scholarly article | Q13442814 |
P50 | author | Joanna E Merriam | Q114447129 |
Raphael Roduit | Q43089863 | ||
P2093 | author name string | Daniel F Schorderet | |
Francis L Munier | |||
Leila Tiab | |||
Pascal Escher | |||
Sylvain Bolay | |||
Shiming Chen | |||
Rando Allikmets | |||
Jana Zernant | |||
Nicolas Mermod | |||
Chih-Cheng Tsai | |||
Masanori Hayashi | |||
Peter Gouras | |||
Tania Delarive | |||
P2860 | cites work | Phenotypic variation in enhanced S-cone syndrome | Q46626727 |
Structural and biochemical mechanisms for the specificity of hormone binding and coactivator assembly by mineralocorticoid receptor | Q46629688 | ||
The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa | Q46914835 | ||
In vivo dual cross-linking for identification of indirect DNA-associated proteins by chromatin immunoprecipitation. | Q49485469 | ||
Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. | Q50878943 | ||
SWS (blue) cone hypersensitivity in a newly identified retinal degeneration. | Q50880733 | ||
The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation. | Q51995718 | ||
Identification of a photoreceptor cell-specific nuclear receptor | Q22009463 | ||
Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine | Q22254109 | ||
Ligand-independent repression by the thyroid hormone receptor mediated by a nuclear receptor co-repressor | Q24311650 | ||
Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain | Q24324461 | ||
The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration | Q24531333 | ||
Histone deacetylase-associating Atrophin proteins are nuclear receptor corepressors | Q24541357 | ||
An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome | Q24670387 | ||
SWISS-MODEL: An automated protein homology-modeling server | Q24672647 | ||
Multiple sequence alignment with the Clustal series of programs | Q24672842 | ||
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa | Q24676600 | ||
A hybrid photoreceptor expressing both rod and cone genes in a mouse model of enhanced S-cone syndrome. | Q24813359 | ||
A cell cycle-dependent co-repressor mediates photoreceptor cell-specific nuclear receptor function | Q28115491 | ||
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome | Q28285701 | ||
Nuclear receptor TLX prevents retinal dystrophy and recruits the corepressor atrophin1 | Q28587617 | ||
The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes | Q28593002 | ||
Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors | Q33203655 | ||
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. | Q33888425 | ||
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition. | Q33924733 | ||
Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice | Q34085942 | ||
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration | Q34229025 | ||
The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes. | Q34382038 | ||
Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity | Q34459668 | ||
Morphological, physiological, and biochemical changes in rhodopsin knockout mice | Q34853562 | ||
In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development | Q35070506 | ||
Ligand control of coregulator recruitment to nuclear receptors | Q36041022 | ||
A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse | Q36981827 | ||
Identification of potent agonists of photoreceptor-specific nuclear receptor (NR2E3) and preparation of a radioligand | Q40249519 | ||
Chromatin immunoprecipitation identifies photoreceptor transcription factor targets in mouse models of retinal degeneration: new findings and challenges | Q40342981 | ||
P433 | issue | 3 | |
P304 | page(s) | 342-351 | |
P577 | publication date | 2009-03-01 | |
P1433 | published in | Human Mutation | Q5937269 |
P1476 | title | Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family | |
P478 | volume | 30 |
Q37412933 | A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3. |
Q53277115 | A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome. |
Q37327614 | A signature motif mediating selective interactions of BCL11A with the NR2E/F subfamily of orphan nuclear receptors. |
Q36441400 | Absence of NR2E1 mutations in patients with aniridia. |
Q91981603 | Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant Retinitis Pigmentosa |
Q64937510 | Correction of NR2E3 Associated Enhanced S-cone Syndrome Patient-specific iPSCs using CRISPR-Cas9. |
Q34656069 | Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing |
Q34604773 | Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome. |
Q37238631 | Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain |
Q34679743 | Disruption of the human cone photoreceptor mosaic from a defect in NR2E3 transcription factor function in young adults |
Q35933888 | Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases |
Q35288269 | 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 |
Q54963521 | Expression Profiling Analysis Reveals Key MicroRNA-mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa. |
Q53155688 | Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario. |
Q92276489 | Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa |
Q42292356 | Heterodimers of photoreceptor-specific nuclear receptor (PNR/NR2E3) and peroxisome proliferator-activated receptor-γ (PPARγ) are disrupted by retinal disease-associated mutations |
Q34457949 | In pursuit of synthetic modulators for the orphan retina-specific nuclear receptor NR2E3 |
Q36989961 | Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases |
Q37539468 | Modifier genes as therapeutics: the nuclear hormone receptor Rev Erb alpha (Nr1d1) rescues Nr2e3 associated retinal disease |
Q36098417 | Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration. |
Q33510152 | Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX. |
Q37589555 | NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). |
Q57462843 | Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy |
Q33847588 | Nuclear receptor Rev-erb alpha (Nr1d1) functions in concert with Nr2e3 to regulate transcriptional networks in the retina |
Q37101463 | Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases |
Q35104166 | Structural basis for corepressor assembly by the orphan nuclear receptor TLX. |
Q33462272 | Structure of cone photoreceptors |
Q28533473 | Systematic analyses of the cytotoxic effects of compound 11a, a putative synthetic agonist of photoreceptor-specific nuclear receptor (PNR), in cancer cell lines |
Q50436594 | The nuclear hormone receptor gene Nr2c1 (Tr2) is a critical regulator of early retina cell patterning. |
Q38859405 | Top2b is involved in the formation of outer segment and synapse during late-stage photoreceptor differentiation by controlling key genes of photoreceptor transcriptional regulatory network |
Q24336944 | Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations |
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