A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
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Retinal dystrophies, genomic applications in diagnosis and prospects for therapyGene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 AchromatopsiaMutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsiaGenomic evidence for rod monochromacy in sloths and armadillos suggests early subterranean history for XenarthraA Quantitative and Qualitative Exploration of Photoaversion in Achromatopsia.A prospective longitudinal study of retinal structure and function in achromatopsia.Dark-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 achromatopsiaClinical characteristics and current therapies for inherited retinal degenerationsTargeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory.Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.Mutation of ATF6 causes autosomal recessive achromatopsia.Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with 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 DiseasesSafety 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.Rhodopsin F45L Allele Does Not Cause Autosomal Dominant Retinitis Pigmentosa in a Large Caucasian Family.Retinal structure and function in achromatopsia: implications for gene therapy.Gene Augmentation Therapy for a Missense Substitution in the cGMP-Binding Domain of Ovine CNGA3 Gene Restores Vision in Day-Blind Sheep.Achromatopsia: case presentation and literature review emphasising the value of spectral domain optical coherence tomography.Rip3 knockdown rescues photoreceptor cell death in blind pde6c zebrafishEndoplasmic reticulum stress in human photoreceptor diseases.Novel CNGA3 mutations in Chinese patients with achromatopsia.MEF2D drives photoreceptor development through a genome-wide competition for tissue-specific enhancers.The cone dysfunction syndromes.Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan.Aryl Hydrocarbon Receptor-interacting Protein-like 1 Is an Obligate Chaperone of Phosphodiesterase 6 and Is Assisted by the γ-Subunit of Its Client.Safety and Efficacy of AAV5 Vectors Expressing Human or Canine CNGB3 in CNGB3-Mutant Dogs.Long-term retinal cone rescue using a capsid mutant AAV8 vector in a mouse model of CNGA3-achromatopsia.Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options.CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.Mef2d is essential for the maturation and integrity of retinal photoreceptor and bipolar cells.Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant.Gene Therapy for Color Blindness.Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.
P2860
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P2860
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
@ast
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
@en
type
label
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
@ast
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
@en
prefLabel
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
@ast
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
@en
P2093
P2860
P50
P1476
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
@en
P2093
Anneke I den Hollander
Bernd Wissinger
Carel B Hoyng
Christina Brennenstuhl
European Retinal Disease Consortium
Frans C C Riemslag
Frans P M Cremers
Françoise Meire
Maria M van Genderen
Robert Lukowski
P2860
P304
P356
10.1016/J.AJHG.2012.07.006
P407
P577
2012-08-16T00:00:00Z