• 제목/요약/키워드: dominant family

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De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea

  • Han, Kyoung Hee;Park, Jong Eun;Ki, Chang-Seok
    • Clinical and Experimental Pediatrics
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    • 제62권5호
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    • pp.193-197
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    • 2019
  • Alport syndrome (ATS) is an inherited glomerular disease caused by mutations in one of the type IV collagen novel chains (${\alpha}3$, ${\alpha}4$, and ${\alpha}5$). ATS is characterized by persistent microscopic hematuria that starts during infancy, eventually leading to either progressive nephritis or end-stage renal disease. There are 3 known genetic forms of ATS, namely X-linked ATS, autosomal recessive ATS, and autosomal dominant ATS. About 80% of patients with ATS have X-linked ATS, which is caused by mutations in the type IV collagen ${\alpha}5$ chain gene, COL4A5. Although an 80% mutation detection rate is observed in men with X-linked ATS, some difficulties do exist in the genetic diagnosis of ATS. Most mutations are point mutations without hotspots in the COL4A3, COL4A4, and COL4A5 genes. Further, there are insufficient data on the detection of COL4A3 and COL4A4 mutations for their comparison between patients with autosomal recessive or dominant ATS. Therefore, diagnosis of ATS in female patients with no apparent family history can be challenging. Therefore, in this study, we used whole-exome sequencing (WES) to identify mutations in type IV collagen in 2 girls with glomerular basement membrane structural changes suspected to be associated with ATS; these patients had no relevant family history. Our results revealed de novo c.4688G>A (p.Arg1563Gln) and c.2714G>A (p.Gly905Asp) mutations in COL4A5. Therefore, we suggest that WES is an effective approach to obtain genetic information in ATS, particularly in female patients without a relevant family history, to detect unexpected DNA variations.

경북지역 고추, 콩, 옥수수, 배추밭의 잡초종 발생 분포와 우점 양상 (Dominance and Distribution of Weed Occurrence on Hot Pepper, Soybean, Maize, and Chinese Cabbage Fields of Gyeongbuk Province)

  • 김상국;김학윤
    • Weed & Turfgrass Science
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    • 제4권2호
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    • pp.95-103
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    • 2015
  • 본 연구는 2014년 4월부터 9월까지 경북지역 17개 시 군의 고추, 콩, 옥수수 및 배추 재배포장에 발생되는 잡초의 분포와 우점도를 알아보기 위하여 수행되었다. 조사결과, 고추밭 32과(family) 132종(국화과 23종, 벼과 10종, 메꽃과 8종), 콩밭 31과 116종(국화과 21종, 벼과 10종, 메꽃과 9종), 옥수수밭 37과 134종(국화과 16종, 벼과 12종, 메꽃과 11종), 배추밭 35과 170종(국화과 28종, 메꽃과 14종, 벼과 13종)이 출현하였다. 작물별 우점도는 고추밭 쇠비름 10.07, 콩밭 바랭이 9.63, 옥수수밭 바랭이 8.28, 배추밭 속 속이풀 8.35로 나타났다. PCA-covariance 분석을 통한 주요 잡초군락은 냉이로 대표되는 배추밭과 돌피로 대표되는 옥수수밭 그리고 공통적으로 왕바랭이, 쇠비름 및 깨풀로 대표되는 고추밭과 콩밭으로 구별되었다.

닭과 소의 사체에 유인되는 진드기류 (Acari Attracted to Carrion of Chicken and Cattle)

