Published in Hum Mol Genet on June 09, 2004
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet (2006) 3.90
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Targeting of GFP to newborn rods by Nrl promoter and temporal expression profiling of flow-sorted photoreceptors. Proc Natl Acad Sci U S A (2006) 3.27
Design principles of insect and vertebrate visual systems. Neuron (2010) 2.94
Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL. Proc Natl Acad Sci U S A (2007) 1.74
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res (2012) 1.66
Regulation of photoreceptor gene expression by Crx-associated transcription factor network. Brain Res (2007) 1.63
Unexpected novel relational links uncovered by extensive developmental profiling of nuclear receptor expression. PLoS Genet (2007) 1.52
In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development. Hum Mol Genet (2006) 1.49
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. Am J Hum Genet (2007) 1.46
Pias3-dependent SUMOylation directs rod photoreceptor development. Neuron (2009) 1.45
Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. Proc Natl Acad Sci U S A (2004) 1.42
Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD). Prog Retin Eye Res (2010) 1.39
Rod differentiation factor NRL activates the expression of nuclear receptor NR2E3 to suppress the development of cone photoreceptors. Brain Res (2008) 1.38
Crx activates opsin transcription by recruiting HAT-containing co-activators and promoting histone acetylation. Hum Mol Genet (2007) 1.36
Transcriptional regulation of rod photoreceptor homeostasis revealed by in vivo NRL targetome analysis. PLoS Genet (2012) 1.19
The orphan nuclear hormone receptor ERRbeta controls rod photoreceptor survival. Proc Natl Acad Sci U S A (2010) 1.15
Naturally occurring animal models with outer retina phenotypes. Vision Res (2009) 1.14
Genetic dissection reveals two separate pathways for rod and cone regeneration in the teleost retina. Dev Neurobiol (2008) 1.14
Identification of regulatory targets of tissue-specific transcription factors: application to retina-specific gene regulation. Nucleic Acids Res (2005) 1.07
Rbpj cell autonomous regulation of retinal ganglion cell and cone photoreceptor fates in the mouse retina. J Neurosci (2009) 1.04
OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness. J Clin Invest (2014) 1.04
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. Hum Mutat (2009) 1.03
Retinoic acid regulates the expression of photoreceptor transcription factor NRL. J Biol Chem (2006) 1.02
Nr2e3-directed transcriptional regulation of genes involved in photoreceptor development and cell-type specific phototransduction. Exp Eye Res (2009) 1.01
The retinal mosaics of opsin expression in invertebrates and vertebrates. Dev Neurobiol (2011) 1.01
Have we achieved a unified model of photoreceptor cell fate specification in vertebrates? Brain Res (2007) 1.00
Mapping of genetic modifiers of Nr2e3 rd7/rd7 that suppress retinal degeneration and restore blue cone cells to normal quantity. Mamm Genome (2008) 0.94
Nuclear receptor Rev-erb alpha (Nr1d1) functions in concert with Nr2e3 to regulate transcriptional networks in the retina. PLoS One (2011) 0.93
Photoreceptor cell death, proliferation and formation of hybrid rod/S-cone photoreceptors in the degenerating STK38L mutant retina. PLoS One (2011) 0.93
Regulation of photoreceptor gene expression by the retinal homeobox (Rx) gene product. Dev Biol (2010) 0.92
A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3. Mol Vis (2009) 0.92
Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX. PLoS One (2009) 0.91
Combinatorial regulation of photoreceptor differentiation factor, neural retina leucine zipper gene NRL, revealed by in vivo promoter analysis. J Biol Chem (2011) 0.90
Vision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease. Prog Retin Eye Res (2015) 0.90
The transcription factor neural retina leucine zipper (NRL) controls photoreceptor-specific expression of myocyte enhancer factor Mef2c from an alternative promoter. J Biol Chem (2011) 0.90
Roles of cell-intrinsic and microenvironmental factors in photoreceptor cell differentiation. Dev Biol (2005) 0.90
Minireview: the role of nuclear receptors in photoreceptor differentiation and disease. Mol Endocrinol (2012) 0.90
Evolution of the eye transcriptome under constant darkness in Sinocyclocheilus cavefish. Mol Biol Evol (2013) 0.90
Sumoylation of bZIP transcription factor NRL modulates target gene expression during photoreceptor differentiation. J Biol Chem (2010) 0.89
The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation. PLoS One (2013) 0.88
A novel mutation in Prph2, a gene regulated by Nr2e3, causes retinal degeneration and outer-segment defects similar to Nr2e3 ( rd7/rd7 ) retinas. Mamm Genome (2008) 0.87
