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Kim, Sewon,Kim, Kyunglan,Heo, Dong Won,Kim, Jong-Sung,Park, Chan Kee,Kim, Chang-sik,Kang, Changwon Molecular Vision 2015 Molecular vision Vol.21 No.-
<P><B>Purpose</B></P><P>The human <I>CAV1</I>-<I>CAV2</I> locus has been associated with susceptibility to primary open-angle glaucoma in four studies of Caucasian, Chinese, and Pakistani populations, although not in several other studies of non-Korean populations. In this study with Korean participants, the <I>CAV1</I>-<I>CAV2</I> locus was investigated for associations with susceptibility to primary open-angle glaucoma accompanied by elevated intraocular pressure (IOP), namely, high-tension glaucoma (HTG), as well as with IOP elevation, which is a strong risk factor for glaucoma.</P><P><B>Methods</B></P><P>Two single nucleotide polymorphisms (SNPs) were genotyped in 1,161 Korean participants including 229 patients with HTG and 932 healthy controls and statistically examined for association with HTG susceptibility and IOP. One SNP was rs4236601 G>A, which had been reported in the original study, and the other SNP was rs17588172 T>G, which was perfectly correlated (<I>r</I><SUP>2</SUP>=1) with another reported SNP rs1052990. Expression quantitative trait loci (eQTL) analysis was performed using GENe Expression VARiation (Genevar) data.</P><P><B>Results</B></P><P>Both SNPs were associated with HTG susceptibility, but the rs4236601 association disappeared when adjusted for the rs17588172 genotype and not vice versa. The minor allele G of rs17588172 was associated significantly with 1.5-fold increased susceptibility to HTG (p=0.0069) and marginally with IOP elevation (p=0.043) versus the major allele T. This minor allele was also associated with decreased <I>CAV1</I> and <I>CAV2</I> mRNA in skin and adipose according to the Genevar eQTL analysis.</P><P><B>Conclusions</B></P><P>The minor allele G of rs17588172 in the <I>CAV1</I>-<I>CAV2</I> locus is associated with decreased expression of <I>CAV1</I> and <I>CAV2</I> in some tissues, marginally with IOP elevation, and consequently with increased susceptibility to HTG.</P>
Kim, Hee-Jung,Suh, Wool,Park, Sung Chul,Kim, Chan Yun,Park, Ki Ho,Kook, Michael S.,Kim, Yong Yeon,Kim, Chang-Sik,Park, Chan Kee,Ki, Chang-Seok,Kee, Changwon Molecular Vision 2011 Molecular vision Vol.17 No.-
<P><B>Purpose</B></P><P>To elucidate the incidence of cytochrome P450 1B1 (<I>CYP1B1</I>) and myocillin (<I>MYOC</I>) mutations in Korean patients with primary congenital glaucoma (PCG).</P><P><B>Methods</B></P><P>Genomic DNA was collected from peripheral blood of 85 unrelated Korean patients who were diagnosed as having PCG by standard ophthalmological examinations and screened for mutations in the <I>CYP1B1</I> and <I>MYOC</I> genes by using bi-directional sequencing.</P><P><B>Results</B></P><P>Among 85 patients with PCG, 22 patients (22/85; 25.9%) had either one (n=11) or two (n=11) mutant alleles of the <I>CYP1B1</I> gene. Among 11 different<I> CYP1B1</I> mutations identified, a frameshift mutation (c.970_971dupAT; p.T325SfsX104) was the most frequent mutant allele (6/33; 18.2%) while p.G329S and p.V419Gfs11X were novel. In the <I>MYOC</I> gene, two variants of unknown significance (p.L228S and p.E240G) were identified in two PCG patients (2/85; 2.4%), respectively. No patient had mutations in both genes.</P><P><B>Conclusions</B></P><P>Although <I>CYP1B1</I> mutations are major causes of PCG in Korea, ~70% of PCG patients have neither <I>CYP1B1</I> nor <I>MYOC</I> mutations suggesting a high degree of genetic heterogeneity. Furthermore, the fact that 11 out of 22 patients had only one mutant allele in the <I>CYP1B1</I> gene necessitates further investigation for other genetic backgrounds underlying PCG.</P>
Kim, Kyunglan,Yun, Yong-jun,Kim, Sewon,Kim, Jong-Sung,Kim, Chang-sik,Kang, Changwon Molecular Vision 2011 Molecular vision Vol.17 No.-
