scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1009938043 |
P356 | DOI | 10.1038/947 |
P3181 | OpenCitations bibliographic resource ID | 948727 |
P698 | PubMed publication ID | 9662400 |
P50 | author | Ben F Koop | Q30506187 |
P2093 | author name string | N T Bech-Hansen | |
M A Musarella | |||
W G Pearce | |||
G A Fishman | |||
M J Naylor | |||
K M Boycott | |||
T A Maybaum | |||
M Mets | |||
P2860 | cites work | An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness | Q24315182 |
Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype | Q24324250 | ||
Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. | Q24538863 | ||
Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp | Q28252488 | ||
Isolation and nucleotide sequence of the gene encoding human rhodopsin | Q28609991 | ||
Structure and function of voltage-gated ion channels | Q34296742 | ||
Restoration of excitation-contraction coupling and slow calcium current in dysgenic muscle by dihydropyridine receptor complementary DNA. | Q34560693 | ||
Primary structure and functional expression of the cardiac dihydropyridine-sensitive calcium channel | Q34661325 | ||
Ca2+ channels: diversity of form and function | Q35231036 | ||
B-wave of the electroretinogram. A reflection of ON bipolar cell activity | Q36410131 | ||
The dihydropyridine-sensitive calcium channel subtype in cone photoreceptors | Q36411781 | ||
Integration of 101 DNA markers across human Xp11 using a panel of somatic cell hybrids | Q36865863 | ||
A 2-megabase physical contig incorporating 43 DNA markers on the human X chromosome at p11.23-p11.22 from ZNF21 to DXS255. | Q40941690 | ||
The IVS6 segment of the L-type calcium channel is critical for the action of dihydropyridines and phenylalkylamines. | Q41064996 | ||
Ataxia, arrhythmia and ion-channel gene defects | Q41737714 | ||
A Drosophila calcium channel alpha1 subunit gene maps to a genetic locus associated with behavioral and visual defects | Q42647731 | ||
Congenital stationary night blindness with negative electroretinogram. A new classification | Q44444809 | ||
Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval | Q48058297 | ||
Ionic conductances of monkey solitary cone inner segments | Q71622403 | ||
Push-pull model of the primate photopic electroretinogram: a role for hyperpolarizing neurons in shaping the b-wave | Q72076802 | ||
Dihydropyridine-sensitive calcium current mediates neurotransmitter release from bipolar cells of the goldfish retina | Q72087486 | ||
A cGMP-gated current can control exocytosis at cone synapses | Q72769738 | ||
Construction of a 1.5-Mb bacterial artificial chromosome contig in Xp11.23, a region of high gene content | Q74451032 | ||
Confidence Limits on Phylogenies: an Approach using the Bootstrap | Q104205453 | ||
P433 | issue | 3 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | calcium | Q706 |
visual perception | Q162668 | ||
X-linked congenital stationary night blindness | Q8041552 | ||
congenital disorder | Q727096 | ||
congenital stationary night blindness | Q18553290 | ||
Calcium voltage-gated channel subunit alpha1 F | Q21102124 | ||
P304 | page(s) | 264-7 | |
P577 | publication date | 1998-07-01 | |
P1433 | published in | Nature Genetics | Q976454 |
P1476 | title | Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness | |
P478 | volume | 19 |
Q24302179 | A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. |
Q46444367 | A Ni(2+)-sensitive component of the ERG b-wave from the isolated bovine retina is related to E-type voltage-gated Ca(2+) channels |
Q28512576 | A critical role of CaBP4 in the cone synapse |
Q43903067 | A distinctive form of congenital stationary night blindness with cone ON-pathway dysfunction |
Q28472680 | A genetic screen for dihydropyridine (DHP)-resistant worms reveals new residues required for DHP-blockage of mammalian calcium channels |
Q36358411 | A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment |
Q34169360 | A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness |
Q28767407 | A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness |
Q28201570 | A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness |
Q35016967 | A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype |
Q35629094 | A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family |
