ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. - Wikidata - wikimedia - TriplyDB

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.

http://www.wikidata.org/entity/Q46652702

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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 options Quantitative fundus autofluorescence in recessive Stargardt disease Expression, 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 degeneration Functional 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 Ireland Pharmacological correction of misfolding of ABC proteins.Posttranslational modifications of the photoreceptor-specific ABC transporter ABCA4 Analysis 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 maculopathy Potential 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 therapy ABCA4 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 families The 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 degeneration Juvenile-onset macular degeneration and allied disorders Phenotypic 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.

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P2860

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.

http://www.wikidata.org/entity/Q46652702

description

2005 nî lūn-bûn

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2005年の論文

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年學術文章

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2005年學術文章

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name

ABCA4 mutations causing misloc ...... th severe retinal dystrophies.

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ABCA4 mutations causing misloc ...... th severe retinal dystrophies.

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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

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P1433

Human Molecular Genetics

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ABCA4 mutations causing misloc ...... th severe retinal dystrophies.

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P2093

Alexander N Yatsenko

http://www.w3.org/2001/XMLSchema#string

Charles M Zaremba

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James R Lupski

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Milan Jamrich

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Richard Alan Lewis

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Wojciech Wiszniewski

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P2860

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease

Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease

Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration

Functional analysis of genetic mutations in nucleotide binding domain 2 of the human retina specific ABC transporter.

The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial.

Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration

Light exposure stimulates formation of A2E oxiranes in a mouse model of Stargardt's macular degeneration.

Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.

Immunocytochemical localization of a large intrinsic membrane protein to the incisures and margins of frog rod outer segment disks.

P304

2769-2778

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scholarly article

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10.1093/HMG/DDI310

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19

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14

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Theodore G. Wensel

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2005-08-15T00:00:00Z

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7657775

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16103129

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