• Title/Summary/Keyword: Mira

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Polymorphisms in Glutamate Receptor, Ionotropic, N-methyl-D-aspartate 2B(GRIN2B) Genes of Autism Spectrum Disorders in Korean Population : Family-based Association Study (한국인 자폐스펙트럼장애에서 Glutamate Receptor, Ionotropic, N-methyl-D-Aspartate 2B(GRIN2B) 유전자 다형성-가족기반연구)

  • Yoo, Hee Jeong;Cho, In Hee;Park, Mira;Yoo, Hanik K.;Kim, Jin Hee;Kim, Soon Ae
    • Korean Journal of Biological Psychiatry
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    • v.13 no.4
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    • pp.289-298
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    • 2006
  • Objectives : Autism is a complex neurodevelopmental spectrum disorder with a strong genetic component. Previous neurochemical and genetic studies suggested the possible involvement of glutamate N-methyl-D-aspartate(NMDA) receptor in autism. The aim of study was to investigate the association between the NMDA2B receptor gene(GRIN2B) and autism spectrum disorders(ASD) in the Korean population. Methods : The patients with ASD were diagnosed with Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule based on DSM-IV diagnostic classification. The present study was conducted with the detection of four single nucleotide polymorphisms(SNPs) in GRIK2 and family-based association analysis of the single nucleotide polymorphisms in Korean ASD trios using transmission disequilibrium test (TDT). Results : One hundred twenty six patients with ASD and their biological parents were analyzed. 86.5% were male and 85.1% were diagnosed as autistic disorder. The mean age was $71.9{\pm}31.6$ months(range : 26-185 months). We found that rs1805247 showed significantly preferential transmission(TDT ${\chi}^2$=12.8, p<0.001) in ASD. Conclusion : One SNP in GRIN2B gene was significantly associated with ASD in the Korean population. This result suggests the possible involvement of glutamate NMDA receptor gene in the development of ASD.

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Discovery of UBE2I as a Novel Binding Protein of a Premature Ovarian Failure-Related Protein, FOXL2 (조기 난소 부전증 유발 관련 단백질인 FOXL2의 새로운 결합 단백질 UBE2I의 발견)

  • Park, Mira;Jung, Hyun Sook;Kim, Hyun-Lee;Pisarska, Margareta D.;Ha, Hye-Jeong;Lee, Kangseok;Bae, Jeehyeon;Ko, Jeong-Jae
    • Development and Reproduction
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    • v.12 no.3
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    • pp.289-296
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    • 2008
  • BPES (Blepharophimosis/Ptosis/Epicanthus inversus Syndrome) is an autosomal dominant disorder caused by mutations in FOXL2. Affected individuals have premature ovarian failure (POF) in addition to small palpebral fissures, drooping eyelids, and broad nasal bridge. FOXL2 is a member of the forkhead family transcription factors. In FOXL2-deficient ovaries, granulosa cell differentiation dose not progress, leading to arrest of folliculogenesis and oocytes atresia. Using yeast two-hybrid screening of rat ovarian cDNA library with FOXL2 as bait, we found that small ubiquitin-related modifier (SUMO)-conjugating E2 enzyme UBE2I protein interacted with FOXL2 protein. UBE2I also known as UBC9 is an essential protein for processing SUMO modification. Sumoylation is a form of post-translational modification involved in diverse signaling pathways including the regulation of transcriptional activities of many transcriptional factors. In the present study, we confirmed the protein-protein interaction between FOXL2 and UBE2I in human cells, 293T, by in vivo immunoprecipitation. In addition, we generated truncated FOXL2 mutants and identified the region of FOXL2 required for its association with UBE2I using yeast-two hybrid system. Therefore, the identification of UBE2I as an interacting protein of FOXL2 further suggests a presence of novel regulatory mechanism of FOXL2 by sumoylation.

