Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
about
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
Q27680068-F2112BFD-8600-4363-9325-769106845C69Q33510152-4156A9E2-75DF-4098-8C9C-74C0F29C6D7AQ33845221-8C75F8EE-3F0C-48F1-8E51-1516166D2D38Q34604773-4A156D8B-D0C2-4F39-B866-FE0A3EF57804Q34679743-2C10268F-8164-4A3E-B4F3-0DB32AB9B9DCQ34708558-A59E97F3-15B5-470F-9446-B5156560FC94Q36441400-6C5A81D1-4531-4ECF-90B9-C3E78682993DQ36856211-F6ABFC23-6BE0-4C29-B8E2-0FF16077D5D5Q37238631-C2C0523A-78CE-4198-A97F-586E6A84696DQ37288143-CF408AE6-D202-41D2-9D64-1F36521417A0Q37343608-8B37C445-7926-4F68-A11C-9C35DD7F31A2Q37412933-AE860AC5-06FE-4425-903D-FAD3EA121E61Q42364951-8D6B8252-5A79-4D88-8828-98071387629DQ45940189-4C3881FC-92A4-4C4F-A42B-042600E3DCC3Q54304428-C4DB7F52-BF21-4966-A598-9751CA98BE0C
P2860
Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
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
P2093
P1433
P1476
Novel NR2E3 mutations (R104Q, ...... trate compound heterozygosity.
@en
P2093
Akiko Kubo
Kenji Kitahara
Satoshi Goto-Omoto
Takaaki Hayashi
Tamaki Gekka
Tomokazu Takeuchi
P356
10.1016/J.OPHTHA.2005.07.002
P577
2005-10-12T00:00:00Z