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Diagnostic exome sequencing을 통한 KBG 증후군의 조기 진단 (Early Diagnosis of KBG Syndrome Using Diagnostic Exome Sequencing)

  • 홍준호;김세희;이승태;최종락;강훈철;이준수;김흥동
    • 대한소아신경학회지
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    • 제26권4호
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    • pp.272-275
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    • 2018
  • KBG 증후군은 특징적인 얼굴 기형 및 발달 장애, 저 신장 등을 보이는 희귀한 질환이며, ANKRD11유전자의 변이가 KBG 증후군을 일으킨다고 알려져 있다. 그 임상 양상의 스펙트럼은 넓은 편이며, 발달 장애와 신경학적 이상의 경우 개인마다 다양한 정도로 보고되고 있다. 본 증례의 환자들 역시 서로 다른 정도의 발달 장애를 보였으며, 그 중 더 심한 정도의 발달 장애를 가진 환자에서는 뇌전증이 동반되었다. 기존의 KBG증후군의 진단 기준에서 macrodontia는 매우 중요한 요소였으며, 대부분의 KBG 증후군 환자에서 나타난다고 보고되었다. 본 증례의 환자들은 발달장애를 보여 시행한 diagnostic exome sequencing을 통해 ANKRD11 유전자 이상을 확인하였지만 macrodontia는 관찰되지 않았다. 이는 KBG 증후군이 현재까지 밝혀진 것 보다 더 흔할 수 있으며, 특징적인 얼굴 기형이 없는 경우에도 발달장애가 있는 환자들에서는 더욱 적극적인 유전자 검사를 시행하여 KBG 증후군을 진단 할 필요가 있음을 시사한다.

염생식물인 갯끈풀과 갯메꽃 추출물의 HaCaT 세포에서 피부 보습 및 피부 장벽 기능에 미치는 영향 (Effect of Halophyte (Spartina anglica and Calystegia soldanella) Extracts on Skin Moisturizing and Barrier Function in HaCaT Cells)

  • 하유나;정재우;이원휘;오준혁;김연정
    • 한국해양생명과학회지
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    • 제6권2호
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    • pp.58-65
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    • 2021
  • 노화가 진행될수록 활성산소종으로 인하여 피부 보습은 떨어지고 피부 장벽은 붕괴되어 피부가 손상된다. 본 연구에서는 인천 동막 해변에 서식하는 염생식물인 갯끈풀(Spartina anglica; SAE)과 갯메꽃(Calystegia soldanella; CSE)을 70% 에탄올(EtOH)로 추출하여 피부 보습 및 피부 장벽 기능 강화에 대한 효능을 평가하였다. 이 추출물들에 대한 피부 각질형성세포(HaCaT cell)에서 세포독성을 WST-8 assay를 이용하여, 세포 생존율이 90% 이상을 보이는 농도를 선별하여 추가 실험을 진행하였다. ABTS 라디칼 소거능을 통해 항산화 효과를 확인한 결과, SAE와 CSE는 높은 라디칼 소거능을 보였다. 피부 보습과 관련된 인자들인 filaggrin (FGL), aquaporin 3(AQP3), hyaluronan synthase 2 (HAS2)과 피부 장벽 기능과 연관 있는 transglutaminase 1 (TGM1)과 involucrin (INV)의 유전자 수준에서의 발현 변화를 측정한 결과, SAE에 의해 AQP3, HAS2, TGM1의 발현이 증가하였으나, CSE는 변화가 없는 것을 확인할 수 있었다. SAE에 의한 세포 내 신호전달 경로를 확인하기 위해 western blot 분석을 수행하였다. Extracellular signal regulated kinase (ERK), c-Jun N-terminal kinase (JNK) and p38 mitogen activated protein kinase의 활성이 SAE에 의하여 상향 조절되었음을 확인하였다. 이러한 결과는 갯끈풀 추출물이 피부 보습 및 피부 장벽 기능 강화를 위한 화장품의 기능성 소재로 사용될 수 있음을 시사한다.

