Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family

scientific article published on March 2009

Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/HUMU.20858
P932PMC publication ID3658139
P698PubMed publication ID19006237
P5875ResearchGate publication ID23470641

P50authorJoanna E MerriamQ114447129
Raphael RoduitQ43089863
P2093author name stringDaniel 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
P2860cites workPhenotypic variation in enhanced S-cone syndromeQ46626727
Structural and biochemical mechanisms for the specificity of hormone binding and coactivator assembly by mineralocorticoid receptorQ46629688
The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosaQ46914835
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 receptorQ22009463
Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamineQ22254109
Ligand-independent repression by the thyroid hormone receptor mediated by a nuclear receptor co-repressorQ24311650
Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brainQ24324461
The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degenerationQ24531333
Histone deacetylase-associating Atrophin proteins are nuclear receptor corepressorsQ24541357
An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndromeQ24670387
SWISS-MODEL: An automated protein homology-modeling serverQ24672647
Multiple sequence alignment with the Clustal series of programsQ24672842
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosaQ24676600
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 functionQ28115491
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone SyndromeQ28285701
Nuclear receptor TLX prevents retinal dystrophy and recruits the corepressor atrophin1Q28587617
The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genesQ28593002
Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptorsQ33203655
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 miceQ34085942
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degenerationQ34229025
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 heterozygosityQ34459668
Morphological, physiological, and biochemical changes in rhodopsin knockout miceQ34853562
In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal developmentQ35070506
Ligand control of coregulator recruitment to nuclear receptorsQ36041022
A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouseQ36981827
Identification of potent agonists of photoreceptor-specific nuclear receptor (NR2E3) and preparation of a radioligandQ40249519
Chromatin immunoprecipitation identifies photoreceptor transcription factor targets in mouse models of retinal degeneration: new findings and challengesQ40342981
P433issue3
P304page(s)342-351
P577publication date2009-03-01
P1433published inHuman MutationQ5937269
P1476titleMutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family
P478volume30

Reverse relations

cites work (P2860)
Q37412933A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.
Q53277115A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome.
Q37327614A signature motif mediating selective interactions of BCL11A with the NR2E/F subfamily of orphan nuclear receptors.
Q36441400Absence of NR2E1 mutations in patients with aniridia.
Q91981603Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant Retinitis Pigmentosa
Q64937510Correction of NR2E3 Associated Enhanced S-cone Syndrome Patient-specific iPSCs using CRISPR-Cas9.
Q34656069Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing
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Q37238631Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain
Q34679743Disruption of the human cone photoreceptor mosaic from a defect in NR2E3 transcription factor function in young adults
Q35933888Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases
Q35288269Excess cones in the retinal degeneration rd7 mouse, caused by the loss of function of orphan nuclear receptor Nr2e3, originate from early-born photoreceptor precursors
Q54963521Expression Profiling Analysis Reveals Key MicroRNA-mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa.
Q53155688Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.
Q92276489Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa
Q42292356Heterodimers of photoreceptor-specific nuclear receptor (PNR/NR2E3) and peroxisome proliferator-activated receptor-γ (PPARγ) are disrupted by retinal disease-associated mutations
Q34457949In pursuit of synthetic modulators for the orphan retina-specific nuclear receptor NR2E3
Q36989961Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases
Q37539468Modifier genes as therapeutics: the nuclear hormone receptor Rev Erb alpha (Nr1d1) rescues Nr2e3 associated retinal disease
Q36098417Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.
Q33510152Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.
Q37589555NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).
Q57462843Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy
Q33847588Nuclear receptor Rev-erb alpha (Nr1d1) functions in concert with Nr2e3 to regulate transcriptional networks in the retina
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Q33462272Structure of cone photoreceptors
Q28533473Systematic analyses of the cytotoxic effects of compound 11a, a putative synthetic agonist of photoreceptor-specific nuclear receptor (PNR), in cancer cell lines
Q50436594The nuclear hormone receptor gene Nr2c1 (Tr2) is a critical regulator of early retina cell patterning.
Q38859405Top2b is involved in the formation of outer segment and synapse during late-stage photoreceptor differentiation by controlling key genes of photoreceptor transcriptional regulatory network
Q24336944Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations

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