Published in Proc Natl Acad Sci U S A on March 28, 2000
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 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
Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies. J Clin Invest (2010) 2.13
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
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
SARA-regulated vesicular targeting underlies formation of the light-sensing organelle in mammalian rods. Cell (2007) 1.91
RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins. J Biol Chem (2005) 1.67
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
Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. Invest Ophthalmol Vis Sci (2002) 1.58
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
Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. Proc Natl Acad Sci U S A (2002) 1.51
Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations. Invest Ophthalmol Vis Sci (2007) 1.37
Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss. PLoS Genet (2010) 1.31
Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15. Am J Hum Genet (2000) 1.28
Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins. Cilia (2012) 1.27
Evaluation of the 17-kDa prenyl-binding protein as a regulatory protein for phototransduction in retinal photoreceptors. J Biol Chem (2004) 1.25
Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival. Proc Natl Acad Sci U S A (2010) 1.24
Electrophysiological analysis of visual function in mutant mice. Doc Ophthalmol (2003) 1.22
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
Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration. Hum Mol Genet (2010) 1.18
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
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
Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies. Vision Res (2007) 1.08
Biology and therapy of inherited retinal degenerative disease: insights from mouse models. Dis Model Mech (2015) 1.05
Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms. Hum Mol Genet (2005) 1.04
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
Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3. Mol Vis (2007) 1.02
Age-dependent disease expression determines remodeling of the retinal mosaic in carriers of RPGR exon ORF15 mutations. Invest Ophthalmol Vis Sci (2009) 1.00
The interplay between RPGR, PDEδ and Arl2/3 regulate the ciliary targeting of farnesylated cargo. EMBO Rep (2013) 0.98
The role of primary cilia in the development and disease of the retina. Organogenesis (2013) 0.98
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
Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors. Invest Ophthalmol Vis Sci (2011) 0.97
Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa. J Neurosci (2009) 0.97
Choroideremia: analysis of the retina from a female symptomatic carrier. Ophthalmic Genet (2008) 0.97
RPGR: Its role in photoreceptor physiology, human disease, and future therapies. Exp Eye Res (2015) 0.97
Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations. Proc Natl Acad Sci U S A (2016) 0.96
RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction. J Genet (2009) 0.94
Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases. Expert Opin Ther Targets (2012) 0.94
Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP). Adv Exp Med Biol (2010) 0.93
Photoreceptor sensory cilia and inherited retinal degeneration. Adv Exp Med Biol (2010) 0.91
RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms. Invest Ophthalmol Vis Sci (2012) 0.90
RPGR-associated retinal degeneration in human X-linked RP and a murine model. Invest Ophthalmol Vis Sci (2012) 0.90
Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model. PLoS Genet (2013) 0.89
Barriers for retinal gene therapy: separating fact from fiction. Vision Res (2008) 0.88
Education influences the association between genetic variants and refractive error: a meta-analysis of five Singapore studies. Hum Mol Genet (2013) 0.88
A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration. Hum Mol Genet (2015) 0.87
Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases. Gene (2007) 0.86
Structural and functional characteristics in carriers of X-linked retinitis pigmentosa with a tapetal-like reflex. Retina (2010) 0.86
Increased light exposure alleviates one form of photoreceptor degeneration marked by elevated calcium in the dark. PLoS One (2009) 0.86
Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder. F1000Prime Rep (2015) 0.86
Misexpression of the constitutive Rpgr(ex1-19) variant leads to severe photoreceptor degeneration. Invest Ophthalmol Vis Sci (2011) 0.84
Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition. Sci Rep (2015) 0.83
