ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
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Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP)Stargardt disease: clinical features, molecular genetics, animal models and therapeutic optionsQuantitative fundus autofluorescence in recessive Stargardt diseaseExpression, purification and structural properties of ABC transporter ABCA4 and its individual domains.The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease.Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degenerationFunctional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome.Correlations among near-infrared and short-wavelength autofluorescence and spectral-domain optical coherence tomography in recessive Stargardt disease.Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern IrelandPharmacological correction of misfolding of ABC proteins.Posttranslational modifications of the photoreceptor-specific ABC transporter ABCA4Analysis of the ABCA4 gene by next-generation sequencing.Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.Effect of rapamycin on the fate of P23H opsin associated with retinitis pigmentosa (an American Ophthalmological Society thesis).Familial discordance in Stargardt disease.Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.Quantitative Fundus Autofluorescence and Optical Coherence Tomography in ABCA4 Carriers.Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa.Reduced macular function in ABCA4 carriers.ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathyPotential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.Signal transducing membrane complexes of photoreceptor outer segments.ABCA4 disease progression and a proposed strategy for gene therapyABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis.Molecular chaperones and photoreceptor function.Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish familiesThe role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration.Association between genotype and phenotype in families with mutations in the ABCA4 gene.Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.Allelic and phenotypic heterogeneity in ABCA4 mutations.Protein misfolding and retinal degenerationJuvenile-onset macular degeneration and allied disordersPhenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy.Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease.Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration.ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.Peripheral pigmented retinal lesions in Stargardt disease.Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease.
P2860
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P2860
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
ABCA4 mutations causing misloc ...... th severe retinal dystrophies.
@en
ABCA4 mutations causing misloc ...... th severe retinal dystrophies.
@nl
type
label
ABCA4 mutations causing misloc ...... th severe retinal dystrophies.
@en
ABCA4 mutations causing misloc ...... th severe retinal dystrophies.
@nl
prefLabel
ABCA4 mutations causing misloc ...... th severe retinal dystrophies.
@en
ABCA4 mutations causing misloc ...... th severe retinal dystrophies.
@nl
P2093
P2860
P356
P1476
ABCA4 mutations causing misloc ...... th severe retinal dystrophies.
@en
P2093
Alexander N Yatsenko
Charles M Zaremba
James R Lupski
Milan Jamrich
Richard Alan Lewis
Wojciech Wiszniewski
P2860
P304
P356
10.1093/HMG/DDI310
P577
2005-08-15T00:00:00Z