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Park, Joonhong,Kim, Myungshin,Park, Chan Kee,Chae, Hyojin,Lee, Seungok,Kim, Yonggoo,Jang, Woori,Chi, Hyun Young,Park, Hae-Young Lopilly,Park, Shin Hae D.A. Spandidos 2016 MOLECULAR MEDICINE REPORTS Vol.14 No.3
<P>To investigate the underlying genetic influences of primary glaucoma in Korea, molecular analysis was performed in 112 sporadic cases, and results compared with healthy controls. The <I>myocilin</I> (<I>MYOC</I>) and <I>optineurin</I> (<I>OPTN</I>) genes were directly sequenced in 112 unrelated patients, including 17 with primary open-angle glaucoma, 19 with juvenile open-angle glaucoma, and 76 with normal tension glaucoma. Healthy unrelated Korean individuals (n=100) were used as the non-selected population control. A total of three <I>MYOC</I> and four <I>OPTN</I> variants potentially associated with primary glaucoma were identified in 4 and 18 patients, respectively. A novel variant of <I>MYOC</I>, <I>p.Leu255Pro</I>, was predicted to be potentially pathogenic by <I>in silico</I> analysis. Another, <I>p.Thr353Ile</I>, has been previously reported. These two missense variants were detected in patients with a family history of glaucoma. Combined heterozygous variants <I>p.[Thr123=;Ile288=]</I> were identified in 2 of 112 (2%) patients but not in healthy controls. Among <I>OPTN</I> variants, a novel variant <I>p.Arg271Cys</I> was identified. Homozygous <I>p.[Thr34=;Thr34=]</I> (4/112, 4%), homozygous <I>p.[Met98Lys;Met98Lys]</I> (4/112, 4%), or combined heterozygous <I>p.[Thr34=;Arg545Gln]</I> (9/112, 8%) was significantly associated with the development of primary glaucoma [odds ratio (OR)=8.768, 95% confidence interval (CI)=1.972–38.988; relative risk=1.818, 95% CI=1.473–2.244; P=0.001]. The present study provides insight into the genetic or haplotype variants of <I>MYOC</I> and <I>OPTN</I> genes contributing to primary glaucoma. Haplotype variants identified in the present study may be regarded as potential contributing factors of primary glaucoma in Korea. Further studies, including those on additional genes, are required to elucidate the underlying pathogenic mechanism using a larger cohort to provide additional statistical power.</P>
Park, Joonhong,Jang, Woori,Kim, Myungshin,Kim, Yonggoo,Shin, So Youn,Park, Kuhn,Kim, Myung Sook,Shin, Soyoung Elsevier Biomedical 2018 Journal of microbiological methods Vol.145 No.-
<P><B>Abstract</B></P> <P>The increasing burden of multidrug resistant (MDR)-TB, defined by resistance to rifampin (RFP) and isoniazid (INH), and extensively drug resistant-TB, defined by MDR-TB with additional resistance to fluoroquinolones (FQs) and more than one second-line injectable drug, is a serious impediment to global TB control. We evaluated the feasibility of full-length gene analysis including <I>inhA</I>, <I>katG</I>, <I>rpoB</I>, <I>pncA</I>, <I>rpsL embB</I>, <I>eis</I>, and <I>gyrA</I> using a semiconductor NGS with the Ion AmpliSeq TB panel to directly analyse 34 sputum specimens confirmed by phenotypic DST: INH, RFP, ethambutol (EMB), pyrazinamide (PZA), amikacin, kanamycin, streptomycin (SM), FQs including ofloxacin, moxifloxacin, and levofloxacin. The molecular drug resistance profiles showed “very good” and “substantial” strength of agreement for the phenotypic DST results of RFP and EMB, PZA, SM, FQs resistance with specificities of 96%, and 88%, 97%, 100% and sensitivities of 100%, and 88%, 60%, 67%, respectively. The strength of agreement for the detection of resistance to INH was “substantial”, compared between <I>katG</I> mutation and phenotypic INH only. Ion semiconductor NGS could make possible detection of several uncommon or novel amino acid changes in the full coding regions of these eight genes. However, molecular drug resistant profile should be complemented and validated by subsequent phenotypic DST studies at the same time.</P> <P><B>Highlights</B></P> <P> <UL> <LI> Molecular drug susceptibility of <I>M. tuberculosis</I> from sputum is proposed using NGS. </LI> <LI> The agreement between Molecular and phenotypic drug susceptibility is “substantial”. </LI> <LI> Molecular drug resistance profiles can be used as predictors of phenotype DST. </LI> <LI> Molecular drug resistant profile should be complemented with phenotypic DST. </LI> </UL> </P>
