• Title/Summary/Keyword: Single-Cell Analysis

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Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K)

  • Park, Kyung Eui;Kim, Sung Ah;Kang, Moon Joo;Kim, Hee Sun;Cho, Sung Im;Yoo, Kyoung Won;Kim, So Yeon;Lee, Hye Jun;Oh, Sun Kyung;Seong, Moon-Woo;Ku, Seung-Yup;Jun, Jong Kwan;Park, Sung Sup;Choi, Young Min;Moon, Shin Yong
    • Clinical and Experimental Reproductive Medicine
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    • v.40 no.1
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    • pp.42-46
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    • 2013
  • Hypochondroplasia (HCH) is an autosomal dominant inherited skeletal dysplasia, usually caused by a heterozygous mutation in the fibroblast growth factor receptor 3 gene (FGFR3). A 27-year-old HCH woman with a history of two consecutive abortions of HCH-affected fetuses visited our clinic for preimplantation genetic diagnosis (PGD). We confirmed the mutation in the proband (FGFR3:c.1620C>A, p.N540K), and established a nested allele-specific PCR and sequence analysis for PGD using single lymphocyte cells. We performed this molecular genetic analysis to detect the presence of mutation among 20 blastomeres from 18 different embryos, and selected 9 embryos with the wild-type sequence (FGFR3:c.1620C). A successful pregnancy was achieved through a frozen-thawed cycle and resulted in the full-term birth of a normal neonate. To the best of our knowledge, this is the first report of a successful pregnancy and birth using single-cell allele-specific PCR and sequencing for PGD in an HCH patient.

Development of a real-time Analysis System of Microchip Fluorescence Images based on Server-Client (서버 클라이언트 기반의 실시간 마이크로칩 형광 이미지 분석 시스템 개발)

  • Cho, Migyung;Shim, Jaesool
    • Journal of the Korea Institute of Information and Communication Engineering
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    • v.17 no.5
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    • pp.1239-1244
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    • 2013
  • In the field of clinical medicine and research, the analysis of such as protein and DNA at the molecular level and even at the cell level are necessary for disease diagnosis and treatment. In many cases, a real time image of samples is needed for the accurate analysis and manipulation of samples since experimental samples are degenerated with time. In this research, a three-dimensional fluorescence microscope device was developed for taking images of protein and DNA inside a single cell and the server-client based image analysis system was made for an integrated management of the real-time images taken from the microscope device. The system consists of a fluorescent measurement device, the associated software and a client program on smartphone. The developed system allows doctors or experimental managers to receive and look at the real-time experimental images taken from the samples of patients anywhere in the emergency, to analyze results and to instantly diagnose the disease and to transfer the results to the patients. As a result, the system is able to be utilized in the implementation of ubiquitous health as well.

General Purpose Cross-section Analysis Program for Composite Rotor Blades

  • Park, Il-Ju;Jung, Sung-Nam;Kim, Do-Hyung;Yun, Chul-Yong
    • International Journal of Aeronautical and Space Sciences
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    • v.10 no.2
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    • pp.77-85
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    • 2009
  • A two-dimensional cross-section analysis program based on the finite element method has been developed for composite blades with arbitrary cross-section profiles and material distributions. The modulus weighted approach is used to take into account the non-homogeneous material characteristics of advanced blades. The CLPT (Classical Lamination Plate Theory) is applied to obtain the effective moduli of the composite laminate. The location of shear center for any given cross-sections are determined according to the Trefftz' definition while the torsion constants are obtained using the St. Venant torsion theory. A series of benchmark examples for beams with various cross-sections are illustrated to show the accuracy of the developed cross-section analysis program. The cross section cases include thin-walled C-channel, I-beam, single-cell box, NACA0012 airfoil, and KARI small-scale blades. Overall, a reasonable correlation is obtained in comparison with experiments or finite element analysis results.

Verification of Reduced Order Modeling based Uncertainty/Sensitivity Estimator (ROMUSE)

