Published in Invest Ophthalmol Vis Sci on May 01, 2004
Molecular pathology of age-related macular degeneration. Prog Retin Eye Res (2008) 3.35
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
Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration. Annu Rev Genomics Hum Genet (2009) 2.40
Anti-amyloid therapy protects against retinal pigmented epithelium damage and vision loss in a model of age-related macular degeneration. Proc Natl Acad Sci U S A (2011) 1.56
Systems-level analysis of age-related macular degeneration reveals global biomarkers and phenotype-specific functional networks. Genome Med (2012) 1.46
Detection of CX3CR1 single nucleotide polymorphism and expression on archived eyes with age-related macular degeneration. Histol Histopathol (2005) 1.32
Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12. BMC Genet (2004) 1.27
Age-related macular degeneration: genetic and environmental factors of disease. Mol Interv (2010) 1.24
Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people. Am J Epidemiol (2011) 1.19
Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies. Hum Mutat (2011) 1.17
Genetics of age-related macular degeneration: current concepts, future directions. Semin Ophthalmol (2011) 1.16
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. PLoS One (2013) 1.16
Polymorphism p.402Y>H in the complement factor H protein is a risk factor for age related macular degeneration in an Italian population. Br J Ophthalmol (2006) 1.06
At the interface of sensory and motor dysfunctions and Alzheimer's disease. Alzheimers Dement (2014) 1.02
Progress in defining the molecular biology of age related macular degeneration. Hum Genet (2007) 1.01
Age-related macular degeneration-clinical review and genetics update. Clin Genet (2013) 1.00
Convergence of linkage, gene expression and association data demonstrates the influence of the RAR-related orphan receptor alpha (RORA) gene on neovascular AMD: a systems biology based approach. Vision Res (2009) 0.95
The putative role of lutein and zeaxanthin as protective agents against age-related macular degeneration: promise of molecular genetics for guiding mechanistic and translational research in the field. Am J Clin Nutr (2012) 0.95
An apolipoprotein E variant may protect against age-related macular degeneration through cytokine regulation. Environ Mol Mutagen (2006) 0.94
Variants in the APOE gene are associated with improved outcome after anti-VEGF treatment for neovascular AMD. Invest Ophthalmol Vis Sci (2011) 0.90
Restoration of mesenchymal retinal pigmented epithelial cells by TGFβ pathway inhibitors: implications for age-related macular degeneration. Genome Med (2015) 0.82
Apolipoprotein E gene and age-related macular degeneration in a Chinese population. Mol Vis (2011) 0.81
The proteomics of drusen. Cold Spring Harb Perspect Med (2014) 0.80
Genetic basis of inherited macular dystrophies and implications for stem cell therapy. Stem Cells (2009) 0.78
Genetic risk, ethnic variations and pharmacogenetic biomarkers in age-related macular degeneration and polypoidal choroidal vasculopathy. Expert Rev Ophthalmol (2013) 0.77
Apolipoprotein E epsilon4 offers protection against age-related macular degeneration. Med Hypotheses (2006) 0.77
Macular xanthophylls, lipoprotein-related genes, and age-related macular degeneration. Am J Clin Nutr (2014) 0.76
Single nucleotide polymorphisms of the tenomodulin gene (TNMD) in age-related macular degeneration. Mol Vis (2009) 0.76
TOMM40 rs2075650 polymorphism shows no association with neovascular age-related macular degeneration or polypoidal choroidal vasculopathy in a Chinese population. Mol Vis (2013) 0.76
ApoE4 induces synaptic and ERG impairments in the retina of young targeted replacement apoE4 mice. PLoS One (2013) 0.75
Oxidized Lipoprotein Uptake Through the CD36 Receptor Activates the NLRP3 Inflammasome in Human Retinal Pigment Epithelial Cells. Invest Ophthalmol Vis Sci (2016) 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
Methionine-deficient diet extends mouse lifespan, slows immune and lens aging, alters glucose, T4, IGF-I and insulin levels, and increases hepatocyte MIF levels and stress resistance. Aging Cell (2005) 4.02
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
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
Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors. Hum Mol Genet (2004) 2.14
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
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
Hormone-treated snell dwarf mice regain fertility but remain long lived and disease resistant. J Gerontol A Biol Sci Med Sci (2004) 2.03
Photoreceptors of Nrl -/- mice coexpress functional S- and M-cone opsins having distinct inactivation mechanisms. J Gen Physiol (2005) 1.99
Dishevelled mediates ephrinB1 signalling in the eye field through the planar cell polarity pathway. Nat Cell Biol (2005) 1.95
Frizzled 5 signaling governs the neural potential of progenitors in the developing Xenopus retina. Neuron (2005) 1.80
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
A comprehensive analysis of the expression of crystallins in mouse retina. Mol Vis (2003) 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
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
A directional Wnt/beta-catenin-Sox2-proneural pathway regulates the transition from proliferation to differentiation in the Xenopus retina. Development (2009) 1.28
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
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
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
Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration. Hum Mol Genet (2010) 1.18
Toll-like receptor polymorphisms and age-related macular degeneration. Invest Ophthalmol Vis Sci (2008) 1.18
Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies. Hum Mutat (2011) 1.17
Expression of photoreceptor-specific nuclear receptor NR2E3 in rod photoreceptors of fetal human retina. Invest Ophthalmol Vis Sci (2004) 1.17
Madeline 2.0 PDE: a new program for local and web-based pedigree drawing. Bioinformatics (2007) 1.17
Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3. Mamm Genome (2009) 1.16
Direct-to-consumer genetic testing: an assessment of genetic counselors' knowledge and beliefs. Genet Med (2011) 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
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
Molecular testing for hereditary retinal disease as part of clinical care. Arch Ophthalmol (2007) 1.12
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
Altered expression of genes of the Bmp/Smad and Wnt/calcium signaling pathways in the cone-only Nrl-/- mouse retina, revealed by gene profiling using custom cDNA microarrays. J Biol Chem (2004) 1.09
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. J Clin Invest (2012) 1.09
Chondroitinase ABC treatment enhances synaptogenesis between transplant and host neurons in model of retinal degeneration. Cell Transplant (2007) 1.09
Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies. Vision Res (2007) 1.08