The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
about
Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.Identification and validation of PROM1 and CRTC2 mutations in lung cancer patientsMutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.Fundus Autofluorescence and RPE Lipofuscin in Age-Related Macular DegenerationMolecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesNGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies.The Silk-protein Sericin Induces Rapid Melanization of Cultured Primary Human Retinal Pigment Epithelial Cells by Activating the NF-κB Pathway.Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family.A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.A novel strategy to enhance angiogenesis in vivo using the small VEGF-binding peptide PR1P.Molecular basis for photoreceptor outer segment architecture.Commentary: "prom1 function in development, intestinal inflammation, and intestinal tumorigenesis".Panel-Based Population Next-Generation Sequencing for Inherited Retinal DegenerationsIdentification of three prominin homologs and characterization of their messenger RNA expression in Xenopus laevis tissues.Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy.Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.The stem cell marker prominin-1/CD133 interacts with vascular endothelial growth factor and potentiates its action.Juvenile Macular Degenerations.Genetic identification and molecular modeling characterization reveal a novel PROM1 mutation in Stargardt4-like macular dystrophy.Quantitative Fundus Autofluorescence in Best Vitelliform Macular Dystrophy: RPE Lipofuscin is not Increased in Non-Lesion Areas of Retina.PROM1 gene variations in Brazilian patients with macular dystrophy.Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.
P2860
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P2860
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
description
2010 nî lūn-bûn
@nan
2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
The PROM1 mutation p.R373C cau ...... d-cone, and macular dystrophy.
@ast
The PROM1 mutation p.R373C cau ...... d-cone, and macular dystrophy.
@en
The PROM1 mutation p.R373C cau ...... d-cone, and macular dystrophy.
@nl
type
label
The PROM1 mutation p.R373C cau ...... d-cone, and macular dystrophy.
@ast
The PROM1 mutation p.R373C cau ...... d-cone, and macular dystrophy.
@en
The PROM1 mutation p.R373C cau ...... d-cone, and macular dystrophy.
@nl
prefLabel
The PROM1 mutation p.R373C cau ...... d-cone, and macular dystrophy.
@ast
The PROM1 mutation p.R373C cau ...... d-cone, and macular dystrophy.
@en
The PROM1 mutation p.R373C cau ...... d-cone, and macular dystrophy.
@nl
P2093
P2860
P356
P1476
The PROM1 mutation p.R373C cau ...... od-cone, and macular dystrophy
@en
P2093
Andrew R Webster
Anthony T Moore
Daniel Barthelmes
Daniel F Schorderet
David M Hunt
Edward White
Francis L Munier
François-Xavier Borruat
Graham E Holder
Kang Zhang
P2860
P304
P356
10.1167/IOVS.09-4561
P407
P50
P577
2010-04-14T00:00:00Z