• Asian Pacific Journal of Cancer Prevention
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• 제13권11호
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• pp.5563-5568
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• 2012

Based on our previous report on gastric cancer which documented ATP4A and ATP4B mRNA down-regulation in gastric tumors relative to normal gastric tissues, we hypothesized that epigenetic mechanisms could be responsible. ATP4A and ATP4B mRNA expression in gastric cancer cell lines AGS, SNU638 and NUGC-3 was examined using reverse transcriptase PCR (RT-PCR). AGS cells were treated with TSA or 5'-AzaDC and methylation specific PCR (MSP) and bisulfite sequencing PCR (BSP) analysis were performed. MSP analysis was on DNA from paraffin embedded tissues sections and plasma. Expression analysis revealed downregulation of ATP4A and ATP4B genes in gastric cancer cell lines relative to normal gastric tissue, while treatment with 5'-AzaDC re-activated expression of both. Search for CpG islands in their putative promoter regions did not indicate CpG islands (CGI) but only further downstream in the bodies of the genes. Methylation specific PCR (MSP) in the exon1 of the ATP4B gene and exon7 in ATP4A indicated methylation in all the gastric cancer cell lines tested. MSP analysis in tumor tissue samples revealed methylation in the majority of tumor samples, 15/19, for ATP4B and 8/8 for ATP4A. There was concordance between ATP4B and ATP4A down-regulation and methylation status in the tumour samples tested. ATP4B methylation was detectable in cell free DNA from gastric cancer patient's plasma samples. Thus ATP4A and ATP4B down-regulation involves DNA methylation and methylated ATP4B DNA in plasma is a potential biomarker for gastric cancer.

• Journal of Genetic Medicine
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• 제8권1호
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• pp.53-57
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• 2011

목 적: 윌슨병은 간조직에 구리의 과도한 침착으로 발병하는 상염색체 열성 유전질환이다. 지금까지 ATP7B 유전자가 유일한 원인유전자로 알려져 왔다. 그러나, 약 15%의 환자에서는 ATP7B 유전자 돌연변이가 발견되지 않는다. 본 연구는 ATP7B 유전자의 돌연변이가 발견되지 않은 윌슨병 환자를 대상으로 새로운 원인 유전자를 발견하기 위하여 시행되었다. 대상 및 방법: ATP7B 돌연변이가 발견되지 않은 12명의 윌슨병 환자를 대상으로 ATP7B 와 상호작용을 하는 것으로 알려진 ATOX1, COMMD1, GLRX, DCTN4와 ZBTB16 유전자의 전사부위와 엑손-인트론 경계부위의 염기서열을 분석하였다. 결 과: DCTN4 유전자의 12번 엑손에 존재하는 c.1084A>G(p.Thr362Ala)를 포함하는 3가지의 변이가 환자에서 발견되었다. in silico 분석을 통해 3가지 변이 중 c.1084A>G가 유일하게 단백질 기능 변화를 일으킬 것으로 예측되었다. 176명의 윌슨병 환자와 414명의 정상인을 대상으로 이 변이의 빈도를 조사한 결과, 정상인보다 윌슨병 환자에서 더 높은 빈도를 나타내었다(상대비, odds ratio [OR]=3.14, 95% 신뢰도=1.36-7.22, P=0.0094). 결 론: 본 연구의 결과는 ATP7B 와 상호작용하는 DCTN4 유전자의 c.1084A>G (p.Thr362Ala) 다형성이 윌슨병의 발병과 연관이 있음을 시사한다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제15권2호
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• pp.122-126
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• 2012

Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by multiple recurrent episodes of severe cholestatic jaundice without obstruction of extrahepatic bile duct. We present the case of a 7-year-old boy with BRIC confirmed by mutation analysis in the ATP8B1 gene and typical clinical manifestation. Despite inheritance of BRIC, we detected a mutation on only one allele. To our knowledge, this is the first report of BRIC with a confirmed single heterozygote novel mutation in the ATP8B1 gene in Korea.

