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Filters: Department: "Ophthalmology" Collection: "ir_uspace"
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1 Bernstein, Paul S.; Gellermann, WernerRaman detection of macular carotenoid pigments in intact human retinaPURPOSE: To develop and test a novel noninvasive optical technique suitable for the objective measurement of macular carotenoid levels in human retina. METHODS: A resonance Raman scattering apparatus was constructed to measure carotenoid levels in flat-mounted human retinas and eyecups and in experi...Rana pipiens; Spectrum Analysis, Raman; Xanthophylls1998
2 Baehr, WolfgangNovel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degenerationPURPOSE: To identify pathogenic mutations in the guanylate cyclase-activating protein 1 (GCAP1) and GCAP2 genes and to characterize the biochemical effect of mutation on guanylate cyclase (GC) stimulation. METHODS: The GCAP1 and GCAP2 genes were screened by direct sequencing for mutations in 216 pat...DNA Mutational Analysis; Mutation, Missense; Electroretinography2004
3 Baehr, WolfgangExpression and mutagenesis of mouse rod photoreceptor cGMP phosphodiesteraseUsing recombinant baculovirus vectors, the three subunits of mouse rod photoreceptor cGMP phosphodiesterase (PDE) (alpha beta gamma 2) have been expressed in insect cells. The recombinant alpha,beta subunits accumulate to 5 mg/liter culture, but most (98%) of the expressed polypeptides are insoluble...Electrophoresis, Polyacrylamide Gel; Macromolecular Substances; Protein Processing, Post-Translational1994
4 Zhang, KangSpectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathyMutations in the frizzled-4 gene (FZD4) have recently been associated with autosomal dominant familial exudative vitreoretinopathy (FEVR) in families linking to the EVR1 locus on the long arm of chromosome 11. The purpose of this study was to screen FZD4 in a panel of 40 patients with FEVR to ident...Frizzled-4 gene; FZD4; Mutation; autosomal dominant familial exudative autosomal dominant familial exudative; FEVR2004
5 Zhang, KangLoss of ER retention and sequestration of the wild-type ELOVL4 by Stargardt disease dominant negative mutantsPURPOSE: Mutations in ELOVL4, a member of the fatty acid elongase (ELO) family, are responsible for autosomal dominant Stargardt-like macular degeneration. The specific role of ELOVL4 in photoreceptors and the degenerative events induced by dominant ELOVL4 mutations are not well understood. As a fir...Macular Degeneration; Transcription Factor CHOP; Molecular Chaperones2005
6 Normann, Richard A.; Muller, Jay F.; Kolb, HelgaSynaptic inputs to physiologically defined turtle retinal ganglion cellsTwo physiologically distinct, HRP-marked turtle retinal ganglion cells were examined for their morphology, GABAergic, glycinergic, and bipolar cell synaptic inputs, using electron-microscopic autoradiography and postembedding immunocytochemistry. One cell was a color-opponent, transient ON/OFF gangl...Turtles; Neural Pathways; Synapes; Retinal Ganglion Cells1991
7 Digre, Kathleen B.Selective MR imaging approach for evaluation of patients with Horner's syndrome.PURPOSE: To assess the usefulness of MR in the evaluation of patients with Horner's syndrome. PATIENTS AND METHODS: We prospectively performed MR imaging in 33 patients with Horner's syndrome (13 preganglionic and 20 postganglionic) using a protocol specifically designed for pre- and postganglionic ...Horner Syndrome; Magnetic Resonance Imaging; Epidemiology1992-01
8 Baehr, WolfgangMolecular characterization of human and mouse photoreceptor guanylate cyclase-activating protein (GCAP) and chromosomal localization of the human geneGuanylate cyclase-activating protein (GCAP) is a novel Ca(2+)-binding protein that stimulates synthesis of cGMP in photoreceptors. Molecular cloning of human and mouse GCAP cDNA revealed that the known mammalian GCAPs are more than 90% similar, consist of 201-205 amino acids, and contain three ident...Amino Acid Sequence; Base Sequence; Cloning, Molecular1994
9 Digre, Kathleen B.; Couldwell, William T.; Amini, AminPhotophobia in a blind patient: An alternate visual pathway. Case report.Photophobia is a common neurological and ophthalmological symptom that has been associated with a growing number of neurosurgical conditions, especially compressive lesions. The exact signaling pathways and neurophysiological features of the disorder are not well understood; however, data from multi...Photophobia, Blindness, Signaling Pathway, Pretectal Nuclei, Trigeminal Pathway2006-12-14
10 Fuhrmann, Sabine; Zhang, Jianmin; Vetter, Monica L.Investigation of Frizzled-5 during embryonic neural development in mouseCellular and tissue--tissue interactions regulate development of the central nervous system (CNS) and a paramount question is what is the nature of the signals involved in these interactions. The vertebrate eye represents an excellent and challenging CNS model because it contains multiple cell and ...Mouse; Eye; Optic cup; Morphogenesis; Retina; Lens; Wnt; Frizzled; Pituitary2008
11 Baehr, WolfgangIdentification and light-dependent translocation of a cone-specific antigen, (Cone Arrestin) recognized by monoclonal antibody 7G6PURPOSE: To elucidate the antigen recognized by monoclonal antibody (mAb) 7G6, a widely used cone-specific marker. METHODS: 7G6 immunocytochemistry was performed on sections of human, primate, and bovine retina. The antigen was immunoprecipitated from human retinal lysates and purified with protein ...Cones (Retina); Molecular Sequence Data; Phototransduction2003
12 Jones, Bryan W.Molecular phenotyping of retinal ganglion cellsClassifying all of the ganglion cells in the mammalian retina has long been a goal of anatomists, physiologists, and cell biologists. The rabbit retinal ganglion cell layer was phenotyped using intrinsic small molecule signals (aspartate, glutamate, glycine, glutamine, GABA, and taurine) and glutama...Aspartic Acid/metabolism; Image Cytometry/methods2002
