Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel
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Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsiaCNGA3 mutations in hereditary cone photoreceptor disordersHomozygosity mapping of the Achromatopsia locus in the PingelapeseA novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degenerationGene therapy rescues cone function in congenital achromatopsia.Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfectaThe pharmacology of cyclic nucleotide-gated channels: emerging from the darknessRetinal dystrophies, genomic applications in diagnosis and prospects for therapyAdvances in understanding the molecular basis of the first steps in color visionAAV-mediated gene therapy in mouse models of recessive retinal degenerationA comprehensive review of retinal gene therapyCanine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and TreatmentGene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 AchromatopsiaBiology and therapy of inherited retinal degenerative disease: insights from mouse modelsMutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsiaFunctional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunitCompound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsiaPhototransduction in transgenic mice after targeted deletion of the rod transducin alpha -subunitCloning and immunocytochemical localization of a cyclic nucleotide-gated channel alpha-subunit to all cone photoreceptors in the mouse retinaCyclic nucleotide-gated channel α-3 (CNGA3) interacts with stereocilia tip-link cadherin 23 + exon 68 or alternatively with myosin VIIa, two proteins required for hair cell mechanotransductionGenomic evidence for rod monochromacy in sloths and armadillos suggests early subterranean history for XenarthraAAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsiaREPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA.Restoration of cone vision in the CNGA3-/- mouse model of congenital complete lack of cone photoreceptor functionStructure of the SthK carboxy-terminal region reveals a gating mechanism for cyclic nucleotide-modulated ion channelsA study of candidate genes for day blindness in the standard wire haired dachshundContribution of the cyclic nucleotide gated channel subunit, CNG-3, to olfactory plasticity in Caenorhabditis elegansThe disease-causing mutations in the carboxyl terminus of the cone cyclic nucleotide-gated channel CNGA3 subunit alter the local secondary structure and interfere with the channel active conformational change.Phototransduction in mouse rods and cones.An extended 15 Hz ERG protocol (2): data of normal subjects and patients with achromatopsia, CSNB1, and CSNB2.A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate.Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels.Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials.CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.New aspects of an old theme: the genetic basis of human color vision.Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia.Five novel CNGB3 gene mutations in Polish patients with achromatopsiaGrueneberg ganglion olfactory subsystem employs a cGMP signaling pathway.
P2860
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P2860
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel
description
1998 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 1998
@ast
im Juli 1998 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1998/07/01)
@sk
vědecký článek publikovaný v roce 1998
@cs
wetenschappelijk artikel (gepubliceerd op 1998/07/01)
@nl
наукова стаття, опублікована в липні 1998
@uk
name
Total colourblindness is cause ...... ptor cGMP-gated cation channel
@ast
Total colourblindness is cause ...... ptor cGMP-gated cation channel
@en
Total colourblindness is cause ...... ptor cGMP-gated cation channel
@nl
type
label
Total colourblindness is cause ...... ptor cGMP-gated cation channel
@ast
Total colourblindness is cause ...... ptor cGMP-gated cation channel
@en
Total colourblindness is cause ...... ptor cGMP-gated cation channel
@nl
prefLabel
Total colourblindness is cause ...... ptor cGMP-gated cation channel
@ast
Total colourblindness is cause ...... ptor cGMP-gated cation channel
@en
Total colourblindness is cause ...... ptor cGMP-gated cation channel
@nl
P2093
P3181
P356
P1433
P1476
Total colourblindness is cause ...... ptor cGMP-gated cation channel
@en
P2093
B. Wissinger
E. Apfelstedt-Sylla
E. Zrenner
L. T. Sharpe
S. G. Jacobson
P2888
P304
P3181
P356
10.1038/935
P407
P577
1998-07-01T00:00:00Z