Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness - Wikidata - awgldk - TriplyDB

Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness

Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness

http://www.wikidata.org/entity/Q34105223

about

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness Mutations in TRPM1 are a common cause of complete congenital stationary night blindness Synaptic remodeling of neuronal circuits in early retinal degeneration The dynamic architecture of photoreceptor ribbon synapses: cytoskeletal, extracellular matrix, and intramembrane proteins A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness Topological analysis of small leucine-rich repeat proteoglycan nyctalopin Estimating ON and OFF contributions to the photopic hill: normative data and clinical applications.Light-evoked responses of the retinal pigment epithelium: changes accompanying photoreceptor loss in the mouse.An extended 15 Hz ERG protocol (2): data of normal subjects and patients with achromatopsia, CSNB1, and CSNB2.Oligomeric state of purified transient receptor potential melastatin-1 (TRPM1), a protein essential for dim light vision.Assessment of night vision problems in patients with congenital stationary night blindness A role for nyctalopin, a small leucine-rich repeat protein, in localizing the TRP melastatin 1 channel to retinal depolarizing bipolar cell dendrites NYX mutations in four families with high myopia with or without CSNB1 TRPM1 forms complexes with nyctalopin in vivo and accumulates in postsynaptic compartment of ON-bipolar neurons in mGluR6-dependent manner.Perfusion fixation preserves enhanced yellow fluorescent protein and other cellular markers in lymphoid tissues mGluR6 deletion renders the TRPM1 channel in retina inactive.The Effect of PKCα on the Light Response of Rod Bipolar Cells in the Mouse Retina The mode of retinal presynaptic inhibition switches with light intensity.Selective glycine receptor α2 subunit control of crossover inhibition between the on and off retinal pathways.Identification of a new mutant allele, Grm6(nob7), for complete congenital stationary night blindness Depolarizing bipolar cell dysfunction due to a Trpm1 point mutation.Postreceptoral contributions to the light-adapted ERG of mice lacking b-waves.Refinement of the retinogeniculate pathway.Comparisons of structural and functional abnormalities in mouse b-wave mutants.Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model.Patch Clamp Recording of Starburst Amacrine Cells in a Flat-mount Preparation of Deafferentated Mouse Retina.Naturally occurring animal models with outer retina phenotypes.Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells.GPR179 is required for high sensitivity of the mGluR6 signaling cascade in depolarizing bipolar cells.Mouse b-wave mutants.Functional architecture of the retina: development and disease.The Transduction Cascade in Retinal ON-Bipolar Cells: Signal Processing and Disease."mGlu Receptors in the Retina" - WIREs Membrane Transport and Signaling.CACNA1S expression in mouse retina: Novel isoforms and antibody cross-reactivity with GPR179.Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete congenital stationary night blindness.A transient receptor potential-like channel mediates synaptic transmission in rod bipolar cells.Allelic variance between GRM6 mutants, Grm6nob3 and Grm6nob4 results in differences in retinal ganglion cell visual responses.Response properties of slow PIII in the Large (vls) mutant.

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Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness

http://www.wikidata.org/entity/Q34105223

description

2007 nî lūn-bûn

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2007 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2007 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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Nyctalopin expression in retin ...... tal stationary night blindness

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Nyctalopin expression in retin ...... tal stationary night blindness

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Nyctalopin expression in retin ...... tal stationary night blindness

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Jan Klooster

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Kirstan A Vessey

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Maarten Kamermans

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Neal S Peachey

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Peter D Lukasiewicz

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P2860

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

An analysis of vertebrate mRNA sequences: intimations of translational control

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

Identification of the gene and the mutation responsible for the mouse nob phenotype

Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness

Elimination of the rho1 subunit abolishes GABA(C) receptor expression and alters visual processing in the mouse retina

Genetic inactivation of an inwardly rectifying potassium channel (Kir4.1 subunit) in mice: phenotypic impact in retina

Stimulus size and intensity alter fundamental receptive-field properties of mouse retinal ganglion cells in vivo

Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene.

Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina.

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3023-3033

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10.1152/JN.00608.2007

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5

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98

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Maureen A. McCall

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2007-09-19T00:00:00Z

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5962565

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17881478

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P921

congenital stationary night blindness

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2933657

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