• Title/Summary/Keyword: ACAN

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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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    • v.15 no.2
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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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    • v.18 no.1
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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.

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

  • Kim, H.K.;Han, S.H.;Lee, Y.D.;Park, Y.B.;Huh, W.
    • Proceedings of the IEEK Conference
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    • 1998.06a
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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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Development of a Low-cost Lighting System for Line-acan Camera (라인 스캔 카메라를 위한 저가형 시 균일 조명장치 구현)

  • Kim, Hong-Gap;Kim, Hyeong-Seok
    • The Transactions of the Korean Institute of Electrical Engineers D
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    • v.49 no.5
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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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Development of the Bittering, Acanthorhodeus(=Acheilognathus) gracilis (Cyprinidae), with a Note on Minute Tubercles on the Skin Surface (가시납지리의 난발생(卵發生)과 자어(仔魚)의 발육(發育) 및 자어(仔魚)의 표피상돌기(表皮上突起))

  • Suzuki, Nobuhiro;Jeon, Sang-Rin
    • Korean Journal of Ichthyology
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    • v.2 no.2
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    • pp.169-181
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    • 1990
  • The development of eggs and larvae, and minute scale-like tubercles on the skin surface of larval Acantlaorhodeus gracilis from Korea were observed. They spawned from late March through the middle of June. A fish spawned at least 5 times and the number of eggs averaged 304 per oviposition. Unfertilized eggs are nearly ovoid-shaped(mean$\pm$SD=$2.09{\pm}0.04\;mm$ in length with range of 2.05 to 2.13 mm and mean$\pm$SD=$1.26{\pm}0.02\;mm$ in breadth with range of 1.24 to 1.30 mm measured for the 50 eggs) and opaque yellow color. The tip of egg membrane at the animal pole side swelled and formed a few hilly projections. The shape of the eggs was just like a loquat. Most of embryos began to hatch out in thirty-eight hours after insemination at $22{\pm}1^{\circ}C$ in water temperature. As regards the morphological characters of the eggs and larval development, Acan. gracilis was similar to Acan. asmussi, Acheilognathus rhombeus, A. longipinnis and Pseudoperilampus typus. The larvae of this species is unique particularly in the following two characters, i.e., 1) scale-like tubercles ellipsoided in a diagonal cross section on the whole body and 2) incessant wiggly movement pattern as that of fly maggot, with the larvae of the above mentioned species. These characters seem to reflect the phylogenetic relationships among acheilognathine fishes. On the other hand, this species and Acan. asmussi are spring-summer spawning bitterlings. And also these species never retard the larval growth in such larval stage as the duration from Stage B to Stage D.

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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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    • v.31 no.10
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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.

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

  • Sin, Ho-Jun;Kim, Jong-Hwan;Im, Gyeong-Il
    • Parasites, Hosts and Diseases
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    • v.30 no.4
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    • pp.289-298
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    • 1992
  • Acanthamoeba sap., free-living amoebae inhabited in moist soil, pond, freshwater, sewage, atmosphere and swimming pool, may be causative protozoa of the fatal primary amoebic meningoence-phalitis in experimental animals and humans. In this study, Acar,thamoeba spry. , including Acan. thamoeba sp. YM-4 (isolated strain from Korea) had been compared by the two-dimensional electrophoresis and hybridoma technique as well as the difference of morphological characteristics. Trophozoite of Acenthamoeba sp. YM-4 is usually uninucleate and show the hyaline filamentous projections (acanthopoda) . No aagellate stage observed. Cysts have two walls, the outer wall is nearly circular, but inner wall is oval or some irregular. As results of SDS-PAGE for Iysate of Acanthamoeba sp. VM-4, 16 major protein fractions are similiar to those of A. cuzbertsoni, but different to A. royreba and A. polyphaga. Findings of two-dimensional electrophoretic patterns of Acanthamceba sp. YM-4 are almost same to those of A. culberssoni, The isotope of monoclonal antibodies produced from McAY 6, McAY 7, McAY 8, McAY 13 and McAY 16 clones were IgGl, and McAY 10 and McAY 11 clones were IsM. As results of the cross-reactivity among various amoebae using ELISA with monoclonal antibodies, McAY 7 monoclonal antibody (molecular weight 43 kDa by EITB) was only reacted with Acanthamoeba sp. YM-4, but McAY 6 and McAY 10 monoclonal antibodies were reacted to A. cuzbertsoni as well as Acanthamoeba sp. YM-4.

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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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    • v.39 no.2
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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.

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

  • LEE Jung Sick;KIM Heung-Yun;BYUN Soon Gyu;KIM Jin Do;GO Chang Soon;CHIN Pyung
    • Korean Journal of Fisheries and Aquatic Sciences
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    • v.33 no.2
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    • pp.129-136
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    • 2000
  • Differentiation and development of the digestive organ of the black sea bream, AcanHepagus schlegeli were studied by means of histological methods. The hatched lawn if TL(total length) $2.0 mm (n=10)$ had a yolk sac of $1,000{\times}590 {\mu}m$ and simple straight digestive tract, which was composed of cuboidal epithelium. In the pre-larval stage of TL $3.5 mm$, digestive tract could be distinguished into esophagus, stomach and intestine, and the exocrine glands were appeared in the pancreas. In this stage mucosal folds, eosinophilic granule cells and brush border were observed in the posterior intestine. Yolky materials were completely absorbed and the brush border was recognized in the free surface of anterior intestine in TL $3.7 mm$. In the stomach mucosal folds began to appear from TL $4.0 mm$. In this time the zymogen granules were recognized in the cytoplasm of pancreatic exocrine cells. In the post-larval stage ranged from $4.5 to 5.0 mm$ in TL, hepatic cords started to develop, and the mucous secretory cells of PAS positivewere observed at esophagus and intestine. In the post-larval stage ranged from $6.3 to 7.0 mm$ in TL, histological layer of esophagus and intestine could be distinguished into serous membrane, muscular layer, submucosal layer and mucosal layer. From over TL $9.0 mm$, stomach could be distinguished into cardiac, fundic and pyloric portion, and the gastric gland began to appear at mucosal fold of fundic stomach. In the juvenile stage ranged from $10.0 to 11.0 mm$ in TL, histological structures of esophagus and intestine were similar to those of adult. From over TL $15.0 mm$, histological structures of stomach were similar to those of adult. Structural and functional digestive organ of black sea bream was present from the juvenile stage ranged from $15.0 to 17.0 mm$ in TL.

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