Ginsenoside Rg1 alleviates Aβ deposition by inhibiting NADPH oxidase 2 activation in APP/PS1 mice

  • Zhang, Han;Su, Yong;Sun, Zhenghao;Chen, Ming;Han, Yuli;Li, Yan;Dong, Xianan;Ding, Shixin;Fang, Zhirui;Li, Weiping;Li, Weizu
    • Journal of Ginseng Research
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    • 제45권6호
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    • pp.665-675
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    • 2021
  • Background: Ginsenoside Rg1 (Rg1), an active ingredient in ginseng, may be a potential agent for the treatment of Alzheimer's disease (AD). However, the protective effect of Rg1 on neurodegeneration in AD and its mechanism of action are still incompletely understood. Methods: Wild type (WT) and APP/PS1 AD mice, from 6 to 9 months old, were used in the experiment. The open field test (OFT) and Morris water maze (MWM) were used to detect behavioral changes. Neuronal damage was assessed by hematoxylin and eosin (H&E) and Nissl staining. Immunofluorescence, western blotting, and quantitative real-time polymerase chain reaction (q-PCR) were used to examine postsynaptic density 95 (PSD95) expression, amyloid beta (Aβ) deposition, Tau and phosphorylated Tau (p-Tau) expression, reactive oxygen species (ROS) production, and NAPDH oxidase 2 (NOX2) expression. Results: Rg1 treatment for 12 weeks significantly ameliorated cognitive impairments and neuronal damage and decreased the p-Tau level, amyloid precursor protein (APP) expression, and Aβ generation in APP/PS1 mice. Meanwhile, Rg1 treatment significantly decreased the ROS level and NOX2 expression in the hippocampus and cortex of APP/PS1 mice. Conclusions: Rg1 alleviates cognitive impairments, neuronal damage, and reduce Aβ deposition by inhibiting NOX2 activation in APP/PS1 mice.

현토단(玄兎丹)의 RAW 264.7 대식 세포에서의 항염증 효과에 관한 연구 (The study of anti-inflammatory effect of Hyeonto-dan extract in RAW 264.7 macrophage)

  • 김마룡;강옥화;공룡;서윤수;주전;김상아;김은수;신민아;이영섭;권동렬
    • 대한본초학회지
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    • 제32권2호
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    • pp.77-85
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    • 2017
  • Objectives : This study aimed to investigate the unknown mechanisms behind the anti- inflammatory activity of Hyeonto-dan(HT) 70% ethanol extract on LPS-stimulated RAW 264.7 cells. Methods : Cells were treated with Hyeonto-dan 1 h prior to addition of 200 ng/mL of LPS. Cell viability was measured by the MTS assay. Nitric oxide levels were determined by the Griess assay. $PGE_2$ were measured using EIA kit. Pro-inflammatory cytokine production was measured by the enzyme-linked immunosorbent assay (ELISA). The expression of COX-2, iNOS, and MAPKs was investigated by Western blot, qRT-PCR. $NF-{\kappa}B$/p65 localization and interaction of the TLR-4 receptor with LPS was examined by immunofluorescence assays. Results : Hyeonto-dan had no cytotoxicity at the measured concentration. Hyeonto-dan inhibited NO production and pro-inflammatory cytokines such as IL-6, $TNF-{\alpha}$, and PGE2 as well as the protein and mRNA expression of iNOS and COX-2. Moreover, Hyeonto-dan inhibited the interaction between LPS and TLR-4 in murine macrophages. It suppressed phosphorylation of extracellular signal-regulated kinase (ERK 1/2), c-jun N-terminal kinase (JNK 1/2) and p38. Finally, it inhibited translocation of $NF-{\kappa}B$ in response to competitive LPS. Conclusions : Based on the results of this study, Hyeonto-dan inhibited the binding of TLR-4 receptor to LPS and inhibited the phosphorylation of extracellular signaling pathway MAPKs. These inhibitory effects are thought that the amount of $NF-{\kappa}B$ delivered to the nucleus was decreased and the inflammatory reaction was prevented by decreasing the production of LPS-induced $PGE_2$, NO, IL-6 and $TNF-{\alpha}$.

