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The Study of DNA Mutations of Phenylketonuria in Koreans (한국인에서의 페닐케톤뇨증의 유전자변이에 대한 고찰)

  • Yoo, Su-Jung;Hong, Yong-Hee;Lee, Yong-Wha;Jung, Sung-Chul;Ki, Chang-Seok;Lee, Dong-Hwan
    • Journal of Genetic Medicine
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    • v.5 no.1
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    • pp.26-33
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    • 2008
  • Purpose : Phenylketonuria(PKU) is an inborn error of metabolism and a genetic disorder resulting from a deficiency of phenylalanine hydroxylase(PAH) and decreased activity of tetrahydrobiopterin(BH4).In this study the correlation between the DNA mutation and clinical manifestations was investigated and PAH DNA mutations were compared bewteen Asian and Caucasian populations. Methods : DNA was isolated from peripheral leukocytes. The PAH gene was amplified by Polymerase Chain Reaction(PCR) and the sequence was analyzed with Multiplex Ligation-dependent Probe Amplification(MLPA). Results : We characterized the PAH gene of 102 independent Korean patients with PKU. PAH nucleotide sequence analysis revealed 44 different mutations, including 10 novel mutations comprising 9 missense mutations(N207D, K95del, A447P, G344D, P69S, S391I, A202T, G103S, and I306L) and 1 novel splice-site variant mutation(IVS10-3C>G). R243Q was the most prevalent mutation in this study. A259T has not previously been reported in Asian populations, but we found that this mutation had a frequency of 10.1% in our study. Furthermore, the genotypes of $BH_4$ responsive patients were analyzed and were divided into two groups: $BH_4$ medication-only group and $BH_4$ medication with diet therapy group. In the $BH_4$ medication-only group and $BH_4$ medication with diet therapy group, R241C was the most common mutation. Conclusion : Novel mutations in the PAH gene of PKU patients are still being discovered. Additional information as to the frequency of mutations in the tetrahydrobiopterine responsive gene is also accumulating. We anticipate that knowledge of these PKU gene mutations will assist the diagnosis, genetic counseling, and therapeutic treatment of PKU patients in future.

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A Study on the Effects of User Participation on Stickiness and Continued Use on Internet Community (인터넷 커뮤니티에서 사용자 참여가 밀착도와 지속적 이용의도에 미치는 영향)