• 한국균학회지
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• 제21권4호
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• pp.285-292
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• 1993

에너지 요구 반응 인 5'-XMP 의 5'-GMP 보의 효소적 전환을 위해 Escherichia coli CH 41(guaB mutant)로부터 추출 정제한 XMP aminase에 Saccharomyces cerevisiae의 glycolysis를 통한 ATP 재생계를 도입하였다. 전환 반응의 ATP원으로는 동결 건조 효모가 가장 효율적이었으며, 전환 반응의 최적 온도 및 pH는 각각 $40{\circ]C$, pH 7.4였다. 또한 100 mM glucose, 100 mM inorganic phosphate 및 6mM AMP 에서 가상 높은 전환율을 보였다. 상기의 조건에서 36 unit/ml의 XMP aminase 가 이용될 경우 효모 농도는 60 mg/ml로 충분하였으며, 최적 조건에서 6시간 반응시 1.8 mM(65.6 mg/100 ml) 5'- XMP 의 약 71%가 5'-GMP로 전환되었다.

• 식물분류학회지
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• 제42권4호
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• pp.282-293
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• 2012

한국산 초롱꽃과 8속 28분류군과 외군 2분류군 등 총 30분류군에 대한 계통유연관계를 알아보기 위하여 엽록체 DNA의 atpB, atpB-rbcL, atpF-H, matK, rbcL, rpl16, rpoC1 그리고 trnL-F 지역의 염기서열 분석을 실시하였다. 8개 유전자 지역의 염기서열 자료를 융합하여 분석한 결과 도라지속과 더덕속이 가장 기부에 분계조를 형성하였고 애기도라지속과 초롱꽃속은 각각 독립적으로 유집되었다. 홍노도라지속과 영아자속은 잔대속-금강초롱꽃속 분계조를 위한 자매군을 형성하였으며, 금강초롱꽃속은 잔대속의 모시대절과 분계조를 형성하였고 잔대속은 크게 하나의 군을 형성하였다. 본 연구에서 다룬 엽록체 DNA 8개 지역의 염기서열 자료에 기초한 한국산 초롱꽃과의 계통분석 결과, 속 수준에서의 구분은 가능하였으나 절 또는 계열 등 잔대속 내에서의 일부 분류계급은 형태 형질에 의한 분류체계와 일치하지 않았다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제22권5호
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• pp.479-486
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• 2019

Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic disorders, inherited in an autosomal recessive manner, causing cholestasis of hepatocellular origin, later progressing to biliary cirrhosis and liver failure. This is the first report of PFIC type 1 with novel compound heterozygous mutations in Korea. The patient was presented with intrahepatic cholestasis, a normal level of serum ${\gamma}-glutamyl$ transferase, steatorrhea, and growth failure. Genetic testing of this patient revealed novel compound heterozygous mutations (p.Glu585Ter and p.Leu749Pro) in the ATP8B1 gene. After a liver transplantation at age 19 months, the patient developed severe post-transplant steatohepatitis.

• 한국식품영양학회지
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• 제28권5호
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• pp.918-925
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• 2015

An investigation was conducted to evaluate the hygienic status of 33 high school foodservice systems in Yongin city by using hygiene management guide checklist, ATP bioluminescence assay and microbe inspection petrifilm (APC, coliform group, Staphylococcus aureus) of food utensils during use. The 22 hygiene management guide checklist items about facilities, personal hygiene, food control, distribution, washing and disinfection had good grade but there were some inadequate behaviors on observation. The inspection results showed their sanitary condition met the level B of the recommendation of Korea method, it means sanitary management system get settled but more practical CCP system was needed. ATP bioluminescence assay was conducted on surface of food facilities, ATP ranged 425~2,552 RLU on gloves, 541~70,251 RLU on apron, 1,596~88,490 RLU on working desk, 1,177~263,813 RLU on sterilizer grip, 715~32,814 RLU on sterilizer shelf, 114~619,725 RLU on refrigerator grip, 677~319,007 RLU on refrigerator shelf, 71~196,725 RLU on freezer grip, 1,535~233,375 RLU on freezer shelf. APC ranged $66.7{\pm}29.0CFU$ on freezer grip, $102.1{\pm}35.9CFU$ on refrigerator grip, $45.4{\pm}28.2CFU$ on heating cabinet grip, $58.8{\pm}40.4CFU$ on sterilizer grip, the number of coliform group ranged $5.6{\pm}4.9CFU$ on freezer grip, $9.1{\pm}8.7CFU$ on refrigerator grip, $1.2{\pm}1.1CFU$ on heating cabinet grip, $4.5{\pm}4.4CFU$ on sterilizer grip. S. aureus ranged $8.0{\pm}5.6CFU$ on freezer grip, $12.2{\pm}9.6CFU$ on refrigerator grip, $2.1{\pm}1.6CFU$ on heating cabinet grip, $11.6{\pm}6.4CFU$ on sterilizer grip.

