1,726 research outputs found

    Acid Sphingomyelinase Regulates the Localization and Trafficking of Palmitoylated Proteins

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    In human, loss of Acid Sphingomeylinase (ASM/SMPD1) causes Niemann-Pick Disease, type A. ASM hydrolyzes sphingomyelins to produce ceramides but protein targets of ASM remain largely unclear. ... See full text for complete abstract

    3510-V 390-m Omega . cm(2) 4H-SiC Lateral JFET on a Semi-Insulating Substrate

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    The performance of high-voltage 4H-SiC lateral JFETs on a semi-insulating substrate is reported in this letter. The design of the voltage-supporting layers is based on the charge compensation of p- and n-type epilayers. The best measured breakdown voltage is 3510 V, which, to the authors\u27 knowledge, is the highest value ever reported for SiC lateral switching devices. The R-on of this device is 390 m Omega . cm(2), in which 61% is due to the drift-region resistance. The BV2/R-on is 32 MW/cm(2), which is typical among other reported SiC lateral devices

    Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations

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    <p>Abstract</p> <p>Background</p> <p>Beta-thalassemia is a common autosomal recessive hereditary disease in the Meditertanean, Asia and African areas. Over 600 mutations have been described in the beta-globin (<it>HBB</it>), of which more than 200 are associated with a beta-thalassemia phenotype.</p> <p>Results</p> <p>We used two highly-specific mutation screening methods, mismatch-specific endonuclease and denaturing high-performance liquid chromatography, to identify mutations in the <it>HBB </it>gene. The sensitivity and specificity of these two methods were compared. We successfully distinguished mutations in the <it>HBB </it>gene by the mismatch-specific endonuclease method without need for further assay. This technique had 100% sensitivity and specificity for the study sample.</p> <p>Conclusion</p> <p>Compared to the DHPLC approach, the mismatch-specific endonuclease method allows mutational screening of a large number of samples because of its speed, sensitivity and adaptability to semi-automated systems. These findings demonstrate the feasibility of using the mismatch-specific endonuclease method as a tool for mutation screening.</p

    Right Colonic Diverticulitis

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    Although right colonic diverticultis (RCD) has been reported to be a rare disease in Western countries, RCD is a common diagnosis, with an incidence per 2.9-17 case of appendicitis, in Korea. Many Western studies have reported that it is difficult to differentiate the presenting symptoms of RCD from those of appendicitis before surgery because the signs and symptoms are similar. However, performing a computed tomography scan after the application of the diagnostic criteria for RCD has increased the preoperative RCD diagnostic rate. Treatment strategies have been difficult to define for this condition due to its low preoperative diagnosis rate. However, recent reports have shown that conservative medical treatment of uncomplicated RCD can be recommended and that such treatment is effective due to the benign and self-limited natural history of RCD. Therefore, in this review, we discuss the controversies surrounding RCD management

    All-trans retinoic acid ameliorates glycemic control in diabetic mice via modulating pancreatic islet production of vascular endothelial growth factor-A.

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    Patients with type 1 diabetes mellitus are associated with impairment in vitamin A metabolism. This study evaluated whether treatment with retinoic acid, the biologically active metabolite of vitamin A, can ameliorate diabetes. All-trans retinoic acid (atRA) was used to treat streptozotocin (STZ)-induced diabetic mice which revealed atRA administration ameliorated blood glucose levels of diabetic mice. This hyperglycemic amelioration was accompanied by an increase in the amount of β cells co-expressed Pdx1 and insulin and by restoration of the vascular laminin expression. The atRA-induced production of vascular endothelial growth factor-A from the pancreatic islets was possibly the key factor that mediated the restoration of islet vascularity and recovery of β-cell mass. Furthermore, the combination of islet transplantation and atRA administration significantly rescued hyperglycemia in diabetic mice. These findings suggest that vitamin A derivatives can potentially be used as a supplementary treatment to improve diabetes management and glycemic control

    TPMD: a database and resources of microsatellite marker genotyped in Taiwanese populations

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    Taiwan Polymorphic Marker Database (TPMD) (http://tpmd.nhri.org.tw/) is a marker database designed to provide experimental details and useful marker information allelotyped in Taiwanese populations accompanied by resources and technical supports. The current version deposited more than 372 000 allelotyping data from 1425 frequently used and fluorescent-labeled microsatellite markers with variation types of dinucleotide, trinucleotide and tetranucleotide. TPMD contains text and map displays with searchable and retrievable options for marker names, chromosomal location in various human genome maps and marker heterozygosity in populations of Taiwanese, Japanese and Caucasian. The integration of marker information in map display is useful for the selection of high heterozygosity and commonly used microsatellite markers to refine mapping of diseases locus followed by identification of disease gene by positional candidate cloning. In addition, our results indicated that the number of markers with heterozygosity over 0.7 in Asian populations is lower than that in Caucasian. To increase accuracy and facilitate genetic studies using microsatellite markers, we also list markers with genotyping difficulty due to ambiguity of allele calling and recommend an optimal set of microsatellite markers for genotyping in Taiwanese, and possible extension of genotyping in other Mongoloid populations
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