mice homozygous for the missense mutation are profoundly deaf, consistent with an essential role for otoferlin in inner hair cell neurotransmission. Vestibular-evoked potentials (VsEPs) of mutant mice, however, were equivalent to those of wildtype mice, indicating that otoferlin is unnecessary for vestibular function even though it is highly expressed in both vestibular and cochlear hair cells.
journal_name
Hear Resjournal_title
Hearing researchauthors
Longo-Guess C,Gagnon LH,Bergstrom DE,Johnson KRdoi
10.1016/j.heares.2007.09.005subject
Has Abstractpub_date
2007-12-01 00:00:00pages
21-8issue
1-2eissn
0378-5955issn
1878-5891pii
S0378-5955(07)00214-6journal_volume
234pub_type
杂志文章相关文献
HEARING RESEARCH文献大全abstract：:Blind cave fish use the lateral line sensory system to detect nearby objects. The fish responds to sudden perturbations in the water column by initiating startle responses in which they swim more rapidly. Normal startle responses disappear after trauma caused by a single 15 s immersion in calcium free water, but retur...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/s0378-5955(01)00226-x
更新日期：2001-04-01 00:00:00
abstract：:Several lines of evidence implicate a neurotransmitter/modulator role for ATP in the cochlea. Most of the work supporting such a notion has been accomplished using in vitro preparations of sensory hair cells or other cochlear tissues. Little is known regarding the functional consequences of ATP receptor activation in ...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/0378-5955(94)90091-4
更新日期：1994-06-01 00:00:00
abstract：:The distribution of calcitonin gene-related peptide immunoreactivity (CGRPi) within efferent vestibular neurons in the chinchilla was investigated using fluorescent retrograde labeling combined with immunohistochemistry. Efferent vestibular neurons were found bilaterally in clusters: dorsolateral (group E1) and medial...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/s0378-5955(96)80011-6
更新日期：1996-08-01 00:00:00
abstract：:A novel immunocytochemical method was used to determine whether the sound-damaged adult quail ear can repair its tectorial membrane (TM) and to compare the repair in quail to that in chicks. Birds were exposed to an octave band noise with a center frequency of 1.5 kHz at 116 dB SPL for 4 h. The chicks were grouped bas...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/0378-5955(95)00051-5
更新日期：1995-06-01 00:00:00
abstract：:Membrane-bound guanylyl cyclases (GCs) are peptide hormone receptors whereas the cytosolic isoforms are receptors for nitric oxide. In the inner ear, the membrane-bound GCs may be involved in the regulation of fluid homeostasis and the cytosolic forms possibly play a role in signal processing and regulation of local b...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/s0378-5955(98)00176-2
更新日期：1999-01-01 00:00:00
abstract：BACKGROUND:Recently, in vitro and in vivo models have identified that microRNAs (miRNAs), which are extensively expressed in the inner ear, play important roles in inner ear development and function. However, the function of miRNA in vertebrate tissue is not well understood. RESULTS:The current study used an in vitro ...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/j.heares.2012.02.005
更新日期：2012-04-01 00:00:00
abstract：:We have injected by iontophoresis 4-amino-pyridine, a K+ channel blocker and BAPTA, (a Ca++ chelator), into scala media of the first three turns of the guinea pig cochlea. We measured the reduction in outer hair cell (OHC) receptor current, as indicated by cochlear microphonic measured in scala media evoked by a 207 H...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/j.heares.2005.05.016
更新日期：2006-01-01 00:00:00
abstract：:During injection of artificial endolymph into scala media of the guinea pig, fluid pressure was simultaneously measured in endolymph and perilymph with micropipettes. Pressure differences in the order of 10 Pa could reproducibly be measured upon injection of 2-4 microl of artificial endolymph with a rate of 50 nl/s. I...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/s0378-5955(00)00078-2
更新日期：2000-07-01 00:00:00
abstract：:Proteomic analysis of cadaveric formalin-fixed, celloidin-embedded (FFCE) temporal bone tissue has the potential to provide new insights into inner ear disorders. We have developed a liquid chromatography-mass spectrometry (LC-MS) method for tissue sections embedded with celloidin. Q-TOF (Quadrupole-time of flight mas...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/j.heares.2010.08.003
