Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.
about
Retinal dystrophies, genomic applications in diagnosis and prospects for therapyPredicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front.Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.Retinol dehydrogenase 8 and ATP-binding cassette transporter 4 modulate dark adaptation of M-cones in mammalian retina.microRNA regulatory circuits in a mouse model of inherited retinal degeneration.Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent.Towards Treatment of Stargardt Disease: Workshop Organized and Sponsored by the Foundation Fighting Blindness.A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration.Retinal-chitosan conjugates effectively deliver active chromophores to retinal photoreceptor cells in blind mice and dogs.Express: A database of transcriptome profiles encompassing known and novel transcripts across multiple development stages in eye tissues.The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.A novel small molecule chaperone of rod opsin and its potential therapy for retinal degeneration.Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease.Two-photon imaging of the mammalian retina with ultrafast pulsing laser
P2860
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P2860
Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.
@ast
Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.
@en
type
label
Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.
@ast
Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.
@en
prefLabel
Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.
@ast
Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.
@en
P2093
P2860
P50
P356
P1476
Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.
@en
P2093
Akiko Maeda
Alexander V Kolesnikov
Artur V Cideciyan
Grazyna Palczewska
Malgorzata Rozanowska
Malgorzata Swider
Ning Zhang
Sharon B Schwartz
Yaroslav Tsybovsky
P2860
P304
P356
10.1093/HMG/DDV073
P577
2015-02-24T00:00:00Z