난온대 기후대의 상록활엽수림 복원 모니터링(III) (Monitoring the Restoration of Evergreen Broad-Leaved Forests in the Warm-Temperate Region(III))

  • 강현미;강지우;김지해;성찬용;박석곤
    • 한국환경생태학회지
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    • 제36권1호
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    • pp.87-101
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    • 2022
  • 난온대 상록활엽수림의 변화과정을 장기 모니터링하기 위해 1996년 완도수목원에 설치된 16개 고정조사구(시험구, 대조구)를 대상으로 식생구조 변화를 분석했다. 특히 1996년도 복원기법으로 도입한 시험처리(솎아베기, 식물도입)가 식생 발달에 미친 영향을 심도 있게 논의했다. 교목층에 붉가시나무가 우점한 군락(고정조사구 1~3)에서는 이 종의 평균상대우점치(MIP)가 줄고, 외부에서 들어온 상록활엽수종의 MIP가 늘어나 장래 식생구조 변화가 예상된다. 붉가시나무-낙엽활엽수림(고정조사구 5, 7), 소나무림(고정조사구 9, 10)에서도 상록활엽수종의 세력 확장이 확인됐다. 솎아베기를 시행했던 시험구에서 조류 피식 산포형인 생달나무, 참식나무, 후박나무 등의 종 유입과 상록활엽수종의 세력 확장이 두드러져, 난온대림 식생 발달을 촉진하는데 유효했다고 본다. 시험구에 상록활엽수종을 심어 식생구조 변화를 꾀했지만, 식재 수량이 적어 식생구조 변화에 끼친 영향이 미약했던 것으로 보인다. 다른 식생유형보다 소나무림은 소나무, 곰솔의 쇠퇴에 따른 상록활엽수림으로의 식생구조 변화가 뚜렷했다.

자어기 넙치(Paralichthys olivaceus)의 사육 밀도에 따른 기형 발생과 스트레스 및 면역 유전자 발현 분석 (Effects of Rearing Density Stress on Malformation and Stress and Immune Related Gene Expression of Juvenile Olive Flounder Paralichthys olivaceus)

  • 이상현;박종원;정민환;정효선;김주란;김우진;이정호;이다인
    • 한국수산과학회지
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    • 제56권4호
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    • pp.380-387
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    • 2023
  • Stocking density is associated with Paralichthys olivaceus growth; thus, fish should be rapidly reared at high densities for commercial reasons. Studies have reported that high stocking density retards growth; however, few have investigated the malformations caused by stocking density stress. This study compared the growth and malformation rates of P. olivaceus at different densities and stress- and immune-related gene expression between malformed and normal fish. Forty days post-hatching, fish (total length, 1.49±0.02 cm) were reared at 800 (low density; LD), 1500 (medium density; MD), and 4000 (high density; HD) fish/m2, and the growth rate was measured weekly. On day 30, RNA was extracted from the kidneys, and the expression of stress-, immune-, and malformation-related genes was analyzed using qRT-PCR. The malformation rate in the HD groups was approximately three times higher (62%) than that in the LD and MD groups (approximately 20%), and growth was lower regarding length and weight. The stress-related (HSP70 and GPX) and immune-related (PIR and IgM) genes showed higher mRNA expression in the HD group and malformed fish than in the LD group and normal fish. However, TLR3 showed the opposite results. In summary, high stocking density suppressed growth and increased malformation risk in P. olivaceus.

