• Asian Pacific Journal of Cancer Prevention
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• v.16 no.12
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• pp.4915-4920
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• 2015

Background: : Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease mainly caused by mutations of the adenomatous polyposis coli (APC) gene with almost complete penetrance. These colorectal polyps are precancerous lesions that will inevitable develop into colorectal cancer at the median age of 40-year old if total proctocolectomy is not performed. So identification of APC germline mutations has great implications for genetic counseling and management of FAP patients. In this study, we screened APC germline mutations in Chinese FAP patients, in order to find novel mutations and the APC gene germline mutation characteristics of Chinese FAP patients. Materials and Methods: The FAP patients were diagnosed by clinical manifestations, family histories, endoscope and biopsy. Then patients peripheral blood samples were collected, afterwards, genomic DNA was extracted. The mutation analysis of the APC gene was conducted by direct polymerase chain reaction (PCR) sequencing for micromutations and multiplex ligation-dependent probe amplification (MLPA) for large duplications and/or deletions. Results: We found 6 micromutations out of 14 FAP pedigrees, while there were no large duplications and/or deletions found. These germline mutations are c.5432C>T(p. Ser1811Leu), two c.3926_3930delAAAAG (p.Glu1309AspfsX4), c.3921_3924delAAAA (p.Ile1307MetfsX13), c3184_3187delCAAA(p.Gln1061AspfsX59) and c4127_4126delAT (p.Tyr1376LysfsX9), respectively, and all deletion mutations resulted in a premature stop codon. At the same time, we found c.3921_3924delAAAA and two c.3926_3930delAAAAG are located in AAAAG short tandem repeats, c3184_3187delCAAA is located in the CAAA interrupted direct repeats, and c4127_4128 del AT is located in the 5'-CCTGAACA-3', 3'-ACAAGTCC-5 palindromes (inverted repeats) of the APC gene. Furthermore, deletion mutations are mostly located at condon 1309. Conclusions: Though there were no novel mutations found as the pathogenic gene of FAP in this study, we found nucleotide sequence containing short tandem repeats and palindromes (inverted repeats), especially the 5 bp base deletion at codon 1309, are mutations in high incidence area in APC gene,.

• Korean Journal of Fisheries and Aquatic Sciences
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• v.44 no.1
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• pp.18-24
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• 2011

This study investigated the physicochemical and enzymatic properties of unmarketable cultured bastard halibut (Paralichthys olivaceus) of different weights as a potential source of surimi and surimi gel. The proximate composition of cultured bastard halibut of different weights did not differ significantly at P<0.05 (light weight (LBH) 400~500 g, medium weight (MBH) 600~800 g, and heavy weight (HBH) > 1,000 g). Compared to Alaska pollock muscle, the bastard halibut muscle had a 4% higher crude protein content and 6% lower moisture content. The collagen content of LBH bastard halibut muscle was 1.58 g/100 g, which was lower than or no different from bastard halibut weighing different amounts. Regardless of fish weight or pH, the enzymatic activities of crude fish extracts ranged from 0.34~0.48 U/mg for casein and hemoglobin, 11.0~12.7 U/mg for LeuPNA, 5.4~6.1 U/mg for ArgPNA, 2.3~2.9 U/mg for SAAPFNA, and 0.1~0.2 U/mg for BAPNA. The yield of surimi gel from LBH was 24.4%, which was similar to that from MBH and lower than that from HBH. The surimi gel from LBH was similar to that from HBH, while weaker than that from MBH. The surimi gel from LBH gel was stronger than grade SA gel from commercial Alaska pollock.

• Korean Journal of Fisheries and Aquatic Sciences
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• v.44 no.3
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• pp.191-196
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• 2011

