• Title/Summary/Keyword: Pax2

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Targeted Panel Exome Sequencing in Suspected Monogenic Diabetes: Single-Center Pilot Study

  • Lee, Sangwoo;Lee, Gi Min;Lee, MiSeon;Lee, Rosie;Moon, Jung Eun
    • Journal of Interdisciplinary Genomics
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    • v.4 no.1
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    • pp.7-10
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    • 2022
  • Purpose:Maturity onset diabetes of the young (MODY) is the most common hereditary form of diabetes mellitus (DM), with similar clinical manifestations to type 1 or type 2 DM, leading to diagnostic ambiguity. Despite increased genetic research on monogenic DM, studies with Asian populations are limited. Therefore, we investigated mutation in possible monogenic DM and MODY in Korean children and aldolescents. Methods: Targeted panel exome sequencing including 32 targets genes was performed for 41 patients with suspected monogenic DM at Kyungpook National University Children's Hospital. Results: Variants were detected in 19 patients, including those in known MODY-associated genes (HNF4A, GCK, HNF1A, CEL, PAX4, INS, and BLK) and monogenic DM-associated genes (WFS1, FRX6, and GLIS3). Conclusion: MODY variants were detected more than expected. Targeted exon sequencing is helpful in diagnosing MODY or possible monogenic DM patients.

Identification of Histone Deacetylase 2 as a Functional Gene for Skeletal Muscle Development in Chickens

  • Shahjahan, Md.;Liu, Ranran;Zhao, Guiping;Wang, Fangjie;Zheng, Maiqing;Zhang, Jingjing;Song, Jiao;Wen, Jie
    • Asian-Australasian Journal of Animal Sciences
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    • v.29 no.4
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    • pp.479-486
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    • 2016
  • A previous genome-wide association study (GWAS) exposed histone deacetylase 2 (HDAC2) as a possible candidate gene for breast muscle weight in chickens. The present research has examined the possible role of HDAC2 in skeletal muscle development in chickens. Gene expression was measured by quantitative polymerase chain reaction in breast and thigh muscles during both embryonic (four ages) and post-hatch (five ages) development and in cultures of primary myoblasts during both proliferation and differentiation. The expression of HDAC2 increased significantly across embryonic days (ED) in breast (ED 14, 16, 18, and 21) and thigh (ED 14 and 18, and ED 14 and 21) muscles suggesting that it possibly plays a role in myoblast hyperplasia in both breast and thigh muscles. Transcript abundance of HDAC2 identified significantly higher in fast growing muscle than slow growing in chickens at d 90 of age. Expression of HDAC2 during myoblast proliferation in vitro declined between 24 h and 48 h when expression of the marker gene paired box 7 (PAX7) increased and cell numbers increased throughout 72 h of culture. During induced differentiation of myoblasts to myotubes, the abundance of HDAC2 and the marker gene myogenic differentiation 1 (MYOD1), both increased significantly. Taken together, it is suggested that HDAC2 is most likely involved in a suppressive fashion in myoblast proliferation and may play a positive role in myoblast differentiation. The present results confirm the suggestion that HDAC2 is a functional gene for pre-hatch and post-hatch (fast growing muscle) development of chicken skeletal muscle.

The Comparison of Commercial Serum-Free Media for Hanwoo Satellite Cell Proliferation and the Role of Fibroblast Growth Factor 2

  • In-sun Yu;Jungseok Choi;Mina K. Kim;Min Jung Kim
    • Food Science of Animal Resources
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    • v.43 no.6
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    • pp.1017-1030
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    • 2023
  • Fetal bovine serum (FBS), which contains various nutrients, comprises 20% of the growth medium for cell-cultivated meat. However, ethical, cost, and scientific issues, necesitates identification of alternatives. In this study, we investigated commercially manufactured serum-free media capable of culturing Hanwoo satellite cells (HWSCs) to identify constituent proliferation enhancing factors. Six different serum-free media were selected, and the HWSC proliferation rates in these serum-free media were compared with that of control medium supplemented with 20% FBS. Among the six media, cell proliferation rates were higher only in StemFlexTM Medium (SF) and Mesenchymal Stem Cell Growth Medium DXF (MS) than in the control medium. SF and MS contain high fibroblast growth factor 2 (FGF2) concentrations, and we found upregulated FGF2 protein expression in cells cultured in SF or MS. Activation of the fibroblast growth factor receptor 1 (FGFR1)-mediated signaling pathway and stimulation of muscle satellite cell proliferation-related factors were confirmed by the presence of related biomarkers (FGFR1, FRS2, Raf1, ERK, p38, Pax7, and MyoD) as indicated by quantitative polymerase chain reaction, western blotting, and immunocytochemistry. Moreover, PD173074, an FGFR1 inhibitor suppressed cell proliferation in SF and MS and downregulated related biomarkers (FGFR1, FRS2, Raf1, and ERK). The promotion of cell proliferation in SF and MS was therefore attributed to FGF2, which indicates that FGFR1 activation in muscle satellite cells may be a target for improving the efficiency of cell-cultivated meat production.