13 Normann, Richard A.; Shoham, ShyCoding of position by simultaneously recorded sensory neurones in the cat dorsal root ganglionMuscle, cutaneous and joint afferents continuously signal information about the position and movement of individual joints. How does the nervous system extract more global information, for example about the position of the foot in space? To study this question we used microelectrode arrays to record...Cats; Sensory Neurones; Movement; Limb Position2004
14 Angelucci, Alessandra; Lund, Jennifer S.Circuits for local and global signal integration in primary visual cortexContrast-dependent changes in spatial summation and contextual modulation of primary visual cortex (V1) neuron responses to stimulation of their receptive field reveal long-distance integration of visual signals within V1, well beyond the classical receptive field (cRF) of single neurons. To identif...Primary Visual Cortex; Extrastriate Cortex; Feed-back Connections; Lateral Connections; SUrround Modulation; Macaque2002-10-01
15 Bernstein, Paul S.; Zabriskie, Norman A.; Zhang, Kang; Leppert, Mark F.Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 genePURPOSE: A 5-bp deletion in ELOVL4, a photoreceptor-specific gene, has been associated with autosomal dominant (ad) macular dystrophy phenotypes in five related families, in which phenotypes range from Stargardt-like macular dystrophy (STGD3; Mendelian Inheritance in Man 600110) to pattern dystrophy...Linkage (Genetics); Middle Older people; Phenotype2001
16 Bernstein, Paul S.Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration2001
17 Bernstein, Paul S.; Leppert, Mark F.Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblingsPURPOSE: Single-copy variants of the autosomal recessive Stargardt disease (STGD1) gene ABCR (ABCA4) have been shown to confer enhanced susceptibility to age-related macular degeneration (AMD). To investigate the role of ABCR alleles in AMD further, genotype-phenotype analysis was performed on sibli...DNA Mutational Analysis; Nuclear Family; Phenotype2002
18 Bernstein, Paul S.Human retinal pigment epithelial cell line that retains epithelial characteristics after prolonged culturePURPOSE. A spontaneously arising, apparently transformed, cell line has been cloned from a primary culture of human retinal pigment epithelial (RPE) cells and has been subcultured more than 200 times. The similarities of these cells to human RPE cells in vivo have been determined. METHODS. The struc...Cell Line, Transformed; Chromatography, High Pressure Liquid; Phagocytosis1995
19 Zhang, KangIdentification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy2001
20 Baehr, Wolfgang; Frederick, Jeanne M.; Church-Kopish, Jill; Howes, KimberlyMutant rhodopsin transgene expression on a null backgroundPURPOSE. To study mechanisms leading to photoreceptor degeneration in mouse models for autosomal dominant retinitis pigmentosa (adRP) based on the rhodopsin P23H mutation. METHODS. Mice of a transgenic line expressing a rhodopsin triple mutant, V20G, P23H, and P27L (GHL), were mated with rhodopsin (...Mutant Rhodopsin; Photoreceptor Degeneration; Autosomal Dominant Retinitis Pigmentosa; Rhodopsin2001-03
21 Baehr, WolfgangHuman interstitial retinoid-binding protein. Gene structure and primary structureInterstitial retinoid-binding protein (IRBP) is synthesized and secreted by rod photoreceptor cells into the interphotoreceptor matrix and is known to bind retinoids and fatty acids. We have used cDNA clones encoding human IRBP to isolate a 15-kilobase genomic fragment that encompasses the complete ...Molecular Sequence Data; Eye Proteins; Retinol-Binding Proteins; Messenger RNA1989-05-15
22 Baehr, WolfgangMouse opsin. Gene structure and molecular basis of multiple transcriptsThe single copy mouse opsin gene produces five major transcripts, varying in size from 1.7 to 5.1 kilobases. The mRNAs are present at levels that vary over 2 orders of magnitude and can be detected as early as postnatal day 1. Each of the transcripts is polyadenylated and can be identified in polyso...Polyribosomes; Restriction Mapping; Sequence Homology, Nucleic Acid1990
23 Baehr, WolfgangReceptors for advanced glycation end products as progressive factors in age-related macular degenerationAdvanced glycation end products (AGE) exacerbate disease progression through two general mechanisms: modifying molecules and forming nondegradable aggregates, thus impairing normal cellular/tissue functions, and altering cellular function directly through receptor-mediated activation. In the prese...Advanced glycation end products; AGE; receptor for AGE-mediated cellular activation; RAGE2004
24 Baehr, WolfgangCloning of frog rod photoreceptor cGMP phosphodiesterase subunits (P-alpha, P-beta, P-gamma) and identification of P-gamma) sites involved in the stimulation of cGMP binding to P-alpha and P-beta non-catalytic sitesRetinal cGMP phosphodiesterase (PDE6) is a key enzyme in vertebrate phototransduction. Rod PDE contains two homologous catalytic subunits (Pd two identical regulatory subunits (P). Biochemical studies have shown that amphibian P has high affinity, cGMP-specific, non-catalytic binding sites and that ...Phototransduction; Retinal cGMP phosphodiesterase; Amphibian PDE2002
25 Fuhrmann, SabineExpression of CNTF receptor-alpha in chick violet-sensitive cones with unique morphologic properties.PURPOSE: Application of ciliary neurotrophic factor (CNTF) can rescue mature photoreceptors from lesion-induced and hereditary degeneration. In the chick retina, expression of the CNTF receptor is present in a subpopulation of photoreceptor cells. The present study was undertaken to identify the CNT...embryology; cytology2004
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