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KBG Syndrome: Review of the Literature

  • Jisun Park;Ji Eun Lee
    • Journal of Interdisciplinary Genomics
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    • v.5 no.2
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    • pp.13-17
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    • 2023
  • KBG syndrome (KBGS) is a multisystem disorder characterized by short stature, distinctive facial features including macrodontia of upper central permanent incisors, and developmental/cognitive delay. It is caused by variants or deletion of Ankyrin Repeat Domain 11 (ANKRD11) located in chromosome 16q24.3. Since its initial report in 1975, KBG syndrome has been recognized as an exceedingly rare disorder. However, recent advancements in genetic diagnostic techniques have led to an increase in both the diagnosis rate and the number of reported cases, contributing to a rapid increase in its global prevalence. We review the clinical aspects of KBGS, including previously reported and newly reported cases, as well as the related genetic patterns discovered so far.

G-Proteins Expressed in the Ocellus of the Hydromedusan, Spirocodon saltatrix.

  • Iwasa, Tatsuo;Shimazaki, Yumiko;Yamamoto, Masamichi;Ohtsu, Kohzoh
    • Journal of Photoscience
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    • v.9 no.2
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    • pp.278-280
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    • 2002
  • We have cloned a hydromedusan opsin cDNA and showed that the deduced amino acid sequence of the cytoplasmic loop between helices 5 and 6 (loop 5-6) was clearly different from that reported so far. The amino acid sequence of the loop 5-6 is important on determination of the specificity for the coupled G- protein. To clarify which class of G-protein mediates the phototransduction system in the ocellus of the hydromedusan, we investigated G-proteins expressed in the ocellus. By PCR against the cDNA of the ocellus with primers designed according to the conserved amino acid sequence in G-protein a subunit, we obtained three kinds of cDNA fragments. Based on the sequence similarities, ttwo of them (JGI and JG3) were classified as $G_{i}$ and $G_{q}$, respectively. The other one (JG2) was a new subtype within $G_{*}$ class. Electron microscopic immunocytochemistry with the antiserum against the C-terminal sequence of $G_{q}$ or $G_{t}$ revealed the presence. of the both classes in the ocellus. The similarity of the C-terminal sequence of the JG2 with that of bovine $G_{t}$ suggests that the anti- $G_{t}$ antiserum would bind to JG2. These results suggest the possibility that the hydromedusan rhodopsin decides the specificity for the coupled G-protein by the other domain than the loop 5-6.oop 5-6.5-6.

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Android based Local SNS (안드로이드기반 근거리 SNS)

  • Lee, Chung-Yeol;An, Beong-Ku;Ahn, Hong-Yeong
    • The Journal of the Institute of Internet, Broadcasting and Communication
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    • v.10 no.6
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    • pp.93-98
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    • 2010
  • Recently, users using social network service(SNS) with smart phone as well as users using smart phone are so rapidly increasing. In this paper, Android based local SNS system is proposed and developed. The main feature and contribution are as follows. First, the proposed SNS system is developed based on smart phone Android for supporting both the search of neighbor users and the addition of friends to start SNS with Web/DB. Second, the system is designed with the unchanged basic UI of Android and user oriented approach. The performance evaluation is performed by using OPTIMUS-Q/ANDROID 2.1. The results of performance evaluation show that the proposed SNS system can efficiently support the neighbor search services by using android based bluetooth neighbor search. Currently, we are still ongoing working on bluetooth autofaring in android to improve the performance of the proposed system.

A Study on the Development of Work-Crew Based Daily-Productivity for Representative B.O.Q Item in River Conservation Project (하천공사 대표공종의 작업조 구성 및 생산성 정보 개발)

  • Yoo, Duk-Yul;Park, Hyung-Keun;Lim, Hyeong-Min
    • KSCE Journal of Civil and Environmental Engineering Research
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    • v.33 no.6
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    • pp.2519-2528
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    • 2013
  • The standard of estimate is being used as basic material for appropriating construction expenses of public institutions and private institutions. The present thesis aims to propose a new form of a standard of estimate and a calculation method of work amount of equipment by targeting a representative construction type selected at river reservation work. The present thesis expects that the convenience of users can be expanded by improving applicability of a standard of estimate and simplifying a calculation process of work amount of equipment in a process planning stage so that the provision of work crew lineup information and daily productivity information is possible by a standard of estimate. In case of river conservation work, because the variables called work conditions act very largely, there exists much difficulty for generalizing productivity information and work amount of equipment, but if its accuracy could be enhanced by improving continuous productivity information and work amount information of equipment, the simplification of process planning establishment and cumulative process through a standard of estimate would be possible.