<P><B>Purpose</B></P><P>Susceptibility to primary open-angle glaucoma (POAG) has recently associated with three intergenic single-nucleotide polymorphisms (SNPs) on human chromosome 2p16.3, just outside of the POAG-linkage locus GLC1H (2p15–16.2), in an Afro-Caribbean population. Especially, association of one SNP (rs12994401) was very strong (odds ratio 35) and later replicated in Afro-Americans but not in Ghanaians or Japanese. An extended region was examined in this study to look for SNPs of cross-population association.</P><P><B>Methods</B></P><P>The three reported SNPs and all 63 SNPs considerably correlating with rs12994401 (r<SUP>2</SUP>≥0.3) in the African-descendent Yoruba were examined for POAG susceptibility association in a Korean population of 1,159 unrelated participants including 226 cases with glaucoma. As these 66 SNPs were spread from 2p14 to 2p21, all SNPs in this extended region were imputed for susceptibility association tests.</P><P><B>Results</B></P><P>No susceptibility association was detected with rs12994401 in comparisons between 933 controls and 188 POAG (or 175 high-tension glaucoma) cases (statistical power of 100%), as well as with all 19 other typed SNPs, using logistic regression with adjustment for age and gender. The other 46 SNPs were deemed non-polymorphic in Koreans. Among 21,201 SNPs located in 2p14–21, only 4,260 were imputed to be non-monomorphic, but none of them passed a significance level of multiple testing. No association was observed when the samples were stratified by age or gender.</P><P><B>Conclusions</B></P><P>No typed or imputed SNPs within 2p14–21 showed association with susceptibility to POAG, suggesting that the population inconsistency in 2p16.3 association was unlikely due to linkage disequilibrium differences.</P>
Kim, Kyunglan,Heo, Dong Won,Kim, Sewon,Kim, Jong-Sung,Kim, Chang-sik,Kang, Changwon Macmillan Publishers Limited 2014 EUROPEAN JOURNAL OF HUMAN GENETICS Vol.22 No.3
Three human chromosome loci (1q43, 10p12.31, and 12q21.31) were recently associated with the susceptibility to primary open-angle glaucoma (POAG) in a Japanese population; however, this was not replicated in three subsequent studies using South Indian, Afro-Caribbean, and Chinese populations. To identify genetic markers that are robustly associated across ethnic populations, numerous markers in addition to the six in the three reported loci were examined in this study. A total of 31 single-nucleotide polymorphism (SNP) markers were genotyped for 1115 Korean participants, and many neighboring SNPs were imputed using the Korean HapMap Project genotype data. Each SNP was statistically tested for association with POAG susceptibility by comparisons among 211 POAG patients with 904 unaffected controls. A strong and statistically significant association was found with a previously unreported SNP, rs7098387 (odds ratio, OR=2.0 (1.4–3.0), P=0.00038) at the 10p12.31 locus (where 11 SNPs were typed and 38 imputed) in contrast to the reported rs7081455, which was too poorly correlated with newly associated rs7098387 (r<SUP>2</SUP>=0.003, D′=0.40) to show association. Additionally, a modest association was observed with the reported rs693421 (OR=1.4 (1.1–1.7), P=0.0082) and several other SNPs located within and around ZP4 at the 1q43 locus (10 SNPs typed and 14 imputed). However, no association was observed with the reported rs7961953 SNP or any other SNPs at the 12q21.31 locus, upstream of TMTC2 (10 SNPs typed and 29 imputed). Accordingly, POAG susceptibility association was replicated using rs7098387 (C) rather than rs7081455 (T) at the 10p12.31 locus and additionally with rs693421 (T) at the 1q43 locus.
김기훈(Kihoon Kim),김경호(Kyungho Kim),김형탁(Hyoungtak Kim),이주성(Jusung Lee),신민철(Mincheol Shin),김창원(Changwon Kim),윤진한(Jinhan Yun),이정규(Jungkyu Lee),홍원석(Wonseok Hong) 한국환경에너지공학회 2023 한국열환경공학회 학술대회지 Vol.2023 No.1
선택 적 비촉매 환원법 (Selective Non-Catalytic Reduction)은 소각로의 연소실 내부로 환원제를 주입하여 연소과정에서 발생하는 질소산화물을 제거하는 기술이다. 대부분의 소각시설에서는 환원제로 요소수를 사용하고 있으며, 이류체 노즐을 통하여 분사된 요소수는 연소가스 중 질소산화물을 질소와 수증기로 환원시킨다. 이러한 선택적 비촉매 환원법의 경우에 초기 투자비 및 유지비가 적다는 장점이 있으나 요소수가 액상으로 주입되기 때문에 질소산화물과의 반웅 효율이 낮아 일부 미반응된 요소수가 대기 중으로 배출되는 암모니아 슬립 발생에 대한 문제점이 있다. 또한 계속해서 강화되는 대기오염물질 배출허용기준과 미세먼지 관리 종합대책의 후속 조치로 질소산화물 배출 부과금제가 시행됨에 따라 기존의 소각시설들은 질소산화물의 관리를 강화할 수 있는 현실적인 대책이 필요한 실정이다. 따라서 본 연구에서는 요소수를 기화시킨 후 소각로 내부로 주입하여 암모니아 슬립 발생은 줄이면서 질소산화물의 저감 효율은 극대화하고자 하였으며, 추가적인 가열설비의 구축 없이 소각로에서 발생되는 폐열을 활용하여 이를 구현하고자 하였다. 요소수의 기화 및 주입을 위하여 소각로 잉여 열원의 현황을 파악하고 운영조건을 사전에 검토하였으며, 온도와 압력에 따른 요소수의 기화 특성을 실험적으로 확인하여 설비 제작을 위한 설계 인자를 도출하였다.