  • Ko, Mi-Hyun;Kwon, Sun-Dong
    • Asia pacific journal of information systems
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    • v.18 no.2
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    • pp.41-72
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    • 2008
  • The purpose of this study is the investigation of the effects of user participation, network effect, social influence, and usefulness on stickiness and continued use on Internet communities. In this research, stickiness refers to repeat visit and visit duration to an Internet community. Continued use means the willingness to continue to use an Internet community in the future. Internet community-based companies can earn money through selling the digital contents such as game, music, and avatar, advertizing on internet site, or offering an affiliate marketing. For such money making, stickiness and continued use of Internet users is much more important than the number of Internet users. We tried to answer following three questions. Fist, what is the effects of user participation on stickiness and continued use on Internet communities? Second, by what is user participation formed? Third, are network effect, social influence, and usefulness that was significant at prior research about technology acceptance model(TAM) still significant on internet communities? In this study, user participation, network effect, social influence, and usefulness are independent variables, stickiness is mediating variable, and continued use is dependent variable. Among independent variables, we are focused on user participation. User participation means that Internet user participates in the development of Internet community site (called mini-hompy or blog in Korea). User participation was studied from 1970 to 1997 at the research area of information system. But since 1997 when Internet started to spread to the public, user participation has hardly been studied. Given the importance of user participation at the success of Internet-based companies, it is very meaningful to study the research topic of user participation. To test the proposed model, we used a data set generated from the survey. The survey instrument was designed on the basis of a comprehensive literature review and interviews of experts, and was refined through several rounds of pretests, revisions, and pilot tests. The respondents of survey were the undergraduates and the graduate students who mainly used Internet communities. Data analysis was conducted using 217 respondents(response rate, 97.7 percent). We used structural equation modeling(SEM) implemented in partial least square(PLS). We chose PLS for two reason. First, our model has formative constructs. PLS uses components-based algorithm and can estimated formative constructs. Second, PLS is more appropriate when the research model is in an early stage of development. A review of the literature suggests that empirical tests of user participation is still sparse. The test of model was executed in the order of three research questions. First user participation had the direct effects on stickiness(${\beta}$=0.150, p<0.01) and continued use (${\beta}$=0.119, p<0.05). And user participation, as a partial mediation model, had a indirect effect on continued use mediated through stickiness (${\beta}$=0.007, p<0.05). Second, optional participation and prosuming participation significantly formed user participation. Optional participation, with a path magnitude as high as 0.986 (p<0.001), is a key determinant for the strength of user participation. Third, Network effect (${\beta}$=0.236, p<0.001). social influence (${\beta}$=0.135, p<0.05), and usefulness (${\beta}$=0.343, p<0.001) had directly significant impacts on stickiness. But network effect and social influence, as a full mediation model, had both indirectly significant impacts on continued use mediated through stickiness (${\beta}$=0.11, p<0.001, and ${\beta}$=0.063, p<0.05, respectively). Compared with this result, usefulness, as a partial mediation model, had a direct impact on continued use and a indirect impact on continued use mediated through stickiness. This study has three contributions. First this is the first empirical study showing that user participation is the significant driver of continued use. The researchers of information system have hardly studies user participation since late 1990s. And the researchers of marketing have studied a few lately. Second, this study enhanced the understanding of user participation. Up to recently, user participation has been studied from the bipolar viewpoint of participation v.s non-participation. Also, even the study on participation has been studied from the point of limited optional participation. But, this study proved the existence of prosuming participation to design and produce products or services, besides optional participation. And this study empirically proved that optional participation and prosuming participation were the key determinant for user participation. Third, our study compliments traditional studies of TAM. According prior literature about of TAM, the constructs of network effect, social influence, and usefulness had effects on the technology adoption. This study proved that these constructs still are significant on Internet communities.

Studies on Natural Plant Extracts for Methane Reduction in Ruminants (반추동물의 메탄감소를 위한 천연식물 추출물에 관한 연구)

  • Lee, Shin-Ja;Eom, Jun-Sik;Lee, Su-Kyoung;Lee, Il-Dong;Kim, Hyun-Sang;Kang, Han-Beyol;Lee, Sung-Sil
    • Korean Journal of Organic Agriculture
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    • v.25 no.4
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    • pp.901-916
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    • 2017
  • This study was conducted to evaluate natural plant extracts for methane gas reduction in ruminants. Rumen fluid was collected from cannulated Hanwoo cow ($450{\pm}30kg$) consuming 400 g/kg concentrate and 600 g/kg timothy. The 15 ml of mixture comparing McDougall's buffer and rumen fluid in the ratio 2 to 1, was dispensed anaerobically into 50 ml serum bottles. Rumen fluid contents were collected and in vitro fermentation prepared control (timothy, 300 mg), ginseng, balloon flower, yucca plant, camellia, tea plant and ogapi extracts were added at the level of 5% against 300 mg of timothy as a substrate (v/w) and incubated for 3, 6, 9, 12, 24, 48, and 72 h. In vitro pH values range 6.55~7.41, this range include rumen titration. The dry matter digestibility was not differ between all treatments and control. Total gas emission was significantly higher (p<0.05) in ginseng and balloon flower treatments on 24 h than in control. Carbon dioxide emission was not differ all treatments on 9 h than in control and significantly higher (p<0.05) yucca plant, camellia and tea plant treatments on 12 h than control. Methane emission was not differ all treatments on 6 h than in control. The rumen microbial growth rate was significantly higher (p<0.05) in ginseng, balloon flower on 12 h and significantly higher (p<0.05) in ginseng, yucca plant, tea plant and ogapi treatments on 24 h than in control. Total VFA was significantly higher (p<0.05) in tea plant and ogapi treatments on 12 h than in control and significantly higher (p<0.05) in ginseng, balloon flower treatments on 48 h than in control. Acetic acid was significantly lower (p<0.05) in ginseng and balloon flower treatments on 24 h than in control. Propionic acid was significantly higher (p<0.05) in ginseng and balloon flower treatments on 48 h than in control. As a results, sixth natural plant extracts had no significant effect dry matter digestibility and negative on rumen fermentation, but not effect methane reduction.