In this study, we investigated the chemical and enzymatic properties of unmarketable cultured bastard halibut (UCBH) Paralichthys olivaceus harvested at different times (March, May, July, September, November, and January), and we examined the physical properties of surimi gel from UCBH as a potential source of surimi and surimi gel. The moisture and crude protein contents of UCBH harvested in July and January were >78% and <19%, respectively, which is greater than the moisture content in UCBH harvested in May, March, and September, but lower than the crude protein content. Regardless of the month of harvest, the UCBH had a higher crude protein content than Alaska pollock, which is the largest fishery biomass used for surimi and surimi gel, but a lower moisture content. Regardless of the month of harvest, the enzymatic activity in crude extracts of UCBH muscle ranged from 0.31-0.59 U/mg for casein (pH 6.0 and 9.0) and 11.7-12.7 U/mg for LeuPNA. These findings suggest that autolytic enzymes were unaffected by gel formation. Gel strength was highest in the surimi gel prepared from UCBH harvested in September, November, and January; second highest in that prepared from UCBH harvested in March and May; and lowest in that prepared from UCBH harvested in July. Compared to the gel strength of surimi gel from grade SA commercial Alaska pollock surimi, the strength of the surimi gels prepared from UCBH harvested in March, May, September, November, and January were superior, whereas that of the surimi gel prepared from UCBH harvested in July was similar.

• Korean Journal of Fisheries and Aquatic Sciences
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• v.50 no.6
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• pp.694-706
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• 2017

This study evaluated the protein recovery, functional properties and biological activity of isolate processed water (IPW) generated in the preparation of protein isolates from fish roes (BH, bastard halibut Paralichthys olivaceus; ST, skipjack tuna Katsuwonus pelamis; YT, yellowfin tuna Thunnus albacares) by an isoelectric solubilization and precipitation process. The IPWs contained 2.7-5.4 mg/mL of protein, and the protein losses were 8-21% (P<0.05). The form capacity of IPW-3 for BH and ST, and IPW-4 for YT was 155, 194, and 164%, respectively. The emulsifying activity index ($27-43m^2/g$) of the YT-IPWs was the strongest, followed by ST ($7-29m^2/g$) and BH ($10-19m^2/g$). The 2,2-diphenyl-1-picrylhydrazyl scavenging activities of IPW-1 and -3 were higher than those of IPW-2 and -4. The 2,2'-azino-bis-3-ethylbenzothiazoline-6-sulfonic acid scavenging activity ($IC_{50}$, mg/mL) of IPW-2 and -4 was 0.03 mg/mL for BH, 0.04-0.08 mg/mL for ST, and 0.04-0.07 mg/mL for YT. BH IPW-3 had the strongest reducing power (0.41 mg/mL) and superoxide dismutase-like activity (1.68 mg/mL). The angiotensin-I converting enzyme inhibitory activity of IPW-3 was the highest for ST (1.52 mg/mL), followed by BH and YT. The common predominant amino acids in the IPWs were the essential amino acids Val, Leu, Lys, and Arg and the non-essential amino acids Ser, Glu, and Ala.

• Korean Journal of Fisheries and Aquatic Sciences
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• v.51 no.3
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• pp.230-237
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• 2018

This study investigated the food and nutritional characteristics of alkaline-insoluble fractions (AIFs) recovered from bastard halibut Paralichthys olivaceus (BH) and skipjack tuna Katsuwonus pelamis (ST) roes using the alkaline solubilization. The moisture content of AIFs ranged from 4.8% to 12.8%, and ST provided significantly better yields (9.5 for STAIF-11 and 7.1 g/100 g roe for STAIF-12) than did BH (P<0.05). The protein content of AIFs ranged from 71.7% to 79.2%, with the highest level yielded by STAIF-11 (6.8 g/100 g roe). The crude fat content of AIFs was 10.9-14.3% and the mineral content was 0.7-3.4%. The major mineral components of AIFs were sulfur, sodium, potassium, and phosphorus. Color values showed that BHAIFs were significantly brighter than STAIFs. Total contents of essential amino acids were significantly higher in STAIFs (47.5-49.5%) than in BHAIFs. The major essential amino acids found in AIFs from both sources were Val, Leu, Lys, and Arg. Therefore, AIFs were significantly superior to whole BH roe in terms of physicochemical and nutritional status, and we identified species-specific differences between BH and ST. Protein is a major component of AIFs recovered from fish roes, which suggests that they have potential for use as a protein source.

