Mutations in <i>PRPS1,</i> Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)

Kim, Hee-Jin,Sohn, Kwang-Min,Shy, Michael E.,Krajewski, Karen M.,Hwang, Miok,Park, June-Hee,Jang, Sue-Yon,Won, Hong-Hee,Choi, Byung-Ok,Hong, Sung Hwa,Kim, Byoung-Joon,Suh, Yeon-Lim,Ki, Chang-Seok,Lee, Elsevier 2007 American journal of human genetics Vol.81 No.3

<P>We have identified missense mutations at conserved amino acids in the <I>PRPS1</I> gene on Xq22.3 in two families with a syndromic form of inherited peripheral neuropathy, one of Asian and one of European descent. The disease is inherited in an X-linked recessive manner, and the affected male patients invariably develop sensorineural hearing loss of prelingual type followed by gating disturbance and visual loss. The family of European descent was reported in 1967 as having Rosenberg-Chutorian syndrome, and recently a Korean family with the same symptom triad was identified with a novel disease locus CMTX5 on the chromosome band Xq21.32-q24. <I>PRPS1</I> (phosphoribosyl pyrophosphate synthetase 1) is an isoform of the <I>PRPS</I> gene family and is ubiquitously expressed in human tissues, including cochlea. The enzyme mediates the biochemical step critical for purine metabolism and nucleotide biosynthesis. The mutations identified were E43D, in patients with Rosenberg-Chutorian syndrome, and M115T, in the Korean patients with CMTX5. We also showed decreased enzyme activity in patients with M115T. <I>PRPS1</I> is the first CMT gene that encodes a metabolic enzyme, shedding a new light on the understanding of peripheral nerve-specific metabolism and also suggesting the potential of <I>PRPS1</I> as a target for drugs in prevention and treatment of peripheral neuropathy by antimetabolite therapy.</P>

Inclusion of thin target and source regions in alimentary and respiratory tract systems of mesh-type ICRP adult reference phantoms

Kim, Han Sung,Yeom, Yeon Soo,Nguyen, Thang Tat,Choi, Chansoo,Han, Min Cheol,Lee, Jai Ki,Kim, Chan Hyeong,Zankl, Maria,Petoussi-Henss, Nina,Bolch, Wesley E,Lee, Choonsik,Qiu, Rui,Eckerman, Keith,Chung, Institute of Physics in association with the Ameri 2017 Physics in medicine & biology Vol. No.

<P>It is not feasible to define very small or complex organs and tissues in the current voxel-type adult reference computational phantoms of the International Commission on Radiological Protection (ICRP), which limit dose coefficients for weakly penetrating radiations. To address the problem, the ICRP is converting the voxel-type reference phantoms into mesh-type phantoms. In the present study, as a part of the conversion project, the micrometer-thick target and source regions in the alimentary and respiratory tract systems as described in ICRP <I>Publications 100</I> and <I>66</I> were included in the mesh-type ICRP reference adult male and female phantoms. In addition, realistic lung airway models were simulated to represent the bronchial (BB) and bronchiolar (bb) regions. The electron specific absorbed fraction (SAF) values for the alimentary and respiratory tract systems were then calculated and compared with the values calculated with the stylized models of ICRP <I>Publications 100</I> and <I>66</I>. The comparisons show generally good agreement for the oral cavity, oesophagus, and BB, whereas for the stomach, small intestine, large intestine, extrathoracic region, and bb, there are some differences (e.g. up to ~9 times in the large intestine). The difference is mainly due to anatomical difference in these organs between the realistic mesh-type phantoms and the simplified stylized models. The new alimentary and respiratory tract models in the mesh-type ICRP reference phantoms preserve the topology and dimensions of the voxel-type ICRP phantoms and provide more reliable SAF values than the simplified models adopted in previous ICRP <I>Publications</I>.</P>

동서양 사용자에 따른 온라인 인상 형성에 영향을 미치는 지각적 요소 : 3D 온라인 서비스 세컨드라이프를 중심으로

김자영(Kim Ja Young),박주연(Park Joo Yeon),한미지(Han Mi Ji),이미선(Lee Mi Sun),박수이(Park Su E) 한국디지털디자인학회 2012 디지털디자인학연구 Vol.12 No.2