Weighted Gene Co-expression Network Analysis in Identification of Endometrial Cancer Prognosis Markers

  • Zhu, Xiao-Lu;Ai, Zhi-Hong;Wang, Juan;Xu, Yan-Li;Teng, Yin-Cheng
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.9
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    • pp.4607-4611
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    • 2012
  • Objective: Endometrial cancer (EC) is the most common gynecologic malignancy. Identification of potential biomarkers of EC would be helpful for the detection and monitoring of malignancy, improving clinical outcomes. Methods: The Weighted Gene Co-expression Network Analysis method was used to identify prognostic markers for EC in this study. Moreover, underlying molecular mechanisms were characterized by KEGG pathway enrichment and transcriptional regulation analyses. Results: Seven gene co-expression modules were obtained, but only the turquoise module was positively related with EC stage. Among the genes in the turquoise module, COL5A2 (collagen, type V, alpha 2) could be regulated by PBX (pre-B-cell leukemia homeobox 1)1/2 and HOXB1(homeobox B1) transcription factors to be involved in the focal adhesion pathway; CENP-E (centromere protein E, 312kDa) by E2F4 (E2F transcription factor 4, p107/p130-binding); MYCN (v-myc myelocytomatosis viral related oncogene, neuroblastoma derived [avian]) by PAX5 (paired box 5); and BCL-2 (B-cell CLL/lymphoma 2) and IGFBP-6 (insulin-like growth factor binding protein 6) by GLI1. They were predicted to be associated with EC progression via Hedgehog signaling and other cancer related-pathways. Conclusions: These data on transcriptional regulation may provide a better understanding of molecular mechanisms and clues to potential therapeutic targets in the treatment of EC.

Culturing characteristics of Hanwoo myosatellite cells and C2C12 cells incubated at 37℃ and 39℃ for cultured meat

  • Sehyuk Oh;Sanghun Park;Yunhwan Park;Yun-a Kim;Gyutae Park;Xiangshun Cui;Kwansuk Kim;Seontea Joo;Sunjin Hur;Gapdon Kim;Jungseok Choi
    • Journal of Animal Science and Technology
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    • v.65 no.3
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    • pp.664-678
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    • 2023
  • To improve culture efficiency of Hanwoo myosatellite cells, these cells were cultured at different temperatures. Hanwoo myosatellite cells were compared with C2C12 cells to observe proliferation and differentiation at culture temperatures of 37℃ and 39℃ and determine the possibility of using them as cultured meat. Immunofluorescence staining using Pax7 and Hoechst, both cells cultured at 37℃ proliferated better than cultured at 39℃ (p < 0.05). When differentiated cells were stained with myosin and Hoechst, there was no significant difference in myotube thickness and Fusion index (p > 0.05). In Western blotting analysis, Hanwoo myosatellite cells were no significant difference in the expression of myosin between cells differentiated at the two temperatures (p > 0.05). C2C12 cells were no significant difference in the expression of myosin between cells differentiated at the two temperatures (p > 0.05). In reverse transcription and quantitative polymerase chain reaction (RT-qPCR) analysis, Hanwoo myosatellite cells cultured at 39℃ had significantly (p < 0.05) higher expression levels of MyHC, MYF6, and MB than those cultured at 37℃. C2C12 cells cultured at 39℃ showed significantly (p < 0.05) higher expression levels of MYOG and MB than those cultured at 37℃. To increase culture efficiency of Hanwoo myosatellite cells, proliferating at 37℃ and differentiating at 39℃ are appropriate. Since results of temperature differences of Hanwoo myosatellite cells were similar to those of C2C12 cells, they could be used as a reference for producing cultured meat using Hanwoo satellite cells.

