A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment
about
A frameshift mutation in GRXCR2 causes recessively inherited hearing lossGenetics of Nonsyndromic Congenital Hearing LossVoltage-Gated Cav1 Channels in Disorders of Vision and HearingHair cells use active zones with different voltage dependence of Ca2+ influx to decompose sounds into complementary neural codes.Localization and expression of CaBP1/caldendrin in the mouse brain.Whole-exome sequencing and its impact in hereditary hearing lossWalking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.More than a pore: ion channel signaling complexesExpression and Localization of CaBP Ca2+ Binding Proteins in the Mouse Cochlea.Cell-type-specific tuning of Cav1.3 Ca(2+)-channels by a C-terminal automodulatory domain.Competitive and non-competitive regulation of calcium-dependent inactivation in CaV1.2 L-type Ca2+ channels by calmodulin and Ca2+-binding protein 1Lack of CaBP1/Caldendrin or CaBP2 Leads to Altered Ganglion Cell Responses.Sense and specificity in neuronal calcium signalling.Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness.Decalmodulation of Cav1 channels by CaBPs.Features of autosomal recessive non-syndromic hearing impairment: a review to serve as a reference.Targeting voltage-gated calcium channels in neurological and psychiatric diseases.A comprehensive catalogue of the coding and non-coding transcripts of the human inner ear.Auditory neuropathy--neural and synaptic mechanisms.Biological therapies in otology.Ca2+-binding protein 2 inhibits Ca2+-channel inactivation in mouse inner hair cells.The synaptic ribbon is critical for sound encoding at high rates and with temporal precision.Genetic Linkage Analysis of DFNB4, DFNB28, DFNB93 Loci in Autosomal Recessive Non-syndromic Hearing Loss: Evidence for Digenic Inheritance in GJB2 and GJB3 Mutations.[Biological therapies in otology. German version].CaBP1 regulates Cav1 L-type Ca2+ channels and their coupling to neurite growth and gene transcription in mouse spiral ganglion neurons.Ca2+-Binding Protein 1 Regulates Hippocampal-dependent Memory and Synaptic Plasticity.Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.Molecular parallelism in fast-twitch muscle proteins in echolocating mammals
P2860
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P2860
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
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2012年学术文章
@zh-cn
2012年学术文章
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2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
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2012年學術文章
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name
A mutation in CABP2, expressed ...... l-recessive hearing impairment
@ast
A mutation in CABP2, expressed ...... l-recessive hearing impairment
@en
type
label
A mutation in CABP2, expressed ...... l-recessive hearing impairment
@ast
A mutation in CABP2, expressed ...... l-recessive hearing impairment
@en
prefLabel
A mutation in CABP2, expressed ...... l-recessive hearing impairment
@ast
A mutation in CABP2, expressed ...... l-recessive hearing impairment
@en
P2093
P2860
P50
P1476
A mutation in CABP2, expressed ...... l-recessive hearing impairment
@en
P2093
Akira Inagaki
Annelies Dheedene
Celia Zazo Seco
Charlotte Claes
Erik Fransen
Friederike Predoehl
Hannie Kremer
Jaap Oostrik
Manou Sommen
Maria Magdalena Picher
P2860
P304
P356
10.1016/J.AJHG.2012.08.018
P407
P577
2012-09-13T00:00:00Z