A Study on the Wild Exochorda serratifolia for Landscape Horticuitural Cultivation (야생 가침박탈(Exochorda serratifolia)의 조경원예화에 관한 연구)

  • 이기선;한교필;박원조;김일섭
    • Journal of the Korean Institute of Landscape Architecture
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    • v.15 no.2
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    • pp.139-148
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    • 1987
  • Exochorda serratifolia, broad-leaved shrub has beautiful flowers and is resistant to cold, shade and decease. New this native plant is considered to be worth being exploited as the outstanding plant for landscaping and horticulture. So this study was executed to utilize Exochorda serratifolia as the planting material for landscaping and horticulture through the survey of its habitat environment and the experimennt of its seed physiology and germination, vegetative propagation, culture and utilization, etc.. The results are as follows ; 1. The color of the flower is white, blooming in the early and middle of May and the seeds ripen late in Sep.. 2. The elevation, elevation, gradient and direction of the native habitat were 250m, 20-25$^{\circ}$and northern side respectively. 3. The soil pH of the natural habitat was 5.3 and soil fertility was poor. 4. Exochorda serratifolia appeared as indicator within P. densiflora community and its neighboring species were Q. mongolica, Q. dentata, R. mucronulatum, L. obtusiloba, E. oxyphillus, C. heterolphylla, var thunbergii, etc.. 5. The optimum temperature for seed germination was found at 20$^{\circ}C$ and the longer the stratification period at 5$^{\circ}C$ was, the lower the germination rate was. 6. The treat merits of GA and Kinetin increased the seed germination rate, especially under the dark condition but their high concentrations decreased the seed germination rate. 7. The rooted rate of the greenwood cutting was the highest at IBA 100ppm plot of vermiculite bed but its high concentration decreased the rooted rate conspicuously. 8. In the tissue culture, the each 1.0 ppd plot of NAA, Kinetin and NAA 1.0ppm + Kinetin showed the best growth. And the mixture of NAA 1.0ppm and Kinetin showed better growth than the single treatment of NAA or Kinetin did. 9. Transplanted Exochorda serratifolia showed healthy growth with shaded environmental condition(42.1% light intensity), therefore they can be cultivated as a shade tolerant landscape plant. 10. It was considered that Exochorda serratifolia was applicable to group planting at shade places or under trees in parks, homes, etc..

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Localization of Quantitative Trait Loci for Bone Mineral Density on Chromosome 13 in the Mongolian Population

  • Seo, Soo-Hyun;Lim, Hae-Jeng;Ahn, Se-Jin;Lee, Joseph;Kim, Jong-Il
    • Genomics & Informatics
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    • v.7 no.3
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    • pp.152-158
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    • 2009
  • Although the genetic basis for bone mineral density (BMD) has been studied by many groups so far, genes responsible for this complex trait has not been completely revealed. In order to localize quantitative trait loci (QTLs) for BMD variation in Asian population, the study was designed using a group of Mongolian population, a genetically closed population with a homogeneous lifestyle. BMD was measured at the left and right wrists and ankles using DEXA in 1,082 participants from 142 families. Genotyping of 13 polymorphic microsatellite markers on chromosome 13 (average spacing 8-9 cM) and two-point and multipoint linkage analysis were performed. In two-point linkage analysis, we identified two markers, D13S175 (6.03 cM) and D13S265 (68.73 cM) that had LOD scores greater than 1 for left ankle (LOD=2.09, LOD=1.49, respectively). We also found a marker D13S175 (6.03 cM) with a high LOD for left wrist (LOD=1.49) and the markers D13S265 (68.73 cM) and D13S217 (17.21 cM) for the right wrist (LOD= 1.82, LOD= 1.62, respectively). Among these significant marker regions, only two regions at 17 cM (13p11) and 65 cM (13q21) for the right wrist overlapped with major QTLs reported in following multipoint linkage analysis (LOD= 1.7549, LOD=1.4462, respectively). This study provides the possible evidence of the presence of QTLs affecting right wrist BMD in Mongolian populations on 13p11 and 13q21. Modest evidence was also found for genes affecting left ankle and left wrist BMD on 13p13.

The Design and Implementation of Learner-Analyzing System in the Web-based Distance Education (Web기반 원격교육에서 학습자 분석 시스템의 설계 및 구현)

  • Choi, Kyung-Ho;Lee, Soo-Jung;Lee, Jae-Ho
    • Journal of The Korean Association of Information Education
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    • v.5 no.1
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    • pp.17-29
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    • 2001
  • As the result of the rapid development of communication technology makes the circumstance and method of education change, distance education is adapted to new fields of education so that students can be educated what they need in the time and space which they want instead of relying on the existing physical frameworks. In this paper Learner-Analysing System was designed and implemented in the distance education based on the web. For the easy access and the demand of customers, this Learner-Analysing System is composed of the Q&A-processing module which can produce proper results for questions and acquisitions of their own study materials through efficient search, and the student-analyzing module for reinforcement of feedback through correct analysis.

