• 제목/요약/키워드: ACAN

검색결과 9건 처리시간 0.031초

Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature

  • Kim, Yoo-Mi;Cheon, Chong Kun;Lim, Han Hyuk;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • 제15권2호
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    • pp.102-106
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    • 2018
  • Aggrecan is a proteoglycan in the extracellular matrix of growth plate and cartilaginous tissues. Aggrecanopathy has been reported as a genetic cause not only for severe skeletal dysplasia but also for autosomal dominant short stature with normal to advanced bone age. We report a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature identified through targeted exome sequencing. We present a girl of 4 years and 9 months with a family history of short stature over three generations. The paternal grandmother is 143 cm tall (-3.8 as a Korean standard deviation score [SDS]), the father 155 cm (-3.4 SDS), and the index case 96.2 cm (-2.9 SDS). Evaluation for short stature showed normal growth hormone (GH) peaks in the GH provocation test and a mild delayed bone age for chronological age. This subject had clinical characteristics including a triangular face, flat nasal bridge, prognathia, blue sclerae, and brittle teeth. The targeted exome sequencing was applied to detect autosomal dominant growth palate disorder. The novel variant c.910G>A (p.Asp304Asn) in ACAN was identified and this variant was found in the subject's father using Sanger sequencing. This is the first case of Korean familial short stature due to ACAN mutation. ACAN should be considered for proportionate idiopathic short stature, especially in cases of familial short stature.

Acceleration of Cell Proliferation and Gene Expression in Human Chondrosarcoma Cells Stimulated by Strong Pulse Magnetic Field

  • Shin, Sung Chul;Chung, Eui Ryong;Hwang, Do Guwn
    • Journal of Magnetics
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    • 제18권1호
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    • pp.14-20
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    • 2013
  • For the treatment of osteoarthritis, pulsed electromagnetic field stimulus has been suggested as a useful therapeutic method in rehabilitative medicine. Most studies have been performed under low-frequency and low-energy to find out biological properties for stimulating chondrocyte with pulsed magnetic field. In this study, the effect of strong pulse magnetic field on the human chondrosarcoma cells (SW-1353) has been investigated by means of cell counting, morphologies, and gene expression of cartilage extracellular matrix genes. The SW-1353 cells were exposed under the field intensities of 270, 100, 55, 36, and 26 mTesla during 6 hours a day in 5 consecutive days. The pulse magnetic field with an LRC oscillating signal has the pulse width of 0.126 msec and stimulation period of 1 sec. For the 270 and 100 mTesla stimulation, the cell proliferation significantly increased in 21-24% as compared with the non-stimulated cells. Gene expression of cartilage extracellular matrix genes (ACAN, COMP and COL2A1) was assayed by quantitative real time-PCR method. The ACAN gene expression showed a significant brightness, which means the increase on gene expression, compared with the non-stimulated cells. Our results suggest that the strong pulse magnetic field stimulation can be utilized to accelerate cell proliferation and gene expression on human chondrosarcoma cells.

비미분형 맥동검출변환기 개발 (Developed of non-differential pulse detection)

  • 김현규;한상휘;이용동;박영배;허웅
    • 대한전자공학회:학술대회논문집
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    • 대한전자공학회 1998년도 하계종합학술대회논문집
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    • pp.573-576
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    • 1998
  • In this paper, we devised pulse detection transducer that has non-differential characteristics for pulse detection on chongu arterial. The transducer consist of load cell and driving electronic circuits. Load cell consist of cantilever and two metal film strain gauge. The pressure signal from chongu artery is delivered to load cell using artery rider that attached to cantilever. Therefore the pressure pulse signal can obtain by the developed transducer. As the results of experiment, the developed transducer has a good linearity at pressure to voltage conversion and acan detect non-differential pulse signal from chongu artery.

