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Creator | Title | Description | Subject | Date |
51 |
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Zhang, Kang | Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities | PURPOSE: The PITX3 gene, which codes for a homeobox bicoidlike transcription factor is responsible for dominant cataract and anterior segment mesenchymal dysgenesis in humans. In the current study, a family with autosomal dominant posterior polar cataract (PPC) and a PITX3 mutation that cosegregates... | Chromosomes, Human, Pair 10; Homozygote; Lod Score | 2006 |
52 |
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Olson, Randall J. | Clinical comparison of single-piece and three-piece truncated hydrophobic acrylic intraocular lenses | PURPOSE: To determine the clinical differences between three-piece (3P) and single-piece (SP) truncated hydrophobic acrylic intraocular lenses (IOL). DESIGN: Retrospective cohort clinical study. METHODS: The setting was an academic clinical practice. The patient population consisted of subjects with... | Lenses, Intraocular; Patient Satisfaction; Postoperative Complications; Prosthesis Design; Visual Acuity | 2003-10 |
53 |
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Baehr, Wolfgang | Light-dependent redistribution of visual arrestins and transducin subunits in mice with defective phototransduction | PURPOSE: The light-dependent redistribution of phototransduction components in photoreceptor cells plays a role in light adaptation. Upon illumination, rod and cone arrestins (Arr and cArr) translocate from the inner to the outer segments while transducin subunits (Talpha, Tbetagamma) translocate in... | Phototransduction; Protein Kinases; Rhodopsin Kinase | 2003 |
54 |
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Baehr, Wolfgang | Lecithin-retinol acyltransferase is essential for accumulation of all-trans-retinyl esters in the eye and in the liver | Lecithin-retinol acyltransferase (LRAT), an enzyme present mainly in the retinal pigmented epithelial cells and liver, converts all-trans-retinol into all-trans-retinyl esters. In the retinal pigmented epithelium, LRAT plays a key role in the retinoid cycle, a two-cell recycling system that replenis... | Antibodies, Monoclonal; Chromatography, High Pressure Liquid; Microscopy, Fluorescence | 2004 |
55 |
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Olson, Randall J. | Clinical experience with 21-gauge manual microphacoemulsification using Sovereign WhiteStar Technology in eyes with dense cataract | PURPOSE: To present a series of patients who had 21-gauge microphacoemulsification using Sovereign WhiteStar technology. SETTING: John A. Moran Eye Center, University of Utah School of Medicine, Salt Lake City, Utah, USA. METHODS: Eighteen consecutive patients with cataracts judged to be 3+ or 4+ on... | Cataract; Microsurgery; Phacoemulsification; Postoperative Complications; Visual Acuity | 2004-01 |
56 |
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Olson, Randall J. | Effect of lens edge design versus anterior capsule overlap on posterior capsule opacification | PURPOSE: To determine whether lens edge design or anterior capsule overlap on the intraocular lens (IOL) has greater effect on posterior capsule opacification (PCO). DESIGN: Retrospective cohort clinical study. METHODS: Retrospective. SETTING: Academic clinical practice. PATIENT POPULATION: The pati... | Posterior Capsular Opacification' Intraocular Lens; Anterior Capsular Opacification; Acrylic Lenses; Silicone Lenses | 2004-10 |
57 |
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Normann, Richard A. | Control of retinal sensitivity. I. Light and dark adaptation of vertebrate rods and cones | Rods and cones in Necturus respond with graded hyperpolarization to test flashes spanning about 3.5 log units of intensity. Steady background levels hyperpolarize the rods, and the rod responses become progressively smaller as background level is increased. In cones, higher background levels reduce... | Retina;Light and Dark Adaptation; Recepters; Bipolars; Ganglion Cells | 1974 |
58 |
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Digre, Kathleen B.; Couldwell, William T.; Amini, Amin | Photophobia 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 Pathway | 2006-12-14 |
59 |
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Warner, Judith E. A. | Intermittent reversal of Complete Ptosis-EganWarner | CASE REPORT: Ptosis secondary to dense oculomotor pareses generally improves over several months, but intermittent elevation of the eyelid has not been reported. The Author's describe two patients who demonstrated intermittent involuntary monocular eyelid elevation in an eye with complete ptosis cau... | Eyelids; Ophthalmoplegia; Intraoperative Complications | 2006 |
60 |
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Baehr, Wolfgang | Cloning and molecular characterization of cGMP-gated ion channels from rod and cone photoreceptors of striped bass ( M. saxatilis ) retina | Vertebrate photoreceptors respond to light with changes in membrane conductance that reflect the activity of cyclic-nucleotide gated channels (CNG channels). The functional features of these channels differ in rods and cones; to understand the basis of these differences we cloned CNG channels from t... | Amino Acid Sequence; Computational Biology; Reverse Transcriptase Polymerase Chain Reaction | 2006 |
61 |
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Zhang, Kang | Molecular and developmental characterization of the heat shock cognate 4 gene of Drosophila melanogaster | The Drosophila heat shock cognate gene 4 (hsc4), a member of the hsp70 gene family, encodes an abundant protein, hsc70, that is more similar to the constitutively expressed human protein than the Drosophila heat-inducible hsp70. Developmental expression revealed that hsc4 transcripts are enriched in... | Embryo, Nonmammalian; Molecular Sequence Data | 1990 |
62 |
