• Title/Summary/Keyword: Grb2

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Clinical and Laboratory Features to Consider Genetic Evaluation among Children and Adolescents with Short Stature

  • Seokjin Kang
    • Journal of Interdisciplinary Genomics
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    • v.5 no.2
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    • pp.18-23
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    • 2023
  • Conventional evaluation method for identifying the organic cause of short stature has a low detection rate. If an infant who is small for gestational age manifests postnatal growth deterioration, triangular face, relative macrocephaly, and protruding forehead, a genetic testing of IGF2, H19, GRB10, MEST, CDKN1, CUL7, OBSL1, and CCDC9 should be considered to determine the presence of Silver-Russell syndrome and 3-M syndrome. If a short patient with prenatal growth failure also exhibits postnatal growth failure, microcephaly, low IGF-1 levels, sensorineural deafness, or impaired intellectual development, genetic testing of IGF1 and IGFALS should be conducted. Furthermore, genetic testing of GH1, GHRHR, HESX1, SOX3, PROP1, POU1F1, and LHX3 should be considered if patients with isolated growth hormone deficiency have short stature below -3 standard deviation score, barely detectable serum growth hormone concentration, and other deficiencies of anterior pituitary hormone. In short patients with height SDS <-3 and high growth hormone levels, genetic testing should be considered to identify GHR mutations. Lastly, when severe short patients (height z score <-3) exhibit high levels of prolactin and recurrent pulmonary infection, genetic testing should be conducted to identify STAT5B mutations.

The Spectral Sharpness Angle of Gamma-ray Bursts

  • Yu, Hoi-Fung;van Eerten, Hendrik J.;Greiner, Jochen;Sari, Re'em;Bhat, P. Narayana;Kienlin, Andreas von;Paciesas, William S.;Preece, Robert D.
    • Journal of Astronomy and Space Sciences
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    • v.33 no.2
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    • pp.109-117
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    • 2016
  • We explain the results of Yu et al. (2015b) of the novel sharpness angle measurement to a large number of spectra obtained from the Fermi gamma-ray burst monitor. The sharpness angle is compared to the values obtained from various representative emission models: blackbody, single-electron synchrotron, synchrotron emission from a Maxwellian or power-law electron distribution. It is found that more than 91% of the high temporally and spectrally resolved spectra are inconsistent with any kind of optically thin synchrotron emission model alone. It is also found that the limiting case, a single temperature Maxwellian synchrotron function, can only contribute up to 58+23−18% of the peak flux. These results show that even the sharpest but non-realistic case, the single-electron synchrotron function, cannot explain a large fraction of the observed spectra. Since any combination of physically possible synchrotron spectra added together will always further broaden the spectrum, emission mechanisms other than optically thin synchrotron radiation are likely required in a full explanation of the spectral peaks or breaks of the GRB prompt emission phase.

Development of ELISA Method for the Determination of Compound K (Compound K 측정을 위한 ELISA법 개발)

  • Ryu, Mina;Li, Hai Guang;Sung, Jong Hwan;Sung, Chung Ki
    • Korean Journal of Pharmacognosy
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    • v.46 no.4
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    • pp.279-282
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    • 2015
  • In order to quantify compound K(CK), anticancer component of Panax ginseng C. A. Meyer, high titer rabbit polyclonal antibodies (pAbs) were raised against a conjugate of CK and bovine serum albumin coupled by a periodate oxidation method. Coating antigen (CK-OVA) was also prepared by the same method with OVA. As a result of optimization of antiserum dilution (2,000 fold), coating antigen ($25{\mu}g/ml$) and other condition (incubation time, temperature and washing method), ELISA method for the determination of CK was established. The measuring range extended from 0.5 ng/ml to 25 ng/ml of CK. The antibodies exhibited minor or even no cross reactivities with protopanaxatriol (1.56%) and other tested ginsenosides, $GRb_1$ (0.11%), $GRg_1$ (0.07%) except protopanaxadiol (87.2%) from the structural similarity. And the antibody showed good correlation (r=0.987) between the assay values obtained by this ELISA method and HPLC. Therefore, the ELISA method could be very useful tools for the determination of CK in biological fluids because of their high sensitivity and specificity.

