A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.
about
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F geneHigh-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate geneThe Use of Induced Pluripotent Stem Cell Technology to Advance Autism Research and TreatmentVoltage-Gated Cav1 Channels in Disorders of Vision and HearingEffects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expressionModified Ca(v)1.4 expression in the Cacna1f(nob2) mouse due to alternative splicing of an ETn inserted in exon 2Protein kinase A modulation of CaV1.4 calcium channelsGenetic dissection of horizontal cell inhibitory signaling in mice in complete darkness in vivo.Trio-based exome sequencing arrests de novo mutations in early-onset high myopiaIncreased activities of Na+/K+-ATPase and Ca2+/Mg2+-ATPase in the frontal cortex and cerebellum of autistic individualsThe nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responsesCav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2.Dysregulation of Ca(v)1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronismA novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.Rare mutations of CACNB2 found in autism spectrum disease-affected families alter calcium channel function.Probing the architecture of an L-type calcium channel with a charged phenylalkylamine: evidence for a widely open pore and drug trappingPore stability and gating in voltage-activated calcium channelsMolecular dynamics and mutational analysis of a channelopathy mutation in the IIS6 helix of Ca V 1.2.Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons.Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.Calcium-induced calcium release in rod photoreceptor terminals boosts synaptic transmission during maintained depolarization.Gain-of-function nature of Cav1.4 L-type calcium channels alters firing properties of mouse retinal ganglion cells.Optimization of single-photon response transmission at the rod-to-rod bipolar synapse.Trafficking of presynaptic PMCA signaling complexes in mouse photoreceptors requires Cav1.4 α1 subunits.An autism-associated mutation in CaV1.3 channels has opposing effects on voltage- and Ca(2+)-dependent regulation.Kinetics of synaptic transmission at ribbon synapses of rods and cones.Ca(v)1 L-type Ca2+ channel signaling complexes in neurons.What can naturally occurring mutations tell us about Ca(v)1.x channel function?Communication between the synapse and the nucleus in neuronal development, plasticity, and disease.Novel TRPM1 mutations in two Chinese families with early-onset high myopia, with or without complete congenital stationary night blindness.Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels.Genetics studies indicate that neural induction and early neuronal maturation are disturbed in autism.Structural determinants of L-type channel activation in segment IIS6 revealed by a retinal disorder.Different pathways for activation and deactivation in CaV1.2: a minimal gating modelDegrading vision with too much Ca(2+).Physicochemical properties of pore residues predict activation gating of Ca V1.2: a correlation mutation analysis.Methods for quantification of pore-voltage sensor interaction in Ca(V)1.2.
P2860
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P2860
A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.
description
2005 nî lūn-bûn
@nan
2005 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
A CACNA1F mutation identified ...... e of Cav1.4 channel activation
@nl
A CACNA1F mutation identified ...... of Cav1.4 channel activation.
@ast
A CACNA1F mutation identified ...... of Cav1.4 channel activation.
@en
A CACNA1F mutation identified ...... of Cav1.4 channel activation.
@en-gb
type
label
A CACNA1F mutation identified ...... e of Cav1.4 channel activation
@nl
A CACNA1F mutation identified ...... of Cav1.4 channel activation.
@ast
A CACNA1F mutation identified ...... of Cav1.4 channel activation.
@en
A CACNA1F mutation identified ...... of Cav1.4 channel activation.
@en-gb
prefLabel
A CACNA1F mutation identified ...... e of Cav1.4 channel activation
@nl
A CACNA1F mutation identified ...... of Cav1.4 channel activation.
@ast
A CACNA1F mutation identified ...... of Cav1.4 channel activation.
@en
A CACNA1F mutation identified ...... of Cav1.4 channel activation.
@en-gb
P2093
P2860
P50
P3181
P356
P1476
A CACNA1F mutation identified ...... e of Cav1.4 channel activation
@en
P2093
Carolyn I Hope
Dianne M Sharp
Gillian M Clover
Jane Wilson-Wheeler
Jean-Charles Hoda
Marion A Maw
Patricia Lundon-Treweek
Rainer Marksteiner
Stanislav Berjukow
Steffen Hering
P2860
P304
P3181
P356
10.1073/PNAS.0501907102
P407
P577
2005-05-16T00:00:00Z