The Cosmetic Operation without Healing Purpose - A comparative insight into the ruling of BSG and BGH - (미용성형의료 - 우리 판결례와 독일 판결례의 비교·분석적 소고 -)

  • Ahn, Bup-Young
    • The Korean Society of Law and Medicine
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    • v.16 no.1
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    • pp.3-82
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    • 2015
  • This paper is concerned in the theme of the liability for the breach of duty to inform(Haftungszurechnung der $Aufkl{\ddot{a}}rungspflichtverletzung$) and the malpractice of cosmetic surgery. Here, the terms, treatments for healing purposes and purely medical-technical cosmetic operations are well integrated in the category of "medical conduct(medizinische Handlung)" within the meaning of the public and administrative 'Medical Law'. In the judgment of 6. 13. 2013 Az. 2012DA94865 provides the KHGH(Korean Highest Court of Justice) to inform the patient about the prospects and risks of cosmetic surgery(Infrabrow Excision Blepharoplasty) stringent requirements, similar to the judicature of BGH(cf. BGH, Urt. v. 6. 11. 1990, Az.: VI ZR 8/90). Even in the judgment of 5. 12. 2014 Az. 2013GASO865646 the SZLG(Seoul Central Regional Court) recognizes the physician contract for 'cosmetic septoplasty' as a sort of contract for work. The medical treatment(${\ddot{a}}rztliche$ Heilbehandlung) is still regarded as a prototype of the medical activity, therefore in the meaning of the 'Civil Law(KBGB)', its term needs to be used immediately for healing purposes. The cosmetic operation, desired by a patient, differs from the healing treatment by the element of "indication" and the fact that the "healing purpose(Heilzweck)" itself is missing. In comparative context - methodically fully aware that the unreflective term transfer between different laws might contradict their legal purposes - a series of judgments BSG(BSGE 63, 83, BSGE 72, 96, BSGE, 82, 158, BSGE 93, 252 etc.) and some judgments of LSG are reviewed. In addition, also the dogmatic topic for the "legal natur of a medical treatment contract" is to reconsider by comparative introducing BGHZ 63, 306. Now in view of the current state of greater popularity of artificial cosmetic surgery still indeed is the sentences: The doctor is minister naturae, a helper of nature. A doctor promises regularly only the proper treatment of the patient, but the contractual liability for work should not be excluded in medical conditions for cosmetic surgeries altogether. "With cosmetic operations, seeking to eliminate the external deformities, the doctor may miss the medical profession entirely." - A. Laufs, Medical Law, 5th ed. P. 18.

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Activation Mechanism of Protein Kinase B by DNA-dependent Protein Kinase Involved in the DNA Repair System

