A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome

김수진,조성윤,맹세현,손영배,김수진,기창석,진동규 대한소아청소년과학회 2013 Clinical and Experimental Pediatrics (CEP) Vol.56 No.8

Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability,and multiple congenital abnormalities. KS is inherited in an autosomal dominant manner. As the primary cause of KS, MLL2 mutations have been identified in 56–76% of affected individuals who have been tested,suggesting that there may be additional genes associated with KS. Recently, a few KS individuals have been found to have de novo partial or complete deletions of an X chromosome gene, KDM6A , which encodes a histone demethylase that interacts with MLL2 . Nevertheless, mutations in MLL2 are the major cause of KS. Although there are a few reports of KS patients in Korea, none of these had been confirmed by genetic analysis. Here, we report a case of a Korean patient with clinical features of KS. Using direct sequencing,we identified a frameshift heterozygous mutation for MLL2 : (c.5256_5257delGA;p.Lys1753Alafs*34). Clinically, the patient presented with typical facial features, and diagnosis of KS was based on the diagnostic criteria. While KS is a rare disease, other malformations that overlap with those found in individuals with KS are common. Hence, the diagnosis of KS by mutational analysis can be a valuable method for patients with KS-like syndromes. Furthermore, in the near future, other genes could be identified in patients with KS without a detectable MLL2 mutation.

[김수진_당선작] 이터널 선샤인 외 3편

김수진 고요아침 2022 열린시학 Vol.27 No.1

反語文における〈指示詞の使用〉に関する研究

金秀珍 중앙대학교 일본연구소 2015 日本 硏究 Vol.0 No.39

In this study, a rhetorical grammar device known as 〈the use of references〉 was taken into consideration that oriented around rhetorical questions of the Korean and the Japanese language. When expressing rhetorical sentences, both countries had in common - the many uses of rhetorical references and [geu/so series] - but the following differences were found through a detailed analysis. One can analyze that the references included assessments of the narrator as the demonstrative pronouns that refer to objects or people often followed a context that expresses an independent assessment of the narrator. However, references referring to places are used as an expression of simple reference that puts the location of the narrator as a standard location and therefore not interpreted as being evaluated. Demonstrative adjectives, especially [i-reon, geu-reon, jeo-reon (konna, sonna, anna)] in Korean often uses a sentence structure of [(i-reon, geu-reon, jeo-reon) + noun + i/ga eo-di-seo-yo?]. Japanese often uses a noun phrase such as [(konna, sonna, anna) + adjective (substantial expression) + noun] to deliver the assessment of the narrator. There are fewer examples of rhetorical adverbs in both languages. In Korean, there are many expressions including [i-reo-ke] such as [ni-ga na-han-te eo-tteo-ke i-reol su i-seo?] while in Japanese, one cannot put it in a sentences structure, the rhetorical adverb itself contains the meanings of the evaluation, and therefore can read the evaluation of the speaker from the entire rhetorical sentence.

울진 연 · 아연 광상에서 산출되는 Ca 석류석의 결정화학 : 광물분광학적 연구 A Study of Mineral Spectroscopy

김수진,노진환,최진범 한국광물학회 1988 한국광물학회지 Vol.1 No.1

증숙처리에 따른 재래생강 및 중국종자생강의 항산화 및 기능성물질 비교

김수진,김종신,김민지,강지연,최현정,김소연,이하은,권태혁,강미숙,Su-Jin Kim,Jong-Sin Kim,Min-Ji Kim,Ji-Yeon Kang,Hyeon-Jeong Choi,So-Yeon Kim,Ha-Euu Lee,Tae-Hyuk Kwon,Mee-Sook Kang 한국식품위생안전성학회 2023 한국식품위생안전성학회지 Vol.38 No.4

The aim of this study was to compare the antioxidant activities and functional contents of Korean conventional and Chinese seed gingers from the Jeollabuk-do Wanju and Chungcheongnam-do Seosan regions. Ginger samples were subjected to steaming treatments for different durations (2-8 h) at 121℃ using an autoclave. The antioxidant activity was evaluated by measuring total polyphenol and flavonoid contents and ABTS and DPPH radical scavenging activities, while functional ingredient contents were analyzed for gingerols and shogaols. The results showed that Wanju conventional seed ginger (WO-2) had the highest total polyphenol (85.24 mg GAE/g) and flavonoid (98.14 RE/100 g) contents, surpassing that of the control in all steamed groups at 6 h. ABTS radical scavenging activity showed a strong correlation with total polyphenol and flavonoid contents. The control groups indicated that Korean conventional seed ginger had 1.0-1.3 times higher gingerol contents compared to Chinese seed ginger. Furthermore, the content of shogaols, considered major functional ingredients, increased significantly with longer steaming durations, reaching the highest content (1,793 mg/kg) at 8 h, which was 1.0-1.8 times higher in Korean conventional seed ginger than that in Chinese seed ginger. These experiments provide valuable data supporting the excellence of Korean conventional seed ginger in the future.

