Published in Exp Eye Res on September 13, 2008
Integrative genomic analysis of medulloblastoma identifies a molecular subgroup that drives poor clinical outcome. J Clin Oncol (2010) 4.48
Coordinate regulation of FOXO1 by miR-27a, miR-96, and miR-182 in breast cancer cells. J Biol Chem (2009) 3.89
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RNAi-based suppression and replacement of rds-peripherin in retinal organotypic culture. Hum Mutat (2006) 0.98
Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene. Hum Mol Genet (2002) 0.96
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InnateDB: facilitating systems-level analyses of the mammalian innate immune response. Mol Syst Biol (2008) 4.61
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Elastic fiber homeostasis requires lysyl oxidase-like 1 protein. Nat Genet (2004) 3.83
The proteome of the mouse photoreceptor sensory cilium complex. Mol Cell Proteomics (2007) 3.53
Cyclin D1-dependent kinase activity in murine development and mammary tumorigenesis. Cancer Cell (2006) 2.91
DNA end joining becomes less efficient and more error-prone during cellular senescence. Proc Natl Acad Sci U S A (2004) 2.51
NLRP3 has a protective role in age-related macular degeneration through the induction of IL-18 by drusen components. Nat Med (2012) 2.49
The transcriptional landscape and small RNAs of Salmonella enterica serovar Typhimurium. Proc Natl Acad Sci U S A (2012) 2.39
Neural reprogramming in retinal degeneration. Invest Ophthalmol Vis Sci (2007) 2.37
Modulation of the TLR-mediated inflammatory response by the endogenous human host defense peptide LL-37. J Immunol (2006) 2.32
IL-18 attenuates experimental choroidal neovascularization as a potential therapy for wet age-related macular degeneration. Sci Transl Med (2014) 2.11
Rootletin, a novel coiled-coil protein, is a structural component of the ciliary rootlet. J Cell Biol (2002) 2.08
Spectral domain optical coherence tomography in mouse models of retinal degeneration. Invest Ophthalmol Vis Sci (2009) 2.08
RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia. Invest Ophthalmol Vis Sci (2003) 2.00
The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis. Proc Natl Acad Sci U S A (2003) 1.96
DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity. BMC Med Genet (2008) 1.95
Cone opsin mislocalization in Rpe65-/- mice: a defect that can be corrected by 11-cis retinal. Invest Ophthalmol Vis Sci (2005) 1.95
Transcription promotes contraction of CAG repeat tracts in human cells. Nat Struct Mol Biol (2006) 1.93
Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors. Hum Mol Genet (2009) 1.76
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Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice. Hum Mol Genet (2002) 1.75
LeuO is a global regulator of gene expression in Salmonella enterica serovar Typhimurium. Mol Microbiol (2012) 1.70
Altered retinal microRNA expression profile in a mouse model of retinitis pigmentosa. Genome Biol (2007) 1.67
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Eur J Hum Genet (2011) 1.66
Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Proc Natl Acad Sci U S A (2007) 1.64
R loops stimulate genetic instability of CTG.CAG repeats. Proc Natl Acad Sci U S A (2009) 1.64
The extracellular leucine-rich repeat superfamily; a comparative survey and analysis of evolutionary relationships and expression patterns. BMC Genomics (2007) 1.63
Retinal cells integrate into the outer nuclear layer and differentiate into mature photoreceptors after subretinal transplantation into adult mice. Exp Eye Res (2008) 1.62
Mouse Rab23 regulates hedgehog signaling from smoothened to Gli proteins. Dev Biol (2005) 1.62
Transcription-induced CAG repeat contraction in human cells is mediated in part by transcription-coupled nucleotide excision repair. Mol Cell Biol (2007) 1.61
Failure of elastic fiber homeostasis leads to pelvic floor disorders. Am J Pathol (2006) 1.55
AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase. Proc Natl Acad Sci U S A (2004) 1.54
On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention. EMBO J (2002) 1.53
Knock-in human rhodopsin-GFP fusions as mouse models for human disease and targets for gene therapy. Proc Natl Acad Sci U S A (2004) 1.51
Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP. Invest Ophthalmol Vis Sci (2005) 1.47
RNA interference-mediated suppression and replacement of human rhodopsin in vivo. Am J Hum Genet (2007) 1.47
AAV-mediated expression targeting of rod and cone photoreceptors with a human rhodopsin kinase promoter. Invest Ophthalmol Vis Sci (2007) 1.44
The ciliary rootlet maintains long-term stability of sensory cilia. Mol Cell Biol (2005) 1.43
Three-dimensional architecture of the rod sensory cilium and its disruption in retinal neurodegeneration. Cell (2012) 1.40
Toward a gene therapy for dominant disease: validation of an RNA interference-based mutation-independent approach. Mol Ther (2005) 1.37
Instability and chromatin structure of expanded trinucleotide repeats. Trends Genet (2009) 1.36