  • Li, Yuwen;Piao, Longzhen;Yang, Keum-Jin;Shin, Sang-Hee;Shin, Eul-Soon;Park, Kyung-Ah;Byun, Hee-Sun;Won, Min-Ho;Choi, Byung-Lyul;Lee, Hyun-Ji;Kim, Young-Rae;Hong, Jang-Hee;Hur, Gang-Min;Kim, Jeong-Lan;Cho, Jae-Youl;Seok, Jeong-Ho;Park, Jong-Sun
    • Toxicological Research
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    • v.24 no.3
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    • pp.175-182
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    • 2008
  • DNA-dependent protein kinase(DNA-PK) is involved in joining DNA double-strand breaks induced by ionizing radiation or V(D)J recombination and is activated by DNA ends and composed of a DNA binding subunit, Ku, and a catalytic subunit, DNA-PKcs. It has been suggested that DNA-PK might be $2^{nd}$ upstream kinase for protein kinase B(PKB). In this report, we showed that Ser473 phosphorylation in the hydrophobic-motif of PKB is blocked in DNA-PK knockout mouse embryonic fibroblast cells(MEFs) following insulin stimulation, while there is no effect on Ser473 phosphorylation in DNA-PK wild type MEF cells. The observation is further confirmed in human glioblastoma cells expressing a mutant form of DNA-PK(M059J) and a wild-type of DNA-PK(M059K), indicating that DNA-PK is indeed important for PKB activation. Furthermore, the treatment of cells with doxorubicin, DNA-damage inducing agent, leads to PKB phosphorylation on Ser473 in control MEF cells while there is no response in DNA-PK knockout MEF cells. Together, these results proposed that DNA-PK has a potential role in insulin signaling as well as DNA-repair signaling pathway.

Investigation of Post-seismic Sites Using Local Seismic Tomography in the Korean Peninsula (지진 토모그래피를 이용한 한반도의 과거진원지역의 특성 연구)

  • Kim So-Gu;Bae Hyung-Sub
    • Economic and Environmental Geology
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    • v.39 no.2 s.177
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    • pp.111-128
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    • 2006
  • Three dimensional crustal structure and source features of earthquake hypocenters on the Korean peninsula were investigated using P and S-wave travel time tomography. The main goal of this research was to find Vp/Vs anomalies at earthquake hypocenters as well as those of crustal structure of basins and deep tectonic settings. This allowed fer the extrapolation of more detailed seismotectonic force from the Korean peninsula. The earthquake hypocenters were found to have high Vp/Vs ratio discrepancies (VRD) at the vertical sections. High V/p/Vs ratios were also found in the sedimentary basins and beneath the Chugaryong Rift Zone (CRZ), which was due to mantle plume that subsequently solidified with many fractures and faults which were saturated with connate water. The hypocenters of most earthquakes were found in the upper crust for Youngwol (YE), Kyongju (KE), Hongsung (HE), Kaesong (KSE), Daekwan (DKE), and Daehung (DHE) earthquakes, but near the subcrust or the Moho Discontinuity for Mt. Songni (SE), Sariwon (SRE) and Mt. Jiri (JE) earthquakes. Especially, we found hot springs of the Daekwan, Daehung and Unsan regions coincide with high VRD. Also, this cannot rule out the possibility that there are some partial meltings in the subcrust of this region. High VRD might indicate that many faults and fractures with connate water were dehydrated when earthquakes took place, reducing shear modulus in the hypocenter areas. This is can be explained by due to the fact that a point source which is represented by the moment tensor that may involve changes in volume, shear fracture, and rigidity. High Vp/Vs ratio discrepancies (VRD) were also found beneath Mt. Backdu beneath 40 km, indicating that magma chamber existed beneath Mt. Backdu is reducing shear modulus of S-wave velocity.

Radical Radiotherapy for Carcinoma of the Prostate (전립선암의 근치적 방사선치료)