  • 임채석;이원구
    • 한국토양동물학회지
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    • 제10권1_2호
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    • pp.16-21
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    • 2005
  • 2002년 9월부터 2003년 12월까지 경남 진주시 경상대학교 인근의 야산, 초지, 하천변, 온실, 건물옥상, 논 및 채소밭에서 닭과 소의 사체를 매장하거나 노출 설치하여 유인되는 진드기류를 채집하였으며 동정 한 결과 다음과 같이 7종을 확인하였다. Suborder Ixodida 참진드기 아목 Family Ixodidae 참진드기 과 1. Haemaphysalis longicornis Neumann, 1901 작은소참진드기 Suborder Mesostigmata 중기문 아목 Family Machrochelidae 큰집게좀진드기 과 2. Macrocheies muscaedolnesticae(Scopoli, 1772) 파리큰집게좀진드기 3. Holostaspella ornata(Berlese, 1904) 무늬파리응애(국명 신칭) Family Ascidae 떠돌이응애 과 4. Protogamasellus micus(Athias-Henriot, 1961) 미카응애(국명 신칭) 5. Lasioseius sugawarai Ehara,1964 화살응애 6. Proctolaelaps sp. Suboder Prostigamta 전기문 아목 Family Erythraeidae 7. Abrolophus sp. 그 중 가장 흔한 것은 파리큰집게좀진드기(31.8%)와 미카응애 (28.2%)이었고, Holostaspella ornata (Berlese 1904)와 Protogamasellus micus(Athias-Henriot 1961)는 한국 미기록종이다.

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중년의 일, 가족, 여가시간 배분유형과 유형결정요인: 취업한 기혼 남녀를 중심으로 (A Typology of Mid-life Adults' Everyday life : An Analysis of Time Diary)

  • 차승은
    • 대한가정학회지
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    • 제46권1호
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    • pp.103-116
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    • 2008
  • The purpose of this study was to empirically describe the everyday life of middle-aged adults in terms of their time-use activities. From the original '2004 Time dairy' Data, developed by the Korean National Statistical Office (KNOS), 17,684 respondents aged between 35-59 were selected. In order to categorize their activity patterns, work/labour, domestic labour, and spare leisure time were classified according to the action classification system. As a result, four dominant types were found: namely work-leisure, work-oriented, family-oriented, and leisure-oriented activities. Results of multinomial logistic analysis revealed that gender, age, socioeconomic status, job characteristic, and family structure were the major determinants on time-use. Compared with work-leisure, young middle aged women holding a part-time job with less income tended to be involved in a family-centered time use. Dual earners with lower SES status were likely to have work-oriented time schedules. Older men with relatively lower income were more likely to be involved in leisure-oriented activities rather than work-leisure activities. Multitasking behavior was a significant variable in explaining the four different types of time-use. Work-oriented group showed the highest level of time pressure as well as fatigue. Group differences in these measures, however, was not as large as expected.

중국출신 결혼이주여성의 의사결정 공정성인식과 성역할태도가 부부관계만족도에 미치는 영향 (The effect of equity in decision-making and gender role attitudes on marital satisfaction of Chinese migrant women)

  • 딩징야;진미정
    • 한국가족관계학회지
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    • 제23권1호
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    • pp.121-137
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    • 2018
  • Objectives: This study examined the effects of perceived equity in decision-making and gender role attitudes on marital satisfaction among Chinese-Han and Korean-Chinese migrant women. Methods: Data were drawn from the 'National Survey on the Multi-Cultural Families in 2015' and 1,350 Chinese migrant women born after 1979 under the implementation of "one child policy" were selected. Chi-squared test, t-test, and multiple regression analysis were performed for analysis. Results: There were differences between Chinese-Han and Korean-Chinese in marital satisfaction and perceived equity in decision-making. For Chinese-Han, 'balanced group (perceived fairness in decision-making)' showed higher marital satisfaction than 'underbenefited group (husband is more dominant in decision-making)'. For Korean-Chinese, there was no significant difference between the groups. Conclusions: This study found how the perception of equity in decision-making would affect the quality of international marriage relationship. Especially, for Chinese-Han women, the equity plays an important role in marriage relationship.