오늘날, 다양한 문화권에서 많은 사람들이 소셜네트워크 서비스를 통하여 관계를 형성해나가고 있다. 이러한 관계 형성 과정 속에서 상대방의 인상을 형성하게 된다. 사용자는 상대방을 지각하여 인상을 형성하게 되는데, 이때에 사용자가 속한 문화권에 따라 지각하는 데에 차이가 있을 수 있다. 본 연구에서는 이를 바탕으로 가상공간 상에서 동서양 문화권의 사용자가 지각하는 인상 형성요소를 밝히고자 하였다. 이를 위해 먼저 참가자들을 모집하였다. 동양 문화권에서는 한국, 서양 문화권에서는 캐나다, 미국을 선정하였다. 이들 중 스크리닝 기준에 맞는 참가자들을 선별하여 이들을 대상으로 심층인터뷰를 진행하였다. 이들에게 대상의 어떠한 부분을 지각하여 인상을 형성하였는지를 중점으로 질문하였다. 이러한 인터뷰를 진행하여 얻은 데이터들을 기반으로 정성적, 정량적 방법의 두 가지 분석을 실시하였다. 첫 번째 정성적 분석 결과, 동양 문화권의 사용자와 서양 문화권의 사용자 모두 '대의적' 요소를 가장 많이 주목하여 인상을 형성한 것으로 나타났다. 두 문화권 모두 대상의 세세한 특징을 더 주목하여 인상을 형성하는 것으로 나타났다. 두 번째 정성적 분석 결과에서는 두 문화권에서 모두 지각한 동일한 요소 또한 3개의 요소 중 '대의적' 요소가 가장 많은 것으로 나타났다. 이를 제외한 각 문화권에서 지각한 요소들 부분에서 동양은 대상의 성격적 특성에 관한 요소들을 더 다양하게 지각하였다. 반면에 서양에서는 대상의 활동모습을 나타내는 요소들을 더 다양하게 지각하여 인상을 형성한 것으로 나타났다. 이러한 정성적 분석을 토대로 정량적 분석을 실시한 결과, 동양이 서양보다 '대의적', '관계적', '정황적' 3개의 요소 모두 더 지각하여 인상을 형성한 것으로 나타났다. Nowadays, people from diverse cultures are forming relationships through Social Network Service. People create one's impression when they form a relationship. In this process, the differences are shown subject to their cultural backgrounds. Especially the significant differences between eastern and western cultures emerge in perceiving things and environments. The aim of this study is to work out impression forming factors which are perceived by the users from eastern and western culture. In order to conduct the research, we took participants from each culture, and chose a number of Koreans as the participants from eastern countries and also a number of Canadians and Americans as the representative of western cultures. And we conducted in-depth interview with both side of participants. We showed them the experimental stimulus and questioned about which part of it they perceived to form the impression. Basing on the data from the research, we analysed the result through Ground Theory. As result of analysis, the more participants in Eastern perceived 'representational', 'relational' and 'contextual' factors than in Western.

온라인 공간에서의 지각적 인상차원과 문화의 관계 : 3D 온라인 서비스 '세컨드 라이프'를 대상으로

김자영(Kim Ja Young),한미지(Han Mi Ji),박주연(Park Joo Yeon),이미선(Lee Mi Sun),박수이(Park Su E) 한국디지털디자인학회 2012 디지털디자인학연구 Vol.12 No.1

현재, 소셜네트워크서비스(Social Network Service: SNS)는 다양한 문화권에서 선풍적인 인기를 끌고 있다. 이를 사용하는 목적은 다양한데, 주로 여러 사람들과 관계를 맺고 지속하기 위함이며, 새로운 정보를 교류하고자 함에 있다. SNS상에서 사람들은 관계를 맺으면서 상대방에 대한 인상을 형성하게 되는데, 이는 사용자의 문화성향에 따라 느끼는 인상이 달라질 수 있다. 본 연구는 이를 기반으로 최신기술로 각광받고 있는 3D SNS를 통해 온라인 지각적 인상과 문화차원 간의 관계를 밝히고자 한다. 이를 위하여, 다양한 문화권의 사용자들을 연구대상으로세 문화권 한국, 일본, 미국의 세컨드라이프 사용자들을 선정하였다. 이후, 이들에게 상대방의 아바타를 지각한 후 느끼는 인상과 사용자의 문화차원에 관하여 설문하였다. 이를 통해 얻은 데이터를 기반으로, 온라인 지각적 인상차원과 문화차원간의 관계를 분석하였다. 분석 결과, 'MF3_이기적이다' 인상차원과 '불확실성 회피성향'의 문화차원이 관계가 있는 것으로 나타났다. 이에 기반 하여 불확실성 회피성향 정도에 따라 'MF3_이기적이다' 인상차원을 지각하는 데에 차이가 있는지 보고자 하였다. 그 결과, '불확실성 회피성향'이 높을수록 'MF3_이기적이다' 인상차원을 낮게 지각하는 것으로 나타났다. 이러한 결과는 문화성향에 의해 지각하는 인상에 차이가 있을 수 있음을 보여준다. Social Network Service is gaining huge popularity in many countries. People use this when they have relationships with many people and maintain relationships with their friends. They get an impression from their partners when they communicate with their partners. At this time, user's cultural traits have an effect on forming their partner's impression. Based on this, the purpose of this study is to analyze the relationship between perceived e-impression and cultural dimension. For this goal, we recruited participants that use the second life in three countries (Korea, Japan, North America). A user survey was then conducted, focusing on e-impression and cultural dimensions. based on collected data from the survey, we analyzed the correlation between the perceived e-impression dimensions and the four cultural dimensions, 'MF3_Selfish' correlated with 'Uncertainty avoidance'. Users with lower uncertainty avoidance perceived the more 'Selfish' e-impression dimension than those with higher uncertainty avoidance.

