Cellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 gene - Wikidata - awgldk - TriplyDB

Cellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 gene

Cellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 gene

http://www.wikidata.org/entity/Q37343608

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Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration.Noninvasive, in vivo assessment of mouse retinal structure using optical coherence tomography Transplantation of reprogrammed embryonic stem cells improves visual function in a mouse model for retinitis pigmentosa.Optimization of in vivo confocal autofluorescence imaging of the ocular fundus in mice and its application to models of human retinal degeneration.Fundus autofluorescence and photoreceptor cell rosettes in mouse models.Fundus autofluorescence findings in a mouse model of retinal detachment.Disruption of the human cone photoreceptor mosaic from a defect in NR2E3 transcription factor function in young adults.Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa.A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model Hyperautofluorescent macular ring in a series of patients with enhanced S-cone syndrome.Expanded clinical spectrum of enhanced S-cone syndrome Clinical presentations of X-linked retinoschisis in Taiwanese patients confirmed with genetic sequencing.CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model Multimodal imaging in hereditary retinal diseases.Therapeutic margins in a novel preclinical model of retinitis pigmentosa.Origin of fundus hyperautofluorescent spots and their role in retinal degeneration in a mouse model of Goldmann-Favre syndrome Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain.In Vivo Imaging of Cx3cr1gfp/gfp Reporter Mice with Spectral-domain Optical Coherence Tomography and Scanning Laser Ophthalmoscopy.Fundus autofluorescence imaging in hereditary retinal diseases.Goldmann-Favre Syndrome: Case Series.

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P2860

Cellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 gene

http://www.wikidata.org/entity/Q37343608

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 07 May 2009

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Cellular origin of fundus auto ...... ce with a defective NR2E3 gene

@en

Cellular origin of fundus auto ...... e with a defective NR2E3 gene.

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type

label

Cellular origin of fundus auto ...... ce with a defective NR2E3 gene

@en

Cellular origin of fundus auto ...... e with a defective NR2E3 gene.

@nl

prefLabel

Cellular origin of fundus auto ...... ce with a defective NR2E3 gene

@en

Cellular origin of fundus auto ...... e with a defective NR2E3 gene.

@nl

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P356

BJO.2008.153577

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British Journal of Ophthalmology

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Cellular origin of fundus auto ...... ce with a defective NR2E3 gene

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P2093

C L Chou

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

C-S Lin

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H F Fine

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J Tosi

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N-K Wang

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S Chang

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S H Tsang

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T Nagasaki

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W Cella

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P2860

The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration

An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome

Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa

Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice.

Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.

The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes.

Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.

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1234-1240

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scholarly article

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10.1136/BJO.2008.153577

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19429590

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