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      • Prenatal Diagnosis of Mucolipidosis Type II: Comparison of Biochemical and Molecular Analyses

        Kosuga, Motomichi,Okada, Michiyo,Migita, Osuke,Tanaka, Toju,Sago, Haruhiko,Okuyama, Torayuki Association for Research of MPS and Rare Diseases 2016 Journal of mucopolysaccharidosis and rare disease Vol.2 No.1

        Purpose: Mucolipidosis type II (ML II), also known as I-cell disease is an autosomal recessive inherited disorder of lysosomal enzyme transport caused by a deficiency of the uridine diphosphate (UDP)-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase). Clinical manifestations are skeletal abnormalities, mental retardation, cardiac disease, and respiratory complications. A severely and rapidity progressive clinical course leads to death before 10 years of age. Methods/Results: In this study we diagnosed three cases of prenatal ML II in two different at-risk families. We compared two procedures -biochemical analysis and molecular analysis - for the prenatal diagnosis of ML II. Both methods require an invasive procedure to obtain specimens for the diagnosis. Biochemical analysis requires obtaining cell cultures from amniotic fluid for more than two weeks, and would result in a late diagnosis at 19 to 22 weeks of gestation. Molecular genetic testing by direct sequence analysis is usually possible when mutations are confirmed in the proband. Molecular analysis has an advantage in that it can be performed during the first-trimester. Conclusion: Molecular diagnosis is a preferable method when a prompt decision is necessary.

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        Bio- nano-technology for cellular biosensing

        Tetsuya Haruyama,Hitoshi Asakawa,Satoshi Migita,Shinya Ikeno 한국물리학회 2005 Current Applied Physics Vol.5 No.2

        Cells and tissues transmit various chemical and physical signals. These are response to an extracellular stimulus. All the cellular responses include molecular information as for intracellular biological processes. However, most of cellular signals are very weak and not easily detected with conventional analytical methods. In order to detect cellular signals, two types of tactics to monitor cellular signal under cell culture condition has been studied. First one is the molecular designing of ‘‘polymer metal polymer (PMP) complex’’ as molecular transducer for cellular nitric oxide sensor. The PMP complex is designed and synthesized on the basis of novel ideas on molecular designing. The PMP complex possesses both specific catalytic function and molecular transduceability. The multiproperties are given by peculiar coordinative self-assembled structure that is composed with two (or more) different polymers and metal ion(s). In the present case, PMP complex is designed for cellular NO detection. The PMP complex coated electrode can determine NO concentration from 100 nM to 100 mM in aqueous solution by amperometric measurement. Next one is a genetical construction of postsynapse model cell for an evaluation of extracellular neural transmitter. Postsynaptic function is presented by channel gate receptor on postsynaptic membrane. In the present study, cloned glutamic acid channel gate receptor (GluR-D) gene is transformed into insect cell Sf-9. Sf-9 is easy to cultivate and is able to express GluR-D on its cell surface as same as postsynaptic membrane. Its function can be monitored by outer cell potential. Both of tactics is successfully performed and is applicatable cultured cell-based assay on harmaceutical screening and chemical safety proofing. .

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        Evaluation of 131I (monoiodide) BSP for Clinical Studies

        Ueda, Hideo,Iro, Masahiro,Kurata, Kunio,Yamada, Hideo,Iwase, Tohru,Migita, Tohru,Kameda, Haruo,Kato, Sadatake,Sato, Noboru,Ide, Kazuko,Wakebayashi, Takao 대한핵의학회 1971 핵의학 분자영상 Vol.5 No.1

        "In 1925 Rosenthal and White introduced a bromosulfophthalein (BSP) dye retention test as a sensitive indicator of liver function. Even now it is regared as one of the most sensitive agents for the detection of non-icteric liver disease (liver cirrhosis, early stage of acute-hepatitis and hepatic tumor). BSP accumulates in the liver cells, conjugates with glutathione and is excreted into the bile. Therefore, a disorder in its excretion is due to a disturbance of one of these processes. Since bilirubin and BSP compete for uptake by the liver and increased serum bilirubin interferes with the colorimetric determination of BSP, it has been considered that BSP test is inappropriate for the differential diagnosis of jaundice conditions. It has been generally said that when jaundice is present, the BSP test is useless and should not be performed. In 1955, Taplin et al. labeled rose bengal, a dye similarly metabolized in the liver as BSP, with 131I and measured the hepatic excretion of this dye by external monitoring. Laster, Blahd et al. applied this method to the determination of the peripheral pool, succeeding in the diagnosis of chronic and subacute hepatic diseases without colorimetry. In 1968, Yamada, Taplin et al. suggested the possibility of differentiating so-called medical jaundice from surgical jaundice by scanning the subjects during 24 to 48 hours following intravenous injection of 131I-labeled rose bengal. As mentioned before, many authorities hold the opinion that BSP is not proper for the differential diagnosis of jaundice states. Some have tried to diagnose biliary tract obstruction by a malignant tumor by measuring BSP excretion into duodenal fluid and others by quantitating changes in serum levels of conjugated and free BSP. Furthermore, Burton et al. reported that in patients with extrahepatic obstructive jaundice, BSP retention was observed for 24 days after its administration. From a consideration of all these finding we came to a conclusion that the differential diagnosis of various jaundice states, (medical, surgical and constitutional) is possible by sequential scanning with radioisotope-labeled BSP, as with rose bengal, in accordance with procedures described by Yamada, Taplin et al. The evidence suggested that labeled BSP might make a more important contribution than rose bengal. "

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