NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). (Q37589555)

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English	NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

21 August 2017

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Europe PubMed Central

NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). (English)

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Europe PubMed Central

PubMed publication ID

21 August 2017

retinal degeneration

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retinitis pigmentosa

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author name string

Daniel F Schorderet

1

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Europe PubMed Central

PubMed publication ID

21 August 2017

Pascal Escher

2

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Europe PubMed Central

PubMed publication ID

21 August 2017

language of work or name

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based on heuristic

inferred from title

publication date

1 November 2009

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Europe PubMed Central

PubMed publication ID

21 August 2017

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Europe PubMed Central

PubMed publication ID

21 August 2017

30

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Europe PubMed Central

PubMed publication ID

21 August 2017

11

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Europe PubMed Central

PubMed publication ID

21 August 2017

1475-1485

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Europe PubMed Central

PubMed publication ID

21 August 2017

A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse

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The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

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7 January 2021

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Phenotypic variation in enhanced S-cone syndrome

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7 January 2021

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The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients

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Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies

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7 January 2021

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Anatomical profiling of nuclear receptor expression reveals a hierarchical transcriptional network

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7 January 2021

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Expression of photoreceptor-specific nuclear receptor NR2E3 in rod photoreceptors of fetal human retina

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7 January 2021

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

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Crx, a Novel Otx-like Paired-Homeodomain Protein, Binds to and Transactivates Photoreceptor Cell-Specific Genes

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Retina-specific nuclear receptor: A potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Müller glial cells

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

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Effects of L1 retrotransposon insertion on transcript processing, localization and accumulation: lessons from the retinal degeneration 7 mouse and implications for the genomic ecology of L1 elements

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7 January 2021

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Genetic ablation of cone photoreceptors eliminates retinal folds in the retinal degeneration 7 (rd7) mouse

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7 January 2021

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Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors

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In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development

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Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3.

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7 January 2021

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

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7 January 2021

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A hybrid photoreceptor expressing both rod and cone genes in a mouse model of enhanced S-cone syndrome.

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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7 January 2021

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Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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[Two cases of hyaloid-retinal degeneration]

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Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

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7 January 2021

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Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation.

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7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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The Enhanced S Cone Syndrome: An Analysis of Receptoral and Post-receptoral Changes

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.21096

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

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation.

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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Mapping of genetic modifiers of Nr2e3 rd7/rd7 that suppress retinal degeneration and restore blue cone cells to normal quantity

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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Retinitis pigmentosa

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

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Optical coherence tomography in enhanced S-cone syndrome: large macular retinoschisis with disorganized retinal lamination

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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Enhanced S cone syndrome: evidence for an abnormally large number of S cones

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7 January 2021

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Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide

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7 January 2021

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Relatively enhanced S cone function in the Goldmann-Favre syndrome.

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7 January 2021

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Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration

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7 January 2021

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Clinical findings in autosomal recessive syndrome of blue cone hypersensitivity

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7 January 2021

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The enhanced S-cone syndrome in children.

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7 January 2021

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Identification of a photoreceptor cell-specific nuclear receptor

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7 January 2021

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Expression and functional analysis of Nr2e3, a photoreceptor-specific nuclear receptor, suggest common mechanisms in retinal development between avians and mammals.

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Atypical Mild Enhanced S-Cone Syndrome with Novel Compound Heterozygosity of the NR2E3 Gene

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The nuclear receptor superfamily: the second decade

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Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity.

1 reference

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A teenager with nightblindness and cystic maculopathy: enhanced S cone syndrome (Goldmann-Favre syndrome)

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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Nrl is required for rod photoreceptor development

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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

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7 January 2021

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Enhanced S-cone syndrome with subfoveal neovascularization.

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X).

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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A thyroid hormone receptor that is required for the development of green cone photoreceptors

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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Rod differentiation factor NRL activates the expression of nuclear receptor NR2E3 to suppress the development of cone photoreceptors

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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Pias3-dependent SUMOylation directs rod photoreceptor development

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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Phenotypic features of patients with NR2E3 mutations.

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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Activation of the blue opsin gene in cone photoreceptor development by retinoid-related orphan receptor beta

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7 January 2021

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A cell cycle-dependent co-repressor mediates photoreceptor cell-specific nuclear receptor function

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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Clinical and histopathologic findings in clumped pigmentary retinal degeneration

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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Physiological function of S-cone system is not enhanced in rd7 mice

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritance.

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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Dual role of Nr2e3 in photoreceptor development and maintenance

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7 January 2021

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Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)

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Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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Identification of potent agonists of photoreceptor-specific nuclear receptor (NR2E3) and preparation of a radioligand

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.21096

7 January 2021

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Electroretinograms and visual evoked potentials elicited by spectral stimuli in a patient with enhanced S-cone syndrome

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7 January 2021

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Identifiers

10.1002/HUMU.21096

1 reference

Europe PubMed Central

PubMed publication ID

21 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

21 August 2017

ResearchGate publication ID

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