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| Creator | Title | Description | Subject | Date | ||
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Baehr, Wolfgang; Katz, Bradley J.; Creel, Donnell J.; Zhang, Kang | Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A) | PURPOSE: To describe the clinical features and genetic analysis of a family with an autosomal dominant cone dystrophy (adCD). METHODS: Selected members of a family with an autosomal dominant cone dystrophy underwent ophthalmic evaluation. Blood samples were obtained, genomic DNA was isolated, and ge... | Mutation, Missense; DNA Mutational Analysis; Electroretinography | 2005 |
| 2 |
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Bernstein, Paul S.; Zabriskie, Norman A.; Zhang, Kang | CFH Y402H Confers similar risk of soft Drusen and both forms of advanced AMD | BACKGROUND: Age-related macular degeneration (AMD) is the most common cause of irreversible visual impairment in the developed world. The two forms of advanced AMD, geographic atrophy and neovascular AMD, represent different pathological processes in the macula that lead to loss of central vision. S... | 2005 | |
| 3 |
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Baehr, Wolfgang | Evaluation of the 17 kda prenyl binding protein as a regulatory protein for phototransduction in retinal photoreceptors | The mammalian rod photoreceptor phosphodiesterase (PDE6) holoenzyme is isolated in both a membrane-associated and a soluble form. Membrane binding is a consequence of prenylation of PDE6 catalytic subunits, whereas soluble PDE6 is purified with a 17-kDa prenyl-binding protein (PDEdelta) tightly boun... | Amino Acid Sequence; Immunohistochemistry; Phosphoric Diester Hydrolases | 2005 |
| 4 |
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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 |
| 5 |
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Zhang, Kang | Loss of ER retention and sequestration of the wild-type ELOVL4 by Stargardt disease dominant negative mutants | PURPOSE: 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 Chaperones | 2005 |
| 6 |
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Baehr, Wolfgang | Metabolism and transactivation activity of 13,14-dihydroretinoic acid | The metabolism of vitamin A is a highly regulated process that generates essential mediators involved in the development, cellular differentiation, immunity, and vision of vertebrates. Retinol saturase converts all-trans-retinol to all-trans-13,14-dihydroretinol (Moise, A. R., Kuksa, V., Imanishi, Y... | Chromatography, High Pressure Liquid; Electrophoresis, Polyacrylamide Gel; Retinoid X Receptors | 2005 |
| 7 |
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Baehr, Wolfgang | Novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD) | PURPOSE: To elucidate the phenotypic and biochemical characteristics of a novel mutation associated with autosomal dominant cone-rod dystrophy (adCORD). METHODS: Twenty-three family members of a CORD pedigree underwent clinical examinations, including visual acuity tests, standardized full-field ERG... | Polymorphism, Single-Stranded Conformational; Guanylate Cyclase-Activating Proteins; DNA Mutational Analysis | 2005 |
| 8 |
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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 |
| 9 |
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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 |
| 10 |
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Baehr, Wolfgang | Role of photoreceptor-specific retinol dehyrogenase (prRDH) in the retinoid cycle in vivo | The retinoid cycle is a recycling system that replenishes the 11-cis-retinal chromophore of rhodopsin and cone pigments. Photoreceptor-specific retinol dehydrogenase (prRDH) catalyzes reduction of all-trans-retinal to all-trans-retinol and is thought to be a key enzyme in the retinoid cycle. We d... | Rhodopsin, Photoreceptors; prRDH (RDH8); All-trans-RDH; A2E; Retinoid cycle; Dark adaptation | 2005 |
| 11 |
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Normann, Richard A. | Statistical encoding model for a primary motor cortical brain-computer interface | A number of studies of the motor system suggest that the majority of primary motor cortical neurons represent simple movement-related kinematic and dynamic quantities in their time-varying activity patterns. An example of such an encoding relationship is the cosine tuning of firing rate with respect... | Discrete Distribution; LN Model; Neural Decoding; Neuroprosthetics; Sequential Monte-Carlo Filter | 2005 |
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