A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
about
SPACRCAN, a novel human interphotoreceptor matrix hyaluronan-binding proteoglycan synthesized by photoreceptors and pinealocytesBestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epitheliumComparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxiaVitamin E supplementation and macular degeneration: randomised controlled trial.Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene.Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degenerationClinical application of exome sequencing in undiagnosed genetic conditionsMolecular genetic heterogeneity in autosomal dominant drusenConcise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye DiseaseThe proteomics of drusenEFEMP1 is not associated with sporadic early onset drusenAnalysis of the Arg345Trp disease-associated allele of the EFEMP1 gene in individuals with early onset drusen or familial age-related macular degenerationEvaluation of the G protein coupled receptor-75 (GPR75) in age related macular degenerationHemicentins assemble on diverse epithelia in the mouseBiological Characterization of Gene Response to Insulin-Induced Hypoglycemia in Mouse RetinaDissection of genomewide-scan data in extended families reveals a major locus and oligogenic susceptibility for age-related macular degenerationExome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma.Genetic variations strongly influence phenotypic outcome in the mouse retina.Changing therapeutic paradigms for exudative age-related macular degeneration: antiangiogenic agents and photodynamic therapy.Ocular perfusion and age-related macular degeneration.Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy).D-TAT transporter as an ocular peptide delivery system.Macular degeneration: recent advances and therapeutic opportunities.Age-related macular degeneration: a perspective on genetic studies.Expressed sequence tag analysis of adult human optic nerve for NEIBank: identification of cell type and tissue markers.Fibulin 2, a tyrosine O-sulfated protein, is up-regulated following retinal detachment.Identification of a preneoplastic gene expression profile in tubal epithelium of BRCA1 mutation carriers.The tissue inhibitors of metalloproteinases (TIMPs): an ancient family with structural and functional diversityRetinal ultrastructure of murine models of dry age-related macular degeneration (AMD).Mutant Fibulin-3 Causes Proteoglycan Accumulation and Impaired Diffusion Across Bruch's Membrane.Genetic susceptibility to age related macular degeneration.A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family.Unraveling the mechanism of elastic fiber assembly: The roles of short fibulinsA whole-genome screen of a quantitative trait of age-related maculopathy in sibships from the Beaver Dam Eye StudyA genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions.Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration.Advanced glycation endproduct-induced aging of the retinal pigment epithelium and choroid: a comprehensive transcriptional response.Human fibulin-4: analysis of its biosynthetic processing and mRNA expression in normal and tumour tissues.Central areolar choroidal dystrophy associated with dominantly inherited drusen.Focus on molecules: fibulin-3 (EFEMP1).
P2860
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P2860
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
A single EFEMP1 mutation assoc ...... ne honeycomb retinal dystrophy
@ast
A single EFEMP1 mutation assoc ...... ne honeycomb retinal dystrophy
@en
A single EFEMP1 mutation assoc ...... ne honeycomb retinal dystrophy
@en-gb
A single EFEMP1 mutation assoc ...... ne honeycomb retinal dystrophy
@nl
type
label
A single EFEMP1 mutation assoc ...... ne honeycomb retinal dystrophy
@ast
A single EFEMP1 mutation assoc ...... ne honeycomb retinal dystrophy
@en
A single EFEMP1 mutation assoc ...... ne honeycomb retinal dystrophy
@en-gb
A single EFEMP1 mutation assoc ...... ne honeycomb retinal dystrophy
@nl
prefLabel
A single EFEMP1 mutation assoc ...... ne honeycomb retinal dystrophy
@ast
A single EFEMP1 mutation assoc ...... ne honeycomb retinal dystrophy
@en
A single EFEMP1 mutation assoc ...... ne honeycomb retinal dystrophy
@en-gb
A single EFEMP1 mutation assoc ...... ne honeycomb retinal dystrophy
@nl
P2093
P50
P3181
P356
P1433
P1476
A single EFEMP1 mutation assoc ...... ne honeycomb retinal dystrophy
@en
P2093
Hageman GS
Nishimura D
Schorderet DF
Silvestri G
P2888
P304
P3181
P356
10.1038/9722
P407
P577
1999-06-01T00:00:00Z
P5875
P6179
1015441105