UScholar Works
 
Filters: Publisher: "Molecular Vision" Collection: "ir_uspace"
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CreatorTitleDescriptionSubjectDate
1 Baehr, Wolfgang; Katz, Bradley J.; Creel, Donnell J.; Zhang, KangAutosomal 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; Electroretinography2005
2 Baehr, Wolfgang; Zhang, KangCharacterization of human GRK7 as a potential cone opsin kinasePURPOSE: Homozygous inactivation of the mouse gene for GRK1 (G protein-coupled receptor kinase 1, or rhodopsin kinase) causes severe defects in the recovery of cone phototransduction. However, electroretinographic (ERG) analyses of human oguchi patients with defective GRK1 alleles showed normal or s...Amino Acid Sequence; Chromosomes, Human, Pair 3; Fluorescent Antibody Technique, Indirect2001
3 Baehr, WolfgangCharacterization of the chicken GCAP gene array and analyses of GCAP1, GCAP2, and GC1 gene expression in normal and rd chicken pinealPURPOSE: This study had three objectives: (1) to characterize the structures of the chicken GCAP1 and GCAP2 genes; (2) to determine if GCAP1, GCAP2, and GC1 genes are expressed in chicken pineal gland; (3) if GC1 is expressed in chicken pineal, to determine if the GC1 null mutation carried by the re...Molecular Sequence Data; Promoter Regions (Genetics); Retinal Degeneration1999
4 Baehr, Wolfgang; Zhang, KangElovl4 mRNA distribution in the developing mouse retina and phylogenetic conservation of Elovl4 genesPURPOSE: 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 Data2003
5 Zhang, KangExpression of wild type and mutant ELOVL4 in cell culture: subcellular localization and cell viabilityPURPOSE: ELOVL4 is a member of the fatty acid elongase (ELO) family of genes. Mutations of this gene are responsible for autosomal dominant Stargardt-like macular degeneration. However, the specific role of ELOVL4 in photoreceptor cells and the mechanism by which mutations in ELOVL4 causes macular d...Endoplasmic Reticulum; Green Fluorescent Proteins; Microscopy, Fluorescence2004
6 Baehr, Wolfgang; Thulin, CraigImmunolocalization and divergent roles of phosducin and phosducin-like protein in the retinaPURPOSE: These investigations were undertaken to compare and contrast the roles of phosducin and phosducin-like protein in the retina. METHODS: Phosducin and phosducin-like protein were compared in an in vitro assay measuring their inhibition of transducin binding to light-activated rhodopsin. The t...Antibody Specificity; Protein Binding; Rod Outer Segments1999
7 Baehr, WolfgangLight-dependent redistribution of visual arrestins and transducin subunits in mice with defective phototransductionPURPOSE: 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 Kinase2003
8 Zhang, KangLoss of ER retention and sequestration of the wild-type ELOVL4 by Stargardt disease dominant negative mutantsPURPOSE: 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 Chaperones2005
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