• Clinical and Experimental Pediatrics
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• v.57 no.1
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• pp.50-53
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• 2014

Hemophagocytic lymphohistiocytosis (HLH) occurs in the primary form (genetic or familial) or secondary form (acquired). The familial form of HLH (FHL) is a potentially fatal autosomal recessive disorder that occurs because of constitutional defects in cell-mediated cytotoxicity. Here, we report a fatal neonatal case of type 2 FHL (FHL2) that involved a novel frameshift mutation. Clinically, the newborn presented with severe sepsis-like features and required mechanical ventilation and continuous venovenous hemodiafiltration. Flow cytometry analysis showed marked HLH and complete absence of intracytoplasmic perforin expression in cytotoxic cells; therefore, we performed molecular genetic analyses for PRF1 mutations, which showed that the patient had a compound heterozygous mutation in PRF1, that is, c.65delC ($p.Pro22Argfs^*2$) and c.1090_1091delCT ($p.Leu364Glufs^*93$). Clinical and genetic assessments for FHL are required for neonates with refractory fever and progressive multiple organ failure, particularly when there is no evidence of microbiological or metabolic cause.

• Proceedings of the Korean Information Science Society Conference
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• 2007.06b
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• pp.273-278
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• 2007

검사점 및 복구 도구(Checkpointing & Recovery Facility)를 이용하여 임베디드 시스템에서 결함 허용(Fault Tolerance) 기법을 적용할 경우 쓰기 작업의 오버헤드로 인해 실용성이 크게 떨어지게 된다. 실시간 운영체제와 함께 어떠한 한계 상황에서 결함 허용 및 복구 도구가 오히려 시스템의 성능을 저하시키는 요인으로 작용하게 되면 이는 결국 쓸모없는 도구가 되어 사용되지 않을 것이다. 따라서 프로세스의 복구를 위해 저장하는 프로세스 이미지의 기록에 소요되는 시간을 크게 낮추어야만 비로소 검사점 도구가 그 진가를 발휘하게 될 수 있다. 본 논문에서는 NVSRAM(Non Volatile SRAM)을 검사점 및 복구 도구의 저장 장치로 활용함으로써 기존의 검사점 도구에서 성능을 저하시키는 주원인이었던 검사점 기록의 오버헤드를 개선하기 위한 연구를 수행하였다. 검사점 기록 시간을 줄이기 위한 방법으로 주 메모리에 저장된 프로세스의 복구와 관련된 데이터를 SRAM 특성을 갖는 비휘발성 저장 장치인 NVSRAM에 저장하여 디스크 접근에 소요되는 시간을 최소화시킴으로써 임베디드 시스템에서 실용적으로 사용 가능한 검사점 도구를 구현하였고, 이러한 연구의 결과를 검증하기 위해 기존 시스템에서 저장 장치로 사용되던 플래시 메모리, 주 메모리, 원격 메모리를 사용하는 경우의 성능과 NVSRAM을 활용할 때의 성능을 비교해 보았다. 본 연구에서 제안하는 결함 허용 도구는 실제 시스템에 적용하여 효과적인 성능을 발휘할 수 있을 것이며, 차세대 메모리를 이용한 결함 허용 도구의 연구에 기여를 할 수 있을 것으로 기대된다.ate첨가배지(添加培地)에서 가장 저조(低調)하였다. vitamin중(中)에서는 niacin과 thiamine첨가배지(添加培地)에서 근소(僅少)한 증가(增加)를 나타내었다.소시켜 항이뇨 및 Na 배설 감소를 초래하는 작용과, 둘째는 신경 경로를 통하지 않고, 아마도 humoral factor를 통하여 신세뇨관에서 Na 재흡수를 억제하는 작용이 복합적으로 나타내는 것을 알 수 있었다.으로 초래되는 복합적인 기전으로 추정되었다., 소형과와 기형과는 S-3에서 많이 나왔다. 이상 연구결과에서 입도분포가 1.2-5mm인 것이 바람직한 것으로 나타났다.omopolysaccharides로 확인되었다. EPS 생성량이 가장 좋은 Leu. kimchii GJ2의 평균 분자량은 360,606 Da이었으며, 나머지 두 균주에 대해서는 생성 EPS 형태와 점도의 차이로 미루어 보아 생성 EPS의 분자구조와 분자량이 서로 다른 것으로 판단하였다.TEX>개로 통계학적으로 유의한 차이가 없었다. Heat shock protein-70 (HSP70)과 neuronal nitric oxide synthase (nNOS)에 대한 면역조직화학검사에서 실험군 Cs2군의 신경세포가 대조군 12군에 비해 HSP70과 nNOS의 과발현을 보였으며, 이는 통계학적으로 유의한 차이를 보였다(p<0.05). nNOS와 HSP70의 발현은 강한 연관성을 보였고(상관계수 0.91, p=0.000), nNOS를 발현하는 세포가 동시에 HSP70도 발현함을 확인할 수 있었다. 결론: 우리는 cyclosporin A가 토끼의 25분간의 척수허혈에 대해 척수보호 효과가 있었으며 이는 HSP70의