Q28138986 | A novel subgroup of class I G-protein-coupled receptors |
Q33645591 | A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype |
Q37367597 | A point mutation (W70A) in the rod PDE-gamma gene desensitizing and delaying murine rod photoreceptors |
Q44541426 | A potential spontaneous rat model of X-linked congenital stationary night blindness |
Q44014596 | Abnormalities of the long flash ERG in congenital stationary night blindness of the Schubert-Bornschein type. |
Q37402197 | Abundant L-type calcium channel Ca(v)1.3 (alpha1D) subunit mRNA is detected in rod photoreceptors of the mouse retina via in situ hybridization. |
Q91721366 | Activation of Rod Input in a Model of Retinal Degeneration Reverses Retinal Remodeling and Induces Formation of Functional Synapses and Recovery of Visual Signaling in the Adult Retina |
Q35668930 | Alternative splicing at C terminus of Ca(V)1.4 calcium channel modulates calcium-dependent inactivation, activation potential, and current density |
Q37371706 | Alternative splicing of voltage-gated calcium channels: from molecular biology to disease |
Q36980803 | Amyloid Precursor-Like Protein 2 deletion-induced retinal synaptopathy related to congenital stationary night blindness: structural, functional and molecular characteristics |
Q55384408 | An Improved Method for Modeling Voltage-Gated Ion Channels at Atomic Accuracy Applied to Human Cav Channels. |
Q36400102 | Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease |
Q82338598 | Assessment of bovine rod outer segment disk membrane heterogeneity utilizing flow cytometry |
Q40986415 | Attenuation of oscillatory potentials in nob2 mice |
Q38739507 | Auditory neuropathy--neural and synaptic mechanisms |
Q35225965 | Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa |
Q52137076 | Autosomal dominant inheritance of a negative electroretinogram phenotype in three generations. |
Q36903762 | Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness |
Q73572197 | Biophysical and pharmacological characterization of voltage-sensitive calcium currents in neonatal rat inferior colliculus neurons |
Q40166656 | Block of voltage-dependent calcium channels by aliphatic monoamines. |
Q37081747 | Ca(v)1 L-type Ca2+ channel signaling complexes in neurons |
Q48314206 | Ca2+ channel antagonists and neuroprotection from cerebral ischemia |
Q64983954 | Ca2+ sensor synaptotagmin-1 mediates exocytosis in mammalian photoreceptors. |
Q34279866 | CaV1.3 channels are essential for development and presynaptic activity of cochlear inner hair cells. |
Q33719513 | Calcium Channel CaVα₁ Splice Isoforms - Tissue Specificity and Drug Action |
Q60708365 | Calcium Channelopathies |
Q34590396 | Calcium and retinal function |
Q34288747 | Calcium channel auxiliary α2δ and β subunits: trafficking and one step beyond |
Q50517243 | Calcium channel heterogeneity among cone photoreceptors in the tree shrew retina. |
Q34723088 | Calcium channel-dependent molecular maturation of photoreceptor synapses |
Q34560191 | Calcium channels and channelopathies of the central nervous system |
Q34772941 | Calcium regulation in photoreceptors. |
Q39806331 | Calmodulin is a functional regulator of Cav1.4 L-type Ca2+ channels |
Q34351659 | Cav1.4 encodes a calcium channel with low open probability and unitary conductance. |
Q28186241 | Cav1.4alpha1 subunits can form slowly inactivating dihydropyridine-sensitive L-type Ca2+ channels lacking Ca2+-dependent inactivation |
Q35580772 | Center-surround Antagonism Mediated by Proton Signaling at the Cone Photoreceptor Synapse |
Q55248742 | Channeling Vision: CaV1.4-A Critical Link in Retinal Signal Transmission. |
Q34051594 | Channelopathies: ion channel defects linked to heritable clinical disorders |
Q28975753 | Characterization of C-terminal Splice Variants of Cav1.4 Ca2+ Channels in Human Retina |
Q41812101 | Characterization of Ca2+-binding protein 5 knockout mouse retina |
Q35121264 | Characterization of Cav1.4 complexes (α11.4, β2, and α2δ4) in HEK293T cells and in the retina |
Q47753734 | Characterization of calcium channel binding |
Q27863914 | Characterization of voltage-dependent sodium and calcium channels in mouse pancreatic A- and B-cells |
Q37560461 | Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark. |
