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Identification of new SLE-associated genes with a two-step Bayesian study design
Armstrong, D L,Reiff, A,Myones, B L,Quismorio Jr, F P,Klein-Gitelman, M,McCurdy, D,Wagner-Weiner, L,Silverman, E,Ojwang, J O,Kaufman, K M,Kelly, J A,Merrill, J T,Harley, J B,Bae, S-C,Vyse, T J,Gilkeso Macmillan Publishers Limited 2009 GENES AND IMMUNITY Vol.10 No.5
In our earlier study, we utilized a Bayesian design to probe the association of ∼1000 genes (∼10 000 single-nucleotide polymorphisms (SNPs)) with systemic lupus erythematosus (SLE) on a moderate number of trios of parents and children with SLE. Two genes associated with SLE, with a multitest-corrected false discovery rate (FDR) of <0.05, were identified, and a number of noteworthy genes with FDR of <0.8 were also found, pointing out a future direction for the study. In this report, using a large population of controls and adult- or childhood-onset SLE cases, we have extended the earlier investigation to explore the SLE association of 10 of these noteworthy genes (109 SNPs). We have found that seven of these genes exhibit a significant (FDR<0.05) association with SLE, both confirming some genes that have earlier been found to be associated with SLE (PTPN22 and IRF5) and presenting novel findings of genes (KLRG1, interleukin-16, protein tyrosine phosphatase receptor type T, toll-like receptor (TLR)8 and CASP10), which have not been reported earlier. The results signify that the two-step candidate pathway design is an efficient way to study the genetic foundations of complex diseases. Furthermore, the novel genes identified in this study point to new directions in both the diagnosis and the eventual treatment of this debilitating disease.Genes and Immunity (2009) 10, 446–456; doi:10.1038/gene.2009.38; published online 14 May 2009
Jacob, Chaim O,Zhu, Jiankun,Armstrong, Don L,Yan, Mei,Han, Jie,Zhou, Xin J,Thomas, James A,Reiff, Andreas,Myones, Barry L,Ojwang, Joshua O,Kaufman, Kenneth M,Klein-Gitelman, Marisa,McCurdy, Deborah,Wa National Academy of Sciences 2009 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF Vol.106 No.15
<P>A combined forward and reverse genetic approach was undertaken to test the candidacy of IRAK1 (interleukin-1 receptor associated kinase-1) as an X chromosome-encoded risk factor for systemic lupus erythematosus (SLE). In studying approximately 5,000 subjects and healthy controls, 5 SNPs spanning the IRAK1 gene showed disease association (P values reaching 10(-10), odds ratio >1.5) in both adult- and childhood-onset SLE, in 4 different ethnic groups, with a 4 SNP haplotype (GGGG) being strongly associated with the disease. The functional role of IRAK1 was next examined by using congenic mouse models bearing the disease loci: Sle1 or Sle3. IRAK1 deficiency abrogated all lupus-associated phenotypes, including IgM and IgG autoantibodies, lymphocytic activation, and renal disease in both models. In addition, the absence of IRAK1 reversed the dendritic cell 'hyperactivity' associated with Sle3. Collectively, the forward genetic studies in human SLE and the mechanistic studies in mouse models establish IRAK1 as a disease gene in lupus, capable of modulating at least 2 key checkpoints in disease development. This demonstration of an X chromosome gene as a disease susceptibility factor in human SLE raises the possibility that the gender difference in SLE may in part be attributed to sex chromosome genes.</P>
朴冕用,李文壽,鄭求春 建國大學校附設 應用科學硏究所 1978 理學論集 Vol.4 No.-
An infra-red absorption which is characteristics to the novolac resin is occurred at 1,000 ??, and this peak is useful for the identification of novolac phenol resin from resolic phenol resin. The relative intensities of infra-red absorption peaks at 813.01 and 751.88 ?? of novolac and resolic phenol resin samples did not show the significant changes for 60 min. at 140℃ and 120℃, but they were changed as a function of heat-treated time from 60 min. thereafter.
