Pages that link to "Q37589555"

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

Displaying 34 items.

• Minireview: the role of nuclear receptors in photoreceptor differentiation and disease (Q27014125) (← links)
• Role of Nuclear Receptors in Central Nervous System Development and Associated Diseases (Q27025212) (← links)
• The Crystal Structure of the Orphan Nuclear Receptor NR2E3/PNR Ligand Binding Domain Reveals a Dimeric Auto-Repressed Conformation (Q27680068) (← links)
• Reconstruction of nuclear receptor network reveals that NR2E3 is a novel upstream regulator of ESR1 in breast cancer (Q28114915) (← links)
• Evolution of the eye transcriptome under constant darkness in Sinocyclocheilus cavefish (Q30393644) (← links)
• Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX. (Q33510152) (← links)
• The association between nuclear receptors and ocular diseases (Q33689141) (← links)
• CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING. (Q33782257) (← links)
• Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome. (Q34604773) (← links)
• Excess cones in the retinal degeneration rd7 mouse, caused by the loss of function of orphan nuclear receptor Nr2e3, originate from early-born photoreceptor precursors (Q35288269) (← links)
• CRB1 mutations in inherited retinal dystrophies (Q35800472) (← links)
• Deregulation of NR2E3, an orphan nuclear receptor, by benzo(a)pyrene-induced oxidative stress is associated with histone modification status change of the estrogen receptor gene promoter (Q35914666) (← links)
• Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases (Q35933888) (← links)
• Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa (Q35956963) (← links)
• Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases (Q35959606) (← links)
• Absence of NR2E1 mutations in patients with aniridia. (Q36441400) (← links)
• Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa (Q36901097) (← links)
• Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain (Q37238631) (← links)
• Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa (Q37335630) (← links)
• Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome. (Q37384216) (← links)
• Modifier genes as therapeutics: the nuclear hormone receptor Rev Erb alpha (Nr1d1) rescues Nr2e3 associated retinal disease (Q37539468) (← links)
• Multimodal Regulation Orchestrates Normal and Complex Disease States in the Retina (Q38848956) (← links)
• Genetic modifiers as relevant biological variables of eye disorders (Q39290939) (← links)
• Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. (Q47828843) (← links)
• A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome. (Q53277115) (← links)
• Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function. (Q54304428) (← links)
• A 5-Year-Old Case of Choroidal Neovascularization in Enhanced S-Cone Syndrome Treated with Ranibizumab (Q61455462) (← links)
• Enhanced S-cone syndrome: Clinical spectrum in Indian population (Q64092998) (← links)
• Correction of NR2E3 Associated Enhanced S-cone Syndrome Patient-specific iPSCs using CRISPR-Cas9. (Q64937510) (← links)
• [Pharmacological concepts to treat hereditary retinal degenerations] (Q83476891) (← links)
• Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome (Q86694607) (← links)
• An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency (Q89280626) (← links)
• Nr2e3 is a genetic modifier that rescues retinal degeneration and promotes homeostasis in multiple models of retinitis pigmentosa (Q89983887) (← links)
• Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant Retinitis Pigmentosa (Q91981603) (← links)