Ginsenoside Rg1 treatment protects against cognitive dysfunction via inhibiting PLC-CN-NFAT1 signaling in T2DM mice

  • Xianan Dong ;Liangliang Kong ;Lei Huang ;Yong Su ;Xuewang Li;Liu Yang;Pengmin Ji ;Weiping Li ;Weizu Li
    • Journal of Ginseng Research
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    • 제47권3호
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    • pp.458-468
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    • 2023
  • Background: As a complication of Type II Diabetes Mellitus (T2DM), the etiology, pathogenesis, and treatment of cognitive dysfunction are still undefined. Recent studies demonstrated that Ginsenoside Rg1 (Rg1) has promising neuroprotective properties, but the effect and mechanism in diabetes-associated cognitive dysfunction (DACD) deserve further investigation. Methods: After establishing the T2DM model with a high-fat diet and STZ intraperitoneal injection, Rg1 was given for 8 weeks. The behavior alterations and neuronal lesions were judged using the open field test (OFT) and Morris water maze (MWM), as well as HE and Nissl staining. The protein or mRNA changes of NOX2, p-PLC, TRPC6, CN, NFAT1, APP, BACE1, NCSTN, and Ab1-42 were investigated by immunoblot, immunofluorescence or qPCR. Commercial kits were used to evaluate the levels of IP3, DAG, and calcium ion (Ca2+) in brain tissues. Results: Rg1 therapy improved memory impairment and neuronal injury, decreased ROS, IP3, and DAG levels to revert Ca2+ overload, downregulated the expressions of p-PLC, TRPC6, CN, and NFAT1 nuclear translocation, and alleviated Aβ deposition in T2DM mice. In addition, Rg1 therapy elevated the expression of PSD95 and SYN in T2DM mice, which in turn improved synaptic dysfunction. Conclusions: Rg1 therapy may improve neuronal injury and DACD via mediating PLC-CN-NFAT1 signal pathway to reduce Aβ generation in T2DM mice.

The Philippines Coconut Genomics Initiatives: Updates and Opportunities for Capacity Building and Genomics Research Collaboration

  • Hayde Flandez-Galvez;Darlon V. Lantican;Anand Noel C. Manohar;Maria Luz J. Sison;Roanne R. Gardoce;Barbara L. Caoili;Alma O. Canama-Salinas;Melvin P. Dancel;Romnick A. Latina;Cris Q. Cortaga;Don Serville R. Reynoso;Michelle S. Guerrero;Susan M. Rivera;Ernesto E. Emmanuel;Cristeta Cueto;Consorcia E. Reano;Ramon L. Rivera;Don Emanuel M. Cardona;Edward Cedrick J. Fernandez ;Robert Patrick M. Cabangbang;Maria Salve C. Vasquez;Jomari C. Domingo;Reina Esther S. Caro;Alissa Carol M. Ibarra;Frenzee Kroeizha L. Pammit;Jen Daine L. Nocum;Angelica Kate G. Gumpal;Jesmar Cagayan;Ronilo M. Bajaro;Joseph P. Lagman;Cynthia R. Gulay;Noe Fernandez-Pozo;Susan R. Strickler;Lukas A. Mueller
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2022년도 추계학술대회
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    • pp.30-30
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    • 2022
  • Philippines is the second world supplier of coconut by-products. As its first major genomics project, the Philippine Genome Center program for Agriculture (PGC-Agriculture) took the challenge to sequence and assemble the whole coconut genome. The project aims to provide advance genetics tools for our collaborating coconut researchers while taking the opportunity to initiate local capacity. Combination of different NGS platforms was explored and the Philippine 'Catigan Green Dwarf' (CATD) variety was selected with the breeders to be the crop's reference genome. A high quality genome assembly of CATD was generated and used to characterize important genes of coconut towards the development of resilient and outstanding varieties especially for added high-value traits. The talk will present the significant results of the project as published in various papers including the first report of whole genome sequence of a dwarf coconut variety. Updates will include the challenges hurdled and specific applications such as gene mining for host insect resistance and screening for least damaged coconuts (thus potentially insect resistant varieties). Genome-wide DNA markers as published and genes related to coconut oil qualitative/quantitative traits will also be presented, including initial molecular/biochemical studies that support nutritional and medicinal claims. A web-based genome database is currently built for ease access and wider utility of these genomics tools. Indeed, a major milestone accomplished by the coconut genomics research team, which was facilitated with the all-out government support and strong collaboration among multidisciplinary experts and partnership with advance research institutes.