Q46419617 | 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. |
Q28141165 | Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F |
Q40969230 | Cloning and expression of a novel member of the low voltage-activated T-type calcium channel family |
Q37226295 | Comparisons of structural and functional abnormalities in mouse b-wave mutants. |
Q89510723 | Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies |
Q47407487 | Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A). |
Q57463061 | Cone-rod homeobox CRX controls presynaptic active zone formation in photoreceptors of mammalian retina |
Q43505857 | Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels |
Q33204820 | Congenital stationary night blindness and a "Schubert-Bornschein" type electrophysiology in a family with dominant inheritance |
Q28301295 | 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 |
Q38125889 | Control of neuronal voltage-gated calcium ion channels from RNA to protein |
Q47838572 | Danger: High Voltage-The Role of Voltage-Gated Calcium Channels in Central Nervous System Pathology |
Q39994704 | Degrading vision with too much Ca(2+). |
Q36533292 | Depolarizing bipolar cell dysfunction due to a Trpm1 point mutation |
Q48254101 | Developmental and tissue expression patterns of mouse Mpp4 gene |
Q50508877 | Differential modulation of rod and cone calcium currents in tiger salamander retina by D2 dopamine receptors and cAMP. |
Q24290693 | Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse |
Q84738909 | Distribution of voltage gated calcium channel β subunits in the mouse retina |
Q79353137 | ERGs in female carriers of incomplete congenital stationary night blindness (I-CSNB). A family report |
Q28297203 | Effects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expression |
Q28204965 | Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation |
Q35195026 | Electrophysiological analysis of visual function in mutant mice. |
Q45089572 | Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease). |
Q24305542 | Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function |
Q41738910 | Ethanol regulates calcium channel subunits by protein kinase C delta -dependent and -independent mechanisms. |
Q44253824 | Evaluation of essential trace and toxic elements in biological samples of normal and night blindness children of age groups 3-7 and 8-12 years. |
Q40878125 | Fast inactivation of voltage-dependent calcium channels. A hinged-lid mechanism? |
Q89766638 | Foxn4 is a temporal identity factor conferring mid/late-early retinal competence and involved in retinal synaptogenesis |
Q34976636 | Functional diversity in neuronal voltage-gated calcium channels by alternative splicing of Ca(v)alpha1. |
Q31438008 | Functional embryonic cardiomyocytes after disruption of the L-type alpha1C (Cav1.2) calcium channel gene in the mouse. |
Q40897818 | G protein modulation of N-type calcium channels is facilitated by physical interactions between syntaxin 1A and Gbetagamma. |
Q38446272 | G protein signaling in the retina and beyond: the Cogan lecture |
Q35921448 | GNAT1 associated with autosomal recessive congenital stationary night blindness |
Q90441144 | Genome-wide association study and whole-genome sequencing identify a deletion in LRIT3 associated with canine congenital stationary night blindness |
Q80848500 | Gradient of deficit in cone responses in the incomplete form of congenital stationary night blindness revealed by multifocal electroretinography |
Q37363546 | High susceptibility to experimental myopia in a mouse model with a retinal on pathway defect |
Q35531717 | High-Fat Diet-Induced Retinal Dysfunction |
Q28204919 | Identification and functional characterization of voltage-dependent calcium channels in T lymphocytes |
Q35667962 | Identification of a novel heterozygous missense mutation in the CACNA1F gene in a chinese family with retinitis pigmentosa by next generation sequencing. |
Q27863655 | Immunohistochemical detection of alpha1E voltage-gated Ca(2+) channel isoforms in cerebellum, INS-1 cells, and neuroendocrine cells of the digestive system |
Q35682326 | In vivo analysis of voltage-dependent calcium channels |
Q36598372 | Inactivation of the microRNA-183/96/182 cluster results in syndromic retinal degeneration. |
