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The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 331 - 339
Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive... 
COMPLETE FORM | LIGHT RESPONSE | CHANNEL | MGLUR6 | SYNAPTIC-TRANSMISSION | MOUSE MODEL | GENETICS & HEREDITY | NYCTALOPIN | RICH REPEAT PROTEIN | MUTATIONS | CONE ELECTRORETINOGRAM | Electroretinography - methods | Night Blindness - metabolism | Humans | Dark Adaptation - genetics | Retinal Rod Photoreceptor Cells - metabolism | Gene Knockdown Techniques - methods | Myopia - metabolism | Receptors, Metabotropic Glutamate - genetics | Retinal Bipolar Cells - physiology | Chromosome Mapping - methods | Genetic Diseases, X-Linked | Night Blindness - genetics | Retinal Bipolar Cells - metabolism | Eye Diseases, Hereditary | Signal Transduction | Mice, Inbred C57BL | Zebrafish | Mice, Inbred C3H | Myopia - genetics | Animals | Myopia - physiopathology | Pedigree | Night Blindness - physiopathology | Retinal Rod Photoreceptor Cells - physiology | Heterozygote | Mice | Receptors, G-Protein-Coupled - genetics | Mutation | Chromosome mapping | Usage | Gene mutations | Retinal bipolar cells | Causes of | Physiological aspects | Night blindness | Genetic aspects | Research | Analysis | Genetic disorders | Proteins | Rodents | Blindness | Gene expression | Cells | Index Medicus | Animal models | Antibodies | Insertion | stationary night blindness | Retina | Guanine nucleotide-binding protein | Electroretinograms | Depolarization | Signal transduction | Vision | Bipolar cells | Gene mapping | DNA sequencing | Report
Journal Article
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
PLoS ONE, ISSN 1932-6203, 09/2015, Volume 10, Issue 9, pp. e0137072 - e0137072
Congenital stationary night blindness (CSNB) is a non-progressive, clinically and genetically heterogeneous disease of impaired night vision. We report a... 
METABOTROPIC GLUTAMATE-RECEPTOR | LIGHT RESPONSE | RABBIT RETINA | MULTIDISCIPLINARY SCIENCES | DEPOLARIZING BIPOLAR | SYNAPTIC-TRANSMISSION | ROD BIPOLAR CELLS | GENE-EXPRESSION | FRAMESHIFT MUTATION | RETINITIS-PIGMENTOSA | MAMMALIAN RETINA | RGS Proteins - genetics | Night Blindness - metabolism | Humans | Heterotrimeric GTP-Binding Proteins - metabolism | Male | Heterotrimeric GTP-Binding Proteins - genetics | Myopia - metabolism | Night Blindness - pathology | RGS Proteins - metabolism | Female | Genetic Diseases, X-Linked - genetics | Night Blindness - genetics | Genetic Diseases, X-Linked - physiopathology | Disease Models, Animal | Genetic Predisposition to Disease - genetics | Eye Diseases, Hereditary - pathology | Eye Diseases, Hereditary - physiopathology | Retina - physiopathology | Gene Expression Regulation | Retinal Cone Photoreceptor Cells - physiology | Proteoglycans - metabolism | Myopia - pathology | Presynaptic Terminals - physiology | Genetic Diseases, X-Linked - metabolism | Eye Diseases, Hereditary - genetics | Myopia - genetics | Animals | Calcium Channels, L-Type - genetics | Myopia - physiopathology | Pedigree | Night Blindness - physiopathology | Dogs | Genetic Diseases, X-Linked - pathology | Presynaptic Terminals - metabolism | Calcium Channels, L-Type - metabolism | Retinal Cone Photoreceptor Cells - metabolism | Eye Diseases, Hereditary - metabolism | Proteoglycans - genetics | Immunohistochemistry | Veterinary colleges | Protein kinase C | Disease | Genes | Antibodies | Retina | Labelling | Rods | Nyctalopia | Veterinary medicine | Homozygosity | Modulators | Defects | Gene sequencing | Proteins | Signal transduction | Rodents | Bipolar cells | Synaptic ribbons | Dendrites | Terminals | University graduates | Night vision | Phenotypes | Congenital diseases | Immunomodulation | Gene expression | Electron microscopy | Spherules | Cones | Vision | Blindness | Photoreceptors | Mutation | Gene mapping | Stationary night blindness | Cellular structure | Pharmaceuticals | Index Medicus
Journal Article
BBA - Biomembranes, ISSN 0005-2736, 08/2014, Volume 1838, Issue 8, pp. 2053 - 2065
Journal Article
Cellular Signalling, ISSN 0898-6568, 11/2013, Volume 25, Issue 11, pp. 2155 - 2162
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 03/2017, Volume 58, Issue 3, pp. 1768 - 1778
PURPOSE. Mutations in LRIT3 lead to complete congenital stationary night blindness (cCSNB). Using a cCSNB mouse model lacking Lrit3 (nob6), we recently have... 
Retina | Congenital stationary night blindness | Multielectrode array | Electron microscopy | LRIT3 | METABOTROPIC GLUTAMATE-RECEPTOR | PHOTORECEPTOR SYNAPSES | congenital stationary night blindness | OUTER PLEXIFORM LAYER | MAMMALIAN RETINA | RETINAL GANGLION-CELLS | multielectrode array | retina | MGLUR6 | OPHTHALMOLOGY | electron microscopy | MOUSE RETINA | NORMAL LIGHT | STATIONARY NIGHT BLINDNESS | VISUAL RESPONSES | Immunohistochemistry | Synaptic Transmission - genetics | Night Blindness - metabolism | Humans | Male | Dendrites - ultrastructure | Retinal Cone Photoreceptor Cells - ultrastructure | Myopia - metabolism | Young Adult | Synapses - metabolism | DNA Mutational Analysis | Night Blindness - pathology | Female | Genetic Diseases, X-Linked - genetics | Membrane Proteins - metabolism | Retrospective Studies | Night Blindness - genetics | Electroretinography | Dendrites - metabolism | Retinal Bipolar Cells - metabolism | Eye Diseases, Hereditary - pathology | Membrane Proteins - genetics | Myopia - pathology | Synapses - ultrastructure | Genetic Diseases, X-Linked - metabolism | Microscopy, Electron | Eye Diseases, Hereditary - genetics | Mice, Knockout | DNA - genetics | Myopia - genetics | Animals | Retinal Bipolar Cells - ultrastructure | Genetic Diseases, X-Linked - pathology | Mice | Mutation | Retinal Cone Photoreceptor Cells - metabolism | Eye Diseases, Hereditary - metabolism | Index Medicus | Life Sciences | Human health and pathology | Sensory Organs | Visual Neuroscience
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2013, Volume 8, Issue 10, pp. e78280 - e78280
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 06/2014, Volume 23, Issue 11, pp. 2981 - 2994
Mutations in the human CACNA1F gene cause incomplete congenital stationary night blindness type 2 (CSNB2), a non-progressive, clinically heterogeneous retinal... 
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