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| Creator | Title | Description | Subject | Date | ||
|---|---|---|---|---|---|---|
| 1 |
 | Fuhrmann, Sabine | Expression 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; cytology | 2004 |
| 2 |
 | 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 |
| 3 |
 | Zhang, Kang | Novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy | PURPOSE. To conduct clinical and genetic studies in a European family with autosomal dominant Stargardt-like macular dystrophy (adSTGD-like MD) and to investigate the functional consequences of a novel ELOVL4 mutation | Macular dystrophy; ELOVL4 mutation; Genetics | 2004 |
| 4 |
 | Frederick, Jeanne M.; Baehr, Wolfgang | Receptor for advanced glycation end products and 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 present... | Optic Atrophies, Hereditary; Apoptosis; Pigment Epithelium of Eye | 2004 |
| 5 |
 | 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 |
| 6 |
 | 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 |
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