  • Khuwaileh, Bassam;Williams, Brian;Turinsky, Paul;Hartanto, Donny
    • Nuclear Engineering and Technology
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    • v.51 no.4
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    • pp.968-976
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    • 2019
  • This paper presents a number of verification case studies for a recently developed sensitivity/uncertainty code package. The code package, ROMUSE (Reduced Order Modeling based Uncertainty/Sensitivity Estimator) is an effort to provide an analysis tool to be used in conjunction with reactor core simulators, in particular the Virtual Environment for Reactor Applications (VERA) core simulator. ROMUSE has been written in C++ and is currently capable of performing various types of parameter perturbations and associated sensitivity analysis, uncertainty quantification, surrogate model construction and subspace analysis. The current version 2.0 has the capability to interface with the Design Analysis Kit for Optimization and Terascale Applications (DAKOTA) code, which gives ROMUSE access to the various algorithms implemented within DAKOTA, most importantly model calibration. The verification study is performed via two basic problems and two reactor physics models. The first problem is used to verify the ROMUSE single physics gradient-based range finding algorithm capability using an abstract quadratic model. The second problem is the Brusselator problem, which is a coupled problem representative of multi-physics problems. This problem is used to test the capability of constructing surrogates via ROMUSE-DAKOTA. Finally, light water reactor pin cell and sodium-cooled fast reactor fuel assembly problems are simulated via SCALE 6.1 to test ROMUSE capability for uncertainty quantification and sensitivity analysis purposes.

A Comparative Study of Science Textbooks in Korea, Singapore, and Taiwan - Focus on the field of Biology - (우리나라, 싱가포르, 대만의 과학 교과서 비교 연구 - 생명 영역을 중심으로 -)

  • Kim, Mi-Young;Kim, Kyung-Hee
    • Journal of The Korean Association For Science Education
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    • v.30 no.4
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    • pp.498-518
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    • 2010
  • This study analyzed the characteristics of organization scheme and the levels of core concepts in science textbooks used in Korea, Singapore, and Taiwan, which have shown superior achievement according to the TIMSS 2007. Science textbooks in Korea clearly divide the fields of Energy, Matter, Biology, and Earth, presenting the fields in nearly equal proportion in each grade. In the case of Singapore, science textbooks take an integrated content approach, combining concepts from several fields under a single theme. Science textbooks in Taiwan present a single content field in each unit. Also, because each grade engages in a specific field intensively, there are many cases in which concepts related to a single field are studied in a single grade. In view of levels of core concepts, Singapore or Taiwan showed higher achievement than Korea in themes of 'Cell and their Functions', 'Ecosystems', and 'Human Health' under the TIMSS 2007 biology field. Singapore introduces core concepts for these themes in lower grades compared to Korea and presents them repeatedly in several grades. In Taiwan, there are many cases in which these core concepts are taught only once during the course of $3^{rd}$ to $8^{th}$ grade, but the explanations are presented at a level that is suitable to TIMSS 2007 assessment objectives. Considering the results of this analysis, there is a need to reconsider the division of content fields and methods of presenting core concepts in the science textbooks of Korea.

Characterization of $Cu_2ZnSnSe_4$ thin film produced by selenization of metallic precursor (금속 프리커서의 셀렌화에 의한 $Cu_2ZnSnSe_4$ 박막의 특성)

  • Amal, M. Ikhlasul;Alfaruqy, M. Hilmy;Jang, Yun-Jung;Kim, Kyoo Ho
    • 한국신재생에너지학회:학술대회논문집
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    • 2010.06a
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    • pp.85.2-85.2
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    • 2010
  • $Cu_2ZnSnSe_4$ (CZTSe) is one of candidate to alternate $Cu(In,Ga)Se_2$ as solar absorber material for solar cell. The expensive elements of In and Ga are replaced by Zn and Sn, respectively to lower the material cost. In this study we fabricated CZTSe thin film by selenization of single precursor layer consisted metallic constituent. Precursor compositions ratio were selected to have Cu-poor and Zn-rich content and prepared by RF magnetron sputtering. Thermal processing was applied to introduce selenium into as-deposited films at temperatures ranging from 350 to 500 for time up to 120 minutes. Single precursor films showed amorphous structure and consist of individual elements of Cu, Zn, and Sn. It was confirmed by XRD analysis that synthesis of CZTSe compound is occurred from lower temperature process, although concurrently additional phases such as binary cooper selenides are also existed. The quality of CZTSe crystal was improved as temperature increased. We also investigated the optical and electrical properties of as-selenized CZTSe as well.

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Single-minded 1 Gene Mapping and Its Variants Association with Growth, Carcass Composition and Meat Quality Traits in the Pig

  • Zhao, X.F.;Xu, N.Y.;Chen, Z.;Wang, Q.;Guo, X.L.
    • Asian-Australasian Journal of Animal Sciences
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    • v.21 no.7
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    • pp.941-946
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    • 2008
  • Single-minded 1 gene (SIM1) is a homolog of Drosophila SIM1 gene which plays a key role in the midline cell lineage of the central nervous system and is implicated in the regulation of feeding behavior and obesity in the human and mouse. In this study, porcine SIM1 gene was firstly mapped to chromosome 1p13 using radiation hybrid (RH) mapping and two polymorphisms were detected at position 607 (A/G) in SIM1 intron7 and position 780 (C/T) in SIM1 exon8. The last substitution was genotyped in a 364 F2 animal-population and an association analysis of these genotypes was performed with growth, carcass and meat quality traits by the statistical animal model. The results showed the significant influence of the SIM1 genotype on growth (p<0.05): live weight at birth, later period of growth and average daily gain; and effects on carcass composition (p<0.05): weight of head and buck kneed foreleg, backfat depth, loin eye area, carcass leaf fat and ham fat weights; and traits related to intramuscular fat content (p<0.05).