更新日期：2010-12-01 00:00:00
abstract：:Laser Doppler vibrometry was used to measure the sound-induced tympanic membrane (TM) velocity, assessed near the umbo, in 56 normal hearing human subjects at nine sound frequencies. A second series of measurements was made in 47 subjects with sensorineural hearing loss (SNHL). Each set of measurements has features in...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/s0378-5955(03)00332-0
更新日期：2004-01-01 00:00:00
abstract：:Older adults, even with clinically normal hearing sensitivity, have auditory perceptual deficits relative to their younger counterparts. This difficulty may in part, be related to a decline in the neural representation of frequency. The purpose of this study was to examine the effect of age on behavioral and physiolog...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/j.heares.2009.11.010
更新日期：2010-06-01 00:00:00
abstract：:Cochlear implant recipients show improved speech perception and music appreciation when residual acoustic hearing is combined with the cochlear implant. However, up to one third of patients lose their pre-operative residual hearing weeks to months after implantation, for reasons that are not well understood. This stud...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/j.heares.2015.12.012
更新日期：2016-03-01 00:00:00
abstract：:Songbirds spend much of their time learning, producing, and listening to complex vocal sequences we call songs. Songs are learned via cultural transmission, and singing, usually by males, has a strong impact on the behavioral state of the listeners, often promoting affiliation, pair bonding, or aggression. What is it ...
journal_title：Hearing research
pub_type： 杂志文章,评审
doi：10.1016/j.heares.2013.08.016
更新日期：2014-02-01 00:00:00
abstract：:The superior olivary complex (SOC) is a cluster of nuclei situated in the caudal brainstem tegmentum that forms an essential component of the auditory pathway. The SOC includes two principal nuclei, the medial and lateral superior olives (MSO and LSO respectively), that have clear roles in sound source localization. S...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/j.heares.2008.04.010
更新日期：2008-07-01 00:00:00
abstract：:Harmonic complex tones are a particularly important class of sounds found in both speech and music. Although these sounds contain multiple frequency components, they are usually perceived as a coherent whole, with a pitch corresponding to the fundamental frequency (F0). However, when two or more harmonic sounds occur ...
journal_title：Hearing research
pub_type： 杂志文章,评审
doi：10.1016/j.heares.2009.09.012
更新日期：2010-07-01 00:00:00
abstract：:The scalp distributions of middle latency auditory evoked potentials (MAEPs) elicited by tone bursts of 250 and 4000 Hz were compared in two experiments. Na (19.9 ms), Pa (29.8 ms), and Pb (51.4 ms) components elicited by tones of either frequency had fronto-central distributions, whereas the Nb component (38.4 ms) wa...
journal_title：Hearing research
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/0378-5955(95)00035-3
更新日期：1995-05-01 00:00:00
abstract：:Distortion-product emissions at 2f1-f2 were measured in developing, pigmented rats to determine the characteristics of the functional onset and maturation of these emitted responses. Distortion-product testing was conducted on postnatal days 12, 14, 18, 21, 24, 28, and 51. The geometric-mean frequencies of the primari...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/0378-5955(90)90223-c
更新日期：1990-01-01 00:00:00
abstract：:Auditory thresholds were measured for 18 ears from 13 rhesus monkeys using a simple reaction-time procedure. The threshold contour was a smooth W-shaped function with rises at the extreme frequencies and around 4 kHz and was comparable in shape with previously reported thresholds for this animal. Standard deviations a...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/0378-5955(78)90008-4
更新日期：1978-10-01 00:00:00
abstract：:Electrically evoked compound action potentials (ECAPs) have been used to examine temporal response patterns of the auditory nerve in cochlear implant (CI) recipients. ECAP responses to individual pulses in a pulse train vary across stimulation rates for individual CI users. For very slow rates, auditory neurons have a...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/j.heares.2017.06.004
更新日期：2017-08-01 00:00:00
