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Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 12/2016, Volume 57, Issue 15, pp. 6861 - 6869
Journal Article
Channels, ISSN 1933-6950, 2013, Volume 7, Issue 6, pp. 514 - 523
Mutations in the gene encoding Ca v 1.4, CACNA1F , are associated with visual disorders including X-linked incomplete congenital stationary night blindness... 
Ribbon synapse | Retina | Congenital stationary night blindness | CACNA1F | Photoreceptor | congenital stationary night blindness | retina | Ca2+ channel | photoreceptor | ribbon synapse | Research Paper | Cav1.4
Journal Article
Experimental Eye Research, ISSN 0014-4835, 02/2019, Volume 179, pp. 106 - 114
The gene encodes the α1F subunit of an L-type voltage-gated calcium channel, Cav1.4. In photoreceptor synaptic terminals, Cav1.4 channels mediate glutamate... 
Mice | Congenital stationary night blindness | Cone opsins | Electroretinogram | X-linked recessive inheritance | VISION | RODS | CAV1.4 | GENE | DYSTROPHY | OPHTHALMOLOGY | DISRUPTS | MUTATIONS | CALCIUM-CHANNEL | STATIONARY NIGHT BLINDNESS | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 06/2019, Volume 40, Issue 6, pp. 765 - 787
Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in ~260 genes.... 
icCSNB | synonymous variants | intronic variants | IRD | minigene approach | gene defect | CACNA1F | COMPLEX | LARGE COHORT | GENOME | ABCR | MUTATION SPECTRUM | UNC80 | DYSTROPHY | FAMILIES | GENETICS & HEREDITY | PROBANDS | STATIONARY NIGHT BLINDNESS | Genetic research | Genetic aspects | Nucleotide sequencing | Genes | Genomics | DNA sequencing | Phenotypes | Blindness | Retina | Genomes | Regulatory sequences | Diagnosis | Nyctalopia | Stationary night blindness
Journal Article
Journal Article
The Journal of Comparative Neurology, ISSN 0021-9967, 02/2008, Volume 506, Issue 5, pp. 745 - 758
Journal Article
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 04/2015, Volume 56, Issue 4, pp. 2312 - 2324
PURPOSE. The cacnb2 gene encodes the beta 2 subunit (Cav beta 2) of voltage-gated Ca2+ channels in photoreceptors, and its targeted deletion in mice has... 
CHICK RETINA | NEUROTRANSMITTER RELEASE | Cavbeta subunit | LAMININ BETA-2 | Ca channel | RIBEYE | ACTIVE ZONES | E-PTA | OPHTHALMOLOGY | MOUSE RETINA | CACNA1F MUTATIONS | synaptic ribbon | CALCIUM-CHANNEL | STATIONARY NIGHT BLINDNESS | SYNAPTIC RIBBONS
Journal Article
International Journal of Developmental Neuroscience, ISSN 0736-5748, 12/2006, Volume 24, Issue 8, pp. 524 - 525
Journal Article
BIOMED RESEARCH INTERNATIONAL, ISSN 2314-6133, 2018
Voltage-gated calcium channels (VGCC) are key to many biological functions. Entry of Ca2+ into cells is essential for initiating or modulating important... 
MEDICINE, RESEARCH & EXPERIMENTAL | DEPENDENT INACTIVATION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | SYNAPTIC-TRANSMISSION | CA2+ CHANNELS | CACNA1F MUTATIONS | GATED CALCIUM-CHANNELS | SPLICE VARIANTS | RAT MODEL | FUNCTIONAL ABNORMALITIES | STATIONARY NIGHT BLINDNESS | CA2+-DEPENDENT INACTIVATION
Journal Article
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 03/2014, Volume 23, Issue 6, pp. 1538 - 1550
Journal Article
Channels, ISSN 1933-6950, 2015, Volume 9, Issue 5, pp. 221 - 222
Journal Article
CHANNELS, ISSN 1933-6950, 2013, Volume 7, Issue 6, pp. 514 - 523
Mutations in the gene encoding Ca(v)1.4, CACNA1F(,) are associated with visual disorders including X-linked incomplete congenital stationary night blindness... 
CACNA1F MUTATION | congenital stationary night blindness | Ca2+channel | CABP4 | BIOCHEMISTRY & MOLECULAR BIOLOGY | photoreceptor | CA2+ CHANNELS | RAT RETINA | ribbon synapse | CLINICAL VARIABILITY | CACNA1F | HAIR-CELLS | ROD PHOTORECEPTORS | CONE PHOTORECEPTORS | retina | LINKED RETINAL DISORDER | MOUSE RETINA | Cav1.4
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 02/2004, Volume 45, Issue 2, pp. 708 - 713
PURPOSE. To study the electrophysiological and pharmacological properties of the L-type Ca2+ channel (LTCC) Ca(v)1.4alpha1 (alpha1F) subunit from mouse retina... 
BIPOLAR CELLS | DEPENDENT INACTIVATION | ROD PHOTORECEPTORS | CONE PHOTORECEPTORS | SENSITIVE CALCIUM-CHANNEL | OPHTHALMOLOGY | GATED ION CHANNELS | MOLECULAR DETERMINANTS | CACNA1F MUTATIONS | STATIONARY NIGHT BLINDNESS | CA2+-DEPENDENT INACTIVATION
Journal Article