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Baehr, Wolfgang | Retinoid absorption and storage is impaired in mice lacking lecithin:retinol acyltransferase (LRAT) | Lecithin:retinol acyltransferase (LRAT) is believed to be the predominant if not the sole enzyme in the body responsible for the physiologic esterification of retinol. We have studied Lrat-deficient (Lrat-/-) mice to gain a better understanding of how these mice take up and store dietary retinoids a... | Chromatography, High Pressure Liquid; Mice, Transgenic; Tissue Distribution | 2005 |
63 |
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Baehr, Wolfgang; Zhang, Kang | Elovl4 mRNA distribution in the developing mouse retina and phylogenetic conservation of Elovl4 genes | PURPOSE: Stargardt-like macular dystrophy (STGD3) is an autosomal dominant form of early onset macular degeneration. The disease causing gene ELOVL4 encodes a protein that belongs to a family of proteins functioning in elongation of long chain fatty acids. The purpose of this study is to characteriz... | Amino Acid Sequence; Cloning, Molecular; Molecular Sequence Data | 2003 |
64 |
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Crockett, David K. | Utility of gene-specific algorithms for predicting pathogenicity of uncertain gene variants | The rapid advance of gene sequencing technologies has produced an unprecedented rate of discovery for genome variation in humans. A growing numbered of authoritative clinical repositories archive gene variants and disease phenotype, yet there are currently many more gene variants that lack clear ann... | | 2012 |
65 |
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Baehr, Wolfgang | Novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration | PURPOSE: 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; Electroretinography | 2004 |
66 |
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Baehr, Wolfgang | Receptors for advanced glycation end products as progressive factors in age-related macular degeneration | Advanced 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; RAGE | 2004 |
67 |
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Bernstein, Paul S.; Gellermann, Werner | Raman detection of macular carotenoid pigments in intact human retina | PURPOSE: 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; Xanthophylls | 1998 |
68 |
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Zhang, Kang | Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy | Mutations 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; FEVR | 2004 |
69 |
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Digre, Kathleen B. | Serum vitamin A concentration is elevated in idiopathic intracranial hypertension. | OBJECTIVE: The primary purpose was to investigate whether serum vitamin A concentration is associated with idiopathic intracranial hypertension (IIH). The secondary aim was to obtain pilot data regarding the amount of vitamin A ingested by patients and controls. BACKGROUND: Vitamin A is an attractiv... | Vitamin A; Retinol; Idiopathic intracranial hypertension; Chromatography | 2007-02-01 |
70 |
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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; Epidemiology | 1992-01 |
71 |
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Baehr, Wolfgang | Isolation and characterization of cGMP phosphodiesterase from bovine rod outer segments | A simple purification method has been developed for isolation of bovine cGMP phosphodiesterase from photoreceptor rod outer segments. The enzyme is peripherally membrane bound in its native state and is present in relatively high concentrations. In the bovine photoreceptors its molar ratio to rhodop... | Enzyme Activation; Macromolecular Substances; Trypsin/pharmacology | 1979 |
72 |
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Normann, Richard A. | Functional reorganization of primary visual cortex induced by electrical stimulation in the cat. | Compared to the high degree of plasticity observed in a juvenile, mature sensory cortices have long been held to be immutable but, recently, researchers have suggested some plasticity persists in the mature cortex. Cortical reorganization has particular saliency to the development of a cortically ba... | Cat; Electrophysiology; Phosphene; Plasticity; Receptive Field; Striate Cortex | 2005 |
73 |
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Baehr, Wolfgang | Pharmacological and rAAV gene therapy rescue of visual functions in a blind mouse model of Leber congenital amaurosis | BACKGROUND: Leber congenital amaurosis (LCA), a heterogeneous early-onset retinal dystrophy, accounts for approximately 15% of inherited congenital blindness. One cause of LCA is loss of the enzyme lecithin:retinol acyl transferase (LRAT), which is required for regeneration of the visual photopigmen... | Disease Models, Animal; Genetic Vectors; Molecular Sequence Data | 2005 |
74 |
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Kriesel, John D.; Spruance, Spotswood L. | Rocky Mountain spotted fever following cardiac transplantation. | ROCKY MOUNTAIN SPOTTED FEVER was first recognized in the early 1 900s in the Snake River Valley of Idaho and the Bitterroot Valley of western Montana.t In 1909, Howard Taylor Ricketts established the ixodid tick as the vector for the disease.2 Following the tick bite, the incubation period aver... | Male; Adult; Humans | 1993 |
75 |
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Normann, Richard A.; Shoham, Shy | Encoding mechanisms for sensory neurons studied with a multielectrode array in the cat dorsal root ganglion | Recent advances in microelectrode array technology now permit a direct examination of the way populations of sensory neurons encode information about a limb's position in space. To address this issue, we recorded nerve impulses from about 100 single units simultaneously in the L6 and L7 dorsal root ... | Sensory; Encoding; Multielectrode; Dorsal Root Ganglion; Cutaneour; Muscle | 2004 |