  • Chun, Ha-Chung;Lee, Myung-Za
    • Radiation Oncology Journal
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    • v.19 no.1
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    • pp.40-44
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    • 2001
  • Purpose : To evaluate effect and tolerance of external beam radiotherapy for carcinoma of the prostate and define the optimal radiotherapeutic regimen. Materials and methods : We retrospectively analyzed the records of 60 patients with prostate cancer who were treated with external beam radiotherapy with curative intent in our institution between September, 1987 and March, 2000. Histologic diagnosis was established by transurethral resection or ultrasonography guided biopsy. The major presenting symptoms were a nodule at routine prostatic examination and frequency and urgency of urination, along with dysuria. The median age was 63 years with range of 51 to 87 years. There were 6 patients in Stage A, 20 in Stage 8, 26 in Stage C, and 8 in Stage Dl. All patients were treated with megavoltage equipment producing 10 MV photons. The 4 field pelvic brick technique was used to a dose of 45 Gy or 50.4 Gy at 1.8 Gy per day in 5 to 6 weeks, after which a small boost field was delivered 2.0 Gy per day to a total dose of 66 to 70 Gy. The follow-up period ranged from 1 to 8 years. Results : Actuarial 5-year and 7-year survival rates for Stage A, B, C, and D1 were $100\%\;and\;84\%$, $83\%\;and\;72\%$, $67\%\;and\;54\%$, and $v$, respectively. The corresponding 5-year and 7-year relapse free survival rates were $84\%\;and\;84\%$, $77\%\;and\;67\%$, $48\%\;and\;40\%$, and $33\%\;and\;25\%$, respectively. Relapse free 5-year survival rates for Stage B were $80\%,\;80\%,\;and\;50\%$ for well, moderately, and poorly differentiated tumors, respectively. These were $64\%,\;44\%,\;and\;33\%$ for Stage C, respectively. The local control rates at 5 years were $84\%,\;85\%,\;78\%,\;and\;60\%$ for Stage A, B, C, and D1, respectively. Mild to moderate complications were observed in $22\%$ of patients. Severe complications requiring surgical procedures were documented in only $3\%$ of patients. Conclusion : This study confirms that external beam irradiation is an effective and safe treatment for prostatic cancer, providing long-term local control and good survival with acceptable complications.

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Outcomes of Chronic Peritoneal Dialysis by Various Modalities in Korean Children - A Single Center Study (소아 환자에서 다양한 복막투석 방법간의 결과 비교-단일기관 연구)

  • Lee, Sung-Ha;Baek, Jae-Suk;Lee, Hyun-Kyung;Han, Kyoung-Hee;Choi, Hyun-Jin;Lee, Bum-Hee;Cho, Hee-Yeon;Cheong, Hae-Il;Choi, Yong;Ha, Il-Soo
    • Childhood Kidney Diseases
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    • v.11 no.2
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    • pp.255-263
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    • 2007
  • Purpose : A single center cross sectional retrospective study was performed to compare the outcomes of different peritoneal dialysis(PD) modalities in Korean children. Methods : Among children dialyzed with PD between the year 2004 and 2007, 35 children had reliable data on PD adequacy after 3 to 15 months of dialysis. Subjects were grouped by their modalities; 17, 13 and 5 children were on continuous ambulatory PD(CAPD), continuous cyclic PD(CCPD) and nightly intermittent PD(NIPD), respectively. Body weight and height, number of patients taking anti-hypertensives and laboratory data including biochemical and hemoglobin levels were compared. Dialysis adequacy including weekly Kt/Vurea, creatinine clearance (Ccr) and daily water removal were also compared. Patients were sub-grouped by their peritoneal permeability characteristics. Results : The percentage of patients taking anti-hypertensives, monthly change in Z-scores of body weight and height and laboratory data did not differ among the groups. Patients on CAPD and CCPD showed similar dialysis adequacies. Weekly dialytic Ccr was significantly lower in the NIPD group compared to the others. But total Ccr was not different when residual renal function was added. Weekly dialytic Ccr by CAPD was significantly higher than that of CCPD in low and low-average transporters. Conclusion : We propose that modality can be selected flexibly according to the patients' preferences. And peritoneal permeability characteristics provide valuable information for adjusting PD prescriptions in ultrafiltration failure or in inadequate dialysis. Further study of other clinical performance measures should be performed to clarify the comparable outcomes in different PD modalities.

