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Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 12/2016, Volume 57, Issue 15, pp. 6861 - 6869
Journal Article
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 11/2018, Volume 39, Issue 6, pp. 741 - 748
Background: Low vision in children can be accompanied by pallor of the optic disc with little or no characteristic morphologic changes of the retina. A variety... 
optic atrophy | incomplete congenital stationary night blindness (iCSNB) | CACNA1F | whole-exome sequencing | genetic testing | GENOTYPE | ROD | PHENOTYPE | ISCEV STANDARD | POTENTIALS | MATURATION | FAMILY | GENETICS & HEREDITY | ELECTRORETINOGRAM | OPHTHALMOLOGY | ERG RESPONSES | STATIONARY NIGHT BLINDNESS | Index Medicus
Journal Article
HUMAN MUTATION, ISSN 1059-7794, 08/2007, Volume 28, Issue 8, pp. 771 - 780
Mutations in the GRM6 gene, which encodes the metabotropic glutamate receptor 6 (mGluR6), lead to autosomal recessive congenital stationary night blindness... 
RHODOPSIN GENE | HETEROZYGOUS MISSENSE MUTATION | INCOMPLETE TYPE | BINDING DOMAIN | HUMAN CA2+ RECEPTOR | GLUTAMATE-RECEPTOR | pathogenicity | GRM6 | glutamate receptor | ROD TRANSDUCIN | GENETICS & HEREDITY | arCSNB | COUPLED RECEPTORS | SUBTYPE 1 | CACNA1F MUTATIONS | trafficking defect
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2014, Volume 9, Issue 1, pp. e86769 - e86769
Light-dependent conductance changes of voltage-gated Ca(v)1.4 channels regulate neurotransmitter release at photoreceptor ribbon synapses. Mutations in the... 
CACNA1F MUTATION | CELLS | LOCALIZATION | CALCIUM-CHANNELS | GENE | ROD | MULTIDISCIPLINARY SCIENCES | SYNAPTIC-TRANSMISSION | RAT RETINA | LINKED RETINAL DISORDER | RIBBON SYNAPSES | Electroretinography - methods | Membrane Potentials - genetics | Calcium Channels - metabolism | Calcium - metabolism | Night Blindness - metabolism | Male | Synapses - genetics | Retinal Rod Photoreceptor Cells - metabolism | Retinal Degeneration - metabolism | Myopia - metabolism | Synapses - metabolism | Female | Genetic Diseases, X-Linked - genetics | Models, Animal | Calcium Channels - genetics | Night Blindness - genetics | Retinal Degeneration - genetics | Genetic Diseases, X-Linked - metabolism | Mutation - genetics | Eye Diseases, Hereditary - genetics | Myopia - genetics | Animals | Mice | Retinal Horizontal Cells - metabolism | Longitudinal Studies | Eye Diseases, Hereditary - metabolism | Physiological aspects | Genetic aspects | Genetic disorders | Animal models | Night | Laboratories | Biology | Nyctalopia | Channels | Calcium influx | Depolarization | Proteins | Synaptic ribbons | Physiology | Degeneration | Gating | Age | Neurotransmitter release | Channel gating | Calcium channels (voltage-gated) | Mutants | Resistance | Correlation analysis | Blindness | Retinal degeneration | Photoreceptors | Conductance | Mutation | Stationary night blindness | Synapses | Index Medicus
Journal Article
International Journal of Molecular Medicine, ISSN 1107-3756, 9/2012, Volume 30, Issue 3, pp. 521 - 526
The aim of this study was to identify mutations in the TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness (CSNB).... 
TRPM1 | mutation | congenital stationary night blindness | GRM6 | Chinese | CACNA1F | NYX | Congenital stationary night blindness | Mutation | MEDICINE, RESEARCH & EXPERIMENTAL | METABOTROPIC GLUTAMATE-RECEPTOR | COMPLETE FORM | NYCTALOPIN | CHANNEL | FAMILIES | MGLUR6 | ELECTRORETINOGRAM | RICH | ARRESTIN GENE | OGUCHI-DISEASE | Proteins | Signal transduction | Congenital diseases | Family medical history | Patients
Journal Article
JOURNAL OF NEUROCHEMISTRY, ISSN 0022-3042, 03/2006, Volume 96, Issue 6, pp. 1648 - 1658
At least 48 mutations in the CACNA1F gene encoding retinal Ca(v)1.4 L-type Ca2+ channels have been linked to X-linked recessive congenital stationary night... 
genetic diseases | CONDUCTANCE | VOLTAGE | voltage-gated Ca2+ channels | congenital stationary night blindness | BIOCHEMISTRY & MOLECULAR BIOLOGY | channelopathies | INCOMPLETE TYPE | TRAFFICKING | NEUROSCIENCES | DEPENDENCE | GENE | CACNA1F MUTATIONS | MOUSE RETINA | missense mutations | FAMILIAL HEMIPLEGIC MIGRAINE | CALCIUM-CHANNEL
Journal Article
Clinical & Experimental Ophthalmology, ISSN 1442-6404, 04/2005, Volume 33, Issue 2, pp. 129 - 136
Purpose: To describe the phenotype in a New Zealand family with an unusual severe X-linked retinal disorder with a novel I745T mutation in CACNA1F, the gene... 