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. Hum Mol Genet (2011) 0.87
Retinal Thickness Normative Data in Wild-Type Mice Using Customized Miniature SD-OCT. PLoS One (2013) 0.87
Photoreceptor cell fate specification in vertebrates. Development (2015) 0.85
Nitric Oxide as a Switching Mechanism between Axon Degeneration and Regrowth during Developmental Remodeling. Cell (2016) 0.85
Insulinoma-associated 1a (Insm1a) is required for photoreceptor differentiation in the zebrafish retina. Dev Biol (2013) 0.84
FIZ1 is part of the regulatory protein complex on active photoreceptor-specific gene promoters in vivo. BMC Mol Biol (2008) 0.84
IL-13Rα2 mediates PNR-induced migration and metastasis in ERα-negative breast cancer. Oncogene (2014) 0.83
Active opsin loci adopt intrachromosomal loops that depend on the photoreceptor transcription factor network. Proc Natl Acad Sci U S A (2011) 0.83
Specificity of DNA-binding by the FAX-1 and NHR-67 nuclear receptors of Caenorhabditis elegans is partially mediated via a subclass-specific P-box residue. BMC Mol Biol (2008) 0.82
CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene. Nucleic Acids Res (2008) 0.82
FLT1 genetic variation predisposes to neovascular AMD in ethnically diverse populations and alters systemic FLT1 expression. Invest Ophthalmol Vis Sci (2014) 0.82
In pursuit of synthetic modulators for the orphan retina-specific nuclear receptor NR2E3. J Ocul Pharmacol Ther (2012) 0.82
Transcription factors involved in retinogenesis are co-opted by the circadian clock following photoreceptor differentiation. Development (2014) 0.81
The unfulfilled gene is required for the development of mushroom body neuropil in Drosophila. Neural Dev (2010) 0.81
Mechanisms of blindness: animal models provide insight into distinct CRX-associated retinopathies. Dev Dyn (2014) 0.81
Systematic analyses of the cytotoxic effects of compound 11a, a putative synthetic agonist of photoreceptor-specific nuclear receptor (PNR), in cancer cell lines. PLoS One (2013) 0.81
A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome. Graefes Arch Clin Exp Ophthalmol (2010) 0.80
Positive selection rather than relaxation of functional constraint drives the evolution of vision during chicken domestication. Cell Res (2016) 0.80
Replication-dependent histone genes are actively transcribed in differentiating and aging retinal neurons. Cell Cycle (2014) 0.80
The orphan nuclear receptors at their 25-year reunion. J Mol Endocrinol (2013) 0.80
The Hippo pathway controls a switch between retinal progenitor cell proliferation and photoreceptor cell differentiation in zebrafish. PLoS One (2014) 0.80
Feedback induction of a photoreceptor-specific isoform of retinoid-related orphan nuclear receptor β by the rod transcription factor NRL. J Biol Chem (2014) 0.80
Rax Homeoprotein Regulates Photoreceptor Cell Maturation and Survival in Association with Crx in the Postnatal Mouse Retina. Mol Cell Biol (2015) 0.80
Modifier genes as therapeutics: the nuclear hormone receptor Rev Erb alpha (Nr1d1) rescues Nr2e3 associated retinal disease. PLoS One (2014) 0.79
A 350 bp region of the proximal promoter of Rds drives cell-type specific gene expression. Exp Eye Res (2010) 0.79
FIZ1 is expressed during photoreceptor maturation, and synergizes with NRL and CRX at rod-specific promoters in vitro. Exp Eye Res (2006) 0.79
Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain. Hum Mutat (2015) 0.79
The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome. Mol Vis (2007) 0.78
Cooperative activation of Xenopus rhodopsin transcription by paired-like transcription factors. BMC Mol Biol (2014) 0.78
unfulfilled interacting genes display branch-specific roles in the development of mushroom body axons in Drosophila melanogaster. G3 (Bethesda) (2014) 0.77
Expression of rod-derived cone viability factor: dual role of CRX in regulating promoter activity and cell-type specificity. PLoS One (2010) 0.77
PRE-1, a cis element sufficient to enhance cone- and rod- specific expression in differentiating zebrafish photoreceptors. BMC Dev Biol (2011) 0.77
Lipid-sensors, enigmatic-orphan and orphan nuclear receptors as therapeutic targets in breast-cancer. Oncotarget (2016) 0.77
Role of Nuclear Receptors in Central Nervous System Development and Associated Diseases. J Exp Neurosci (2016) 0.76
Transcriptional activity of neural retina leucine zipper (Nrl) is regulated by c-Jun N-terminal kinase and Tip60 during retina development. Mol Cell Biol (2012) 0.76
Using a seed-network to query multiple large-scale gene expression datasets from the developing retina in order to identify and prioritize experimental targets. Bioinform Biol Insights (2008) 0.76
Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype. Exp Ther Med (2016) 0.75
Deregulation of NR2E3, an orphan nuclear receptor, by benzo(a)pyrene-induced oxidative stress is associated with histone modification status change of the estrogen receptor gene promoter. Toxicol Lett (2015) 0.75
Heterodimers of photoreceptor-specific nuclear receptor (PNR/NR2E3) and peroxisome proliferator-activated receptor-γ (PPARγ) are disrupted by retinal disease-associated mutations. Cell Death Dis (2017) 0.75
Neurodevelopment: Regeneration switch is a gas. Nature (2016) 0.75
Genetic risk variants for metabolic traits in Arab populations. Sci Rep (2017) 0.75
A regulatory domain is required for Foxn4 activity during retinogenesis. J Mol Neurosci (2011) 0.75
Potential of Small Molecule-Mediated Reprogramming of Rod Photoreceptors to Treat Retinitis Pigmentosa. Invest Ophthalmol Vis Sci (2016) 0.75
In vitro transdifferentiation of human peripheral blood mononuclear cells to photoreceptor-like cells. Biol Open (2016) 0.75
Samd7 is a cell type-specific PRC1 component essential for establishing retinal rod photoreceptor identity. Proc Natl Acad Sci U S A (2017) 0.75
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet (2006) 5.36
CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet (2006) 4.51
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A (2010) 4.30
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet (2006) 3.90
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet (2005) 3.55
A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Proc Natl Acad Sci U S A (2007) 3.50
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
E2-2 protein and Fuchs's corneal dystrophy. N Engl J Med (2010) 3.31
Targeting of GFP to newborn rods by Nrl promoter and temporal expression profiling of flow-sorted photoreceptors. Proc Natl Acad Sci U S A (2006) 3.27
High-resolution imaging with adaptive optics in patients with inherited retinal degeneration. Invest Ophthalmol Vis Sci (2007) 3.21
Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet (2005) 3.19
Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease. Am J Hum Genet (2004) 2.97
Identification and characterization of rod-derived cone viability factor. Nat Genet (2004) 2.63
Cone-like morphological, molecular, and electrophysiological features of the photoreceptors of the Nrl knockout mouse. Invest Ophthalmol Vis Sci (2005) 2.51
CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease. Dev Cell (2008) 2.35
Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet (2005) 2.34
Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration. Hum Mol Genet (2005) 2.32
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet (2002) 2.29
Breast cancer in African-American women: differences in tumor biology from European-American women. Cancer Res (2006) 2.18
Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa. Proc Natl Acad Sci U S A (2012) 2.12
In vivo margin assessment during partial mastectomy breast surgery using raman spectroscopy. Cancer Res (2006) 2.12
Expression profiling of the developing and mature Nrl-/- mouse retina: identification of retinal disease candidates and transcriptional regulatory targets of Nrl. Hum Mol Genet (2004) 2.07
Photoreceptors of Nrl -/- mice coexpress functional S- and M-cone opsins having distinct inactivation mechanisms. J Gen Physiol (2005) 1.99
Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration. Hum Mol Genet (2003) 1.79
Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons. Proc Natl Acad Sci U S A (2007) 1.74
Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL. Proc Natl Acad Sci U S A (2007) 1.74
Age-related macular degeneration: genetics and biology coming together. Annu Rev Genomics Hum Genet (2014) 1.69
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis. Hum Mutat (2007) 1.67
RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins. J Biol Chem (2005) 1.67
GRK1-dependent phosphorylation of S and M opsins and their binding to cone arrestin during cone phototransduction in the mouse retina. J Neurosci (2003) 1.66
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. Am J Hum Genet (2006) 1.63
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. Am J Hum Genet (2009) 1.52
In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development. Hum Mol Genet (2006) 1.49
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Invest Ophthalmol Vis Sci (2012) 1.47
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. Hum Mutat (2004) 1.45
Inherited retinal degenerations: therapeutic prospects. Biol Cell (2004) 1.44
A comprehensive analysis of the expression of crystallins in mouse retina. Mol Vis (2003) 1.43
Distribution and density of medium- and short-wavelength selective cones in the domestic pig retina. Exp Eye Res (2002) 1.43
Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. Proc Natl Acad Sci U S A (2004) 1.42
Biomarkers of cardiovascular disease as risk factors for age-related macular degeneration. Ophthalmology (2005) 1.41
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nat Genet (2013) 1.39
Rod differentiation factor NRL activates the expression of nuclear receptor NR2E3 to suppress the development of cone photoreceptors. Brain Res (2008) 1.38
Microarray analysis of gene expression in the aging human retina. Invest Ophthalmol Vis Sci (2002) 1.38
Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations. Invest Ophthalmol Vis Sci (2007) 1.37
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. Hum Mol Genet (2004) 1.36
Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent. Nat Genet (2010) 1.35
Subunit dissociation and diffusion determine the subcellular localization of rod and cone transducins. J Neurosci (2007) 1.35
Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function. J Biol Chem (2002) 1.34
Second sight? Ecker JL, Dumitrescu ON, Wong KY, Alam NM, Chen SK, LeGates T, Renna JM, Prusky GT, Berson DM, Hattar S (2010) Melanopsin-expressing retinal ganglion-cell photoreceptors: cellular diversity and role in pattern vision. Neuron 67:49-60. Graefes Arch Clin Exp Ophthalmol (2011) 1.34
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. Am J Hum Genet (2007) 1.33
Recruitment of the rod pathway by cones in the absence of rods. J Neurosci (2004) 1.31
Nrl-knockout mice deficient in Rpe65 fail to synthesize 11-cis retinal and cone outer segments. Invest Ophthalmol Vis Sci (2008) 1.31
Next-generation sequencing facilitates quantitative analysis of wild-type and Nrl(-/-) retinal transcriptomes. Mol Vis (2011) 1.29
Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins. Cilia (2012) 1.27
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. Hum Mol Genet (2011) 1.27
Retinoid-related orphan nuclear receptor RORbeta is an early-acting factor in rod photoreceptor development. Proc Natl Acad Sci U S A (2009) 1.27
Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2). J Gene Med (2002) 1.26
Network constrained clustering for gene microarray data. Bioinformatics (2005) 1.22
Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe). Invest Ophthalmol Vis Sci (2011) 1.22
The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development. Hum Mol Genet (2010) 1.20
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J Clin Invest (2010) 1.20
Association of apolipoprotein E alleles with susceptibility to age-related macular degeneration in a large cohort from a single center. Invest Ophthalmol Vis Sci (2004) 1.19
Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people. Am J Epidemiol (2011) 1.19
Transcriptional regulation of rod photoreceptor homeostasis revealed by in vivo NRL targetome analysis. PLoS Genet (2012) 1.19
Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15. PLoS One (2012) 1.19
Activation of signaling pathways and stress-response genes in an experimental model of retinal detachment. Invest Ophthalmol Vis Sci (2006) 1.18
Toll-like receptor polymorphisms and age-related macular degeneration. Invest Ophthalmol Vis Sci (2008) 1.18
Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration. Hum Mol Genet (2010) 1.18
Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies. Hum Mutat (2011) 1.17
Madeline 2.0 PDE: a new program for local and web-based pedigree drawing. Bioinformatics (2007) 1.17
Expression of photoreceptor-specific nuclear receptor NR2E3 in rod photoreceptors of fetal human retina. Invest Ophthalmol Vis Sci (2004) 1.17
Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3. Mamm Genome (2009) 1.16
Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity. J Biol Chem (2004) 1.15
Evaluation and optimization of procedures for target labeling and hybridization of cDNA microarrays. Mol Vis (2002) 1.15
Complement factor D in age-related macular degeneration. Invest Ophthalmol Vis Sci (2011) 1.14
Challenges in array comparative genomic hybridization for the analysis of cancer samples. Genet Med (2007) 1.14
MicroRNA profile of the developing mouse retina. Invest Ophthalmol Vis Sci (2009) 1.14
Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. Int J Epidemiol (2012) 1.12
Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas. Mol Vis (2010) 1.11
Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development. Hum Mol Genet (2010) 1.11
Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice. Proc Natl Acad Sci U S A (2010) 1.10
QRX, a novel homeobox gene, modulates photoreceptor gene expression. Hum Mol Genet (2004) 1.10
CSPP is a ciliary protein interacting with Nephrocystin 8 and required for cilia formation. Mol Biol Cell (2010) 1.10