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CreatorTitleDescriptionSubjectDate
1 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
2 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
3 Baehr, Wolfgang; Zhang, Kang; Kolb, HelgaGene array and expression of mouse retina guanylate cyclase activating proteins 1 and 2PURPOSE: To identify gene arrangement, chromosomal localization, and expression pattern of mouse guanylate cyclase activating proteins GCAP1 and GCAP2, retina-specific Ca2+-binding proteins, and photoreceptor guanylate cyclase activators. METHODS: The GCAP1 and GCAP2 genes were cloned from genomic l...Molecular Sequence Data; Guanylate Cyclase-Activating Proteins; In Situ Hybridization, Fluorescence1998
4 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
5 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
6 Bernstein, Paul S.HPLC measurement of ocular carotenoid levels in human donor eyes in the lutein supplementation era.PURPOSE: A substantial proportion of the population at risk for visual loss from age-related macular degeneration consumes supplements containing high doses of lutein, but clinical studies to date have shown only modest and variable increases in macular carotenoid pigments in response to supplementa...Chromatography, High Pressure Liquid; Dietary Supplements; Tissue Donors2007-02
7 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
8 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
9 Bernstein, Paul S.Identification of lutein and zeaxanthin oxidation products in human and monkey retinasPURPOSE: To characterize fully all the major and minor carotenoids and their metabolites in human retina and probe for the presence of the oxidative metabolites of lutein and zeaxanthin. METHODS: Carotenoids of a composite of 58 pairs of human retinas and a monkey retina were elucidated by comparing...Mass Spectrometry; Oxidation-Reduction; Spectrophotometry, Ultraviolet1997
10 Olson, Randall J.Mathematical description of causative factors and prevention of elevated intraocular pressure after keratoplastyIn keratoplasty with grafts the same size as the recipient bed, tight sutures and thick recipient corneal periphery distort the angle and may collapse the filtering meshwork. This can cause very high postoperative pressures, which can be avoided by the use of donor grafts larger than the recipient b...Keratoplasty; Trabecular Collapse; Angle Disrottion; Elevated Pressure; Aphakia; Mathematics1977-12
11 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
12 Frederick, Jeanne M.Neurotransmitter properties of the newborn human retina.Human retinal tissue from a newborn was examined autoradiographically for the presence of highaffinity uptake and localization of the following putative neurotransmitters: dopamine, glycine, GAB A, aspartate, and glutamate. In addition, the dopamine content of this newborn retina was measured by ...Newborn; Human Retina; Neurotransmitter Properties; Photoreceptors1983
13 Baehr, WolfgangNovel 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 Analysis2005
14 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
15 Zhang, KangNovel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophyPURPOSE. 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 mutationMacular dystrophy; ELOVL4 mutation; Genetics2004
16 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
17 Frederick, Jeanne M.; Baehr, WolfgangReceptor 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 Eye2004
18 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
19 Bernstein, Paul S.Retinal tubulin binds macular carotenoidsPURPOSE: To investigate the biochemical mechanisms responsible for the specific uptake, concentration, and stabilization of the carotenoids lutein and zeaxanthin in the macula. METHODS: Soluble extracts of bovine retina mixed with radioactive carotenoids were purified by hydrophobic interaction, ion...Chromatography, Gel; Electrophoresis; Xanthophylls1997
20 Olson, Randall J.; Coldwell, Karin D.; Compton, Bruce J.; Giddings, John C.Sedimentation field-flow fractionation: a method for studying particulates in cataractous lensIt is shown that the technique of sedimentation field-flow fractionation (sedimentation [sed] FFF) can be used to determine the particle content and particle size distribution of normal and cataractous lenses. A 31-year-old normal human lens, for example, showed a particle content of 1.5% by weight ...Fractionation; Cataractous Lens; Particulates1984
21 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
22 Bernstein, Paul S.Transformations of selected carotenoids in plasma, liver, and ocular tissues of humans and in nonprimate animal modelsPURPOSE: To determine the stereochemistry of carotenoids in human ocular tissues in comparison with plasma and liver and to elucidate the possible transformations of dietary (3R,3'R,6'R)-lutein and (3R,3'R)-zeaxanthin in the eye. Similarly, to characterize the carotenoid profiles in the eye tissues,...Chromatography, High Pressure Liquid; Stereoisomerism; Xanthophylls2002
23 Baehr, WolfgangTrilateral tumors in four different lines of transgenic mice expressing SV40 T-antigenPURPOSE. A line of transgenic mice containing the simian virus (SV) 40 T-antigen (T-ag) gene driven by the beta-luteinizing hormone (BLH) promoter developed bilateral retinoblastoma and primitive neuroectodermal tumors (PNET) of the midbrain. Midbrain tumors arose from the subependymal layer of the ...Mice, Transgenic; Retinol-Binding Proteins; Eye Proteins1996
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