X-linked congenital stationary night blindness | retinal dystrophy | CACNA1F gene | X‐linked congenital stationary night blindness | CACNA1F | gene | LOCALIZATION | FORM | XP11.23 | OPHTHALMOLOGY | STATIONARY NIGHT BLINDNESS | Nystagmus, Congenital - diagnosis | Retinal Degeneration - diagnosis | Humans | Middle Aged | Child, Preschool | Infant | Male | Nystagmus, Congenital - genetics | Photoreceptor Cells, Vertebrate - physiology | Color Vision Defects - genetics | Dark Adaptation | Adult | Female | Genetic Diseases, X-Linked - genetics | Child | Night Blindness - genetics | Genetic Diseases, X-Linked - physiopathology | Electroretinography | Retinal Degeneration - genetics | Night Blindness - diagnosis | Retinal Degeneration - physiopathology | Genetic Diseases, X-Linked - diagnosis | New Zealand | Phenotype | Calcium Channels, L-Type - genetics | Pedigree | Night Blindness - physiopathology | Adolescent | Aged | Color Vision Defects - diagnosis | Mutation | Night Blindness, genetics | Color Vision Defects, genetics | Calcium Channels, L-Type, genetics | Nystagmus, Congenital, diagnosis | Retinal Degeneration, genetics | Genetic Diseases, X-Linked, physiopathology | Retinal Degeneration, diagnosis | Night Blindness, diagnosis | Genetic Diseases, X-Linked, diagnosis | Retinal Degeneration, physiopathology | Color Vision Defects, diagnosis | Night Blindness, physiopathology | Genetic Diseases, X-Linked, genetics | Nystagmus, Congenital, genetics | Photoreceptors, Vertebrate, physiology | Index Medicus
Journal Article
Journal Article
Journal Article
Investigative Ophthalmology & Visual Science, ISSN 0146-0404, 12/2009, Volume 50, Issue 12, pp. 5919 - 5926
Journal Article
The Journal of Comparative Neurology, ISSN 0021-9967, 01/2007, Volume 500, Issue 2, pp. 286 - 298
The nob2 mouse carries a null mutation in the Cacna1f gene, which encodes the pore‐forming subunit of the L‐type calcium channel, Ca v 1.4. The loss of the... 
rod retraction | second‐order neuron outgrowth | bipolar cell | horizontal cell | Horizontal cell | Second-order neuron outgrowth | Bipolar cell | Rod retraction | METABOTROPIC GLUTAMATE-RECEPTOR | second-order neuron outgrowth | MAMMALIAN RETINA | NEUROSCIENCES | FUNCTIONAL ABNORMALITIES | ZOOLOGY | CONE PHOTORECEPTORS | CALCIUM-CHANNEL SUBUNIT | PHOTORECEPTOR RIBBON SYNAPSE | BETA-DYSTROGLYCAN | MOUSE RETINA | CACNA1F MUTATIONS | STATIONARY NIGHT BLINDNESS | Retinal Rod Photoreceptor Cells - ultrastructure | Synaptic Transmission - genetics | Male | Dendrites - ultrastructure | Receptors, Metabotropic Glutamate - metabolism | Presynaptic Terminals - ultrastructure | Retinal Rod Photoreceptor Cells - metabolism | Cell Differentiation - genetics | Choristoma - metabolism | Mice, Mutant Strains | Female | Retinal Horizontal Cells - ultrastructure | Choristoma - genetics | Calcium Channels - genetics | Dystrophin - metabolism | Biomarkers - metabolism | Dendrites - metabolism | Retinal Bipolar Cells - metabolism | Mice, Inbred C57BL | Mutation - genetics | Synaptic Membranes - ultrastructure | Retinal Rod Photoreceptor Cells - abnormalities | Vision, Ocular - genetics | Animals | Retinal Bipolar Cells - ultrastructure | Presynaptic Terminals - metabolism | Mice | Retinal Horizontal Cells - metabolism | Choristoma - pathology | Synaptic Membranes - metabolism | Synaptic Membranes - genetics | Index Medicus
Journal Article