Genome-wide association analysis of nine reproduction and morphological traits in three goat breeds from Southern China

  • Xiaoyan, Sun;Jing, Jiang;Gaofu, Wang;Peng, Zhou;Jie, Li;Cancan, Chen;Liangjia, Liu;Nianfu, Li;Yuanyou, Xia;Hangxing, Ren
    • Animal Bioscience
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    • v.36 no.2
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    • pp.191-199
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    • 2023
  • Objective: This study aimed to investigate the significant single nucleotide polymorphisms (SNPs) and genes associated with nine reproduction and morphological traits in three breed populations of Chinese goats. Methods: The genome-wide association of nine reproduction and morphological traits (litter size, nipple number, wattle, skin color, coat color, black dorsal line, beard, beard length, and hind leg hair) were analyzed in three Chinese native goat breeds (n = 336) using an Illumina Goat SNP50 Beadchip. Results: A total of 17 genome-wide or chromosome-wide significant SNPs associated with one reproduction trait (litter size) and six morphological traits (wattle, coat color, black dorsal line, beard, beard length, and hind leg hair) were identified in three Chinese native goat breeds, and the candidate genes were annotated. The significant SNPs and corresponding putative candidate genes for each trait are as follows: two SNPs located on chromosomes 6 (CSN3) and 24 (TCF4) for litter size trait; two SNPs located on chromosome 9 (KATNA1) and 1 (UBASH3A) for wattle trait; three SNPs located on chromosome 26 (SORCS3), 24 (DYM), and 20 (PDE4D) for coat color trait; two SNPs located on chromosome 18 (TCF25) and 15 (CLMP) for black dorsal line trait; four SNPs located on chromosome 8, 2 (PAX3), 5 (PIK3C2G), and 28 (PLA2G12B and OIT3) for beard trait; one SNP located on chromosome 18 (KCNG4) for beard length trait; three SNPs located on chromosome 17 (GLRB and GRIA2), 28 (PGBD5), and 4 for hind leg hair trait. In contrast, there were no SNPs identified for nipple number and skin color. Conclusion: The significant SNPs or genes identified in this study provided novel insights into the genetic mechanism underlying important reproduction and morphological traits of three local goat breeds in Southern China as well as further potential applications for breeding goats.

Investigation of the effect of Lacca Sinica Exsiccata water extract on myoblast differentiation (건칠(乾漆) 열수 추출물이 근원세포의 근분화에 미치는 영향)

  • Lee, Sangsoo;Kim, Eun-Mi;Cho, Namjoon;Han, Hyosang;Kim, Kee Kwang
    • The Korea Journal of Herbology
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    • v.35 no.3
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    • pp.9-16
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    • 2020
  • Objectives : Sarcopenia is a disease that leads to a decrease in skeletal muscle, and the importance of prevention and treatment thereof is increasing in an aging society. However, there is a definite limitation of exercise therapy for sarcopenia, and thus, there is an urgent need for a pharmacologic research to the treatment of sarcopenia. Methods : 2,2'-azino-bis-3-ethylbenzothiazoline-6-sulphonic acid (ABTS) assay was performed to confirm the antioxidant efficacy of water extract of Lacca Sinica Exsiccata (WELSE). To determine the effect of WELSE on myoblast activity, 3-(4,5-dimethylthiazol-2-yl)-5-(3-carboxymethoxyphenyl)-2-(4-sulfophenyl)-2H-tetrazolium (MTS) assay was performed. To confirm the effect of WELSE on the differentiation of myoblast into myotubes, protein expression levels of myosin heavy chain 3 (Myh3) and paired box 3/7 (pax3/7) were confirmed by immunoblot analysis. In addition, immunofluorescence microscopy was performed to confirm the effect on myotube formation of WELSE. Results : It was confirmed that WELSE had high antioxidant activity and showed no cytotoxicity to myoblast up to 200 ㎍/㎖ concentration. Myoblast was treated with WELSE at a concentration of 100 ㎍/㎖ and differentiated for 5 days. The expression of Myh3, which forms myotubes, was promoted and the morphology of myotubes was changed and Increasing the thickness. Conclusions : In this paper, we confirmed the excellent antioxidant efficacy of WELSE and positive effects on muscle differentiation and myotube formation. These results suggest valuable as a material for pharmaceutical research on the prevention and treatment of sarcopenia.

Comparison of growth performance and related gene expression of muscle and fat from Landrace, Yorkshire, and Duroc and Woori black pigs

