CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
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Gene therapy rescues cone function in congenital achromatopsia.The pharmacology of cyclic nucleotide-gated channels: emerging from the darknessRetinal dystrophies, genomic applications in diagnosis and prospects for therapyAAV-mediated gene therapy in mouse models of recessive retinal degenerationAdaptive optics ophthalmoscopy.Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 AchromatopsiaCompound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsiaRestoration of cone vision in a mouse model of achromatopsiaAAV-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 functionGenotype and allelic frequencies of a newly identified mutation causing blindness in jordanian awassi sheep flocks.A Quantitative and Qualitative Exploration of Photoaversion in Achromatopsia.Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone functionDark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials.Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone healthGenomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia.Five novel CNGB3 gene mutations in Polish patients with achromatopsiaEarly-onset, slow progression of cone photoreceptor dysfunction and degeneration in CNG channel subunit CNGB3 deficiency.Clinical utility gene card for: achromatopsiaLong-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapyTargeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory.Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.Flicker cone function in normal and day blind sheep: a large animal model for human achromatopsia caused by CNGA3 mutationVitreal delivery of AAV vectored Cnga3 restores cone function in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsiaInherited macular degeneration-associated mutations in CNGB3 increase the ligand sensitivity and spontaneous open probability of cone cyclic nucleotide-gated channelsDecreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsiaCNGA3 deficiency affects cone synaptic terminal structure and function and leads to secondary rod dysfunction and degeneration.Intravitreal Ciliary Neurotrophic Factor Transiently Improves Cone-Mediated Function in a CNGB3-/- Mouse Model of Achromatopsia.Achromatopsia caused by novel missense mutations in the CNGA3 gene.AAV-Mediated Gene Supplementation Therapy in Achromatopsia Type 2: Preclinical Data on Therapeutic Time Window and Long-Term EffectsCone-Specific Promoters for Gene Therapy of Achromatopsia and Other Retinal DiseasesCNGA3 mutations in two United Arab Emirates families with achromatopsia.Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of AchromatopsiaSafety and Biodistribution Evaluation in CNGB3-Deficient Mice of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia.The B3 Subunit of the Cone Cyclic Nucleotide-gated Channel Regulates the Light Responses of Cones and Contributes to the Channel Structural FlexibilityTransient photoreceptor deconstruction by CNTF enhances rAAV-mediated cone functional rescue in late stage CNGB3-achromatopsia.Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells.
P2860
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P2860
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
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
@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
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name
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
@ast
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
@en
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
@nl
type
label
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
@ast
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
@en
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
@nl
prefLabel
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
@ast
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
@en
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
@nl
P2093
P2860
P356
P1476
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
@en
P2093
Agnes Farkas
Balazs Varsanyi
Bernd Wissinger
Bernhard Jurklies
Birgit Lorenz
Britta Baumann
Carel B Hoyng
Claudio Castellan
Eberhart Zrenner
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5201269
P577
2005-03-01T00:00:00Z