Wideband VHF and UHF RF Front-End Receiver for DVB-H Application
Joonhong Park,Sunyoul Kim,Minhye Ho,Donghyun Baek 대한전기학회 2012 Journal of Electrical Engineering & Technology Vol.7 No.1
This paper presents a wideband and low-noise direct conversion front-end receiver supporting VHF and UHFbands simultaneously. The receiver iscomposed of a low-noise amplifier (LNA), a down conversion quadrature mixer, and a frequency divider by 2. The cascode configuration with the resistor feedback is exploited in the LNA to achieve a wide operating bandwidth. Four gainstep modesare employed using a switched resistor bank and a capacitor bank in the signal path to cope with wide dynamic input power range. The verticalbipolar junction transistors are used as the switching elements in the mixer to reduce 1/f noise corner frequency. The proposed front-end receiver fabricated in 0.18 μm CMOS technology shows very low minimum noise figureof 1.8 dB and third order input intercept pointof -12dBm inthe high-gain mode of 26.5 dBmeasured at 500 MHz.The proposed receiverconsumeslow current of 20 mA from a 1.8 V power supply.
Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: A case report
PARK, JOONHONG,RYU, HYEJIN,JANG, WOORI,CHAE, HYOJIN,KIM, MYUNGSHIN,KIM, YONGGOO,KIM, JIYEON,LEE, JAE WOOK,CHUNG, NACK-GYUN,CHO, BIN,SUH, BYUNG KYU SPANDIDOS PUBLICATIONS 2015 MOLECULAR MEDICINE REPORTS Vol.11 No.5
Park, Joonhong,Congeevaram, Shankar,Ki, Dong-Won,Tiedje, James M. The Korean Society of Toxicogenomics and Toxicopro 2006 Molecular & cellular toxicology Vol.2 No.1
In this study we attempted to develop a novel genomic method to selectively isolate target functional microbial genomes from environmental samples. For this purpose, stable isotope probing (SIP) was applied in selectively isolating organic pollutant-assimilating populations. When soil microbes were fed with $^{13}C-labeled $ biphenyl, biphenyl-utilizing cells were incorporated with the heavy carbon isotope. The heavy DNA portion was successfully separated by CsCl equilibrium density gradient. And the diversity in the heavy DNA was sufficiently reduced, being suitable for the current DNA microarray techniques to detect biphenyl-utilizing populations in the soil. In addition, we proposed a new way to get more genetic information by combining this SIP method with selective metagenomic approach. The increased selective power of these new DNA isolation methods will be expected to provide a good quality of new genetic information, which, in turn, will result in development of a variety of biomarkers that may be used in assessing ecotoxicology issues including the impacts of organic hazards, and antibiotic-resistant pathogens on human and ecological systems.
A Fully-Differential Complementary Hartley VCO in 0.18 <tex> $\mu$</tex>m CMOS Technology
Joonhong Park,Junyoung Park,Youngwan Choi,Kweebo Sim,Donghyun Baek IEEE 2010 IEEE microwave and wireless components letters Vol.20 No.2
<P>In this letter, a new complementary Hartley (C-Hartley) voltage controlled oscillator (VCO) with fully differential outputs is proposed, in which the self-biasing configuration is introduced to solve the biasing difficulty of a Hartley VCO by employing a five-port transformer. The proposed C-Hartley VCO with the center frequency of 5.6 GHz is implemented in a 1P6M 0.18 μm CMOS process. The measurement result shows that the phase noise is -123.6 dBc/Hz at 1 MHz offset frequency, while dissipating 6.5 mA from 1.6 V supply with the FOM of -188.5 dBc.</P>