• Journal of Chest Surgery
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• 제13권1호
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• pp.21-25
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• 1980

This study was attempted to evaluate the effectiveness of cold cardioplegic solution [group B] compared with that of intermittent aortic cross clamping [group A]. 1. In group A, two dogs recovered spontaneous heart beat without using defibrillator and one case was used defibrillator once. In group B, four dogs recovered the spontaneous heart beat even without defibrillator and in one animal the defibrillator was used three times. 2. There was no significant difference in serum electrolyte [Na+, Ca2+, Cl- ] between group, but K+ level was decreased in both group. 3. The group A showed more increasing in serum LDH activity than group B. 4. The postoperative myocardial ATP level was $2.35{\pm}0.10$ ${\mu}$M/Gm. of wet weight in control group, $1.46{\pm}0.16$${\mu}$M/Gm. of wet weight in group A [60.2% of control group], and $1.80{\pm}0.14$${\mu}$M/Gm. of wet weight in group B [76.8% of control group].

• 대한기계학회논문집B
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• 제38권8호
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• pp.715-720
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• 2014

좌심실보조장치(LVAD)가 심실부하감소에 미치는 영향을 극대화 하기 위해, 심실보조장치 치료를 위한 최적의 심부전 심각도 단계를 찾는 것은 중요하다. 우리는 심부전 정도에 따른 LVAD 의 박동효율을 이론적으로 예측하였다. 우리는 혈관시스템의 6 컴파트먼트의 Wind-kessel 모델과 연동된 심실의 삼차원 유한요소모델을 사용하였다. 이 모델을 이용하여, LVAD 치료 하에서 심부전의 정도에 따라 심실의 수축성 ATP 소모율, 좌심실압력, 심박출량, 심박출 분획, 1 회심박출량 등과 같은 심장응답을 예측하였다. LVAD 치료 중에 에너지학적 부하조건을 암시하는 수축성 ATP 소모율은 5 단계 심부전 조건에서 가장 크게 감소하였다. 따라서, 우리는 LVAD 를 회복으로의 가교로서 고려하고 있을 때, 심부전 5 단계에서 LVAD 치료를 시작하는 것이 가장 적절하다는 결론을 내린다.

• Asian-Australasian Journal of Animal Sciences
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• 제25권2호
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• pp.194-199
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• 2012

Liver and pulmonary artery tissue from 5 Angus cross bred steers, 6 goats, and 6 pigs were collected at a commercial abattoir to examine the relationship of pulmonary artery copper (Cu) concentrations and genes involved in copper homeostasis. Liver and pulmonary artery samples were collected at the time of harvest and snap frozen. Liver and pulmonary artery Cu concentrations were determined via flame atomic absorption spectrophotometry and gene expression was determined via real time PCR. Liver Cu concentrations (mg Cu/kg DM${\pm}$SE) were higher (p<0.01) in cows ($396.4{\pm}109.1$) and goats ($181.4{\pm}37.0$) than in pigs ($19.2{\pm}3.5$). All liver Cu concentrations were within normal ranges and considered adequate for each species. Liver Cu concentration was more variable in cows and goats compared to pig liver Cu concentrations. Pulmonary artery ${\beta}$-hydroxylproline was higher (p<0.01) in cow and pig than goat. Real Time PCR revealed that goat liver atp7a was positively correlated ($r^2$ = 0.92; p<0.01) to liver Cu concentrations while cow and pig atp7a was not correlated to liver Cu concentration. In the pig, liver atp7a concentration was positively correlated to atp7b ($r^2$ = 0.66; p<0.05). Pulmonary artery Cu concentration was highest in cows ($14.9{\pm}4.7$), intermediate in pigs ($8.9{\pm}3.3$), and lowest in goats ($3.9{\pm}1.1$). Goat pulmonary artery Cu concentration was not correlated to ctr1 concentration, however, atp7a concentration was positively correlated with ctr1 ($r^2$ = 0.90; p<0.01). In cow pulmonary artery, loxl1 concentration was positively correlated to eln mRNA concentration ($r^2$ = 0.91; p<0.02). Pulmonary artery CTR1 protein concentration was positively correlated to pulmonary artery Cu ($r^2$ = 0.85; p = 0.03) concentration while negatively correlated to liver Cu ($r^2$ = -0.79; p<0.04). Pulmonary artery Cu concentration was not correlated to concentration of Cu homeostatic genes in the pig. These data indicate that genes involved in Cu homeostasis (ctr1, atp7A, atp7B, loxl1 and eln) are differently regulated in different species.