Visual Deficient
Mostrando 25-36 de 37 artigos, teses e dissertações.
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25. Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobilities of some enzymes known to be glycoproteins. 1. Clinical findings.
A family is described with three affected brothers, two of whom were examined, born to consanguineous parent, who in early adult life began to experience ataxia, intention myoclonus, and progressive visual failure. The brothers examined had cherry red spots at the maculae and cataracts. They were of normal intelligence. The intention myoclonus responded part
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26. The activated partial thromboplastin time of diluted plasma: variability due to the method of fibrin detection.
The purpose of this study was to determine the effects of the dilution of plasma (1/3 in saline) on the kinetics of fibrin generation in the activated partial thromboplastin time (APTT) assay. The diluted APTT is considered to increase the sensitivity of the APTT test however, studies in our laboratory using an electro-optical fibrin detection system failed
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27. Dynamic characteristics of optokinetically controlled eye movements following inferior olive lesions in the brown rat.
1. The inferior olive was destroyed by the drug 3-acetylpyridine in brown rats. Spontaneous and optokinetic eye movements in response to constant-velocity rotation (5-80 deg/s) or sinusoidal oscillations (0.05 and 0.1 Hz with 15 deg/s peak velocity and 0.3, 0.5, 1.0 and 2 Hz with 5 deg/s peak velocity) of the visual surround were recorded 4-6 days, 40-50 day
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28. Demonstration of low density lipoprotein receptors in mouse teratocarcinoma stem cells and description of a method for producing receptor-deficient mutant mice
Familial hypercholesterolemia, a widespread human genetic disorder implicated in vascular and coronary disease, has had no laboratory animal counterpart that would enable the pathogenesis to be analyzed and drugs to be tested in vivo. The primary lesion in some patients is known to occur in the cells' initial handling of the major cholesterol-carrying lipopr
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29. A class B scavenger receptor mediates the cellular uptake of carotenoids in Drosophila
Carotenoids are currently being intensely investigated regarding their potential to lower the risk of chronic disease and vitamin A deficiency. Invertebrate models in which vitamin A deficiency is not lethal allow the isolation of blind but viable mutants affected in the pathway leading from dietary carotenoids to vitamin A. Using a mutant in one of these mo
National Academy of Sciences.
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30. A zebrafish model for pyruvate dehydrogenase deficiency: Rescue of neurological dysfunction and embryonic lethality using a ketogenic diet
Defects in the pyruvate dehydrogenase (PDH) complex result in severe neurological dysfunction, congenital lactic acidosis, growth retardation, and early death. Current treatments for PDH deficiency are administered postnatally and are generally unsuccessful. Because many patients with this disease are born with irreversible defects, a model system for the de
National Academy of Sciences.
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31. The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions
Usher syndrome type 1 (USH1) patients suffer from sensorineuronal deafness, vestibular dysfunction, and visual impairment. Several genetic loci have been linked to USH1, and four of the relevant genes have been identified. They encode the unconventional myosin VIIa, the PDZ-domain protein harmonin, and the putative adhesion receptors cadherin 23 (CDH23) and
National Academy of Sciences.
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32. Behavioral and sensory basis of courtship success in Drosophila melanogaster.
In Drosophila some individuals are more successful at mating than others. Reproductive fitness is strongly dependent upon the ability to recognize and compete for members of the opposite sex. Experiments were designed to answer two questions. (i) What behavioral components are characteristic or predictive of successful courtship? and (ii) How important is th
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33. Cell wall and DNA cosegregation in Bacillus subtilis studied by electron microscope autoradiography.
Cells of a Bacillus subtilis mutant deficient in both major autolytic enzyme activities were continuously labeled in either cell wall or DNA or both cell wall and DNA. After appropriate periods of chase in minimal as well as in rich medium, thin sections of cells were autoradiographed and examined by electron microscopy. The resolution of the method was adeq
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34. Deficient control of in vitro Epstein-Barr virus infection in patients with ankylosing spondylitis.
Infectious Epstein-Barr (EB) virus obtained from the B95-8 marmoset cell line was used to infect mononuclear cells from healthy controls and patients with rheumatoid arthritis (RA) and ankylosing spondylitis (AS), and outgrowth of B cells into lymphoblastoid cell lines was assessed by visual microscopy and uptake of tritiated thymidine over a 28 day period.
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35. Role of poly(ADP-ribosyl)ation in DNA-PKcs- independent V(D)J recombination
V(D)J recombination is critical to the generation of a functional immune system. Intrinsic to the assembly of antigen receptor genes is the formation of endogenous DNA double-strand breaks, which normally are excluded from the cellular surveillance machinery because of their sequestration in a synaptic complex and/or rapid resolution. In cells deficient in d
The National Academy of Sciences.
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36. TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells
The ON pathway of the visual system, which detects increases in light intensity, is established at the first retinal synapse between photoreceptors and ON-bipolar cells. Photoreceptors hyperpolarize in response to light and reduce the rate of glutamate release, which in turn causes the depolarization of ON-bipolar cells. This ON-bipolar cell response is medi
National Academy of Sciences.