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초음파 주파수 및 반응조건 변화에 따른 나프탈렌 분해효율과 OH 라디칼의 발생량 비교 (Comparison of Naphthalene Degradation Efficiency and OH Radical Production by the Change of Frequency and Reaction Conditions of Ultrasound)

  • 박종성;박소영;오재일;정상조;이민주;허남국
    • 대한환경공학회지
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    • 제31권2호
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    • pp.79-89
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    • 2009
  • 나프탈렌은 휘발성이 있는 소수성 물질로 발암유발 가능성이 있고, 수생태계에 심각한 영향을 미친다. 본 연구는 초음파의 주파수 및 반응조건별 나프탈렌 분해효율과 OH 라디칼 변화량을 조사하였다. C-18 역상칼럼을 이용한 LC/FLD (1200 series, Agilent)로 나프탈렌을 분석한 결과 MDL (Method detection limit)은 0.01 ppm이었다. 초음파 조사동안 휘발된 나프탈렌은 거의 검출되지 않았고(0.05 ppm 이하), 반응조 덮개 개폐별 나프탈렌 분해효율은 거의 차이를 보이지 않았다(1% 이내). 초음파 반응온도가 증가할수록 나프탈렌 제거효율은 감소하는 경향($15^{\circ}C$: 95% ${\rightarrow}$ $40^{\circ}C$: 85%)을 보였고, pH가 낮을수록 나프탈렌 분해효율이 증가(pH 12: 84% ${\rightarrow}$ pH 3: 95.6%)하였다. 나프탈렌 초기농도의 감소에 따라 반응속도는 증가하는 경향을 보여주었다(2.5 ppm: $27.3{\times}10^{-3}\;min^{-1}$, 5 ppm: $27.3{\times}10^{-3}\;min^{-1}$, 10 ppm : $19.0{\times}10^{-3}\;min^{-1}$). 동일한 초음파 조건(2.5 ppm 나프탈렌, 0.075 W/mL, $20^{\circ}C$, pH 6.8)에서 28 kHz의 분해효율이 132 kHz보다 약 1.46배 높았고(132 kHz: 56%, 28 kHz: 82.7%), 유사 일차반응 속도상수($k_1$)도 약 2.3배 높게 나타났다(132 kHz: $2.4{\times}10^{-3}\;min^{-1}$, 28 kHz: $5.0{\times}10^{-3}\;min^{-1}$). 초음파 조사 10분 후 $H_2O_2$ 농도는 132 kHz가 28 kHz보다 약 7.2배 높았지만(132 kHz: 0.36 ppm, 28 kHz: 0.05 ppm), 조사 90분 후에는 28 kHz가 132 kHz보다 1.1배 높았다(28 kHz: 0.45 ppm, 132 kHz: 0.4 ppm). 2.5 ppm 나프탈렌 용액에 132 kHz와 28 kHz 초음파 조사시 발생된 $H_2O_2$ 농도는 초순수에 초음파 조사한 결과보다 각각 0.1 ppm과 0.05 ppm씩 낮게 나타났다. 혼형(24 kHz)과 배스형(28 kHz) 초음파의 나프탈렌 분해효율은 각각 87%와 82.7%였고, $k_1$$22.8{\times}10^{-3}\;min^{-1}$$18.7{\times}10^{-3}\;min^{-1}$로 산출되었다. 다주파 복합형 초음파 시스템(28 kHz 배스형 + 24 kHz 혼형 초음파)의 나프탈렌 분해효율은 단일주파수 24 kHz(혼형)와 비슷한 제거효율을 보였으나(88%), $H_2O_2$의 농도는 약 3.5배 높게 조사되었다(28 kHz + 24 kHz: 2.37 ppm, 24 kHz: 0.7 ppm). 이와 같은 다주파 복합형 초음파 시스템은 OH 라디칼에 의해 산화가 잘 일어나는 물질의 분해에 매우 효과적으로 적용될 수 있을 것으로 예상된다.

