Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness
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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.Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function.X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F geneMutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophyNight blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6Retinal dystrophies, genomic applications in diagnosis and prospects for therapyThe Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic PotentialThe dynamic architecture of photoreceptor ribbon synapses: cytoskeletal, extracellular matrix, and intramembrane proteinsTowards a Unified Theory of Calmodulin Regulation (Calmodulation) of Voltage-Gated Calcium and Sodium ChannelsImmunohistochemical detection of alpha1E voltage-gated Ca(2+) channel isoforms in cerebellum, INS-1 cells, and neuroendocrine cells of the digestive system.Characterization of voltage-dependent sodium and calcium channels in mouse pancreatic A- and B-cells.Voltage-Gated Cav1 Channels in Disorders of Vision and HearingIdentification and functional characterization of voltage-dependent calcium channels in T lymphocytesThirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retinaVoltage-gated calcium channelsL-type calcium channels: the low downEffects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expressionA genetic screen for dihydropyridine (DHP)-resistant worms reveals new residues required for DHP-blockage of mammalian calcium channelsModified Ca(v)1.4 expression in the Cacna1f(nob2) mouse due to alternative splicing of an ETn inserted in exon 2A critical role of CaBP4 in the cone synapse.A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindnessCharacterization of C-terminal Splice Variants of Cav1.4 Ca2+ Channels in Human RetinaThe diverse roles of ribbon synapses in sensory neurotransmission.The role of ribbons at sensory synapses.Location of release sites and calcium-activated chloride channels relative to calcium channels at the photoreceptor ribbon synapse.Structure and function of the hair cell ribbon synapseFunctional embryonic cardiomyocytes after disruption of the L-type alpha1C (Cav1.2) calcium channel gene in the mouse.Congenital stationary night blindness and a "Schubert-Bornschein" type electrophysiology in a family with dominant inheritance.Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formationA null mutation in CABP4 causes Leber's congenital amaurosis-like phenotypeVoltage-dependent calcium channel mutations in neurological disease.The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responsesCalcium Channel CaVα₁ Splice Isoforms - Tissue Specificity and Drug Action.TRPM1 mutations are associated with the complete form of congenital stationary night blindnessSpectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2Presynaptic proteins of ribbon synapses in the retina.Neurotransmitter release at ribbon synapses in the retina.Channelopathies: ion channel defects linked to heritable clinical disorders.A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.
P2860
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P2860
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness
description
1998 nî lūn-bûn
@nan
1998 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Loss-of-function mutations in ...... tal stationary night blindness
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Loss-of-function mutations in ...... tal stationary night blindness
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Loss-of-function mutations in ...... tal stationary night blindness
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Loss-of-function mutations in ...... tal stationary night blindness
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type
label
Loss-of-function mutations in ...... tal stationary night blindness
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Loss-of-function mutations in ...... tal stationary night blindness
@en
Loss-of-function mutations in ...... tal stationary night blindness
@en-gb
Loss-of-function mutations in ...... tal stationary night blindness
@nl
prefLabel
Loss-of-function mutations in ...... tal stationary night blindness
@ast
Loss-of-function mutations in ...... tal stationary night blindness
@en
Loss-of-function mutations in ...... tal stationary night blindness
@en-gb
Loss-of-function mutations in ...... tal stationary night blindness
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P2093
P921
P3181
P356
P1433
P1476
Loss-of-function mutations in ...... tal stationary night blindness
@en
P2093
G A Fishman
K M Boycott
M A Musarella
M J Naylor
N T Bech-Hansen
T A Maybaum
W G Pearce
P2888
P3181
P356
10.1038/947
P407
P50
P577
1998-07-01T00:00:00Z
P6179
1009938043