Eye Proteins

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  Subject Areas on Research

  • A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. 
  • A role for myocilin in receptor-mediated endocytosis. 
  • APOE Isoforms Control Pathogenic Subretinal Inflammation in Age-Related Macular Degeneration. 
  • Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene. 
  • Absence of synaptic regulation by phosducin in retinal slices. 
  • Alterations in human trabecular meshwork cell homeostasis by selenium. 
  • An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation. 
  • Analysis of the molecular interaction of the farnesyl moiety of transducin through the use of a photoreactive farnesyl analogue. 
  • Angiotensin II-induced hypertension regulates AT1 receptor subtypes and extracellular matrix turnover in mouse retinal pigment epithelium. 
  • Aquaporin-1 expression and conventional aqueous outflow in human eyes. 
  • Association of common SIX6 polymorphisms with peripapillary retinal nerve fiber layer thickness: the Singapore Chinese Eye Study. 
  • Autoimmune dacryoadenitis of NOD/LtJ mice and its subsequent effects on tear protein composition. 
  • Autophagic dysregulation in glaucomatous trabecular meshwork cells. 
  • Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications. 
  • BMP4 is essential for lens induction in the mouse embryo. 
  • Beta-adrenergic receptor kinase: identification of a novel protein kinase that phosphorylates the agonist-occupied form of the receptor. 
  • Beta-arrestin2, a novel member of the arrestin/beta-arrestin gene family. 
  • CMPK1 and RBP3 are associated with corneal curvature in Asian populations. 
  • CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States. 
  • Changes in the expression of transcription factors ATF-2 and Fra-2 after axotomy and during regeneration in rat retinal ganglion cells. 
  • Characterization of free-floating spheres from human trabecular meshwork (HTM) cell culture in vitro. 
  • Characterization of gene expression in human trabecular meshwork using single-pass sequencing of 1060 clones. 
  • Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. 
  • Cloning of zebrafish vsx1: expression of a paired-like homeobox gene during CNS development. 
  • Coiled-coil targeting of myocilin to intracellular membranes. 
  • Comment on "Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism". 
  • Comment on 'A PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia'. 
  • Cyclic phosphorylation-dephosphorylation of rhodopsin in retina by protein kinase FA (the activator of ATP.Mg-dependent protein phosphatase). 
  • Cytoprotective effects of proteasome beta5 subunit overexpression in lens epithelial cells. 
  • DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma. 
  • Desensitization of G protein-coupled receptors. 
  • Desensitization of the isolated beta 2-adrenergic receptor by beta-adrenergic receptor kinase, cAMP-dependent protein kinase, and protein kinase C occurs via distinct molecular mechanisms. 
  • Determination of the G beta gamma-binding domain of phosducin. A regulatable modulator of G beta gamma signaling. 
  • Differential gene expression in mouse sclera during ocular development. 
  • Differential response and withdrawal profile of glucocorticoid-treated human trabecular meshwork cells. 
  • Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa. 
  • Disruption of PAX6 function in mice homozygous for the Pax6Sey-1Neu mutation produces abnormalities in the early development and regionalization of the diencephalon. 
  • Dissecting the genetics of human high myopia: a molecular biologic approach. 
  • Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. 
  • Downregulation of a unique photoreceptor protein correlates with improper outer segment assembly. 
  • Dynamin and beta-arrestin reveal distinct mechanisms for G protein-coupled receptor internalization. 
  • Efficacy of low-release-rate fluocinolone acetonide intravitreal implants to treat experimental uveitis. 
  • Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration. 
  • Exome Sequence Analysis of 14 Families With High Myopia. 
  • Expression of interleukin-1 alpha, interleukin-1 beta, and an interleukin-1 receptor antagonist in human retinal pigment epithelial cells. 
  • Expression of the blue-light receptor cryptochrome in the human retina. 
  • Extracellular trafficking of myocilin in human trabecular meshwork cells. 
  • Failure of the ILD to determine data combinability for slow loris phylogeny. 
  • Functional desensitization of the isolated beta-adrenergic receptor by the beta-adrenergic receptor kinase: potential role of an analog of the retinal protein arrestin (48-kDa protein). 
  • G-protein-coupled receptors: regulatory role of receptor kinases and arrestin proteins. 
  • Gene expression profile in human trabecular meshwork from patients with primary open-angle glaucoma. 
  • Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. 
  • Genes upregulated in the human trabecular meshwork in response to elevated intraocular pressure. 
  • Genetic Variants in CPA6 and PRPF31 Are Associated With Variation in Response to Metformin in Individuals With Type 2 Diabetes. 
  • Genetic mapping of the beta-arrestin 1 and 2 genes on mouse chromosomes 7 and 11 respectively. 
  • Genetics of adult glaucoma. 
  • Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease. 
  • Glaucoma genetics. 
  • Glaucoma in Ghana, West Africa: clinical features and the role of mutations in Myocilin. 
  • Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma. 