하동 - 산청 고령토 중의 함철광물 연구

김수진 한국광물학회 1988 광물과 암석 (J.Miner.Soc.Korea) Vol.1 No.1

심장이식 후 스트레스와 삶의 질과의 관계 연구

김수진 제주한라대학 2002 論文集 Vol.26 No.-

This descriptive, correlational study was carried out in order to a) investigate the perceived stress and quality of life, b) to identify the relationship between the stress and quality of life of recipients who have undergone heart transplantation and c) to provide data for their care in clinical situations. The subjects in this study were 73 heart transplant recipients who received regular follow up in the Out Patient Departments of 1 university hospitals in Seoul. The data was collected during the period from November 20, 2000 to December , 2001. The instruments used for this study were as follows : The stress instruments used in this study were a stress questionnaire which modified the instruments developed by Jalowiec, Grady & Grusk(1988), Heart Transplant Stressor Scale. The instrument to measure the quality of life in this study was Quality if Life developed by Cho Hyun Sook. The data was analyzed by the SPSS program using descriptive statistics & Pearson correlation coefficient. The results were as follows : 1. The range of stress or the scores of the subjects was from 77 to 308. The mean score was 182.3(SD=3.8). 2. The range of Quality of life scores of the subjects was from 20 to 80. The mean score was 52.6(SD=11.9). 3. The relationship between stress and the quality of life revealed a significant negative correlation (r=-.577, p=.000). In conclusion, this study revealed that the stress and quality of life of heart transplant recipients have a significant correlation. The results of this study might help nurses and other health care workers to consult effectively, to educate, to give pre operational information, to prepare education for the period following the discharge, and to develop interventions for self-care reinforcement.

K-POP 팬덤과 한국의 국가 명성: 미국의 BTS 팬 중심 분석

김수진,이혜은 한국공공외교학회 2023 공공외교: 이론과 실천 Vol.3 No.1

연구목적: 본 연구의 목적은 한류의 다양화와 함께 이루어진 K-POP의 확산이 한국의 국가 명성에 어떤 영향을 미치는지 알아보는 데있다. 해외 시장에서의 K-POP 열풍은 기대 이상의 성과와 긍정적인 평가로 대내외적인 경제적 파급효과를 가져왔고, 디지털 매체를통한 온라인 시장의 확대로 인해 더욱 가속화되었다. 뿐만 아니라, K-POP 스타들은 그들과 관련된 다양한 상품과 서비스를 소비하고팬 활동을 펼칠 수 있는 온라인 공간을 만드는 등 팬덤과의 상호작용이 다양해지고 있다. 이러한 점에 착안하여 본 연구에서는 팬덤이공동체를 형성하고 미디어를 활용함으로써 이루어지는 K-POP 스타와의 준사회적 관계를 통해 국가 명성에 대한 K-POP의 관련성을검토하고자 한다. 연구방법: 미국에 거주하고 있는 BTS 팬을 대상으로 아마존 설문조사회사인 Mechanical Turk를 이용하여, 영어로 온라인 설문조사를진행했다. 불성실한 응답을 제외한 총 195명의 데이터를 분석에 사용했다. 연구결과: 한국의 국가 명성에 대한 BTS 팬의 소셜미디어 이용의 영향력을 상정한 <연구문제 1>의 분석결과, BTS팬의 소셜미디어 참여 활동 그 자체만으로는 한국의 국가 명성에 영향을 미치지 않았다. BTS 팬의 준사회적 상호작용의 매개효과를 전제한 <연구문제 2> 의 분석결과, BTS 팬의 소셜미디어 참여 활동은 BTS와의 준사회적 관계에 긍정적인 영향을 미치고, BTS와의 준사회적 관계는 국가명성에 긍정적인 영향을 미치는 것으로 나타났다. 결론 및 제언: 한국의 국가 명성에 대한 BTS 팬의 소셜미디어 이용과 참여는 그 자체로는 유의한 영향이 없으나 준사회적 관계를 형성하여 국가 명성에 영향을 미치는 것으로 나타났다. 연구결과를 통해 볼 때, K-POP 팬의 준사회적 관계는 국가이미지를 제고하고, 한국의 국가 명성을 높이는 전략적 기제로 활용할 수 있다. 미디어 효과 차원에서 다양한 팬덤 연구가 이루어져 왔고, 국제커뮤니케이션의 영역에서 국가이미지에 대한 다양한 논의가 이루어져 왔지만, 공공외교의 관점에서 팬덤과 국가 명성의 관련성을 실증적으로 연구한 경우는 매우 드물다. 따라서 본 연구는 인접 학문의 학제간 연구를 시도함으로써 국가 명성에 대한 전략적 방향을 제안하고자 한점에 학문적 의미와 실용적 의미가 있다. Objectives: This study aims to discover how the spread of K-POP and the diversification of the Korean Wave affects Korea's national reputation. K-POP stars are diversifying their interactions with fandom by creating an online space to consume various products and services related to their stars and engage in fan activities. Because of this, this study aims to examine the relevance of K-POP to national reputation through a parasocial relationship with K-POP stars by fandom forming a community and utilizing media. Methods: An online survey was conducted in English using the Amazon survey company Mechanical Turk for BTS fans living in the United States. A total of 195 people's data, excluding incomplete responses, were used for the analysis. Results: It was found that BTS fans' social media participation activities themselves did not directly affect Korea's national reputation. But the mediating effect of BTS fans' parasocial relationship was found. That is, BTS fans' social media participation activities had a positive effect on their parasocial relationships with BTS which in turn had a positive effect on their national reputation. Conlusions: The use and participation of BTS fans in social media in Korea's national reputation has no significant effect on itself, but it has been found that it affects the national reputation through forming parasocial relationships. From the study results, the parasocial relationship of K-POP fans can be used as a strategic mechanism to enhance the national image and Korea's national reputation.

