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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,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.
76–81-GHz CMOS Transmitter With a Phase-Locked-Loop-Based Multichirp Modulator for Automotive Radar
Joonhong Park,Hyuk Ryu,Keum-Won Ha,Jeong-Geun Kim,Donghyun Baek Professional Technical Group on Microwace Theory a 2015 IEEE Transactions on Microwave Theory and Techniqu Vol. No.
<P>This paper presents the design of a linear frequency-modulated continuous-wave (FMCW) radar transmitter (TX) for automotive radar applications. The TX has a wide operating range from 76 to 81 GHz by employing a frequency-doubling architecture using an LC voltage-controlled oscillator operating at 38-40.5 GHz and a differential frequency doubler using a single transformer. A chirp generator is integrated into the TX, which provides various frequency chirp profiles with programmable chirp slope and sweep duration. The proposed CMOS FMCW TX can be applied to various modulation algorithms for multiple target detection and the avoidance of ghost targets. The TX is implemented using 65-nm CMOS technology. The chip size is 1.48 × 1.85 mm <SUP>2</SUP>. The measurement results shows a 76-81-GHz frequency range and 3-dBm output power while dissipating 320 mW. The phase-noise density of the TX is -83.33 dBm/Hz at an offset frequency of 1 MHz when the output frequency is 77 GHz.</P>
Park, Joonhong,Yoo, Han Mo,Sul, Hae Jung,Shin, Soyoung,Lee, Seung Woo,Kim, Jeong Goo The Korean Gastric Cancer Association 2020 Journal of gastric cancer Vol. No.
Purpose: Gastrointestinal stromal tumors (GISTs) frequently harbor activating gene mutations in either KIT or platelet-derived growth factor receptor A (PDGFRA) and are highly responsive to several selective tyrosine kinase inhibitors. In this study, a targeted next-generation sequencing (NGS) assay with an Oncomine Focus Assay (OFA) panel was used for the genetic characterization of molecular targets in 30 Korean patients with GIST. Materials and Methods: Using the OFA that enables rapid and simultaneous detection of hotspots, single nucleotide variants (SNVs), insertion and deletions (Indels), copy number variants (CNVs), and gene fusions across 52 genes relevant to solid tumors, targeted NGS was performed using genomic DNA extracted from formalin-fixed and paraffin-embedded samples of 30 GISTs. Results: Forty-three hotspot/other likely pathogenic variants (33 SNVs, 8 Indels, and 2 amplifications) in 16 genes were identified in 26 of the 30 GISTs. KIT variants were most frequent (44%, 19/43), followed by 6 variants in PIK3CA, 3 in PDGFRA, 2 each in JAK1 and EGFR, and 1 each in AKT1, ALK, CCND1, CTNNB1, FGFR3, FGFR4, GNA11, GNAQ, JAK3, MET, and SMO. Based on the mutation types, majority of the variants carried missense mutations (60%, 26/43), followed by 8 frameshifts, 6 nonsense, 1 stop-loss, and 2 amplifications. Conclusions: Our study confirmed the advantage of using targeted NGS with a cancer gene panel to efficiently identify mutations associated with GISTs. These findings may provide a molecular genetic basis for developing new drugs targeting these gene mutations for GIST therapy.
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>
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,Yoo, Han Mo,Jang, Woori,Shin, Soyoung,Kim, Myungshin,Kim, Yonggoo,Lee, Seung-Woo,Kim, Jeong Goo Williams & Wilkins Co 2017 Medicine Vol.96 No.25
<P><B>Abstract</B></P><P>In studies of the molecular basis of gastric cancer (GC), microsatellite instability (MSI) is one of the key factors. Somatic mutations found in GC are expected to contribute to MSI-high (H) tumorigenesis. We estimated somatic mutation distribution according to MSI status in 52 matched pair GC samples using the Ion Torrent Ion S5 XL with the AmpliSeq Cancer Hotspot panel.</P><P>Seventy-five (9.8%) somatic variants consisting of 34 hotspot mutations and 41 other likely pathogenic variants were identified in 34 GC samples. The <I>TP53</I> mutations was most common (35%, 26/75), followed by <I>EGFR</I> (8%, 6/75), <I>HNF1A</I> (8%, 6/75), <I>PIK3CA</I> (8%, 6/75), and <I>ERBB2</I> (5%, 4/75). To determine MSI status, 52 matched pair samples were estimated using 15 MSI markers. Thirty-nine MS stable (S), 5 MSI-low (L), and 8 MSI-H were classified. GCs with MSI-H tended to have more variants significantly compared with GCs with MS stable (MSS) and MSI-L (standardized J-T statistic = 3.161 for number of variants; <I>P</I> = .002). The mean number of all variants and hotspot mutations per tumor samples only in GCs with MSI-H were 3.9 (range, 1–6) and 1.1 (range, 0–3), respectively. Whereas, the mean number of all variants and hotspot mutations per tumor samples only in GCs with MSS/MSI-L were 1 (0–5)/0.8 (0–1) and 0.5 (0–3)/0.8 (0–1), respectively.</P><P>In conclusion, GC with MSI-H harbored more mutations in genes that act as a tumor suppressor or oncogene compared to GC with MSS/MSI-L. This finding suggests that the accumulation of MSIs contributes to the genetic diversity and complexities of GC. In addition, targeted NGS approach allows for detection of common and also rare clinically actionable mutations and profiles of comutations in multiple patients simultaneously. Because GC shows distinctive patterns related to ethnics, further studies pertaining to different racial/ethnic groups or cancer types may reinforce our investigations.</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>