  • Bosung Kim;Yejin Min;Yongdae Jeong;Sivasubramanian Ramani;Hyewon Lim;Yeonsu Jo;Woosang Kim;Yohan Choi;Sungkwon Park
    • Journal of Animal Science and Technology
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    • v.65 no.1
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    • pp.160-174
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    • 2023
  • The purpose of this study was to compare marbling score, meat quality, juiciness, sarcomere length, and skeletal muscle satellite cell (SMSC) growth and related gene expression between Woori black pig (WB) and the Landrace, Yorkshire, and Duroc (LYD) crossbreed at different body weights (b.w.). WB was developed to improve meat quality and growth efficiency by crossbreeding Duroc with Korean native black pig. A total of 24 pigs were sacrificed when their b.w. reached about 50, 75, 100, and 120 kg. SMSC were isolated from the femoris muscles, and muscle and adipose tissues were sampled from the middle and the subcutaneous part of the femoris of hind legs, respectively. Expression levels of genes including Myoblast determination protein 1 (MyoD), Paired box gene 3 (Pax3), Myosin heavy chain (MyHC), and Myogenin, which are responsible for the growth and development of SMSC, were higher in LYD than the WB. Muscle growth inhibitor myostatin (MSTN), however, was expressed more in WB compared to LYD (p < 0.01). Numbers of SMSC extracted from femoris muscle of LYD at 50, 75, 100, and 120 kg b.w. were 8.5 ± 0.223, 8.6 ± 0.245, 7.2 ± 0.249, and 10.9 ± 0.795, and those from WB were 6.2 ± 0.32, 6.2 ± 0.374, 5.3 ± 0.423, and 17.1 ± 0.315, respectively. Expression of adipogenic genes in adipose tissue including CCAAT/enhancer-binding protein (CEBP)-β, peroxisome proliferator activated receptor (PPAR)-γ, and fatty acid synthase (FASN), were greater in WB when compared with LYD (p < 0.01). Results from the current study suggest that different muscle cell numbers between 2 different breeds might be affected by related gene expression and this warrants further investigation on other growth factors regulating animal growth and development.

Design and Implementation of Educational Embedded Network System (교육용 임베디드 네트워크 실습 장비의 설계 및 구현)

  • Kim, Dae-Hee;Chung, Joong-Soo;Park, Hee-Jung;Jung, Kwang-Wook
    • Journal of the Korea Society of Computer and Information
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    • v.14 no.10
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    • pp.23-29
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    • 2009
  • This paper presents the development of embedded network educational system. This is an educational equipment which enables user to have training over Network Configuration and Embedded network programming practice on Internet environment. The network education system is developed on embedded environment. based on using ethernet interface. On the development environment. PAX255 VLSI chip is used for the processor, the ADSv1.2 for debugging, uC/OS276 for RTOS. The system software was developed using C language. The ping program provided an educational environment for the student to compile and load it to run after doing practice of demonstration behavior. Afterwards programming procedure starts the step-by-step training just like the demonstration function. In other words, programming method how to design the procedure of ARP operation and ICMP operation is explained.

The Flora of Vascular Plants of Mt. Ja-Ung (Gyeong-gi-do, Pa-ju-si) Adjacent to the DMZ (DMZ 일원 자웅산(경기도 파주시) 일대의 관속식물상)

  • Young-Min Choi;Jong-Won Lee;Jin-Heon Song;Kyung-Ryul Byun;Jaesang Chung;Hee-Young Gil
    • Proceedings of the Plant Resources Society of Korea Conference
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    • 2021.04a
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    • pp.33-33
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    • 2021
  • 자웅산(264.3m)은 DMZ 접경지역인 경기도 파주시 법원읍에 위치하며, 백두대간 줄기 중 한북정맥을 따라 동쪽으로는 노고산(401m), 서쪽으로는 명학산(220m) 사이에 위치하고 있다. 2020년 4월부터 10월까지 계절별로 1회씩 총 3회 식물상 조사를 진행하였고 화상자료와 증거표본을 확보하였다. 본 조사로부터 자웅산 일대에 자생하는 관속식물은 82과 208속 267종 9아종 22변종 4품종으로 총 303분류군이 확인되었다. 양치식물은 10과 18분류군, 나자식물은 2과 6분류군, 쌍자엽식물이 62과 226분류군, 단자엽식물이 8과 53분류군으로 확인되었다. 개나리(Forsythia koreana (Rehder) Nakai), 백운산원추리(Hemerocallis hakuunensis Nakai), 키버들(Salix koriyanagi Kimura ex Goerz) 등 3과 3분류군의 특산식물이 확인되었다. 침입외래식물로는 가시도꼬마리(Xanthium italicum Moretti), 단풍잎돼지풀(Ambrosia trifida L.), 미국개기장(Panicum dichotomiflorum Michx.), 서양민들레(Taraxacum officinale F.H.Wigg.), 애기망초(Conyza parva Cronquist) 등 7과 23분류군으로 조사되어 조사식물 303분류군의 7.6%를 차지하였다. 환경부 지정 식물구계학적 특정종은 V등급이 미나리냉이(Cardamine leucantha (Tausch) O.E.Schulz), IV등급이 당단풍나무(Acer pseudosieboldianum (Pax) Kom.), 산복사나무(Prunus davidiana (Carrière) Franch.) 등 2분류군, III등급이 금낭화(Dicentra spectabilis (L.) Lem.), 꽃쥐손이(Geranium platyanthum Duthie), 분비나무(Abies nephrolepis (Trautv. ex Maxim.) Maxim.) 등 7분류군이 확인되어 III등급 이상의 특정종은 10분류군으로 파악된다.

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