Condition: Enhanced S-Cone Syndrome


rs104894492 in NR2E3 gene and Enhanced S-Cone Syndrome PMID 18294254 2008 Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.

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

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

PMID 16225923 2005 Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.

PMID 15459973 2004 Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.

PMID 12963616 2003 Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.

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

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

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

PMID 21364904 2011 Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.

PMID 27032803 2016 Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.

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 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.