Published in Nat Rev Genet on April 01, 2010
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Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. Proc Natl Acad Sci U S A (2011) 1.87
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy. Prog Retin Eye Res (2010) 1.81
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. Mol Vis (2010) 1.64
Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2013) 1.60
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Targeting photoreceptors via intravitreal delivery using novel, capsid-mutated AAV vectors. PLoS One (2013) 1.33
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Next-generation sequencing facilitates quantitative analysis of wild-type and Nrl(-/-) retinal transcriptomes. Mol Vis (2011) 1.29
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
Retinitis pigmentosa and allied conditions today: a paradigm of translational research. Genome Med (2010) 1.21
Transcriptional regulation of rod photoreceptor homeostasis revealed by in vivo NRL targetome analysis. PLoS Genet (2012) 1.19
Suppression and replacement gene therapy for autosomal dominant disease in a murine model of dominant retinitis pigmentosa. Mol Ther (2011) 1.16
Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants. Hum Mol Genet (2012) 1.10
AAV mediated GDNF secretion from retinal glia slows down retinal degeneration in a rat model of retinitis pigmentosa. Mol Ther (2011) 1.10
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AAV-mediated gene therapy in the guanylate cyclase (RetGC1/RetGC2) double knockout mouse model of Leber congenital amaurosis. Hum Gene Ther (2013) 1.03
Developing rods transplanted into the degenerating retina of Crx-knockout mice exhibit neural activity similar to native photoreceptors. Stem Cells (2013) 1.03
Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa. Mol Vis (2013) 1.02
Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration. Invest Ophthalmol Vis Sci (2013) 1.02
Zinc-finger-based transcriptional repression of rhodopsin in a model of dominant retinitis pigmentosa. EMBO Mol Med (2011) 1.02
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein. Hum Mol Genet (2010) 1.01
Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups. Cell Stem Cell (2016) 1.01
Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing. PLoS One (2011) 1.01
Restoration of vision in the pde6β-deficient dog, a large animal model of rod-cone dystrophy. Mol Ther (2012) 1.00
Preservation of cone photoreceptors after a rapid yet transient degeneration and remodeling in cone-only Nrl-/- mouse retina. J Neurosci (2012) 1.00
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Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene. Invest Ophthalmol Vis Sci (2011) 0.98
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Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease. Proc Natl Acad Sci U S A (2015) 0.97
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet (2013) 0.97
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. Am J Hum Genet (2014) 0.97
RPGR: Its role in photoreceptor physiology, human disease, and future therapies. Exp Eye Res (2015) 0.97
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Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants. PLoS One (2011) 0.92
Defects in the outer limiting membrane are associated with rosette development in the Nrl-/- retina. PLoS One (2012) 0.92
E2f2 induces cone photoreceptor apoptosis independent of E2f1 and E2f3. Cell Death Differ (2013) 0.92
Photoreceptor cell death and rescue in retinal detachment and degenerations. Prog Retin Eye Res (2013) 0.91
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Gene therapy of inherited retinopathies: a long and successful road from viral vectors to patients. Hum Gene Ther (2012) 0.90
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
Endothelin-2-mediated protection of mutant photoreceptors in inherited photoreceptor degeneration. PLoS One (2013) 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
Massively parallel cis-regulatory analysis in the mammalian central nervous system. Genome Res (2015) 0.89
Cluap1 is essential for ciliogenesis and photoreceptor maintenance in the vertebrate eye. Invest Ophthalmol Vis Sci (2014) 0.89
Non-erythropoietic erythropoietin derivatives protect from light-induced and genetic photoreceptor degeneration. Hum Mol Genet (2011) 0.89
Insights gained from gene therapy in animal models of retGC1 deficiency. Front Mol Neurosci (2014) 0.89
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. Proc Natl Acad Sci U S A (2015) 0.88
Altered miRNA expression in canine retinas during normal development and in models of retinal degeneration. BMC Genomics (2014) 0.88
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. Genet Med (2015) 0.88
Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa. Mol Vis (2012) 0.87
Up-regulation of tumor necrosis factor superfamily genes in early phases of photoreceptor degeneration. PLoS One (2013) 0.87
Molecular findings from 537 individuals with inherited retinal disease. J Med Genet (2016) 0.87
The transcription-splicing protein NonO/p54nrb and three NonO-interacting proteins bind to distal enhancer region and augment rhodopsin expression. Hum Mol Genet (2013) 0.87
Conditional knockdown of DNA methyltransferase 1 reveals a key role of retinal pigment epithelium integrity in photoreceptor outer segment morphogenesis. Development (2013) 0.86
Multimodal photoacoustic ophthalmoscopy in mouse. J Biophotonics (2012) 0.85
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Retinal compensatory changes after light damage in albino mice. Mol Vis (2012) 0.85
Retinal ganglion cells are resistant to photoreceptor loss in retinal degeneration. PLoS One (2013) 0.85
Regulation of a novel isoform of Receptor Expression Enhancing Protein REEP6 in rod photoreceptors by bZIP transcription factor NRL. Hum Mol Genet (2014) 0.85
