Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.
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Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindnessMutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindnessGPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindnessMutations in TRPM1 are a common cause of complete congenital stationary night blindnessWhole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophyRetinal remodeling in human retinitis pigmentosaRetinal dystrophies, genomic applications in diagnosis and prospects for therapyGenetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutionsRod-driven OFF pathway responses in the distal retina: dark-adapted flicker electroretinogram in mouseTRPM1 is required for the depolarizing light response in retinal ON-bipolar cellsLrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindnessMetabotropic glutamate receptors: from the workbench to the bedside.TRPM1 mutations are associated with the complete form of congenital stationary night blindnessAn extended 15 Hz ERG protocol (2): data of normal subjects and patients with achromatopsia, CSNB1, and CSNB2.Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindnessA mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.Novel expression patterns of metabotropic glutamate receptor 6 in the zebrafish nervous system.Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindnessEfficient transduction and optogenetic stimulation of retinal bipolar cells by a synthetic adeno-associated virus capsid and promoter.Assessment of night vision problems in patients with congenital stationary night blindnessTRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.Voriconazole, an antifungal triazol that causes visual side effects, is an inhibitor of TRPM1 and TRPM3 channelsTRPM1 forms complexes with nyctalopin in vivo and accumulates in postsynaptic compartment of ON-bipolar neurons in mGluR6-dependent manner.Differential function of Gγ13 in rod bipolar and ON cone bipolar cells.ON pathway mutations increase susceptibility to form-deprivation myopia.GNAT1 associated with autosomal recessive congenital stationary night blindness.Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.Identification of a new mutant allele, Grm6(nob7), for complete congenital stationary night blindnessAssessing retinal structure in complete congenital stationary night blindness and Oguchi diseaseClinical disorders affecting mesopic vision.Depolarizing bipolar cell dysfunction due to a Trpm1 point mutation.Photoreceptor and postreceptor responses in congenital stationary night blindness.Generation, identification and functional characterization of the nob4 mutation of Grm6 in the mouse.Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model.Sequence variations of GRM6 in patients with high myopia.Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohortRetinal remodeling.Mouse b-wave mutants.G protein signaling in the retina and beyond: the Cogan lecture
P2860
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P2860
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.
description
2005 nî lūn-bûn
@nan
2005 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Mutations in GRM6 cause autoso ...... -Hz flicker electroretinogram.
@ast
Mutations in GRM6 cause autoso ...... -Hz flicker electroretinogram.
@en
Mutations in GRM6 cause autoso ...... -Hz flicker electroretinogram.
@nl
type
label
Mutations in GRM6 cause autoso ...... -Hz flicker electroretinogram.
@ast
Mutations in GRM6 cause autoso ...... -Hz flicker electroretinogram.
@en
Mutations in GRM6 cause autoso ...... -Hz flicker electroretinogram.
@nl
altLabel
Mutations inGRM6Cause Autosoma ...... 5-Hz Flicker Electroretinogram
@en
prefLabel
Mutations in GRM6 cause autoso ...... -Hz flicker electroretinogram.
@ast
Mutations in GRM6 cause autoso ...... -Hz flicker electroretinogram.
@en
Mutations in GRM6 cause autoso ...... -Hz flicker electroretinogram.
@nl
P2093
P356
P1476
Mutations in GRM6 cause autoso ...... 5-Hz flicker electroretinogram
@en
P2093
Carel B Hoyng
Frank Hoeben
Frans P M Cremers
Frans Riemslag
Françoise Meire
John Neidhardt
Katharina Wycisk
Maria van Genderen
Ulrich F O Luhmann
Ursula Forster
P304
P356
10.1167/IOVS.05-0526
P407
P577
2005-11-01T00:00:00Z