Preparation of SnS Thin Films by MOCVD Method Using Single Source Precursor, Bis(3-mercapto-1-propanethiolato) Sn(II)

  • Park, Jong-Pil;Song, Mi-Yeon;Jung, Won-Mok;Lee, Won-Young;Lee, Jin-Ho;Kim, Hang-Geun;Shim, Il-Wun
    • Bulletin of the Korean Chemical Society
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    • v.33 no.10
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    • pp.3383-3386
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    • 2012
  • SnS thin films were deposited on glasses through metal organic chemical vapor deposition (MOCVD) method at relatively mild conditions, using bis(3-mercapto-1-propanethiolato) tin(II) precursor without toxic $H_2S$ gas. The MOCVD process was carried out in the temperature range of $300-400^{\circ}C$ and the average grain size in fabricated SnS films was about 500 nm. The optical band gap of the SnS film was about 1.3 eV which is in optimal range for harvesting solar radiation energy. The precursor and SnS films were characterized through infrared spectroscopy, nuclear magnetic resonance spectroscopy, DIP-EI mass spectroscopy, elemental analyses, thermal analysis, X-ray diffraction, and field emission scanning electron microscopic analyses.

A Missense Variant (R239Q) in CCN3 Induces Aberrant Apoptosis in the Developing Mouse Brain

  • Kim, Hyunduk;Yang, Hayoung;Woo, Dong Kyun;Jang, Sung-Wuk;Shim, Sungbo
    • Biomedical Science Letters
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    • v.24 no.2
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    • pp.64-75
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    • 2018
  • CCN3 (also known as NOV, Nephroblastoma overexpressed) proteins are involved in various pathologies during different developmental stages. We have previously shown that intracellular levels and normal extracellular secretion of CCN3 are important for neuronal differentiation. Furthermore, we demonstrated that a single amino acid in the CCN3 TSP-1 domain is important for extracellular secretion and that palmitoylation of CCN3 is required in this process. However, the effect of abnormal CCN3 accumulation on cells remains to be studied. Here, we found mutations in the TSP-1 domain of CCN3 that led to intracellular accumulation and abnormal aggregation of CCN3. It was observed that this mutation resulted in a phenomenon similar to neurodegeneration when overexpressed in the developing mouse cortex. This mutation also confirmed the activation of apoptotic gene expression in Neuro2a cells. In addition, we confirmed the in vivo transcriptional changes induced by this mutation using microarray analysis. We observed a significant increase in the expression of Anp32a, an apoptosis-related gene. Collectively, these results indicate that a single mutation in CCN3 can lead to abnormal cell death if it shows intracellular accumulation and abnormal aggregation.

Synthesis and Structural Analysis of 2-Amino-4-(4-hydroxy-3-methoxyphenyl)-7,9-dimethyl-5-oxo-4, 5, 6, 7-tetrahydropyrano [2, 3-d] pyrazolo [3, 4-b] pyridine-3-carbonitrile through X-ray Crystallography

  • Ganapathy, Jagadeesan;Jayarajan, R.;Vasuki, G.;Sanmargam, Aravindhan
    • Journal of Integrative Natural Science
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    • v.8 no.1
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    • pp.30-39
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    • 2015
  • The crystal structure of the potential active 2-amino-4-(4-hydroxy-3-methoxyphenyl)-7, 9-dimethyl-5-oxo-4, 5, 6, 7-tetrahydropyrano [2, 3-d] pyrazolo [3, 4-b] pyridine-3-carbonitrile ($C_{21}H_{22}N_5O_6S$) has been determined from single crystal X-ray diffraction data. In the title compound crystallizes in the monoclinic space group P-1 with unit cell dimension a=8.1201(9)${\AA}$, b=12.2684(4)${\AA}$ and c=12.387(2)${\AA}$ [${\alpha}=69.573^{\circ}$, ${\beta}=12.168^{\circ}$ and ${\gamma}=76.060^{\circ}$]. In the structure the pyrazole, pyridine and pyran are almost coplanar each other. The crystal packing is stabilized by intermolecular C-H...O and N-H... O hydrogen bond interaction.