A point mutation in Semaphorin 4A associates with defective endosomal sorting and causes retinal degeneration. Nat Commun (2013) 0.84
Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing. Genome Med (2013) 0.83
Cilia in cell signaling and human disorders. Protein Cell (2010) 0.83
Loss of Shp2-mediated mitogen-activated protein kinase signaling in Muller glial cells results in retinal degeneration. Mol Cell Biol (2011) 0.83
Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31. Invest Ophthalmol Vis Sci (2014) 0.83
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. Eur J Hum Genet (2015) 0.83
Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study. Ophthalmology (2016) 0.83
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement. Am J Hum Genet (2015) 0.81
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. Hum Mol Genet (2016) 0.81
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. PLoS One (2016) 0.81
Fas ligand-Fas signaling participates in light-induced apoptotic death in photoreceptor cells. Invest Ophthalmol Vis Sci (2012) 0.81
Leber congenital amaurosis caused by mutations in GUCY2D. Cold Spring Harb Perspect Med (2014) 0.81
Arf-like Protein 3 (ARL3) Regulates Protein Trafficking and Ciliogenesis in Mouse Photoreceptors. J Biol Chem (2016) 0.81
Synaptojanin 1 is required for endolysosomal trafficking of synaptic proteins in cone photoreceptor inner segments. PLoS One (2014) 0.81
Protective effects of naringenin eye drops on N-methyl-N-nitrosourea-induced photoreceptor cell death in rats. Int J Ophthalmol (2014) 0.81
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Vasoprotective effect of PDGF-CC mediated by HMOX1 rescues retinal degeneration. Proc Natl Acad Sci U S A (2014) 0.80
Sectorial loss of retinal ganglion cells in inherited photoreceptor degeneration is due to RGC death. Br J Ophthalmol (2013) 0.80
Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population. Invest Ophthalmol Vis Sci (2015) 0.79
Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress. PLoS Biol (2015) 0.79
Improvement in vision: a new goal for treatment of hereditary retinal degenerations. Expert Opin Orphan Drugs (2015) 0.79
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A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci U S A (2005) 13.44
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Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells. Hum Mol Genet (2007) 0.96
RDH12 retinopathy: novel mutations and phenotypic description. Mol Vis (2011) 0.96
Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy. Invest Ophthalmol Vis Sci (2002) 0.95
Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP). Invest Ophthalmol Vis Sci (2009) 0.94
Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration. Invest Ophthalmol Vis Sci (2011) 0.94
Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein. Int J Mol Sci (2013) 0.94
Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8. Invest Ophthalmol Vis Sci (2011) 0.92
Derivation of cerebellar neurons from human pluripotent stem cells. Curr Protoc Stem Cell Biol (2012) 0.92
Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer. Invest Ophthalmol Vis Sci (2004) 0.91
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. Eur J Hum Genet (2002) 0.91
RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation. Hum Mutat (2011) 0.90
High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation. PLoS One (2012) 0.90
A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract. Mol Vis (2011) 0.90
A study of the nuclear trafficking of the splicing factor protein PRPF31 linked to autosomal dominant retinitis pigmentosa (ADRP). Biochim Biophys Acta (2006) 0.89
Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients. Biomed Res Int (2013) 0.89
Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. Eur J Hum Genet (2013) 0.88
Hypoxia enhances the generation of retinal progenitor cells from human induced pluripotent and embryonic stem cells. Stem Cells Dev (2011) 0.88
A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG). J Glaucoma (2007) 0.88
Expression of PRPF31 and TFPT: regulation in health and retinal disease. Hum Mol Genet (2012) 0.88
The Roles of PAX6 and SOX2 in Myopia: lessons from the 1958 British Birth Cohort. Invest Ophthalmol Vis Sci (2007) 0.88
Study of p.N247S KERA mutation in a British family with cornea plana. Mol Vis (2007) 0.88
Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis". Ann Hum Genet (2013) 0.87
Hypoxia increases the yield of photoreceptors differentiating from mouse embryonic stem cells and improves the modeling of retinogenesis in vitro. Stem Cells (2013) 0.87
Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort. Hum Mutat (2011) 0.87
A 112 kb deletion in chromosome 19q13.42 leads to retinitis pigmentosa. Invest Ophthalmol Vis Sci (2011) 0.87
Evidence for keratoconus susceptibility locus on chromosome 14: a genome-wide linkage screen using single-nucleotide polymorphism markers. Arch Ophthalmol (2010) 0.87
Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31. Mol Vis (2008) 0.87
Cross species analysis of Prominin reveals a conserved cellular role in invertebrate and vertebrate photoreceptor cells. Dev Biol (2012) 0.86
ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice. Hum Mol Genet (2013) 0.85
A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population. Ophthalmic Res (2005) 0.84
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes. Hum Mutat (2010) 0.84
Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families. Ophthalmic Res (2008) 0.82
Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy. Am J Ophthalmol (2005) 0.81
Concise review: reactive astrocytes and stem cells in spinal cord injury: good guys or bad guys? Stem Cells (2015) 0.81
Brief report: astrogliosis promotes functional recovery of completely transected spinal cord following transplantation of hESC-derived oligodendrocyte and motoneuron progenitors. Stem Cells (2014) 0.81
Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene. Arch Ophthalmol (2003) 0.81