Comparative Analysis of Repetitive Elements of Imprinting Genes Reveals Eleven Candidate Imprinting Genes in Cattle

  • Kim, HyoYoung;Kim, Heebal
    • Asian-Australasian Journal of Animal Sciences
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    • v.22 no.6
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    • pp.893-899
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    • 2009
  • Few studies have reported the existence of imprinted genes in cattle compared to the human and mouse. Genomic imprinting is expressed in monoallelic form and it depends on a single parent-specific form of the allele. Comparative analysis of mammals other than the human is a valuable tool for explaining the genomic basis of imprinted genes. In this study, we investigated 34 common imprinted genes in the human and mouse as well as 35 known non-imprinted genes in the human. We found short interspersed nuclear elements (SINEs), long interspersed nuclear elements (LINEs), and long terminal repeats (LTRs) in imprinted (human and mouse) and control (cattle) genes. Pair-wise comparisons for the three species were conducted using SINEs, LINEs, and LTRs. We also calculated 95% confidence intervals of frequencies of repetitive sequences for the three species. As a result, most genes had a similar interval between species. We found 11 genes with conserved SINEs, LINEs, and LTRs in the human, mouse, and cattle. In conclusion, eleven genes (CALCR, Grb10, HTR2A, KCNK9, Kcnq1, MEST, OSBPL5, PPP1R9A, Sgce, SLC22A18, and UBE3A) were identified as candidate imprinted genes in cattle.

Novel p104 protein regulates cell proliferation through PI3K inhibition and p27Kip1 expression

  • Han, Seung-Jin;Lee, Jung-Hyun;Choi, Ki-Young;Hong, Seung-Hwan
    • BMB Reports
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    • v.43 no.3
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    • pp.199-204
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    • 2010
  • The protein p104 was first isolated as a binding partner of the Src homology domain of phospholipase C$\gamma$1, and has been shown to associate with p85$\alpha$, Grb2. The ectopic expression of p104 reduced cellular growth rate, which was also achieved with the overexpression of only the proline-rich region of p104. The proline-rich region of p104 has been found to inhibit the colony formation of platelet-derived growth factor BB-stimulated NIH3T3 cells and MCF7 cancer cells on soft agar. Mutagenesis analysis showed that the second and third proline-rich regions are essential for growth control, as well as for interaction with p85$\alpha$. Overexpression of p104 increased the level of the cyclin-dependent kinase inhibitor, $p27^{Kip1}$, and inhibited the activity of phosphoinositide 3-kinase (PI3K). In summary, p104 interacts with p85$\alpha$ and is involved in the regulation of $p27^{Kip1}$ expression for the reduction of cellular proliferation.

Development of ELISA System for Screening of Specific Binding Inhibitors for Src Homology (SH)2 Domain and Phosphotyrosine Interactions

  • Lee, Sang-Seop;Lee, Kyung-Im;Yoo, Ji-Yun;Jeong, Moon-Jin;Park, Young-Mee;Kwon, Byoung-Mog;Bae, Yun-Soo;Han, Mi-Young
    • BMB Reports
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    • v.34 no.6
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    • pp.537-543
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    • 2001
  • In the present study, an in vitro ELISA system to assess the interaction between Src homology (SH)2 domains and phosphotyrosine that contain peptides was established using purified GST-conjugated SH2 proteins and synthetic biotinylated phosphotyrosine that contain oligopeptides. The SH2 domains bound the relevant phosphopeptides that were immobilized in the streptavidin-coated microtiter plate in a highly specific and dose-dependent manner. The epidermal growth factor receptor (EGFR)-, T antigen (T Ag)-, and platelet-derived growth factor receptor (PDGFR)-derived phosphopeptides interacted with the growth factor receptor binding protein (Grb)2/SH2, Lck/SH2, and phosphatidyl inositol 3-kinase (PI3K) p85/SH2, respectively. No cross-reactions were observed. Competitive inhibition experiments showed that a short phosphopeptide of only four amino acids was long enough to determine the binding specificity. Optimal concentrations of the GST-SH2 fusion protein and phosphopeptide in this new ELISA system for screening the binding blockers were chosen at 2nM and 500nM, respectively. When two candidate compounds were tested in our ELISA system, they specifically inhibited the Lck/SH2 and/or p85/SH2 binding to the relevant phosphopeptides. Our results indicate that this ELISA system could be used as an easy screening method for the discovery of specific binding blockers of protein-protein interactions via SH2 domains.

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Camera for Quasars in Early Universe

  • Park, Won-Kee;Pak, Soojong;Im, Myungshin;Choi, Changsu;Jeon, Yiseul;Chang, Seunghyuk;Jeong, Hyeonju;Lim, Juhee;Kim, Eunbin;Choi, Nahyun;Lee, Hye-In;Kim, Sanghyuk;Jeong, Byeongjoon;Ji, Taegeun
    • The Bulletin of The Korean Astronomical Society
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    • v.38 no.2
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    • pp.68.2-68.2
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    • 2013
  • Camera for QUasars in EArly uNiverse (CQUEAN) is an optical CCD camera system made by Center for Exploration of the Origin of the Universe (CEOU). CQUEAN is developed for follow-up observation of red sources such as high-redshift quasar candidates ($z{\geq}5$), gamma-ray bursts (GRB), brown dwarfs and young stellar objects. The CQUEAN is composed of a science camera with deep-depletion CCD chip which is sensitive at around $1{\mu}m$, a set of custom-made wide-band filters for detection of quasar candidates at z~5, and a guide camera. A focal reducer was developed to secure $4.8^{\prime}{\times}4.8^{\prime}$ field of view, and an in-house user software for efficient data acquisition. CQUEAN was attached to 2.1m Otto Struve Telescope in McDonald Observatory, USA, in August 2010. About 1000 quasar candidates including 3 confirmed with follow-up spectroscopy, have been observed so far, and many high-z galaxy cluster candidates, GRBs and supernovae were also observed. And monitoring of HBC 722, a young stellar object, is under way since 2011. Further enhancement of CQUEAN including the introduction of narrow-band filters is planned.