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An analysis of daily lives of children in Korea, Japan and China (한국, 중국, 일본 유아들의 일상생활에 대한 비교연구)

  • Kisook Lee;Mira Chung;Hyunjung Kim
    • Korean Journal of Culture and Social Issue
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    • v.12 no.5_spc
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    • pp.81-98
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    • 2006
  • The objective of this research is to do a cultural comparison on the daily lives of the children of Korea, Japan and China. To achieve this objective, the questionnares were distributed to the 2940 mothers of children from the ages of 3 to 6 in the countries of Korea, Japan and China. The target audience consisted of 941 mothers living in Seoul and Kyunggi area for Korea, 1007 mothers living in Tokyo for Japan, and 992 mothers living in Beijing for China. As a result of the research, we found out that firstly, although children in general got up anytime between 7:00am to 9:00am and went to bed between 8:00pm and 11:00pm, 61.5% of the Korean children went to bed after 10pm and 16.8% after 11pm. Besides that, we found that compared to 3.51% of Korean children who got up before 6am, 13.41% of Japanese children and 17.24% of Chinese children got up before 6:00am. So we could see that the Korean children got up later and went to bed later than their Japanese and Chinese counterpart. This pattern could also be seen in the average rising time and bed time. Korean children went to bed at 10:00pm and woke up at 7:75am whereas the Japanese children went to bed at 9:28pm and woke up at 7:39am, and the Chinese children went to bed at 9:05pm and woke up at 7:05am. The average sleeping hours for Japanese children was 10.12 hours, 9.50 hours for the Chinese and 9.75 hours for the Korean. As a result, we could see that the Korean children went to bed later, got up later and slept fewer hours than their Japanese and Chinese counterparts. Also, since the rising time and bedtime of the Korean children was later than those of the Chinese and Japanese counterparts, the former s' breakfast and dinner time was also much later. Secondly, we looked at the time children went off to and came back from institutes such as kindergarten and child care centers. The Chinese were earliest at going with average attendance at 7:83am, the Japanese came next at 8:59am and the Korean children were last at 8:90am, whereas the Japanese came first in coming back home at 3:36pm, Korean next at 3:91pm and the Chinese last at 5:46pm. Next when we looked at the hours spent at the kindergartens and child care centers, Japan spent 6.76 hours, Korea 7.01 hours and China spent the longest hours with 9.63 hours. Excluding China where all preschool institutes are centralized into kindergartens, we nest looked at time children went to and came back from the institutes as well as the time spent there. In the case of kindergarten, there was not much difference but in the case of child care centers, the Japanese children went to the child care centers mach earlier and came home later than the Korean children. Also, the time spent at the child care center was much longer for the Japanese than the Korean children. This fact coincides with the Korean mothers' number one wish to the kindergartens and child care centers i.e. for the institutes to prolong their school hours. Thus, the time spent at child care centers for Korea was 7.75 hours, 9.39 hours for Japan and 9.63 hours for China. The time for Korea was comparatively much shorter than that of Japan and China but if we consider the fact that 50% of the target audience was working mothers, we could easily presume that the working parents who usually use the child care centers would want the child care centers to prolong the hours looked after their children. Besides this, the next most wanted wish mothers have towards the child care centers and kindergartens was for those institutes to "look after their children when sick". This item showed high marks in all three countries, and the marks in Korea was especially higher when compared to Japan and China. Thirdly, we looked at the private extracurricular activities of the children. We found that 72.6% of the Korean children, 61.7% of the Japanese children, and 64.6% of the Chinese children were doing private extracurricular activities after attending kindergarten or day care centers. Amongst the private extracurricular activities done by Korean children, the most popular one was worksheet with 51.9% of the children doing it. Drawing (15.20%) and English (11.6%) came next. Swimming (21.95%) was the most popular activity for Japan, with English (17.48%), music (15,79%) and sports (14.70%) coming next. For China, art (30.95%) was first with English (22.08%) and music (19.96%) following next. All three countries had English as the most popular activity related to art and physical activities after school hours, but the rate for worksheet studies was much higher for Korea compared to Japan China. The reason Koreans universally use worksheet in because the parents who buy the worksheet are mothers who have easy access to advertisement or salespeople selling those products. The price is also relatively cheap, the worksheet helps the children to grow the basic learning ability in preparation for elementary school, and it is thought to help the children to build the habit of studying everyday. Not only that but it is estimated that the worksheet education is being conducted because parents can share the responsibility of the children's learning with the worksheet-teacher who make home visits. Looking at the expenses spent on private extracurricular activities as compared to income, we found that China spent 5% of income for activities outside of regular education, Korea 3% and Japan 2%. Fourthly, we looked at the amount of time children spent on using multimedia. The majority of the children in Korea, Japan and China watch television almost every day. In terms of video games, the Japanese children played the games the most, with Korea and China following next. The Korean children used the computer the most, with Japan and China next. The Korean children used about 21.17% of their daily time on computers which is much more than the Japanese who used 20.62% of their time 3 or 4 times a week, or the Chinese. The Chinese children were found to use considerably less time on multimedia compared to the Korean of Japanese.