Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels
about
A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F geneLoss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafnessEffects 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 2Molecular endpoints of Ca2+/calmodulin- and voltage-dependent inactivation of Ca(v)1.3 channelsThe 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.Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2Structural determinants of CaV1.3 L-type calcium channel gating.Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronismPore stability and gating in voltage-activated calcium channelsLevels of Ca(V)1.2 L-Type Ca(2+) Channels Peak in the First Two Weeks in Rat Hippocampus Whereas Ca(V)1.3 Channels Steadily Increase through Development.Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivationAn 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?Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels.Calcium binding protein-mediated regulation of voltage-gated calcium channels linked to human diseases.Sense and specificity in neuronal calcium signalling.C-terminal modulator controls Ca2+-dependent gating of Ca(v)1.4 L-type Ca2+ channels.Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2.Photoreceptor calcium channels: insight from night blindness.Channeling Vision: CaV1.4-A Critical Link in Retinal Signal Transmission.
P2860
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P2860
Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels
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2005 nî lūn-bûn
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2005 թուականի Յունուարին հրատարակուած գիտական յօդուած
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2005 թվականի հունվարին հրատարակված գիտական հոդված
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2005年の論文
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2005年論文
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2005年論文
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2005年論文
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2005年論文
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2005年論文
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2005年论文
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name
Congenital stationary night bl ...... Ca(v)1.4 L-type Ca2+ channels
@ast
Congenital stationary night bl ...... Ca(v)1.4 L-type Ca2+ channels
@en
Congenital stationary night bl ...... Ca(v)1.4 L-type Ca2+ channels
@nl
type
label
Congenital stationary night bl ...... Ca(v)1.4 L-type Ca2+ channels
@ast
Congenital stationary night bl ...... Ca(v)1.4 L-type Ca2+ channels
@en
Congenital stationary night bl ...... Ca(v)1.4 L-type Ca2+ channels
@nl
prefLabel
Congenital stationary night bl ...... Ca(v)1.4 L-type Ca2+ channels
@ast
Congenital stationary night bl ...... Ca(v)1.4 L-type Ca2+ channels
@en
Congenital stationary night bl ...... Ca(v)1.4 L-type Ca2+ channels
@nl
P2093
P3181
P1476
Congenital stationary night bl ...... Ca(v)1.4 L-type Ca2+ channels
@en
P2093
Alexandra Koschak
Francesca Zaghetto
Jean-Charles Hoda
P304
P3181
P356
10.1523/JNEUROSCI.3054-04.2005
P407
P577
2005-01-01T00:00:00Z