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Weed-Ecological Classification of the Collected Barnyardgrass [Echinochloa crus-galli (L.) Beauv]) in Korea - I. Variation of quantitative and attributable characters in collected barnyardgrass [Echinochloa crus-galli (L.) Beauv.] accessions (한국산(韓國産) 피(Echinochloa crus-galli(L.) Beauv.) 수집종(蒐集種)의 잡초생태학적(雜草生態學的) 분류(分類)에 관한 연구(硏究) - 제(第) I 보(報) 수집종(蒐集種) 피의 양적(量的) 및 질적형질(質的形質)의 변이(變異))

  • Im, I.B.;Guh, J.O.;Lee, J.Y.;Cho, Y.S.
    • Korean Journal of Weed Science
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    • v.8 no.3
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    • pp.273-282
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    • 1988
  • The seventeen barnyardgrass [Echinochloa crus-galli (L.) Beauv.] accessions, which were collected national-widely in 1986 and selected two times through 1987, were experimented at 1988. To study the degree of ecological variations of the collected accessions of native barngardgrass species as a weed, the experiment was conducted with Wagner pots in size of 1/5000a and under P.E. film house. Among 57 characters, 100 grains weight, rate of tiller increase from transplanting to 30 days, the number of the maximum tillers and rate of dry weight increase from 15 DAS to 22 DAS were become intra-specific variarions as higher coefficient of varation than 30%, the size of the first leaf, fresh weight and dry 22 seedlings, rate of productive tiller, panicle number and tillering divergence made intra-specific variations as more and less C. V. than 25%, while the required days upto heading since seeding at June 6. rate of fresh/dry weight and plant height of 22 days old seedling made intra-specific variations as the coefficient of variation of about 50%. Among the attributes the color in leaf, leaf sheath, mid-ribs, node, spike, grain, and plant type, length of leaf marginal tooth, grain shape, purple bend on leaf were seemed useful to indentify the accessible specific.

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Expression of Sodium/iodide Symporter Transgene in Neural Stem Cells (신경줄기세포(HB1.F3)에서 나트륨옥소 공동수송체 도입유전자 발현)

  • Kim, Yun-Hui;Lee, Dong-Soo;Kang, Joo-Hyun;Lee, Yong-Jin;Chung, June-Key;Lee, Myung-Chul
    • The Korean Journal of Nuclear Medicine
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    • v.38 no.1
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    • pp.99-108
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    • 2004
  • Purpose: The ability to noninvasively track the migration of neural progenitor cells would have significant clinical and research implications. We generated stably transfected F3 human neural progenitor cells with human sodium/iodide symporter (hNIS) for noninvasively tracking F3. In this study, the expression patterns of hNIS gene in F3-NIS were examined according to the cultured time and the epigenetic modulation. Materials and Methods: F3 human neural stem cells had been obtained from Dr. Seung U. Kim (Ajou University, Suwon, Korea). hNIS and hygromycin resistance gene were linked with IRES (Internal Ribosome Entry Site) under control of CMV promoter. This construct was transfected to F3 with Liposome. To investigate the restoration of hNIS gene expression in F3-NIS, cells were treated with demethylating agent (5-Azacytidine) and Histone deacetylase inhibitor (Trichostatin A: TSA). The expression of hNIS was measured by I-125 uptake assay and RT-PCR analysis. Results: The iodide uptake of the F3-NIS was higher 12.86 times than F3 cell line. According to the cell passage number, hNIS expression in F3-NIS gradually diminished. After treatment of 5-Azacytidine and TSA with serial doses (up to $20{\mu}M$, up to 62.5nM, respectively) for 24 hours, I-125 uptake and mRNA of hNIS in F3-NIS were increased. Conclusion: These results suggest that hNIS transfected F3 might undergo a change in its biological characters by cell passage. Therefore, the gene ex[ressopm of exogenous gene transferred human stem cell might be affected to the epigenetic modulation such as promoter methylation and Histone deacetylation and to the cell culture conditions.