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Filters: Department: "Neurobiology & Anatomy" Collection: "ir_uspace"
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1 Moon, Ann M.; Capecchi, Mario R.Fgf8 is required for outgrowth and patterning of the limbs.The expression pattern and activity of fibroblast growth factor-8 (FGF8) in experimental assays indicate that it has important roles in limb development, but early embryonic lethality resulting from mutation of Fgf8 in the germ line of mice has prevented direct assessment of these roles. Here we rep...Animals; Body Patterning; Bone Morphogenetic Proteins; Ectoderm2000-12-26
2 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
3 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
4 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
5 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
6 Moon, Ann M.; Capecchi, Mario R.Roles of Fgf4 and Fgf8 in limb bud initiation and outgrowth.Although numerous molecules required for limb bud formation have recently been identified, the molecular pathways that initiate this process and ensure that limb formation occurs at specific axial positions have yet to be fully elucidated. Based on experiments in the chick, Fgf8 expression in the in...Animals; Apoptosis; Forelimb; Gene Expression Regulation, Developmental; High Mobility Group Proteins; Hindlimb; In Situ Hybridization; Mesoderm; Mice, Mutant Strains; Trans-Activators2004-09
7 Levine, Edward M.Sonic hedgehog promotes rod photoreceptor differentiation in mammalian retinal cells in vitro.The hedgehog gene family encodes secreted proteins important in many developmental patterning events in both vertebrates and invertebrates. In the Drosophila eye disk, hedgehog controls the progression of photoreceptor differentiation in the morphogenetic furrow. To investigate whether hedgehog prot...Sonic hedgehog; Indian hedgehog; Desert hedgehog; Retina; Mitogenesis; Differentiation; Rod Photoreceptor1997-08-15
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