  • Growth factor receptor-bound protein 14 undergoes light-dependent intracellular translocation in rod photoreceptors: functional role in retinal insulin receptor activation. 
  • Hic-5 Regulates Actin Cytoskeletal Reorganization and Expression of Fibrogenic Markers and Myocilin in Trabecular Meshwork Cells. 
  • Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant. 
  • Identification of genes expressed in a human scleral cDNA library. 
  • Identification of novel genes preferentially expressed in the retina using a custom human retina cDNA microarray. 
  • Identification of two novel mutations in families with X-linked ocular albinism. 
  • Increasing evidence for syndromic phenotypes associated with RPGR mutations. 
  • Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms. 
  • Isolation of retinal proteins that interact with retinitis pigmentosa GTPase regulator by interaction trap screen in yeast. 
  • Isolation, culture, and characterization of endothelial cells from Schlemm's canal. 
  • Isoprenylation in regulation of signal transduction by G-protein-coupled receptor kinases. 
  • Isoprenylation of a protein kinase. Requirement of farnesylation/alpha-carboxyl methylation for full enzymatic activity of rhodopsin kinase. 
  • L-DOPA is an endogenous ligand for OA1. 
  • L-type calcium channels play a critical role in maintaining lens transparency by regulating phosphorylation of aquaporin-0 and myosin light chain and expression of connexins. 
  • Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma. 
  • Lifetime regulation of G protein-effector complex: emerging importance of RGS proteins. 
  • Ligatin from embryonic chick neural retina. 
  • Localization of three genes expressed in retina on mouse chromosome 11. 
  • Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma. 
  • Mechanistic basis for the failure of cone transducin to translocate: why cones are never blinded by light. 
  • Microarray analysis of gene expression in adult retinal ganglion cells. 
  • Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene. 
  • Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. 
  • Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG. 
  • Myocilin levels in primary open-angle glaucoma and pseudoexfoliation glaucoma human aqueous humor. 
  • Myocilin mutations in black South Africans with POAG. 
  • Myocilin polymorphisms and high myopia in subjects of European origin. 
  • Myocilin, a component of a membrane-associated protein complex driven by a homologous Q-SNARE domain. 
  • Myocilin-associated exosomes in human ocular samples. 
  • Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. 
  • Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity. 
  • North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis. 
  • Odorant receptors and desensitization proteins colocalize in mammalian sperm. 
  • Onset of feedback reactions underlying vertebrate rod photoreceptor light adaptation. 
  • Opsin, G-protein and 48-kDa protein in normal and rd mouse retinas: developmental expression of mRNAs and proteins and light/dark cycling of mRNAs. 
  • Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association. 
  • Overexpression of beta-arrestin and beta-adrenergic receptor kinase augment desensitization of beta 2-adrenergic receptors. 
  • Paraneoplastic retinopathy with multiple detachments of the neurosensory retina and autoantibodies against interphotoreceptor retinoid binding protein (IRBP) in cutaneous melanoma. 
  • Pax6- and Six3-mediated induction of lens cell fate in mouse and human ES cells. 
  • Pentablock copolymer dexamethasone nanoformulations elevate MYOC: in vitro liberation, activity and safety in human trabecular meshwork cells. 
  • Phosducin facilitates light-driven transducin translocation in rod photoreceptors. Evidence from the phosducin knockout mouse. 
  • Phosducin regulates the expression of transducin betagamma subunits in rod photoreceptors and does not contribute to phototransduction adaptation. 
  • Phosducin regulates transmission at the photoreceptor-to-ON-bipolar cell synapse. 
  • Phosphorylation and desensitization of the human beta 1-adrenergic receptor. Involvement of G protein-coupled receptor kinases and cAMP-dependent protein kinase. 
  • Photoreceptor phosphodiesterase: interaction of inhibitory gamma subunit and cyclic GMP with specific binding sites on catalytic subunits. 
  • Pigment epithelium-derived factor decreases outflow facility. 
  • Pigment epithelium-derived factor supports normal Müller cell development and glutamine synthetase expression after removal of the retinal pigment epithelium. 
  • Pigment epithelium-derived factor supports normal development of photoreceptor neurons and opsin expression after retinal pigment epithelium removal. 
  • Predicting the pathogenicity of RPE65 mutations. 
  • Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. 
  • Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa. 
  • Progressive Rod-Cone Degeneration (PRCD) Protein Requires N-Terminal S-Acylation and Rhodopsin Binding for Photoreceptor Outer Segment Localization and Maintaining Intracellular Stability. 
  • Prolonged dark adaptation changes connexin expression in the mouse retina. 
  • Protein kinases that phosphorylate activated G protein-coupled receptors. 
  • Protein profile of exosomes from trabecular meshwork cells. 
  • Protein translocation in photoreceptor light adaptation: a common theme in vertebrate and invertebrate vision. 
  • Proteome analysis of the rat cornea during angiogenesis. 
  • Proteomic identification of unique photoreceptor disc components reveals the presence of PRCD, a protein linked to retinal degeneration. 