abstract：:Recently, many lines of evidence have supported the possibilities that vasopressin (VP) is closely linked to the formation of endolymphatic hydrops in Meniere's disease. In the present study, it was examined whether or not the chronic administration of VP might induce endolymphatic hydrops. For this purpose, histologi...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/s0378-5955(99)00180-x
更新日期：2000-02-01 00:00:00
abstract：:Single-unit recordings from neurons in the torus semicircularis of Rana ridibunda were analyzed to determine the degree to which these neurons can detect acoustic stimuli superimposed on continuous, broad-band noise. In the first series of trials the stimuli were tone pulses 25 ms long, 5 dB above threshold, and at th...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/0378-5955(88)90117-7
更新日期：1988-09-15 00:00:00
abstract：:Severe damage to the organ of Corti leads to degeneration of the spiral ganglion cells (SGCs) which form the auditory nerve. This degeneration starts at the level of synaptic connection of the peripheral processes (PPs) of SGCs with the cochlear hair cells. It is generally thought that from this point SGC degeneration...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/j.heares.2020.107928
更新日期：2020-05-01 00:00:00
abstract：:The latency of the N100m component of the auditory evoked field (AEF) is sensitive to the period and spectrum of a sound. However, little attention was paid so far to the wave shape at stimulus onset, which might have biased previous results. This problem was fixed in the present study by aligning the first major peak...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/j.heares.2006.01.003
更新日期：2006-03-01 00:00:00
abstract：:The membrane glycoprotein CTL2/SLC44A2 is expressed by supporting cells in the inner ear and has been identified as a target of antibodies that may induce auto-immune hearing loss. To determine if CTL2/SLC44A2 also has roles in inner ear development and to distinguish between isoform-specific roles, we assessed age-re...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/j.heares.2011.09.004
更新日期：2011-12-01 00:00:00
abstract：:In previous studies describing the effects of electrically stimulating the olivocochlear bundle, it seems possible that both medial and lateral (MOC and LOC) efferents may have been stimulated. To selectively stimulate MOC efferents, we used an electrode placed at the origin of the MOC efferents in the brainstem (MOC ...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/0378-5955(88)90023-8
更新日期：1988-05-01 00:00:00
abstract：:This study addressed the hypotheses that the growth of the level of distortion product otoacoustic emissions (LDP) with primary-tone level reflects the behavior of a third-order nonlinear polynomial system, and that two sources exist for these distortion products. The results indicated that the 2f1-f2 otoacoustic emis...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/0378-5955(93)90016-t
更新日期：1993-12-01 00:00:00
abstract：:Recent measurements of vibrational motion to assess sound transmission through ear structures and skull contents have included three-dimensional (3D) behavior. The 3D motion of a point has been described with the three orthogonal components in the 3D space. In this article, a method to represent the 3D velocity with t...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/j.heares.2018.03.022
更新日期：2018-07-01 00:00:00
abstract：:To estimate the correlation between the cochlear lateral wall and endocochlear potential (EP), the EP was measured at different time intervals up to 3 weeks at cochlear focal lesions made in the guinea pig. Lesions were produced by a photochemical reaction between systemically administered Rose Bengal and green light ...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/s0378-5955(98)00204-4
更新日期：1999-02-01 00:00:00
abstract：:The presence of dopamine (DA) within the cochlea has been previously reported, indicating that its turnover increases under noise stimulation. In the present report, piribedil, a dopaminergic D2 agonist, was used in order to provide evidence of the activity of D2 receptors in the turnover of DA under noise stimulation...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/0378-5955(94)90138-4
更新日期：1994-09-01 00:00:00
abstract：:Cyclic histograms of the responses of single auditory ganglion cells in the guinea pig were recorded during stimulation with amplitude modulated tones. Modulation frequencies ranged from 10 Hz to 800 Hz. The response histograms, phase-locked to the modulation signals, were analysed for mean action potential rate and f...
journal_title：Hearing research
pub_type： 杂志文章
doi：10.1016/0378-5955(87)90003-7
更新日期：1987-01-01 00:00:00