배터리팩 내 셀 간 전기적 특성 균일도 차이에 의한 SOC 추정성능 비교분석

박진형(Jin-Hyeong Park),이평연(Pyeong-Yeon Lee),장성수(Sung-Soo Jang),김종훈(Jonghoon Kim) 전력전자학회 2019 전력전자학회 논문지 Vol.24 No.1

Reconstitution of in vitro transcription system using HeLa nuclear factors and purified calf thymus RNA polymerase Ⅱ

Dahmus, Michael E.,Kim, Woo-Yeon 中央大學校 遺傳工學硏究所 1995 遺傳工學硏究論集 Vol.8 No.1

HeLa 핵인자와 정제된 송아지흉선 RNA polymerase Ⅱ에 의한 재조합 전사체계의 확립을 위해 자체의 RNA polymerase Ⅱ를 HeLa S-100에서 제거하였다. HeLa S-100을 heparin-Sepharose CL-4B 칼럼에 loading한 후 0.6M KCl로 용리한 분획을 다시 DEAE-5PW 칼럼에서 분획하여 HeLa 세포 자체 RNA polymerase Ⅱ의 90%를 제거할 수 있었다. 여기에 정제된 송아지흉선 RNA polymerase Ⅱ를 첨가하면 in vitro 전사가 다시 가능하였으며 전사촉진인자를 첨가하여 전사된 RNA양이 여러 배수 증가함을 알 수 있었다. In n effort to reconstitute in vitro transcription system using HeLa nuclear factors and purified calf thymus RNA polymerase Ⅱ, endogenous RNA polymerase Ⅱ was removed from HeLa S-100. HeLa S-100 was fractionated on heparin-Sepharose CL-4B. Transcriptionally active fraction(H0.6), which was eluted with 0.6M KCl, was loaded onto DEAE-5PW and step-eluted with KCl. More than 90% of the endogenous RNA polymerase Ⅱ in H0.6 fraction could be removed from the fractions containing active transcription factors. Exogenous RNA polymerase Ⅱ(purified calf thymus RNA polymerase Ⅱ) could reconstitute in vitro transcription reaction with the fractions containing active transcription factors. Stimulatory factor, which is one of the transcription factor, was also shown to enhance the transcription several fold.

Effect of the Chelating Agents on the Phosphorylated Form of RNA Polymerase Ⅱ during Purification