Kim, Min Su,Seo, Changwon,Kim, Hyun,Lee, Jubok,Luong, Dinh Hoa,Park, Ji-Hoon,Han, Gang Hee,Kim, Jeongyong American Chemical Society 2016 ACS NANO Vol.10 No.6
<P>Heterostacking of layered transition-metal dichalcogenide (LTMD) monolayers (1Ls) offers a convenient way of designing two-dimensional exciton systems. Here we demonstrate the simultaneous hosting of positive trions and negative trions in heterobilayers made by vertically stacking 1L MoSe2 and 1L MoS2. The charge transfer occurring between the 1Ls of MoSe2 and MoS2 converted the polarity of trions in 1L MoSe2 from negative to positive, resulting in the presence of positive trions in the 1L MoSe2 and negative trions in the 1L MoS2 of the same heterostacked bilayer. Significantly enhanced MoSe2 photoluminescence (PL) in the heterostacked bilayers compared to the PL of 1L MoSe2 alone suggests that, unlike other previously reported heterostacked bilayers, direct band transition of 1L MoSe2 in heterobilayer was enhanced after the vertical heterostacking. Moreover, by inserting hexagonal BN monolayers between 1L MoSe2 and 1L MoS2 we were able to adjust the charge transfer to maximize the MoSe2 PL of the heteromultilayers and have achieved a 9-fold increase of the PL emission. The enhanced optical properties of our heterostacked LTMDs suggest the exciting possibility of designing LTMD structures that exploit the superior optical properties of 1L LTMDs.</P>
Kim, Kwangwoo,Bang, So-Young,Joo, Young Bin,Kim, Taehyeung,Lee, Hye-Soon,Kang, Changwon,Bae, Sang-Cheol Journal of Rheumatology Pub. Co 2016 The Journal of rheumatology Vol.43 No.6
<P>Objective. Cyclophosphamide (CYC) is an immunosuppressant drug widely used to treat various diseases including lupus nephritis, but its efficacy highly varies from individual to individual. This pharmacogenomics association study searched for genetic variations associated with CYC efficacy. Methods. Genome-wide association scan was performed for 109 Korean patients with systemic lupus erythematosus with lupus nephritis (classes III-V) who received intravenous CYC induction therapy. Genetic differences between responders and nonresponders were examined using Cochran-Armitage trend tests, and genotype imputation was used for defining the association locus. Results. Genetic polymorphisms in the Fc gamma receptor gene (FCGR) cluster at human chromosome 1q23, previously associated with lupus nephritis susceptibility, were associated with the response to CYC treatment for lupus nephritis. Significant response association was found for 3 perfectly correlated (r(2) = 1) single-nucleotide polymorphisms (SNP): rs6697139, rs10917686, and rs10917688, located between the FCGR2B and FCRLA genes (p = 3.4 x 10(-8)). Carriage of the minor alleles in these SNP was found only in nonresponders (31%) and none in responders (0%). Conclusion. This first genome-wide association approach for CYC response yielded a robust profile of genetic associations including large-effect SNP in the FCGR2B-FCRLA locus, which may provide better insights to CYC metabolism and efficacy.</P>
Kim, Ju Young,Lee, Ra Ham,Kim, Tae Min,Kim, Dong-Wook,Jeon, Young-Joo,Huh, Sung-Ho,Oh, Se-Yeong,Kyba, Michael,Kataoka, Hiroshi,Choi, Kyunghee,Ornitz, David M.,Chae, Jung-Il,Park, Changwon American Society of Hematology 2014 Blood Vol.124 No.19
<P>In this study, we report that OVOL2, a C<SUB>2</SUB>H<SUB>2</SUB> zinc finger protein, is a novel binding protein of ER71, which is a critical transcription factor for blood and vessel development. OVOL2 directly interacted with ER71, but not with ETS1 or ETS2, in the nucleus. ER71-mediated activation of the <I>Flk1</I> promoter was further enhanced by OVOL2, although OVOL2 alone failed to activate it. Consistently, coexpression of ER71 and OVOL2 in differentiating embryonic stem cells led to a significant augmentation of FLK1<SUP>+</SUP>, endothelial, and hematopoietic cells. Such cooperative effects were impaired by the short hairpin RNA-mediated inhibition of <I>Ovol2</I>. Collectively, we show that ER71 directly interacts with OVOL2 and that such interaction is critical for FLK1<SUP>+</SUP> cell generation and their differentiation into downstream cell lineages.</P>