Rootletin interacts with C-Nap1 and may function as a physical linker between the pair of centrioles/basal bodies in cells. Mol Biol Cell (2005) 1.35
Collagen XVIII/endostatin is essential for vision and retinal pigment epithelial function. EMBO J (2003) 1.34
Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome. Vision Res (2007) 1.33
Transcription destabilizes triplet repeats. Mol Carcinog (2009) 1.31
Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss. PLoS Genet (2010) 1.31
Improved retinal function in a mouse model of dominant retinitis pigmentosa following AAV-delivered gene therapy. Mol Ther (2009) 1.29
Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline. Hum Mol Genet (2008) 1.28
Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins. Cilia (2012) 1.27
Synaptic plasticity in CNGA3(-/-) mice: cone bipolar cells react on the missing cone input and form ectopic synapses with rods. J Neurosci (2006) 1.24
On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa. Hum Mol Genet (2004) 1.24
Morphological characterization of the retina of the CNGA3(-/-)Rho(-/-) mutant mouse lacking functional cones and rods. Invest Ophthalmol Vis Sci (2004) 1.21
Genome-wide analysis of the H-NS and Sfh regulatory networks in Salmonella Typhimurium identifies a plasmid-encoded transcription silencing mechanism. Mol Microbiol (2010) 1.21
Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis. Hum Gene Ther (2010) 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
Complex expression pattern of RPGR reveals a role for purine-rich exonic splicing enhancers. Invest Ophthalmol Vis Sci (2002) 1.18
ProbeLynx: a tool for updating the association of microarray probes to genes. Nucleic Acids Res (2004) 1.17
Suppression and replacement gene therapy for autosomal dominant disease in a murine model of dominant retinitis pigmentosa. Mol Ther (2011) 1.16
FKBP8 is a negative regulator of mouse sonic hedgehog signaling in neural tissues. Development (2004) 1.15
Genetic replacement of cyclin D1 function in mouse development by cyclin D2. Mol Cell Biol (2005) 1.15
Compensatory evolution of gene regulation in response to stress by Escherichia coli lacking RpoS. PLoS Genet (2009) 1.15
Molecular analysis of fibulin-5 function during de novo synthesis of elastic fibers. Mol Cell Biol (2006) 1.13
Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90). Hum Mol Genet (2010) 1.13
An experimental platform for systemic drug delivery to the retina. Proc Natl Acad Sci U S A (2009) 1.13
Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1. Hum Mol Genet (2011) 1.12
Zinc-finger directed double-strand breaks within CAG repeat tracts promote repeat instability in human cells. Proc Natl Acad Sci U S A (2009) 1.12
Convergent transcription through a long CAG tract destabilizes repeats and induces apoptosis. Mol Cell Biol (2010) 1.12
A single, abbreviated RPGR-ORF15 variant reconstitutes RPGR function in vivo. Invest Ophthalmol Vis Sci (2005) 1.11
Tubby is required for trafficking G protein-coupled receptors to neuronal cilia. Cilia (2012) 1.10
LOXL1 promoter haplotypes are associated with exfoliation syndrome in a U.S. Caucasian population. Invest Ophthalmol Vis Sci (2011) 1.09
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. J Clin Invest (2012) 1.09
NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development. Hum Mol Genet (2010) 1.09
RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis. Hum Mol Genet (2009) 1.09
The ciliary rootlet interacts with kinesin light chains and may provide a scaffold for kinesin-1 vesicular cargos. Exp Cell Res (2005) 1.09
Hsp90 modulates CAG repeat instability in human cells. Cell Stress Chaperones (2010) 1.09
Vision tests in the mouse: Functional phenotyping with electroretinography. Front Biosci (Landmark Ed) (2009) 1.08
Diverse effects of individual mismatch repair components on transcription-induced CAG repeat instability in human cells. DNA Repair (Amst) (2009) 1.08
Dominant, gain-of-function mutant produced by truncation of RPGR. Invest Ophthalmol Vis Sci (2004) 1.07
Bovine and human cathelicidin cationic host defense peptides similarly suppress transcriptional responses to bacterial lipopolysaccharide. J Leukoc Biol (2006) 1.07
Absence of photoreceptor rescue with D-cis-diltiazem in the rd mouse. Invest Ophthalmol Vis Sci (2002) 1.06
Comparative transcript profiling of Candida albicans and Candida dubliniensis identifies SFL2, a C. albicans gene required for virulence in a reconstituted epithelial infection model. Eukaryot Cell (2009) 1.05
Genome-wide demethylation destabilizes CTG.CAG trinucleotide repeats in mammalian cells. Hum Mol Genet (2004) 1.05
Effective delivery of large genes to the retina by dual AAV vectors. EMBO Mol Med (2013) 1.04
Mislocalization and degradation of human P23H-rhodopsin-GFP in a knockin mouse model of retinitis pigmentosa. Invest Ophthalmol Vis Sci (2011) 1.04
Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10). Hum Mol Genet (2008) 1.03