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One-step microwave synthesis of magnetic biochars with sorption properties

  • Zubrik, Anton;Matik, Marek;Lovas, Michal;Stefusova, Katarina;Dankova, Zuzana;Hredzak, Slavomir;Vaclavikova, Miroslava;Bendek, Frantisek;Briancin, Jaroslav;Machala, Libor;Pechousek, Jiri
    • Carbon letters
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    • v.26
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    • pp.31-42
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    • 2018
  • Adsorption is one of the best methods for wastewater purification. The fact that water quality is continuously decreasing requires the development of novel, effective and cost available adsorbents. Herein, a simple procedure for the preparation of a magnetic adsorbent from agricultural waste biomass and ferrofluid has been introduced. Specifically, ferrofluid mixed with wheat straw was directly pyrolyzed either by microwave irradiation (900 W, 30 min) or by conventional heating ($550^{\circ}C$, 90 min). Magnetic biochars were characterized by X-ray powder diffraction, $M{\ddot{o}}ssbauer$ spectroscopy, textural analysis and tested as adsorbents of As(V) oxyanion and cationic methylene blue, respectively. Results showed that microwave pyrolysis produced char with high adsorption capacity of As(V) ($Q_m=25.6mg\;g^{-1}$ at pH 4), whereas conventional pyrolysis was not so effective. In comparison to conventional pyrolysis, one-step microwave pyrolysis produced a material with expressive microporosity, having a nine times higher value of specific surface area as well as total pore volume. We assumed that sorption properties are also caused by several iron-bearing composites identified by $M{\ddot{o}}ssbauer$ spectroscopy ([super] paramagnetic $Fe_2O_3$, ${\alpha}-Fe$, non-stoichiometric $Fe_3C$, ${\gamma}-Fe_2O_3$, ${\gamma}-Fe$) transformed from nano-maghemite presented in the ferrofluid. Methylene blue was also more easily removed by magnetic biochar prepared by microwaves ($Q_m=144.9mg\;g^{-1}$ at pH 10.9) compared to using conventional techniques.

Introduction and Application of Worst Case Analysis in Space Environment (우주 환경에서의 Worst Case Analysis에 대한 소개와 응용 예)

  • Lee, Yun-Ki;Kwon, Ki-Ho;Kim, Day-Young;Lee, Sang-Kon
    • Aerospace Engineering and Technology
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    • v.7 no.2
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    • pp.58-66
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    • 2008
  • In the space environment, many other things to design electronic circuits should be considered with respect to commercial circuit design. The first thing is that electronics in space are likely to be exposed to radiation effects and the second thing is that it is impossible to repair or replace electronic parts after once spacecraft was launched. In this severe situation, very strict and tight worst case analysis conditions should be applied to the electronics in space environment to do its own function well without any problems during the overall mission period. So this paper summarizes worst case input conditions and methods which are specified in the ESA Worst Case Analysis Specification (ECSS-Q-30-01A) and proposes the results of Worst Case Analysis for one simple electronic circuit which is implemented at a real On-Board Computer in the Low Earth Orbit Satellite.

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New surveillance concepts in food safety in meat producing animals: the advantage of high throughput 'omics' technologies - A review

  • Pfaffl, Michael W.;Riedmaier-Sprenzel, Irmgard
    • Asian-Australasian Journal of Animal Sciences
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    • v.31 no.7
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    • pp.1062-1071
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    • 2018
  • The misuse of anabolic hormones or illegal drugs is a ubiquitous problem in animal husbandry and in food safety. The ban on growth promotants in food producing animals in the European Union is well controlled. However, application regimens that are difficult to detect persist, including newly designed anabolic drugs and complex hormone cocktails. Therefore identification of molecular endogenous biomarkers which are based on the physiological response after the illicit treatment has become a focus of detection methods. The analysis of the 'transcriptome' has been shown to have promise to discover the misuse of anabolic drugs, by indirect detection of their pharmacological action in organs or selected tissues. Various studies have measured gene expression changes after illegal drug or hormone application. So-called transcriptomic biomarkers were quantified at the mRNA and/or microRNA level by reverse transcription-quantitative polymerase chain reaction (RT-qPCR) technology or by more modern 'omics' and high throughput technologies including RNA-sequencing (RNA-Seq). With the addition of advanced bioinformatical approaches such as hierarchical clustering analysis or dynamic principal components analysis, a valid 'biomarker signature' can be established to discriminate between treated and untreated individuals. It has been shown in numerous animal and cell culture studies, that identification of treated animals is possible via our transcriptional biomarker approach. The high throughput sequencing approach is also capable of discovering new biomarker candidates and, in combination with quantitative RT-qPCR, validation and confirmation of biomarkers has been possible. These results from animal production and food safety studies demonstrate that analysis of the transcriptome has high potential as a new screening method using transcriptional 'biomarker signatures' based on the physiological response triggered by illegal substances.