A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.
about
The genetics of normal and defective color visionThe Crystal Structure of the Orphan Nuclear Receptor NR2E3/PNR Ligand Binding Domain Reveals a Dimeric Auto-Repressed ConformationA novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retinaMolecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.Excess cones in the retinal degeneration rd7 mouse, caused by the loss of function of orphan nuclear receptor Nr2e3, originate from early-born photoreceptor precursorsCo-activator candidate interactions for orphan nuclear receptor NR2E1.Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain.Genetic disorders of nuclear receptors.Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.Heterodimers of photoreceptor-specific nuclear receptor (PNR/NR2E3) and peroxisome proliferator-activated receptor-γ (PPARγ) are disrupted by retinal disease-associated mutations.Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations.
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A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 24 October 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A comprehensive analysis of se ...... ecific nuclear receptor NR2E3.
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A comprehensive analysis of se ...... ecific nuclear receptor NR2E3.
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type
label
A comprehensive analysis of se ...... ecific nuclear receptor NR2E3.
@en
A comprehensive analysis of se ...... ecific nuclear receptor NR2E3.
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prefLabel
A comprehensive analysis of se ...... ecific nuclear receptor NR2E3.
@en
A comprehensive analysis of se ...... ecific nuclear receptor NR2E3.
@nl
P2860
P1433
P1476
A comprehensive analysis of se ...... ecific nuclear receptor NR2E3.
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P2093
Anand Swaroop
Atsuhiro Kanda
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P304
P577
2009-10-24T00:00:00Z