Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome - Wikidata - awgldk - TriplyDB

Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome

Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome

http://www.wikidata.org/entity/Q28285701

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Minireview: the role of nuclear receptors in photoreceptor differentiation and disease The Crystal Structure of the Orphan Nuclear Receptor NR2E3/PNR Ligand Binding Domain Reveals a Dimeric Auto-Repressed Conformation Biology and therapy of inherited retinal degenerative disease: insights from mouse models Retinoid-related orphan nuclear receptor RORbeta is an early-acting factor in rod photoreceptor development Panky, a novel photoreceptor-specific ankyrin repeat protein, is a transcriptional cofactor that suppresses CRX-regulated photoreceptor genes Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration.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.Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development 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 Vision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease Expanded clinical spectrum of enhanced S-cone syndrome Pgc-1α and Nr4a1 Are Target Genes of Circadian Melatonin and Dopamine Release in Murine Retina.Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa.Clinical disorders affecting mesopic vision.Retinal pathology of a patient with Goldmann-Favre syndrome Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family Regulation of photoreceptor gene expression by Crx-associated transcription factor network Genetics of hereditary vitreoretinal degenerations.Clinical features of the congenital vitreoretinopathies.Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain.Cellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 gene A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.Recent advances in association studies of osteoarthritis susceptibility genes.The retinal mosaics of opsin expression in invertebrates and vertebrates.Enhanced S-cone function with preserved rod function: a new clinical phenotype Mechanisms of Photoreceptor Patterning in Vertebrates and Invertebrates The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome.mRNA expression analysis of the SUMO pathway genes in the adult mouse retina.Rethinking Nuclear Receptors as Potential Therapeutic Targets for Retinal Diseases.OTX2 and CRX rescue overlapping and photoreceptor-specific functions in the Drosophila eye The enhanced S-cone syndrome in children.The enhanced S-cone syndrome in children.Common variants in DVWA on chromosome 3p24.3 are associated with susceptibility to knee osteoarthritis.Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome.Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.Generation of a rod-specific NRL reporter line in human pluripotent stem cells.Reduced L- and M- and increased S-cone functions in an infant with thyroid hormone resistance due to mutations in the THRβ2 gene.

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Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome

http://www.wikidata.org/entity/Q28285701

description

2004 nî lūn-bûn

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2004 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2004 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2004年の論文

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2004年论文

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name

Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome

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Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome

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Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome

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Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome

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Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome

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Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome

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Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome

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Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome

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Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome

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Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome

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Adam C Reddick

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Alan F Wright

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Alan Lennon

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Anand Swaroop

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Andreas Schuster

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Artur V Cideciyan

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Bernd Wissinger

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Bernhard Jurklies

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Edwin M Stone

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Julie S Ferguson

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10.1002/HUMU.9285

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