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

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

Item
http://www.wikidata.org/entity/Q34459668
The Crystal Structure of the Orphan Nuclear Receptor NR2E3/PNR Ligand Binding Domain Reveals a Dimeric Auto-Repressed ConformationMutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family.Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.Disruption of the human cone photoreceptor mosaic from a defect in NR2E3 transcription factor function in young adults.Overexpression of retinal degeneration slow (RDS) protein adversely affects rods in the rd7 model of enhanced S-cone syndromeAbsence of NR2E1 mutations in patients with aniridia.Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same familyDifferential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain.Nr2e3-directed transcriptional regulation of genes involved in photoreceptor development and cell-type specific phototransductionCellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 geneA comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.Identifying mutations in Tunisian families with retinal dystrophyWhy the macula?Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function.
P2860

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

Item
http://www.wikidata.org/entity/Q34459668
description
2005 nî lūn-bûn
@nan
2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Novel NR2E3 mutations (R104Q, ...... trate compound heterozygosity.
@ast
Novel NR2E3 mutations (R104Q, ...... trate compound heterozygosity.
@en
Novel NR2E3 mutations (R104Q, ...... trate compound heterozygosity.
@nl
type
label
Novel NR2E3 mutations (R104Q, ...... trate compound heterozygosity.
@ast
Novel NR2E3 mutations (R104Q, ...... trate compound heterozygosity.
@en
Novel NR2E3 mutations (R104Q, ...... trate compound heterozygosity.
@nl
prefLabel
Novel NR2E3 mutations (R104Q, ...... trate compound heterozygosity.
@ast
Novel NR2E3 mutations (R104Q, ...... trate compound heterozygosity.
@en
Novel NR2E3 mutations (R104Q, ...... trate compound heterozygosity.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Novel NR2E3 mutations (R104Q, ...... trate compound heterozygosity.
@en
P2093
P304
P31
P356
10.1016/J.OPHTHA.2005.07.002
P433
P478
P577
P698