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라인 스캔 카메라를 위한 저가형 시 균일 조명장치 구현 (Development of a Low-cost Lighting System for Line-acan Camera)

  • 김홍갑;김형석
    • 대한전기학회논문지:시스템및제어부문D
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    • 제49권5호
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    • pp.235-240
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    • 2000
  • A low cost lighting system for line-scan cameras has been developed with 3-phase power. When exposure time of line-scan camera is shorter than fluctuation period of illumination, the average gray value of each acquired 1-D image varies. Detecting defects on the objects's surface under such illuminating environment is very difficult. The proposed lighting system is composed of low-cost fluorescent lights based on 3-phase power. The specially designed lighting pack and the properly selected lighting position enable to get the rippleless lighting. The principle of the proposed lighting system has been explained analytically. The lighting system has been tested for fabric inspection with line-scan camera and it's efficacy has been proved.

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가시납지리의 난발생(卵發生)과 자어(仔魚)의 발육(發育) 및 자어(仔魚)의 표피상돌기(表皮上突起) (Development of the Bittering, Acanthorhodeus(=Acheilognathus) gracilis (Cyprinidae), with a Note on Minute Tubercles on the Skin Surface)

  • 영목신양;전상린
    • 한국어류학회지
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    • 제2권2호
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    • pp.169-181
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    • 1990
  • 전북(全北) 김제군(金堤郡) 죽산면(竹山面) 죽산리(竹山里) 죽산천(竹山川)서 채집(採集) 가시납지리친어(親魚)를 사육(飼育)하던 중 1989년(年) 4월(月) 11일(日)에 인공수정(人工受精)을 시켜 난발생(卵發生), 자어(仔魚)의 발육(發育) 및 자어(仔魚)의 표피상돌기(表皮上突起)를 관찰(觀察)한 결과(結果)는 다음과 같다. 완숙란(完熟卵)의 형태(形態)는 동물극(動物極)쪽이 조금 뾰족하고 그 주위(周圍)에 둥그스럼한 3∼4개(個)의 돌기(突起)가 있으며 그 중심부(中心部)에 난문(卵門)이 있다. 난막(卵膜)은 얇으나 제리상(狀)인 점액물질(粘液物質)로 덮여 있어서 흐리고 반투명(半透明)이며 약(弱)한 점착성(粘着性)이 있다. 전장(全長) 89.40 mm인 자친어(雌親魚)로부터 배를 눌러 얻은 완숙란(完熟卵)의 크기는 $2.09{\pm}0.04{\times}1.26{\pm}0.02mm$로 한번에 평균(平均) 304립(粒)이 얻어졌다. 자어(仔魚)의 발육형태(發育形態)는 대체(大體)로 큰납지리와 유사(類似)했다. 즉(卽) 자어(仔魚)의 표피상돌기(表皮上突起)는 몸 전체(全體)의 표피상(表皮上)에 사면형돌기(斜面型突起)가 분포(分布)되었고 S자형(字型)으로 몸을 꿈틀거리는듯한 운동(運動)을 한다. 이러한 형질(形質)은 납지리, 큰납지리, Pseudoperilampus typus, Acheilognathus longipinnis등(等)과의 공유형질(共有形質)인 점(點)으로부터 이들 종(種)과 근연관계(近緣關係)에 있다고 추정(推定)된다. 또 위의 4 종중(種中) 큰납지리를 제외(除外)한 3 종(種)을 모두 추계산란형(秋季産卵型)인데 본(本) 종(種)과 큰납지리는 봄에서 초여름에 걸쳐서 산란(産卵)을 한다. 따라서 본(本) 종(種)과 큰납지리의 개체발생(個體發生)이 추계산란형(秋季産卵型)의 개체발생(個體發生)과 유사(類似)한 점(點)이 많다는 사실(事實)은 추계산란형(秋季産卵型)의 출현(出現)을 고찰(考察)하는데 매우 중요(重要)하다고 생각된다.한편 본(本) 종(種)과 큰납지리는 배기기조수(背??條數) 차리외(差異外)에도 완숙란(完熟卵)의 형태(形態) 차리(差異) 그리고 치어(稚魚)의 배기(背?)의 흑색(黑色) 반문(斑紋)이 큰납지리는 타원형(楕圓形)인데 본(本) 종(種)은 삼각형(三角形)인 점등(點等)의 형질(形質)로도 식별(識別)된다.