朴冕用 建國大學校附設 應用科學硏究所 1977 理學論集 Vol.3 No.-
The studies on preparation procedures of solid supports for gas chromatographic column packing materials were carried out and obtained the best results by using diatomaceous earth produced at Kyung-Joo, Kyungbuk. Diatomaceous earth was found to be the most adequate material for solid supports among many possible substances such as firebricks and domestic natural ores-bentonite, acid clay, montmorillonite, kaolinite, etc. To obtain pink solid surpports, the natural diatomite ores were heated at 900℃for 6 hours, and then pulverized into 80-100 meshes. The particles were treated with concentrated hydrochloric acid and silane, and coated with 15% polyethylene glycol. This packing materials showed gas chromatogram tailing and asymmetrical to the polar compounds, but symmetrical without any tailing to non-poarl compounds. For the preparation of white solid supports, pulverized diatomite powders of less than 100 mesh sizes were mixed with 2% sodium carbonate, and treated with the same way as in preparing pink solid supports materials. This white solid supports treated with concentrated hydrochloric acid,10% sodium hydroxide and silane sequently, and ocated with 15% polyethylene glycol, did not show tailing to either compound but the resolution of peak were poor to non-polar compound, and gave a rather satisfactory result for the elution of polar compound compared with commercially available foreign equivalent packing materials.
Silicone-pyridine에 대한 Chlorophyll-a와 -b의 혼합착물의 형광연구(Ⅳ)
박면용,박택규,정구춘 建國大學校基礎科學硏究所 1987 理學論集 Vol.12 No.-
클로필-a와 -b를 혼합물의 상태로 1:2, 1:4, 1:6의 polydimethylethylsilane(0-2 -pyridylethyl methylsilane)에 Mg-pyridine 착물로 디에틸에테르중에서 결합시키고 중합체 사슬을 통한 에너지 이동을 연구하였다. Chl-b에 대한 Chl-a의 첨가량이 증가할수록 Chl-a의 혼합비(5:1, 3:1, 1:1)에 따라 형광수득율이 증가하였다. 반대로 Chl-b가 Chl-a에 비하여 첨가량이 증가할수록 형광수득율이 감소하였다. 최대 형광세기는 Chl-a와 Chl-b에 대하여 결합한 pyridine의 당량농도에서 나타났다. Chl-a에 의하여 흡수된 에너지는 중합체의 사슬을 통하여 Chl-b로 이동하였고 그 이동경향은 dimer>tetramer>hexamer의 순서로 증가하였다. The chlorophyll-a and -b have been bound 1:2, 1:4 and 1:6 polydimethyl ethyl silane(0-2-pyridylehylmethylsilane) as the mixed state to form the complex compound of Mg atom on chlorophyll and pyridine on the polymer in diethyl ether, and studied about the energy migration through the polymer chain in the same solvent. The more chl-a were added to chl-b the more increased fluorescence yields of chl-b were shown it to match for the mixed ratios of chl-a: chl-b in the order of 5:1, 3:1 and 1:1, while chl-a was shown the more decreased fluorescence yields according as the more chl-b were added. The maximum fluorescence intensity were appeared at equivalent pyridine concentration bound to the chl-a and -b. The absorbed energy by chl-a were transfered to chl-b through the chain, and the migration tendencies were on the increase of dimer>tetramer>hexamer.
朴冕用 건국대학교 1982 學術誌 Vol.26 No.2
The state of aggregation and segregation of chlorophyll-a has been deduced from absorbance and fluorescence spectrophotometry. The aggregated and segregated chl-a were identified by critical point which were appeared on absorbance curves of each λmax. verse the concentration of nucleophilic n-propyl alcohol added into non-polar iso-octane. The fluorescence excitation and emission yields were increased on the increasing of aggregation and decreased on the increasing of segregation.
양이온 교환 수지에 의한 아연의 지금 및 혼합물의 분리 정량
박면용 건국대학교 1970 學術誌 Vol.11 No.1
The impurities of Fe(III), Bi(III), Cu(II), Pb(II), Cd(II), and Ag(I) in zine metal are separated by the elution through 3.14cm2×25cm cation exchange resin, Dowex 50w×8(100∼200mesh), column with the mixed eluents of HAc and NaAc as eluents. The recoveries of all the ions are more than 99% and Fe(III) has a long tailing. The mixtures composed of Fe(III), Bi(III), Cu(II), Pb(II), Cd(II), Zn(II), and Ag(I) nitrate are dissolved in Nitric pH 1 solution and separated into its component through 3.14cm2×10cm column with the same eluents. Its recoveries are also found to be more than 99%.