Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family
about
Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterationsSystematic analyses of the cytotoxic effects of compound 11a, a putative synthetic agonist of photoreceptor-specific nuclear receptor (PNR), in cancer cell linesStructure of cone photoreceptors.Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.Nuclear receptor Rev-erb alpha (Nr1d1) functions in concert with Nr2e3 to regulate transcriptional networks in the retina.In pursuit of synthetic modulators for the orphan retina-specific nuclear receptor NR2E3Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencingDisruption of the human cone photoreceptor mosaic from a defect in NR2E3 transcription factor function in young adults.Structural basis for corepressor assembly by the orphan nuclear receptor TLX.Excess cones in the retinal degeneration rd7 mouse, caused by the loss of function of orphan nuclear receptor Nr2e3, originate from early-born photoreceptor precursorsDominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 CasesMolecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.Absence of NR2E1 mutations in patients with aniridia.Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesPathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain.A signature motif mediating selective interactions of BCL11A with the NR2E/F subfamily of orphan nuclear receptors.A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.Modifier genes as therapeutics: the nuclear hormone receptor Rev Erb alpha (Nr1d1) rescues Nr2e3 associated retinal diseaseTop2b is involved in the formation of outer segment and synapse during late-stage photoreceptor differentiation by controlling key genes of photoreceptor transcriptional regulatory network.Heterodimers of photoreceptor-specific nuclear receptor (PNR/NR2E3) and peroxisome proliferator-activated receptor-γ (PPARγ) are disrupted by retinal disease-associated mutations.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome.Expression Profiling Analysis Reveals Key MicroRNA-mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa.
P2860
Q24336944-3E6D6831-A959-4FDD-8FC9-3F9053806C64Q28533473-1179746C-A31D-4B0F-BA48-800797EBAE32Q33462272-4FE2B2B2-44AD-41C1-87B2-18C86C697FA8Q33510152-C1D1CCD5-B248-4A47-8C28-9B752C2CD3ACQ33847588-2309E56E-413A-43DF-86AF-AE2E9B39C9BEQ34457949-9FF659F7-1E23-49AF-B150-F612FD849F40Q34604773-2635EE9A-C12E-4792-97BC-D94471B20D74Q34656069-30D0D33A-9637-4EB7-951D-4381C0AF0F08Q34679743-18CB7605-AF8A-4B58-B773-ED7B9BFBDE67Q35104166-FBC41937-C906-49F5-87FA-914C3C863325Q35288269-A401E3F8-9511-4F06-8133-3C1E801212DDQ35933888-2E4FC314-C186-47B3-B863-A8034618CB12Q36098417-7F7208C4-F56D-456D-8399-BFE10E9CC578Q36441400-0748D503-0B2D-49C7-8FC7-A03EA7949062Q36989961-9B6C5876-675A-42D5-B4A9-7D3474215E3DQ37101463-587EA523-3326-414A-B785-A894B94918C7Q37238631-9CF3109C-6604-4EB9-A1CF-6789850F5386Q37327614-0593FDBF-24BC-4F27-9261-8E5C4D89CD91Q37412933-F4CBA36B-0628-49CB-8656-F42CF03F48ABQ37539468-CD272DC5-92EC-4505-B080-91DA1B097B3CQ38859405-12E48674-C447-4829-A6FE-36D63B8492BFQ42292356-DA347832-ECFD-4B25-AA3B-BCAAF48BD8B8Q53155688-E98AF356-0476-4EDC-AED9-07BB2AC6B46AQ53277115-0BBFC43A-679B-43BC-863C-212D4372D62DQ54963521-8936AC02-B264-4442-BDBD-3B9C426E0DA6
P2860
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
2009年论文
@zh
2009年论文
@zh-cn
name
Mutations in NR2E3 can cause d ...... generations in the same family
@en
type
label
Mutations in NR2E3 can cause d ...... generations in the same family
@en
prefLabel
Mutations in NR2E3 can cause d ...... generations in the same family
@en
P2093
P2860
P356
P1433
P1476
Mutations in NR2E3 can cause d ...... generations in the same family
@en
P2093
Chih-Cheng Tsai
Daniel F Schorderet
Francis L Munier
Jana Zernant
Joanna E Merriam
Leila Tiab
Masanori Hayashi
Nicolas Mermod
Pascal Escher
Peter Gouras
P2860
P304
P356
10.1002/HUMU.20858
P577
2009-03-01T00:00:00Z