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Low-Molecular-Weight Collagen Peptide Ameliorates Osteoarthritis Progression through Promoting Extracellular Matrix Synthesis by Chondrocytes in a Rabbit Anterior Cruciate Ligament Transection Model

  • Lee, Mun-Hoe;Kim, Hyeong-Min;Chung, Hee-Chul;Kim, Do-Un;Lee, Jin-Hee
    • Journal of Microbiology and Biotechnology
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    • 제31권10호
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    • pp.1401-1408
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    • 2021
  • This study examined whether the oral administration of low-molecular-weight collagen peptide (LMCP) containing 3% Gly-Pro-Hyp with >15% tripeptide (Gly-X-Y) content could ameliorate osteoarthritis (OA) progression using a rabbit anterior cruciate ligament transection (ACLT) model of induced OA and chondrocytes isolated from a patient with OA. Oral LMCP administration (100 or 200 mg/kg/day) for 12 weeks ameliorated cartilage damage and reduced the loss of proteoglycan compared to the findings in the ACLT control group, resulting in dose-dependent (p < 0.05) improvements of the OARSI score in hematoxylin & eosin (H&E) and Safranin O staining. In micro-computed tomography analysis, LMCP also significantly (p < 0.05) suppressed the deterioration of the microstructure in tibial subchondral bone during OA progression. The elevation of IL-1β and IL-6 concentrations in synovial fluid following OA induction was dose-dependently (p < 0.05) reduced by LMCP treatment. Furthermore, immunohistochemistry illustrated that LMCP significantly (p < 0.05) upregulated type II collagen and downregulated matrix metalloproteinase-13 in cartilage tissue. Consistent with the in vivo results, LMCP significantly (p < 0.05) increased the mRNA expression of COL2A1 and ACAN in chondrocytes isolated from a patient with OA regardless of the conditions for IL-1β induction. These findings suggest that LMCP has potential as a therapeutic treatment for OA that stimulates cartilage regeneration.

면역학적 방법을 이용한 자유생활아메바의 분류학적 접근 (Immunological approach for classification of free-living amoeba in Korea)

  • 신호준;김종환;임경일
    • Parasites, Hosts and Diseases
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    • 제30권4호
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    • pp.289-298
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    • 1992
  • Acanthnmoeba sp. YM-4의 영양형은 사상의 침상위족을 내어 전형적인 각canthamoeba 속의 특징이 관찰되었으며, 포낭(씨스트)은 외벽이 등근혐이었고 내벽이 단순한 구형이거나 다소 불규칙한 2개의 세포벽을 갖고 있었다. SDS-PAGE 결과, Acanthamoeha sp. Yhf-4는 약 16개의 주요 단백질 분획이 관찰되었는데, 2차원 전기영동 결과와 함께 Acanthamoeba sp. YM-4의 단백질 분획은 A. culbertsoni와 거의 같은 양상이 관찰되었다. Acanthamoeba sp. YM-4로 면역시킨 마우스의 비장세포와 myeloma 세포를 융합한 결과, 항체를 분비하는 17개 clone을 얻을 수 있었다. 생성된 단세포를 항체 중 isotyping을 실시하였는데 실험에 사용된 McAY 6, McAY 7, McAY 8, McAY 13, McAY 16 단세포군은 IgGl 항체를, McAY 10, McAY 11 단세포군은 19M 항체를 분비하였다. 생성된 단세포군 항체는 대부분이 아메바의 세포막에 있는 항원과 반응하였으며, EITB 실험결과, McAY 7 단세포군 항체는 43 kD에서 반응대가 관찰되었고, McAY 10 단세포군 항체는 55 kD과 105 kD에서 반응대가 관찰되었다. ELISA 방법을 이용한 단세포를 항체들과 여러 아메바 간의 교차반응실험 결과, McAY 7 단세포군 항체는 Acanthamoeba sp. YM-4에만 반응하였고, McAY 6과 McAY 10은 A. culbertsoni와도 반응하였다. 또한 McAY 11은 모든 아매바와 교차반응을 보였다.