Q44123249 | Incomplete congenital stationary night blindness associated with symmetrical retinal atrophy |
Q35926028 | Individual Differences in Scotopic Visual Acuity and Contrast Sensitivity: Genetic and Non-Genetic Influences |
Q44404918 | Inhibitory action of diltiazem on voltage-gated calcium channels in cone photoreceptors |
Q95823437 | Interaction and colocalization of CaBP4 and Unc119 (MRG4) in photoreceptors |
Q40185471 | Interaction of SNX482 with domains III and IV inhibits activation gating of alpha(1E) (Ca(V)2.3) calcium channels |
Q36978896 | Kinetics of synaptic transmission at ribbon synapses of rods and cones |
Q34768768 | L-type Ca2+ channels of the embryonic mouse heart |
Q33602333 | L-type calcium channel modulation. |
Q28288051 | L-type calcium channels: the low down |
Q37373695 | Lack of CaBP1/Caldendrin or CaBP2 Leads to Altered Ganglion Cell Responses |
Q35593926 | Localization of Rod Bipolar Cells in the Mammalian Retina Using an Antibody Against the α1c L-type Ca(2+) Channel |
Q30497941 | Location of release sites and calcium-activated chloride channels relative to calcium channels at the photoreceptor ribbon synapse. |
Q45921135 | Longer lasting electroretinographic recordings from the isolated and superfused murine retina. |
Q28473025 | Modified Ca(v)1.4 expression in the Cacna1f(nob2) mouse due to alternative splicing of an ETn inserted in exon 2 |
Q40932854 | Modulation of neuronal voltage-gated calcium channels by farnesol. |
Q22010558 | Molecular cloning and characterization of TRPC5 (HTRP5), the human homologue of a mouse brain receptor-activated capacitative Ca2+ entry channel |
Q45923594 | Molecular cloning and characterization of a hamster Cav1.3 Ca2+ channel variant with a long carboxyl terminus |
Q40982553 | Molecular diversity of the calcium channel alpha2delta subunit |
Q48578775 | Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture |
Q36959926 | Molecular genetics of infantile-onset retinal dystrophies |
Q90498622 | Molecular mechanisms underlying selective synapse formation of vertebrate retinal photoreceptor cells |
Q34303106 | Molecular pharmacology of high voltage-activated calcium channels |
Q37656373 | Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort |
Q37593044 | Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2. |
Q38176282 | Mouse b-wave mutants |
Q48148450 | Multiple structural domains contribute to voltage-dependent inactivation of rat brain alpha(1E) calcium channels |
Q48884107 | Multiple structural elements contribute to voltage-dependent facilitation of neuronal alpha 1C (CaV1.2) L-type calcium channels |
Q35557035 | Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing |
Q39952496 | Mutation associated with an autosomal dominant cone-rod dystrophy CORD7 modifies RIM1-mediated modulation of voltage-dependent Ca2+ channels. |
Q24306524 | Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy |
Q24301994 | Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness |
Q24290479 | Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness |
Q34610277 | Mutations of RPGR in X-linked retinitis pigmentosa (RP3). |
Q91741074 | Nanomachinery Organizing Release at Neuronal and Ribbon Synapses |
Q37449638 | Naturally occurring animal models with outer retina phenotypes |
Q33941556 | Neurological diseases caused by ion-channel mutations |
Q35682291 | Neurotransmitter modulation of neuronal calcium channels. |
Q34007484 | Neurotransmitter release at ribbon synapses in the retina |
Q39299942 | Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness |
Q24555742 | Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6 |
Q37714200 | Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family |
Q38349474 | Occult macular dystrophy |
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Q37244375 | Phosphorylation of the Ca2+-binding protein CaBP4 by protein kinase C zeta in photoreceptors |
Q37012780 | Photoreceptor and postreceptor responses in congenital stationary night blindness |
Q46839089 | Photoreceptor calcium channels: insight from night blindness. |
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Q37500609 | Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2 |
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