양식해태의 유통에 관한 조사 연구 (A Study on Marketing of Cultured Laver Products)

  • 유충열
    • 수산경영론집
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    • 제4권1_2호
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    • pp.19-57
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    • 1973
  • Laver io one of the most necessary and seasonal items in Korean food from oldtimes. Laver is lagely eaten in dried form, and its supply depends entirely upon culture weeds. The history of laver culture in Korea about sixty or seventy years is older than in Japan. Significance of laver culture is divided into two aspects, one is food supply in the nation, and the other is export to other countries. Houses engaged in laver culture are about foully thousands, and laver production in 1972 is estimated as 1, 3 bitten sheets. (1 sheet is a dried laver of 20 cm sq, in the shape of paper) Especcially meaning of layer production is the concentration of labour input, and systematic management of labour. From around 1920, the method of laver culture was introduced by Japanese Imperialism for mono culture in shallow seas, and mass products of laver is provided to Japan market, DOMESTIC MARKET Fundamental consume function calculates at below, $D_{(68_71)}$=16354 $Y^{0.471}$ $P^{-1.0662}$ where D is total layer demand, Y income variable, P price variable. It means income elasticity is 476. in the whole country, and price elasticity is 1, 07. But generally income elasticity is higher in urban area than in rural area, as shown at 1, 3 in Seoul city. Expence of laver in house expenditure is mutually correlated with another expence, See Table 12 about the relative function. See Table 14 and 16 about the relation between the gathering and the changes of price in auction, wholesale and retail price support system is for two effects, one of which is constraint of the upper price, the other is rise of the lower price. Before the system control, the equation in three year average calculated as below, $Y_{b}$ =18, 907.7455+15435.9364 t (r=0.89) where the origin t=0 is the November and the units are month. Post the system control, $Y_{p}$ =30, 047.9636+1, 631.1721t (r=0.97) therefore, this system has an effect only on the rise of lower price, Average annual margins of laver products at four market levels according to the consumer spent is below. EXPORTING MARKET Japanese demand function of laver products is, Log D=5, 289+1, 108 Log Y-1, 395 Log P (r=0.987) where D is Japanese laver demand, Y income variable, P price variable. according to which income elasticity is 1. 1 and price elasticity is 1.4. Laver production in 1970 tile highest record till then, is estimated as six billion sheets. But the recent improvement of laver culture techniques, the production of seeds and freezing storage of seeds has been stabilized. Futher new culture farms have been developed by means of break- water fences or by floating culture method. These improvements have been backed up with increased demand of laver products. Import quantity and price of Korean laver products are restrained by three organizations, that is producer, distributor and consumer. This relationship calculated by regression equation shows that import is influenced only producer organization, at the sacrifice of consumer profit. For increase to export of laver products, we urgently require to open foreign trade of laver products for Japanese consumer, .and Japan has political responsibility to solve Korean laver structure. But with long run timeseries, as regards Japanese production and import quantity, importing function shows increasing trend as below, 250 million sheets <3, 947.1674+0.005 $L_{g}$ >) 600 million sheets where $L_{q}$ is relative production quantity of laver in Japan. (unit; 100 thousand sheets) Our Export effort should be put on the highly processed products whithin the restraind quote.ote.

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