Photoreceptor rescue by an abbreviated human RPGR gene in a murine model of X-linked retinitis pigmentosa. Gene Ther (2015) 0.82
Stability and Safety of an AAV Vector for Treating RPGR-ORF15 X-Linked Retinitis Pigmentosa. Hum Gene Ther (2015) 0.82
The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate. Mol Cells (2017) 0.82
Clinical course of cone dystrophy caused by mutations in the RPGR gene. Graefes Arch Clin Exp Ophthalmol (2011) 0.81
Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR. Cold Spring Harb Perspect Med (2014) 0.81
Retinal pathology of a patient with Goldmann-Favre syndrome. Ophthalmic Genet (2009) 0.79
Nd6p, a novel protein with RCC1-like domains involved in exocytosis in Paramecium tetraurelia. Eukaryot Cell (2005) 0.79
The Role of RPGR and Its Interacting Proteins in Ciliopathies. J Ophthalmol (2015) 0.79
Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR. Hum Mol Genet (2016) 0.79
Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms. Biol Open (2011) 0.78
Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina. Hum Mol Genet (2016) 0.77
Drosophila Hook-Related Protein (Girdin) Is Essential for Sensory Dendrite Formation. Genetics (2015) 0.76
A large deletion in RPGR causes XLPRA in Weimaraner dogs. Canine Genet Epidemiol (2016) 0.76
The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo. Biol Open (2016) 0.76
Generation of a genetically encoded marker of rod photoreceptor outer segment growth and renewal. Biol Open (2011) 0.75
Molecular studies of phenotype variation in canine RPGR-XLPRA1. Mol Vis (2016) 0.75
Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family. Mol Vis (2017) 0.75
Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa. Mol Ther (2017) 0.75
Nucleocytoplasmic transport. Science (1996) 8.76
Maps from two interspecific backcross DNA panels available as a community genetic mapping resource. Mamm Genome (1994) 5.38
Dicistronic targeting constructs: reporters and modifiers of mammalian gene expression. Proc Natl Acad Sci U S A (1994) 4.44
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet (1996) 3.31
Myosin VIIa participates in opsin transport through the photoreceptor cilium. J Neurosci (1999) 2.44
Rod phototransduction in retinitis pigmentosa: estimation and interpretation of parameters derived from the rod a-wave. Invest Ophthalmol Vis Sci (1994) 2.02
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Hum Mol Genet (1996) 1.90
Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures. Proc Natl Acad Sci U S A (1998) 1.90
Increased incidence of abnormal nasal cilia in patients with retinitis pigmentosa. Nature (1979) 1.87
Cyclophilin-related protein RanBP2 acts as chaperone for red/green opsin. Nature (1996) 1.60
Rod and cone responses in sex-linked retinitis pigmentosa. Arch Ophthalmol (1969) 1.58
Photoreceptor membrane proteins, phototransduction, and retinal degenerative diseases. The Friedenwald Lecture. Invest Ophthalmol Vis Sci (1998) 1.58
Unique topographic separation of two spectral classes of cones in the mouse retina. J Comp Neurol (1992) 1.55
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. Hum Mol Genet (1999) 1.53
The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase. Proc Natl Acad Sci U S A (1999) 1.46
Properties of the mouse cone-mediated electroretinogram during light adaptation. Neurosci Lett (1993) 1.46
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. Am J Hum Genet (1997) 1.45
Gamma-tubulin in differentiated cell types: localization in the vicinity of basal bodies in retinal photoreceptors and ciliated epithelia. J Cell Sci (1993) 1.39
Risk factors for genetic typing and detection in retinitis pigmentosa. Am J Ophthalmol (1980) 1.35
Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr). J Biol Chem (1998) 1.24
Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene. Invest Ophthalmol Vis Sci (1997) 1.22
A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities. Hum Genet (1992) 1.12
Distribution of membrane proteins in mechanically dissociated retinal rods. Invest Ophthalmol Vis Sci (1988) 1.04
A sequence upstream of the mouse blue visual pigment gene directs blue cone-specific transgene expression in mouse retinas. Vis Neurosci (1994) 1.03
Overexpression of Bcl-2 or Bcl-XL transgenes and photoreceptor degeneration. Invest Ophthalmol Vis Sci (1996) 0.99
X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60. Ophthalmology (1998) 0.95
Expression of phototransduction cascade genes in the ground squirrel retina. Invest Ophthalmol Vis Sci (1994) 0.87
Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3). Hum Mutat (1999) 0.87
X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR. Arch Ophthalmol (1997) 0.86
Relationship of oscillatory potential amplitude to A-wave slope over a range of flash luminances in normal subjects. Invest Ophthalmol Vis Sci (1991) 0.86
Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene. Invest Ophthalmol Vis Sci (1998) 0.84
Isolation of putative progenitor endothelial cells for angiogenesis. Science (1997) 30.27
A physical map of the human genome. Nature (2001) 12.39
A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa. Arch Ophthalmol (1993) 7.73
Transplantation of ex vivo expanded endothelial progenitor cells for therapeutic neovascularization. Proc Natl Acad Sci U S A (2000) 6.59
Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase. Nature (1990) 6.29
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature (1990) 6.19
Cyclin D1 provides a link between development and oncogenesis in the retina and breast. Cell (1995) 6.08
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science (1994) 4.86
Live attenuated malaria vaccine designed to protect through hepatic CD8⁺ T cell immunity. Science (2011) 4.72
Resistance studies with daptomycin. Antimicrob Agents Chemother (2001) 3.63
A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet (1992) 3.51
Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat Genet (1993) 3.49
Retinopathy and attenuated circadian entrainment in Crx-deficient mice. Nat Genet (1999) 3.42
Mechanism of NO-induced oxidation of myoglobin and hemoglobin. Biochemistry (1996) 3.36
Efficacy and safety of abatacept or infliximab vs placebo in ATTEST: a phase III, multi-centre, randomised, double-blind, placebo-controlled study in patients with rheumatoid arthritis and an inadequate response to methotrexate. Ann Rheum Dis (2007) 3.31
Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol (1984) 3.30
Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa. Neuron (1992) 3.25
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci U S A (1998) 3.22
Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med (1990) 3.21
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature (1991) 3.00
Perturbation of CD4+ and CD8+ T-cell repertoires during progression to AIDS and regulation of the CD4+ repertoire during antiviral therapy. Nat Med (1998) 2.99
Natural course of retinitis pigmentosa over a three-year interval. Am J Ophthalmol (1985) 2.98
Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A (1991) 2.83
Association between 5-HT2A gene promoter polymorphism and anorexia nervosa. Lancet (1997) 2.83
Role in cell permeability of an essential two-component system in Staphylococcus aureus. J Bacteriol (1999) 2.73
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet (2000) 2.66
Evaluation of patients with retinitis pigmentosa receiving electric stimulation, ozonated blood, and ocular surgery in Cuba. Arch Ophthalmol (1996) 2.63
A novel functional polymorphism within the promoter of the serotonin transporter gene: possible role in susceptibility to affective disorders. Mol Psychiatry (1996) 2.60
Rescue of cyclin D1 deficiency by knockin cyclin E. Cell (1999) 2.54
Measurement of genetic structure within populations using Moran's spatial autocorrelation statistics. Proc Natl Acad Sci U S A (1996) 2.48
Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci U S A (1995) 2.41
Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet (2001) 2.40
Synthesis of epothilones A and B in solid and solution phase. Nature (1997) 2.35
The effect of multiple reexcisions on the risk of local recurrence after breast conserving surgery. Ann Surg Oncol (2007) 2.32
The efficacy and safety of abatacept in patients with non-life-threatening manifestations of systemic lupus erythematosus: results of a twelve-month, multicenter, exploratory, phase IIb, randomized, double-blind, placebo-controlled trial. Arthritis Rheum (2010) 2.27
Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His). Arch Ophthalmol (1991) 2.26
Broad-spectrum mildew resistance in Arabidopsis thaliana mediated by RPW8. Science (2001) 2.23
Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat Genet (1997) 2.19
Molecular genetics of retinitis pigmentosa. Hum Mol Genet (1995) 2.18
Nitric-oxide dioxygenase activity and function of flavohemoglobins. sensitivity to nitric oxide and carbon monoxide inhibition. J Biol Chem (2000) 2.13
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci U S A (1995) 2.10
Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium. J Biol Chem (2000) 2.08
Histopathologic findings in Best's vitelliform macular dystrophy. Arch Ophthalmol (1988) 2.06
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat Genet (1999) 2.04
An electroretinographic and molecular genetic study of X-linked cone degeneration. Am J Ophthalmol (1989) 2.03
Neural retinal cell transplantation: ideal versus reality. Ophthalmology (1999) 2.02
Efficacy and safety of the selective co-stimulation modulator abatacept following 2 years of treatment in patients with rheumatoid arthritis and an inadequate response to anti-tumour necrosis factor therapy. Ann Rheum Dis (2007) 2.01
Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nat Genet (1998) 2.00
Pathophysiological topography of acute ischemia by combined diffusion-weighted and perfusion MRI. Stroke (1999) 1.98
Localization of a retroviral element within the rd gene coding for the beta subunit of cGMP phosphodiesterase. Proc Natl Acad Sci U S A (1993) 1.95
One polypeptide with two aminoacyl-tRNA synthetase activities. Science (2000) 1.94
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet (1993) 1.93
Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures. Proc Natl Acad Sci U S A (1998) 1.90
A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nat Genet (1993) 1.86
Adriamycin-induced heart failure: mechanism and modulation. Mol Cell Biochem (2000) 1.81
Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet (1999) 1.81
The frequency and distribution of thiopurine methyltransferase alleles in Caucasian and Asian populations. Pharmacogenetics (1999) 1.76
Prevalence of human respiratory viruses in adults with acute respiratory tract infections in Beijing, 2005-2007. Clin Microbiol Infect (2009) 1.76
Electroretinographic testing as an aid in detection of carriers of X-chromosome-linked retinitis pigmentosa. Am J Ophthalmol (1979) 1.75
MicroRNA-7 functions as an anti-metastatic microRNA in gastric cancer by targeting insulin-like growth factor-1 receptor. Oncogene (2012) 1.74
Dominant retinitis pigmentosa with reduced penetrance. Arch Ophthalmol (1969) 1.73
Rod responses in retinitis pigmentosa, dominantly inherited. Arch Ophthalmol (1968) 1.73
Recent advances in brain injury research: a new human head model development and validation. Stapp Car Crash J (2001) 1.73
CP1 domain in Escherichia coli leucyl-tRNA synthetase is crucial for its editing function. Biochemistry (2000) 1.70
MDR1 pharmacogenetics: frequency of the C3435T mutation in exon 26 is significantly influenced by ethnicity. Pharmacogenetics (2001) 1.70
Isolation and characterization of a sigB deletion mutant of Staphylococcus aureus. Infect Immun (1999) 1.68
Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. Invest Ophthalmol Vis Sci (1997) 1.67
KLF8 promotes human breast cancer cell invasion and metastasis by transcriptional activation of MMP9. Oncogene (2010) 1.65
Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine. Am J Ophthalmol (1991) 1.64
A role for the Tubby-like protein 1 in rhodopsin transport. Invest Ophthalmol Vis Sci (2001) 1.64
LRRK2 Gly2385Arg variant is a risk factor of Parkinson's disease among Han-Chinese from mainland China. Eur J Neurol (2008) 1.64
SAP90 binds and clusters kainate receptors causing incomplete desensitization. Neuron (1998) 1.63
CD4+Ki67+ lymphocytes in HIV-infected patients are effector T cells accumulated in the G1 phase of the cell cycle. Eur J Immunol (2000) 1.62
Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nat Genet (1995) 1.61
Retinal degeneration in tulp1-/- mice: vesicular accumulation in the interphotoreceptor matrix. Invest Ophthalmol Vis Sci (1999) 1.61
Requirement for the c-Maf transcription factor in crystallin gene regulation and lens development. Proc Natl Acad Sci U S A (1999) 1.60
The 6-month safety and efficacy of abatacept in patients with rheumatoid arthritis who underwent a washout after anti-tumour necrosis factor therapy or were directly switched to abatacept: the ARRIVE trial. Ann Rheum Dis (2008) 1.59
Rod and cone responses in sex-linked retinitis pigmentosa. Arch Ophthalmol (1969) 1.58
Effects of diacetyl monoxime on cardiac excitation-contraction coupling. J Pharmacol Exp Ther (1985) 1.57
The GTPase activating factor for transducin in rod photoreceptors is the complex between RGS9 and type 5 G protein beta subunit. Proc Natl Acad Sci U S A (1999) 1.56
Responsiveness of patient reported outcomes including fatigue, sleep quality, activity limitation, and quality of life following treatment with abatacept for rheumatoid arthritis. Ann Rheum Dis (2007) 1.55
Hyperopia and neovascularization in age-related macular degeneration. Ophthalmology (1993) 1.54
Scattering and interference in epitaxial graphene. Science (2007) 1.54
The value of apparent diffusion coefficient maps in early cerebral ischemia. AJNR Am J Neuroradiol (2001) 1.54
Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration. Proc Natl Acad Sci U S A (1995) 1.52
Symmetric and asymmetric DNA methylation in the human IGF2-H19 imprinted region. Genomics (2000) 1.51
Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina. Am J Hum Genet (1978) 1.51
Identification of novel CHD1-associated collaborative alterations of genomic structure and functional assessment of CHD1 in prostate cancer. Oncogene (2011) 1.50