접촉분해경유에 함유된 2,6- dimethylnaphthalene 의 분리 , 정제 (Ⅱ) - Dimethylnaphthalene 이성체 성분간 분리 -

김수진,김상채,천기순이랑 (川崎順二郞) ( Su Jin Kim,Sang Chai Kim,Junjiro Kawasaki ) 한국공업화학회 1996 공업화학 Vol.7 No.5

접촉분해경유(LCO)중에 함유된 2,6-dimethylnaphthalene(2,6-DMNA)의 분리, 정제를 위한 후처리조작으로서 고농도의 dimethylnaphthalene(DMNA) 이성체 혼합물을 함유한 유출액으로부터 2,6-DMNA의 정제를 정석-재결정의 조합에 의해 검토했다. 유출액의 정석에 의해 회수된 결정중에는 2,6-DMNA, 2,7-dimethylnaphthalene(2,7-DMNA)과 2,3-dimethylnaphthalene(2,3-DMNA)이 농축되어, 이들 3 이성체와 그 외의 DMNA 이성체간 분리는 가능하였으나, 2,6-, 2,7-과 2,3-DMNA 이성체간의 분리는 곤란했다. 2,6-DMNA의 정제에 적합한 용매의 선정을 위해, 재결정 용매로 Hexane, iso-propyl ether, ethyl acetate와 ethanol을 사용하여 2,6-과 2,7-DMNA의 용해도를 측정한 결과, 2,6-DMNA의 정제에는 ethanole이 가장 적합한 용매이었다. 또, 원료로 정석에서 회수된 결정을, 용매로 ethanol을 사용하여 재결정을 행해 2,6-DMNA의 정제에 대한 조작인자의 영향을 검토한 결과, 재결정 온도의 상승 및 용매/원료 질량비가 증가함에 따라서 2,6-DMNA의 정제는 용이했다. 본 연구에서 채용한 정석-재결정법은 DMNA 이성체 성분간 분리에 대한 유효한 분리조합의 하나임이 입증되었다. Purification of 2,6-dimethylnaphthalene(2,6-DMNA) from the distillate containing a mixture of dimethylnaphthalene(DMNA) isomers of very high concentration was investigated by crystallization-recrystallization combination as a after-treatment for separation and purification of 2,6-DMNA in the light cycle oil(LCO). The separation of individual isomers of DMNA was studied by crystallization with the distillate as a feed. 2,6-DMNA, 2,7-dimethylnaphthalene(2,7-DMNA) and 2,3-dimethylnaphthalene(2,3-DMNA) were concentrated to crystal, and it was fould that separation between a group of 2,6-, 2,7-, 2,3-DMNA isomers and a group of the other DMNA isomers was possible. However, it was not possible to separate 2,6-, 2,7- and 2,3-DMNA from one another. To select the most suitable recrystallization solvent for purification of 2,6-DMNA, several conventional solvents, which have been employed commercially as recrystallization solvents for high purity performance, were tested, through measurement of solubility of 2,6- and 2,7-DMNA. The solvent used were hexane, iso-propyl ether, ethyl acetate and ethanol. From the solubility results for 2,6- and 2,7-DMNA, ethanolseemed to be the most suitable solvent for purification of 2,6-DMNA. Finally,withcrystal recovered by crystallization as f feed and ethanol as a solvent,recrystallization experiments were conducted under various conditions. Purificationof 2,6-DMNA was easily done with increasing operating temperature andsolvent to feed ratio. These results show that the crystallization-recrystallization combination is an effective one for separation of individual isomers of DMNA

KOICA 농업분야 CSV사업기획을 위한 가치사슬분석법(Value Chain Analysis) 적용방안

김수진,이효정,오수현 한국국제협력단 2016 연구보고서 Vol.- No.-