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MiR-29a and MiR-140 Protect Chondrocytes against the Anti-Proliferation and Cell Matrix Signaling Changes by IL-1β

  • Li, Xianghui;Zhen, Zhilei;Tang, Guodong;Zheng, Chong;Yang, Guofu
    • Molecules and Cells
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    • 제39권2호
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    • pp.103-110
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    • 2016
  • As a degenerative joint disease, osteoarthritis (OA) constitutes a major cause of disability that seriously affects the quality of life of a large population of people worldwide. However, effective treatment that can successfully reverse OA progression is lacking until now. The present study aimed to determine whether two small non-coding RNAs miR-29a and miR-140, which are significantly down-regulated in OA, can be applied together as potential therapeutic targets for OA treatment. MiRNA synergy score was used to screen the miRNA pairs that potentially synergistically regulate OA. An in vitro model of OA was established by treating murine chondrocytes with IL-$1{\beta}$. Transfection of miR-29a and miR-140 via plasmids was investigated on chondrocyte proliferation and expression of nine genes such as ADAMTS4, ADAMTS5, ACAN, COL2A1, COL10A1, MMP1, MMP3, MMP13 and TIMP metallopeptidase inhibitor 1 (TIMP1). Western blotting was used to determine the protein expression level of MMP13 and TIMP1, and ELISA was used to detect the content of type II collagen. Combined use of miR-29a and miR-140 successfully reversed the destructive effect of IL-$1{\beta}$ on chondrocyte proliferation, and notably affected the MMP13 and TIMP1 gene expression that regulates extracellular matrix. Although co-transfection of miR-29a and miR-140 did not show a synergistic effect on MMP13 protein expression and type II collagen release, but both of them can significantly suppress the protein abundance of MMP13 and restore the type II collagen release in IL-$1{\beta}$ treated chondrocytes. Compared with single miRNA transfection, cotransfection of both miRNAs exceedingly abrogated the suppressed the protein production of TIMP1 caused by IL-$1{\beta}$, thereby suggesting potent synergistic action. These results provided1novel insights into the important function of miRNAs' collaboration in OA pathological development. The reduced MMP13, and enhanced TIMP1 protein production and type II collagen release also implies that miR-29a and miR-140 combination treatment may be a possible treatment for OA.

감성돔(Acanthopagrus schiegeli)의 초기생활사 동안 소화기관 발달 (Ontogeny of the Digestive Organ during Early Life Stages of the Black Sea Bream, Acanthopagrus schlegeli(Teleostei: Sparidae))

  • 이정식;김흥윤;변순규;김진도;고창순;진평
    • 한국수산과학회지
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    • 제33권2호
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    • pp.129-136
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    • 2000
  • 부화직후 자어는 전장 2.0 mm (n=10)이며, 약 $1,000{\times}590 {mu}m$ 크기의 난황낭과, 입방상피로 구성된 직선상의 소화관을 가진다. 전장 $3.5mm$ 자어의 소화관은 회전되어 있으며, 식도, 위, 장의 구분이 가능하며, 췌장에서는 외분비선이 관찰된다. 그리고 이 시기에 후장부에서는 점막주름과 호산성과립세포 및 선조연이 관찰된다. 전장 3.7mm시기에 난황은 완전 흡수되며, 전장부의 상피층 정단면에서 선조연이 구분된다. 전장 4.0mm 시기에 위에서 점막 주름의 형성과 췌장의 외분비선세포의 세포질에서 효소원과립이 확인되었다. 전장 $4.5{\~}5.0mm$ 시기에 간소엽의 구분이 가능하며, 장과 식도에서는 PAS에 양성을 보이는 점액분비세포들이 관찰된다. 전장 $6.3{\~}7.0mm$ 자어의 식도와 장에서는 조직충의 구분이 가능하다. 전장 9.0mm 시기에 위는 분문부, 체부, 유문부의 구분이 가능하며, 위체부에서 위선이 관찰되기 시작한다. 식도와 장의 조직학적 구조가 성체와 유사한 시기는 전장 $10.0{\~}11.0mm$의 치어기이며, 위는 전장 15.0mm에 성체와 유사한 조직학적 구조를 보였다. 본 연구 결과 감성돔의 기능적 소화관은 전장 15.0{\~}l7.0mm$의 치어기에 완성된다고 할 수 있다.

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