• Biomedical Science Letters
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• v.6 no.1
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• pp.11-17
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• 2000

SNAP-25 was first investigated as a neuron-specific protein preferentially expressed in CA3 pyramidal neurons of mouse hippocampus. It is a presynaptic plasma membrane protein in the nerve cell and plays an important role in the synaptic vesicle membrane docking and fusion pathway. We have recently isolated SNAP-25 cDNA from a rat brain cDNA library using a probe of Z2 cDNA. It consisted of 2,101 bp and an open reading frame (ORF) was identified between nucleotides (nt) 209 and 827. The AUG codon (nt 209∼211) was surrounded by CTACCATGG, which corresponded to the consensus sequence of ribosomal binding site. The ORF was terminated by TAA (nt 827∼829) to encode a polypeptide of 206 amino acid residues. The 3'-untranslated region contained two extensive stretches of repeated (CA)28 and (CA)19 at positions 925∼980 and 1645∼1682. It is noteworthy that cysteine residues were clustered in the span of amino acid residues 84∼991 : Cys-Gly-Leu-Cys-Val-Cys-Pro-Cys. Rat SNAP-25 showed 88% and 97% identity in nucleotide sequences to that of human and mouse, respectively. Amino acid sequence of rat SNAP-25 showed 100% identity to that of mouse and human SNAP-21.

• Journal of the Korean Society of Food Science and Nutrition
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• v.13 no.4
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• pp.451-458
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• 1984

The effects of branched chain amino acids added to a diet on changes in the body weight with or without liver, moist and dry liver weight, protein, DNA, $^3H-thymidine$ incorporation into DNA, ana mitotic index of regenerating liver were studied in partial hepatectomized rat. Experimental diet was a 14.63% casein diet supplemented with 1.49% L-leucine, 0.90% L-isoleucine and 0.98% L-Valine, and control diet was an 18.0% casein. In both diets, 2.54% nitrogen were included. Rats fed experimental diet were significantly increased body weight with or without liver 7 days, and regenerated weight of dry liver and an index of liver regeneration 5 days after partial hepatectomy. Mitotic index, contents of protein and DNA increased in regenerating liver after partial hepatectomy was higher in experimental diet group. This results suggest that branched chain amino acids have an benefitial effect on whole body as well as liver regeneration after partial hepatectomy in rat.

• Korean Journal of Fisheries and Aquatic Sciences
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• v.43 no.6
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• pp.598-605
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• 2010

This study investigated the physicochemical and enzymatic properties of unmarketable bastard halibut (Paralichthys olivaceus) cultured in different regions (i.e., Jeju, Wando, and Geoje) as a potential source of surimi and surimi gel. The proximate composition of unmarketable bastard halibut cultured in different regions did not differ significantly at P<0.05. Compared to Alaska pollock muscle, all of the unmarketable bastard halibut muscle had a 4% higher crude protein content and 5% lower moisture content. The collagen content of bastard halibut muscle cultured in Jeju was 1.96 g/100 g, which was higher than in fish cultured in other regions. Regardless of the region where cultured or pH, the enzymatic activities of the crude extracts from unmarketable bastard halibut muscle ranged from 0.30.0.48 U/mg for casein and hemoglobin, 11.9.13.7 U/mg for LeuPNA, 5.6.6.7 U/mg for ArgPNA, 2.8.4.7 U/mg for SAAPFNA, and 0.1.0.2 U/mg for BAPNA. Regardless of region, no mercury or lead was found in any of the unmarketable bastard halibut muscle, except for lead in fish cultured in Geoje. The strength of surimi gels from unmarketable bastard halibut cultured in Jeju, Geoje, and Wando was 1059, 988, and 900 g${\times}$cm, respectively. The surimi gel from unmarketable bastard halibut cultured in Jeju was stronger than commercial Alaska pollock surimi, which was grade SA.