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The Electronics system of the Ultra Fast Flash Observatory Pathfinder

  • Kim, Ji Eun;Choi, Ji Nyeong;Choi, Yeon Ju;Jeong, Soomin;Jung, Aera;Kim, Min Bin;Kim, Sug-Whan;Kim, Ye Won;Lee, Jik;Lim, Heuijin;Min, Kyung Wook;Na, Go Woon;Park, Il Hung;Ripa, Jakub.;Suh, Jung Eun
    • The Bulletin of The Korean Astronomical Society
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    • v.37 no.2
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    • pp.207.2-207.2
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    • 2012
  • The Ultra Fast Flash Observatory (UFFO) pathfinder consists of the UFFO Burst Alert X-ray Trigger telescope (UBAT) and the Slewing Mirror Telescope (SMT). They are controlled by the UFFO Data Acquisition system (UDAQ). The UBAT triggers Gamma-Ray Bursts(GRBs) and sends the position information to the SMT. The SMT slews the motorized mirror rapidly to the GRB position to take the UV/Optical data within a second after trigger. The UDAQ controls each instrument, communicates with the satellite, collects the data from UBAT and SMT, and transfers them to the satellite. Each instrument uses its own field programmable gates arrays (FPGA) for low power consumption and fast processing, and all functions are implemented in FPGAs without using microprocessors. The entire electronics system of the UFFO pathfinder including architecture, control, and data flow will be presented.

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Overexpression of Mouse Nck Transforms Mouse Febroblast NIH3T3

  • Kim, Young H.;Han, Sun-Mi;Kim, Moon G.;Park, Dong-Eun;Park, Sang D.;Seong, Rho H.
    • Animal cells and systems
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    • v.1 no.3
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    • pp.521-526
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    • 1997
  • We isolated a mouse nck cDNA from the thymus cDNA expression library. The cDNA encodes a 377 amino acid protein and displays 97% amino acid sequence identity to human oncogenic protein nck, which is composed almost exclusivelv of three src homology 3 (SH3) domains and one SH2 domain. The sequence analysis also showed that the isolated cDNA is the mouse counterpart of the human nck and different from the mouse grb4, which has been reported to be highly similar to the human nck and, therefore considered as a mouse nck, Northern blot analysis showed that the transcript of the gene was 1.8 kb and was highly expressed in the testis, thymus, and brain but moderately in the liver and lymph node. Western blot analysis showed that the size of the protein was about 47 kDa. Overexpression of the mouse Nck transformed a mouse fibroblast cell line, NIH3T3. The results clearly indicate that normal nck gene has transforming ability and provide an argument against a suggested possibility that the transforming ability of the human nck gene is due to a mutation(s) in the gene.

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Performance Measurement of SMT(Slewing Mirror Telescope) Optical System

  • Ahn, Ki-Beom;Jeong, Soo-Min;Kim, Ji-Eun;Kim, Sug-Whan;Lee, Jik;Lim, Heui-Jin;Lindere, V.;Nam, Ji-Woo;Nam, Koo-Hyun;Park, Il-H.;Smoot, G.F.
    • Bulletin of the Korean Space Science Society
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    • 2011.04a
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    • pp.23.1-23.1
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    • 2011
  • The SMT is a subsystem of the UFFO (Ultra-Fast Flash Observatory) pathfinder onboard the Lomonosov spacecraft planed to be launched in November 2011. The UFFO is designed for extremely fast observation of optical afterglow of Gamma Ray Burst (GRB). This study is primarily concerned with performance measurement of the SMT optical system under the integration and test phase. SMT is a 100mm Ritchey-Chretien type telescope with a motorized slewing mirror and a $256{\times}256$ pixels Intensified Charge-Coupled Device (ICCD) of 22.2${\mu}m$ in pixel size. SMT is designed to operate over the wavelength coverage between 200 nm and 650 nm. It has 17 arcmin FOV (Field of View), providing 4arcsec in detector pixel resolution. In this study, we describe the integration and test process of the SMT optical system and interim performance measurement results with motorized slewing mirror and ICCD.

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