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CreatorTitleDescriptionSubjectDate
126 Jones, Bryan W.; Jones, Christopher R.; Czajkowski, LauraFamilial advanced sleep-phase syndrome: a short-period circadian rhythmvariant in humansBiological circadian clocks oscillate with an approximately 24-hour period, are ubiquitous, and presumably confer a selective advantage by anticipating the transitions between day and night. The circadian rhythms of sleep, melatonin secretion and body core temperature are thought to be generated by ...Activity Cycles; Matched-Pair Analysis; Polysomnography1999
127 Olson, Randall J.; Samore, Matthew H.; Pace, Nathan L.Dysphotopsia in phakic and pseudophakic patients: incidence and relation to intraocular lens type(2)PURPOSE: To determine the relationship between various intraocular lens (IOL) types and the incidence of unwanted light images. SETTING: The Moran Eye Center, University of Utah, Salt Lake City, Utah, USA. METHODS: A telephone questionnaire was administered to 302 postoperative patients who had rece...Cataract Extraction; Visual Acuity; Lenses, Intraocular; Lens Implantation, Intraocular2000-06
128 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
129 Baehr, Wolfgang; Rao, Narayanam V.Molecular characterization of a third member of the guanylyl cyclase-activating protein subfamilyThe mammalian retina contains at least two guanylyl cyclases (GC1 and GC2) and two guanylyl cyclase-activating proteins (GCAP1 and GCAP2). Here we present evidence of the presence of a new photoreceptor-specific GCAP, termed GCAP3, which is closely related to GCAP1. The sequence similarity of GCAP3 ...Amino Acid Sequence; Cloning, Molecular; Gene Expression Regulation1999
130 Normann, Richard A.; Shoham, ShyEncoding mechanisms for sensory neurons studied with a multielectrode array in the cat dorsal root ganglionRecent 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; Muscle2004
131 Baehr, WolfgangRetinoid 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 Distribution2005
132 Zhang, KangIdentification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy2001
133 Angelucci, AlessandraExperimentally induced retinal projections to the ferret auditory thalamus: development of clustered eye-specific patterns in a novel targetWe have examined the relative role of afferents and targets in pattern formation using a novel preparation, in which retinal projections in ferrets are induced to innervate the medial geniculate nucleus (MGN). We find that retinal projections to the MGN are arranged in scattered clusters. Clusters a...Retina; Ferrets1997
134 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
135 Fu, YingbinMechanism of reductive activation of potato tuber ADP-glucose pyrophosphorylase.The potato tuber (Solanum tuberosum L.) ADP-glucose pyrophosphorylase activity is activated by a incubation with ADP-glucose and dithiothreitol or by ATP, glucose- 1-phosphate, Ca2+, and dithiothreitol. The activation was accompanied by the appearance of new sulfhydryl groups as determined with 5, 5...Glucosephosphates; Enzyme Activation; Adenosine Triphosphate1998
136 Zhang, KangHeterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalitiesPURPOSE: 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 Score2006
137 Olson, Randall J.Clinical comparison of single-piece and three-piece truncated hydrophobic acrylic intraocular lensesPURPOSE: 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 Acuity2003-10
138 Digre, Kathleen B.; Mamalis, Nick; White, George L. Jr.Congenital anomalies of the optic nerve in one family.We present three cases of congenital optic disc anomalies in one family who underwent an extensive diagnostic workup to exclude any intracranial pathology. One patient had elevated optic nerve heads and was hospitalized for multiple diagnostic tests including a lumbar puncture and magnetic resonance...Optic Nerve; Congenital Anomalies1992-04-24
139 Gouw, Launce G.; McKenna, Catherine K.; Digre, Kathleen B.; Placek, Louis J.Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.The gene for spinocerebellar ataxia 7 (SCA7) includes a transcribed, translated CAG tract that is expanded in SCA7 patients. We have determined expansions in 73 individuals from 17 SCA7 kindreds and compared them with repeat lengths of 180 unaffected individuals. Subjects with abnormal expansions co...Genetics; Biosynthesis; SCA7 Gene1998-03-07
140 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
141 Normann, Richard A.Control of retinal sensitivity. I. Light and dark adaptation of vertebrate rods and conesRods 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 Cells1974
142 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
143 Warner, Judith E. A.Intermittent reversal of Complete Ptosis-EganWarnerCASE 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 Complications2006
144 Baehr, WolfgangCloning and molecular characterization of cGMP-gated ion channels from rod and cone photoreceptors of striped bass ( M. saxatilis ) retinaVertebrate 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 Reaction2006
145 Zhang, KangMolecular and developmental characterization of the heat shock cognate 4 gene of Drosophila melanogasterThe 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 Data1990
146 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
147 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
148 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
149 Digre, Kathleen B.; Blumenthal, Deborah T.; Salzman, Karen L.; Jensen, Randy L.; Dunson, William A.Early pathologic findings and long-term improvement in anti-Ma2-associated encephalitis.A 67-year-old man sequentially developed anti-Ma2-associated paraneoplastic encephalitis (PNE) and contralateral herpes simplex encephalitis (HSE). Brain biopsy 1 month before HSE revealed extensive infiltrates of T cells, B cells, and plasma cells. Most T cells expressed the cytotoxic granule-assoc...Paraneoplastic neurologic disorders; Encephalitis; Neoplasm;Herpes Simplex2006-07-11
150 Digre, Kathleen B.Not so benign intracranial hypertension.Despite many controversies, intracranial hypertension due to use of doxycycline does occur. Practitioners prescribing the tetracyclic antibiotics should be aware of the syndrome of increased intracranial pressure, and pay particular attention to the ocular fundus for papilloedema. Appropriate referr...Venous Occusion; Venous Hypertension; Tetracycline, Doxycycline; Minocycline2003-03-22
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