Dahmus, Michael E.,Kim, Woo-Yeon 中央大學校 遺傳工學硏究所 1994 遺傳工學硏究論集 Vol.7 No.1

인산화된 calf thymus RNA polymeraseⅡ는 높은 농도의 chelating agent를 사용하여 정제될 수 있다. 본 연구의 목적은 높은 농도의 chelating agent가 calf thymus DNA를 이용한 비선택적 역가에 미치는 영향을 조사함에 있다. Calf thymus 핵 추출물의 4℃와 37℃에서의 변화를 protein blotting으로 조사한 결과, RNA polymerase Ⅱ0는 단백질 분해효소 저해제들에 의해 약간 안정화되었으며 20 mM EDTA와 10 mM EGTA 존재하에서는 4℃에서 43시간까지 변화하지 않았다. 높은 농도의 chelating agent 존재하에 Phenyl-Superose와 Mono Q에서 분리정제된 RNA polymerase ⅡO의 Mg²+과 Mn²+의 최적농도를 조사한 결과 0.1 mM EDTA 존재하에 정제된 RNA polymerase Ⅱ와 큰 차이가 없었다. The phosphorylated form of RNA polymerase Ⅱ could be purified from calf thymus using the buffer containing high concentrations of chelating agents. The objective of this study was to investigate the effect of high concentrations of chelating agents on the enzyme activity in nonselective assay using calf thymus DNA as DNA template. Calf thymus nuclear extracts were aged at either 4℃ of 37℃ and the stability of RNA polymerase ⅡO determined by protein blotting. RNA polymerase ⅡO was partially stabilized by the inclusion of protease inhibitors and stable for 43 hr at 4℃ in the presence of 20 mM EDTA and 10 mM EGTA. RNA polymerase ⅡO separated on Phenyl-Superose and Mono Q in the presence of buffer containing 20 mM EDTA and 10 mM EGTA dose not change appreciably the optimal concentration range for Mg²+ and Mn²+ compared to the RNA polymerase Ⅱ purified in the presence of 0.1 mM EDTA.

국내외 ‘영아’ 관련 연구물의 최근 동향 분석 : 2000년~2013년 발간 논문을 대상으로

이승연,권수현,권연정,김언경,나영이,유주연,최정아 이화여자대학교 교육과학연구소 2015 교육과학연구 Vol.46 No.3

The purpose of this study was to examine research trends in infant research published from 2000 to 2013, in order to understand overall aspects in research topics, methods, and subjects in infant research and to suggest directions for future infant research. A total of 2916 journal articles and theses/dissertations, both domestic and foreign, were selected for the analysis. The findings of this study were as follows: First, for the 14 year period, 737 domestic articles, 634 domestic theses/ dissertations, 1242 foreign articles, and 303 foreign dissertations on infant research were published, and there was a steady increase in the number of articles and theses/dissertations over the years. Second, in terms of research topics, different patterns were found between the domestic ones and the foreign ones; the topic of “education and teachers” in the domestic ones and “development” in the foreign ones occurred most frequently. Third, in terms of research methods, the domestic ones employed “survey” the most, and the foreign ones employed “experiment” the most among quantitative research methods; when analyzing the relation between methods and topics, the foreign ones showed clear matches between topics and research methods, while the domestic ones preferred “survey” regardless of the topics. Fourth, in terms of subjects/participants, “infants” were the most researched in both the domestic ones and the foreign ones, followed by “parent” and “teachers.” Among the infants, the domestic ones focused on 25~36-month olds the most, while the foreign ones focused most on 0~12-month olds. In addition, in all types of infant research, there were more single subject studies than multiple subject ones.

강화된 인증 키 동의 프로토콜

이승연(Seung-Yeon L),김영신(Kim Y.J.),허의남(Huh E.N) 한국정보과학회 2005 한국정보과학회 학술발표논문집 Vol.32 No.2

안전하지 않은 통신망에서 메시지 교환을 통하여 세션키를 공유하고 서로를 인증할 때 공격자는 사용자간 통신 중에 획득한 메시지를 그대로 사용하거나, 저장된 비밀 정보를 이용하여 정당한 사용자로 위장하여 불법적인 공격을 수행할 수 있다. 본 논문은 SAKA와 Tseng의 프로토콜을 개선 시켜 만든 Kim의 프로토콜을 기반으로 다중채널을 이용하여 공통 세션키를 생성하는 안정성이 강화된 효율적인 프로토콜을 소개 한다.

한우 어미소와 송아지의 행동 특성

한지훈,김동주,전중환,장홍희,구자민,김은정,이효종,연성찬 한국동물자원과학회 2004 한국축산학회지 Vol.46 No.1

This study was performed to investigate the behavioral characteristics of Hanwoo(Bos taurus coreanae) cows and their calves. Four cows and their calves were placed in pens. The behaviors of each cow and calf were recorded using a time lapse VCR from 07:00 h to 18:00 h for 6 days and were analyzed using the scan point sampling method. The cow's behaviors in order of frequency were LD(lying down, 25%), ST(standing, 23%), EA(eating, 13%), LR(lying down rumination, 10%) and SR(standing rumination, 7%). The cows spent less than 3% of their time PG(pairwise grooming) and SF(sniffing). The calves mainly showed LD(52%), ST(28%), LF(lying flat, 4%), EA(3%) and WA(walking, 3%). The calves spent less than 2% of their time SF(sniffing) and SUK(sucking). The behavioral patterns of cows and calves at 07:00 h, 12:00 h and 18:00 h were different, especially in ST and LD.