A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants
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Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindnessA 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 geneRetinal dystrophies, genomic applications in diagnosis and prospects for therapyVoltage-Gated Cav1 Channels in Disorders of Vision and HearingThirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retinaMutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retinaEffects 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 2Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formationThe nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responsesRod bipolar cells and horizontal cells form displaced synaptic contacts with rods in the outer nuclear layer of the nob2 retinaA novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.Switching off calcium-dependent inactivation in L-type calcium channels by an autoinhibitory domainCharacterization of Cav1.4 complexes (α11.4, β2, and α2δ4) in HEK293T cells and in the retinaAutofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosaAlternative splicing at C terminus of Ca(V)1.4 calcium channel modulates calcium-dependent inactivation, activation potential, and current density.Optimization of single-photon response transmission at the rod-to-rod bipolar synapse.What can naturally occurring mutations tell us about Ca(v)1.x channel function?Lack of CaBP1/Caldendrin or CaBP2 Leads to Altered Ganglion Cell Responses.Genetic architecture of natural variation in visual senescence in Drosophila.Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.Control of neuronal voltage-gated calcium ion channels from RNA to protein.Attenuation of oscillatory potentials in nob2 mice.Characterization of Ca2+-binding protein 5 knockout mouse retina.The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA.Essential, completely conserved glycine residue in the domain III S2-S3 linker of voltage-gated calcium channel alpha1 subunits in yeast and mammals.
P2860
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P2860
A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants
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2001 nî lūn-bûn
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2001 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2001年の論文
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2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
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name
A summary of 20 CACNA1F mutati ...... cterization of splice variants
@ast
A summary of 20 CACNA1F mutati ...... cterization of splice variants
@en
A summary of 20 CACNA1F mutati ...... cterization of splice variants
@nl
type
label
A summary of 20 CACNA1F mutati ...... cterization of splice variants
@ast
A summary of 20 CACNA1F mutati ...... cterization of splice variants
@en
A summary of 20 CACNA1F mutati ...... cterization of splice variants
@nl
prefLabel
A summary of 20 CACNA1F mutati ...... cterization of splice variants
@ast
A summary of 20 CACNA1F mutati ...... cterization of splice variants
@en
A summary of 20 CACNA1F mutati ...... cterization of splice variants
@nl
P2093
P3181
P356
P1433
P1476
A summary of 20 CACNA1F mutati ...... cterization of splice variants
@en
P2093
A A Bergen
J Robitaille
K M Boycott
M E Pierpont
M J Naylor
N T Bech-Hansen
R G Weleber
T A Maybaum
W G Pearce
P2888
P3181
P356
10.1007/S004390100461
P407
P577
2001-02-01T00:00:00Z
P6179
1037746679