Variant: rs28937873 

    present in Gene: NR2E3
    present in Chromosome: 15
    Position on Chromosome: 71813573
    Alleles of this Variant: G/A

rs28937873 in NR2E3 gene and Enhanced S-Cone Syndrome PMID 15689355 2005 The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes.

PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

PMID 11773633 2002 We studied the postmortem retina of an ESCS patient homozygous for NR2E3 R311Q.

PMID 10655056 2000 Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

PMID 19006237 2009 Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.

PMID 11071390 2000 The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

PMID 18294254 2008 Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.

PMID 19898638 2009 A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.

PMID 24069298 2013 The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation.

PMID 17438525 2007 Our analysis show that two ESCS mutations, missense mutations R385P and M407K, abolished NR2E3 repressive activity in the context of full-length and Gal4 chimeric receptors, while W234S and R311Q mutants retained their repressive activity in both assays.

rs28937873 in NR2E3 gene and Goldmann-Favre syndrome (disorder) PMID 19823680 2009 Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.

PMID 18294254 2008 Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.

PMID 18835469 2009 Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide.

PMID 17438525 2007 The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome.

PMID 10655056 2000 Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

PMID 28944237 2017 Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

PMID 19139342 2009 A fifth patient, a 10-year-old boy with heterozygotic mutations R311Q and delF71, had diminished foveal reflexes and subtle pigmentary changes, perhaps a forme fruste of Goldmann-Favre syndrome.

PMID 26894784 2016 Macular cystoid spaces in patients with retinal dystrophy.

PMID 27874104 2016 Identifying mutations in Tunisian families with retinal dystrophy.

PMID 11071390 2000 The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

PMID 16024868 2005 An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome.

PMID 26355662 2016 Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.

PMID 19898638 2009 A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.

PMID 19273793 2009 The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients.

PMID 19006237 2009 Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.

rs28937873 in NR2E3 gene and RETINITIS PIGMENTOSA 37 (disorder) PMID 17438525 2007 The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome.

PMID 19898638 2009 A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.

PMID 18294254 2008 Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.

PMID 11773633 2002 The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration.

PMID 24069298 2013 The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation.

PMID 19006237 2009 Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.

PMID 15689355 2005 The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes.

PMID 10655056 2000 Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

PMID 11071390 2000 The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

rs28937873 in NR2E3 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.