Condition: RETINITIS PIGMENTOSA 37 (disorder)
rs121912631 in
NR2E3 gene and
RETINITIS PIGMENTOSA 37 (disorder)
PMID 17564971 2007 Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.
PMID 19006237 2009 Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.
PMID 21364904 2011 Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.
PMID 19273793 2009 The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients.
PMID 12963616 2003 Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.
PMID 19898638 2009 A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.
PMID 27032803 2016 Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.
PMID 10655056 2000 Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
PMID 15459973 2004 Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
PMID 23591405 2014 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
PMID 18294254 2008 Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.
PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
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 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 15689355 2005 The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes.
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.