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      • KCI등재

        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.

      • KCI등재후보

        경쟁요소 유무에 따른 운동참여자의 심리특성 비교

        김수진,정혁 한국웰니스학회 2011 한국웰니스학회지 Vol.6 No.3

        The purpose of this study was to investigate the differences in participation motivation, body??self-image, and exercise-emotion of participants in squash and fitness training. Three questionnaires were??applied adults participating one of physical activities. Data obtained from 327 respondents were analyzed using??independent t-test for comparing squash and fitness training groups. Squash group showed higher scores in Joy and Learning??factors of participation motivation and Amusement, Vigor, and Achievement factors of exercise-emotion. Fitness??training group showed higher scores on Health and Physical Ability factors of participation motivation. No difference??between groups was found on body self-image. In comparing fitness training participants based on the period of??participation (i.e., more or less than 13 months), participants with longer participation show higher score in Health &??Fitness Evaluation factor. To summarize, participants have their own unique interest and motivation depending on??the type of activity.

      • KCI등재

        「NP1のNP2」に対応する韓国語名詞句の考察

        김수진,데라이히로미 한국일어교육학회 2014 일본어교육연구 Vol.0 No.30

        西山(2003)では、日本語の名詞句「NP1のNP2」をA~Eの5つのタイプに分類して考察を行っている。本稿では、西山(2003)のグルーピングにしたがって韓国語の名詞句を分類し、①「의」が必須になる場合、②「의」が不必要な場合、③「의」が任意となる場合の3つの観点からその分布を考察した。その結果、NP1とNP2との間に「関係Rを有する」という意味関係が成り立つタイプ[A]と、NP1が特定の時間領域を表し、NP2の指示対象をその領域のなかで固定するタイプ[C]では、①②③の全てのタイプが存在することが分かった。「NP1デアルNP2」のように同格を表すタイプ[B]では、「딸 희원(娘であるヒウォン)」と「혼돈의 상태(混沌である状態)」を区分して考察を行い、これが「의」の介入に影響していることを確認した。非飽和名詞のNP2とそのパラメータの値をNP1が表すタイプ[D]では、①と③のタイプが存在し、②の「의」が不必要な場合は見当たらなかった。タイプ[E]では、行為名詞であるNP2が格項目としてNP1をとり、そのNP1に対象と主体が用いられることが西山(2003)で指摘されている。しかし、韓国語の名詞句との対照の結果、NP1が主体を表す場合は「의」が必須となり、NP1が対象を表す場合は「의」が任意となることが分かった。さらに、主体でも対象でもない成分がNP1に使用される場合があり、そのときは「의」が不必要になることが確認できた。

      • KCI등재

        의류제품 구매시 소비자의 전환장벽지각이 점포충성도에 미치는 영향

        김수진,정명선 한국의류학회 2001 한국의류학회지 Vol.25 No.8

        The purposes of this study were to examine the effect of switching barrier perception on store loyalty in apparel product purchasing, to classify the factors of switching barrier perception, and additionally to identify differences of store loyalty and switching barrier perception according to demographic characteristics. The questionnaire was administered to 300 women shopped in a department store in Gwang-ju city during February 10-23, 2001. Data collected from 261 women were analyzed by using frequency, factor analysis, ANOVA, Duncan-test, regression analysis by SPSS for windows PC program. The results were as follows; 1. The consumers' perceived switching barrier was composed of three factors; economic, psychological, time factor. 2. There was significant difference in store loyalty according to consumers' age, occupation, education level, and income. 3. There were significant differences in economic, time switching barrier perception according to consumers' age, occupation, education level, and income. There was significant difference in psychological switching barrier perception according to consumers' occupation, education level, and income. 4. The switching barrier perception significantly influenced on the store loyalty.

      • KCI등재

        SOLAR CYCLE VARIATION OF MICROWAVE POLAR BRIGHTENING AND EUV CORONAL HOLE OBSERVED BY NOBEYAMA RADIOHELIOGRAPH AND SDO/AIA

        김수진,박종엽,김연한 한국천문학회 2017 Journal of The Korean Astronomical Society Vol.50 No.4

        We investigate the solar cycle variation of microwave and extreme ultraviolet (EUV) intensity in latitude to compare microwave polar brightening (MPB) with the EUV polar coronal hole (CH). For this study, we used the full-sun images observed in 17 GHz of the Nobeyama Radioheliograph from 1992 July to 2016 November and in two EUV channels of the Atmospheric Imaging Assembly (AIA) 193 \AA\ and 171 \AA\ on the Solar Dynamics Observatory (SDO) from 2011 January to 2016 November. As a result, we found that the polar intensity in EUV is anti-correlated with the polar intensity in microwave. Since the depression of EUV intensity in the pole is mostly owing to the CH appearance and continuation there, the anti-correlation in the intensity implies the intimate association between the polar CH and the MPB. Considering the report of \citet{gopal99} that the enhanced microwave brightness in the CH is seen above the enhanced photospheric magnetic field, we suggest that the pole area during the solar minimum has a stronger magnetic field than the quiet sun level and such a strong field in the pole results in the formation of the polar CH. The emission mechanism of the MPB and the physical link with the polar CH are not still fully understood. It is necessary to investigate the MPB using high resolution microwave imaging data, which can be obtained by the high performance large-array radio observatories such as the ALMA project.

      • KCI등재

        Stem Cell Therapy for Neurogenic Bladder After Spinal Cord Injury: Clinically Possible?

        김수진,조영삼,박종목,나영길,김계환 대한배뇨장애요실금학회 2020 International Neurourology Journal Vol.24 No.S1

        Neurogenic bladder (NB) after spinal cord injury (SCI) is a common complication that inhibits normal daily activities and reduces the quality of life. Regrettably, the current therapeutic methods for NB are inadequate. Therefore, numerous studies have been conducted to develop new treatments for NB associated with SCI. Moreover, a myriad of preclinical and clinical trials on the effects and safety of stem cell therapy in patients with SCI have been performed, and several studies have demonstrated improvements in urodynamic parameters, as well as in sensory and motor function, after stem cell therapy. These results are promising; however, further high-quality clinical studies are necessary to compensate for a lack of randomized trials, the modest number of participants, variation in the types of stem cells used, and inconsistency in routes of administration.

      • KCI등재

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