  • Proteomic profiling of a layered tissue reveals unique glycolytic specializations of photoreceptor cells. 
  • Proteomics characterization of cell membrane blebs in human retinal pigment epithelium cells. 
  • Purification and characterization of the beta-adrenergic receptor kinase. 
  • Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy. 
  • Putative human blue-light photoreceptors hCRY1 and hCRY2 are flavoproteins. 
  • RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia. 
  • RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons. 
  • Receptor-specific desensitization with purified proteins. Kinase dependence and receptor specificity of beta-arrestin and arrestin in the beta 2-adrenergic receptor and rhodopsin systems. 
  • Recoverin improves rod-mediated vision by enhancing signal transmission in the mouse retina. 
  • Recoverin undergoes light-dependent intracellular translocation in rod photoreceptors. 
  • Regulation of myocilin-associated exosome release from human trabecular meshwork cells. 
  • Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene. 
  • RhoA GTPase-induced ocular hypertension in a rodent model is associated with increased fibrogenic activity in the trabecular meshwork. 
  • Rhodopsin maturation antagonized by dominant rhodopsin mutants. 
  • Rhodopsin phosphorylation: from terminating single photon responses to photoreceptor dark adaptation. 
  • Rhodopsin transgenic pigs as a model for human retinitis pigmentosa. 
  • Role of acidic amino acids in peptide substrates of the beta-adrenergic receptor kinase and rhodopsin kinase. 
  • Role of beta-arrestin in mediating agonist-promoted G protein-coupled receptor internalization. 
  • Role of mouse cryptochrome blue-light photoreceptor in circadian photoresponses. 
  • Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. 
  • Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons. 
  • Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. 
  • Serial analysis of gene expression (SAGE) in normal human trabecular meshwork. 
  • Single origin of Malagasy Carnivora from an African ancestor. 
  • Single-target molecule detection with nonbleaching multicolor optical immunolabels. 
  • Sorting of lens aquaporins and connexins into raft and nonraft bilayers: role of protein homo-oligomerization. 
  • Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species. 
  • Sphingosine-1-phosphate effects on the inner wall of Schlemm's canal and outflow facility in perfused human eyes. 
  • Sub-retinal drusenoid deposits in human retina: organization and composition. 
  • TIGR/myocilin in human aqueous humor. 
  • Tgf-beta inhibits activation and uveitogenicity of primary but not of fully polarized retinal antigen-specific memory-effector T cells. 
  • The LOV domain family: photoresponsive signaling modules coupled to diverse output domains. 
  • The alpha-helical domain of Galphat determines specific interaction with regulator of G protein signaling 9. 
  • The circadian regulatory proteins BMAL1 and cryptochromes are substrates of casein kinase Iepsilon. 
  • The effects of Cenozoic global change on squirrel phylogeny. 
  • The genetics of primary open-angle glaucoma: a review. 
  • The receptor kinase family: primary structure of rhodopsin kinase reveals similarities to the beta-adrenergic receptor kinase. 
  • The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. 
  • The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development. 
  • The role of proteolytic cellular systems in trabecular meshwork homeostasis. 
  • The scarlet eye colour gene of the tephritid fruit fly: Bactrocera tryoni and the nature of two eye colour mutations. 
  • The structural organization and protein composition of lens fiber junctions. 
  • The water permeability of lens aquaporin-0 depends on its lipid bilayer environment. 
  • The white gene of the tephritid fruit fly Bactrocera tryoni is characterized by a long untranslated 5' leader and a 12kb first intron. 
  • Transcriptome analysis of adult and fetal trabecular meshwork, cornea, and ciliary body tissues by RNA sequencing. 
  • Transducin gamma-subunit sets expression levels of alpha- and beta-subunits and is crucial for rod viability. 
  • Transplantation of full-thickness retina in the rhodopsin transgenic pig. 
  • Ubiquitylation of the transducin betagamma subunit complex. Regulation by phosducin. 
  • Unique response profile of trabecular meshwork cells to the novel selective glucocorticoid receptor agonist, GW870086X. 
  • Unusual phenotypic expression of an XLRS1 mutation in X-linked juvenile retinoschisis. 
  • Visual impairment in an optineurin mouse model of primary open-angle glaucoma. 
  • Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31. 
  • X-linked high myopia associated with cone dysfunction. 
  • beta-Arrestin: a protein that regulates beta-adrenergic receptor function. 
  • mRNAs coding for proteins of the cGMP cascade in the degenerative retina of the rd mouse. 
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  Keywords of People

  • Bowes Rickman, Catherine, Professor of Ophthalmology, Cell Biology
  • Ferreira, Paulo Alexandre, Associate Professor in Ophthalmology, Pathology
  • Mruthyunjaya, Prithvi, Adjunct Associate Professor in the Department of Ophthalmology, Ophthalmology, Vitreoretinal Diseases & Surgery
  • Roth, V. Louise, Professor in the Department of Biology, Evolutionary Anthropology