Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6 - Wikidata - thesis-toulmin - TriplyDB

Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6

Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6

http://www.wikidata.org/entity/Q24555742

about

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans Mutations in TRPM1 are a common cause of complete congenital stationary night blindness The genetics of normal and defective color vision Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus)Mutations in NYX of individuals with high myopia, but without night blindness Retinal remodeling in human retinitis pigmentosa Retinal dystrophies, genomic applications in diagnosis and prospects for therapy A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade Rod-driven OFF pathway responses in the distal retina: dark-adapted flicker electroretinogram in mouse TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)Metabotropic glutamate receptors: from the workbench to the bedside.Estimating ON and OFF contributions to the photopic hill: normative data and clinical applications.An asymmetric outer retinal response to drifting sawtooth gratings Maturation arrest in early postnatal sensory receptors by deletion of the miR-183/96/182 cluster in mouse.Preferential binding of allosteric modulators to active and inactive conformational states of metabotropic glutamate receptors.A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype Temporal ChIP-on-Chip of RNA-Polymerase-II to detect novel gene activation events during photoreceptor maturation.SIRT6 is required for normal retinal function TRPM1 mutations are associated with the complete form of congenital stationary night blindness Identification of autoantibodies against TRPM1 in patients with paraneoplastic retinopathy associated with ON bipolar cell dysfunction An extended 15 Hz ERG protocol (2): data of normal subjects and patients with achromatopsia, CSNB1, and CSNB2.A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.Neurobiological hypothesis of color appearance and hue perception Novel expression patterns of metabotropic glutamate receptor 6 in the zebrafish nervous system.The neuronal organization of the retina.Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness Curing color blindness--mice and nonhuman primates Assessment of night vision problems in patients with congenital stationary night blindness TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.Degeneration of retinal on bipolar cells induced by serum including autoantibody against TRPM1 in mouse model of paraneoplastic retinopathy Voriconazole, an antifungal triazol that causes visual side effects, is an inhibitor of TRPM1 and TRPM3 channels Sensitivity and kinetics of signal transmission at the first visual synapse differentially impact visually-guided behavior.ON pathway mutations increase susceptibility to form-deprivation myopia.GNAT1 associated with autosomal recessive congenital stationary night blindness.Possible roles of glutamate transporter EAAT5 in mouse cone depolarizing bipolar cell light responses

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Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6

http://www.wikidata.org/entity/Q24555742

description

2005 nî lūn-bûn

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2005 թուականի Մարտին հրատարակուած գիտական յօդուած

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2005 թվականի մարտին հրատարակված գիտական հոդված

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2005年の論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年论文

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name

Night blindness and abnormal c ...... the GRM6 gene encoding mGluR6

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Night blindness and abnormal c ...... the GRM6 gene encoding mGluR6

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Night blindness and abnormal c ...... the GRM6 gene encoding mGluR6

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Night blindness and abnormal c ...... the GRM6 gene encoding mGluR6

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Night blindness and abnormal c ...... the GRM6 gene encoding mGluR6

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Night blindness and abnormal c ...... the GRM6 gene encoding mGluR6

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Night blindness and abnormal c ...... the GRM6 gene encoding mGluR6

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Night blindness and abnormal c ...... the GRM6 gene encoding mGluR6

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Night blindness and abnormal c ...... the GRM6 gene encoding mGluR6

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PNAS.0501233102

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Proceedings of the National Academy of Sciences of the United States of America

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Night blindness and abnormal c ...... the GRM6 gene encoding mGluR6

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Aruna S Rajagopalan

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Deborah J Derlacki

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Eliot L Berson

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Gerald A Fishman

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Kenneth R Alexander

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Michael A Sandberg

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Terri L McGee

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Thaddeus P Dryja

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P2860

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

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

The whole nucleotide sequence and chromosomal localization of the gene for human metabotropic glutamate receptor subtype 6

Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness

Gap junctions between photoreceptor cells in the vertebrate retina

Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia

Structural basis of glutamate recognition by a dimeric metabotropic glutamate receptor

Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness

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

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4884-9

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10.1073/PNAS.0501233102

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13

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102

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2005-03-29T00:00:00Z

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7952989

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15781871

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