Characterization of the microbial communities along the gastrointestinal tract of sheep by 454 pyrosequencing analysis

  • Wang, Jin;Fan, Huan;Han, Ye;Zhao, Jinzhao;Zhou, Zhijiang
    • Asian-Australasian Journal of Animal Sciences
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    • 제30권1호
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    • pp.100-110
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    • 2017
  • Objective: The gastrointestinal tract of sheep contain complex microbial communities that influence numerous aspects of the sheep's health and development. The objective of this study was to analyze the composition and diversity of the microbiota in the gastrointestinal tract sections (rumen, reticulum, omasum, abomasum, duodenum, jejunum, ileum, cecum, colon, and rectum) of sheep. Methods: This analysis was performed by 454 pyrosequencing using the V3-V6 region of the 16S rRNA genes. Samples were collected from five healthy, small tailed Han sheep aged 10 months, obtained at market. The bacterial composition of sheep gastrointestinal microbiota was investigated at the phylum, class, order, family, genus, and species levels. Results: The dominant bacterial phyla in the entire gastrointestinal sections were Firmicutes, Bacteroidetes, and Proteobacteria. In the stomach, the three most dominant genera in the sheep were Prevotella, unclassified Lachnospiraceae, and Butyrivibrio. In the small intestine, the three most dominant genera in the sheep were Escherichia, unclassified Lachnospiraceae, and Ruminococcus. In the large intestine, the three most dominant genera in the sheep were Ruminococcus, unclassified Ruminococcaceae, and Prevotella. R. flavefaciens, B. fibrisolvens, and S. ruminantium were three most dominant species in the sheep gastrointestinal tract. Principal Coordinates Analysis showed that the microbial communities from each gastrointestinal section could be separated into three groups according to similarity of community composition: stomach (rumen, reticulum, omasum, and abomasum), small intestine (duodenum, jejunum, and ileum), and large intestine (cecum, colon, and rectum). Conclusion: This is the first study to characterize the entire gastrointestinal microbiota in sheep by use of 16S rRNA gene amplicon pyrosequencing, expanding our knowledge of the gastrointestinal bacterial community of sheep.

상대적 박탈 인지가구의 소비유형과 영향요인 (Factors Influencing Consumption Patterns of Household Recognizing Relatively Deprivation)

  • 심정인;김순미
    • Human Ecology Research
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    • 제53권5호
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    • pp.489-502
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    • 2015
  • This study identifies the relation between recognition relatively deprivation and consumption patterns. The data used were the seventh Korea Welfare Panel Study (KOWEPS). The final sample of 1,597 households was selected based on several sampling steps standard weights suggested by KOWEPS were applied. The final sample was subdivided into household recognizing relatively deprivation (51.7%) and non-household recognizing relatively deprivation (48.3%) per level of subjective income and objective income. We derived six consumption patterns from the cluster analysis as per consumption ratio: transportation dominant consumption pattern, essential consumption pattern, other dominant consumption pattern, care attention consumption pattern, private transfer consumption pattern, and education dominant consumption pattern. The results of this study are as follows. The analysis of the determinants of recognizing relatively deprivation in regards to question one found that the household was likely to be relatively deprived when: the head of a household was older, a household had a dual income, children and more total assets then those assessed 1 year ago compared to household living conditions, result of comparing the consumption patterns difference between household recognizing relatively deprivation and non-household recognizing relatively deprivation indicated that household recognizing relatively deprivation was more likely to belong to the transportation dominant consumption pattern, other dominant consumption pattern, and private transfer consumption pattern. The multinomial logistic analysis conducted to understand the determinants affecting the consumption patterns of household recognizing relatively deprivation indicated differences in demographic characteristics, household-related variables, financial variables and perception of economic conditions.

금지된 꿈: 「브로크백 마운틴」의 동성애 (Paranoia and Tragedy in Annie Proulx's "Brokeback Mountain")

  • 남승숙
    • 영미문화
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    • 제9권1호
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    • pp.141-162
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    • 2009
  • "Brokeback Mountain" deals with the love story between two homosexuals named Ennis and Jack. They never do use the word 'homosexual' but instead 'love.' They hide their love into the closet. And they conform to socially constructed gender roles. It is because they recognize that social order has punished the homosexuals severely through history. Especially, Ennis fears the homophobic heterosexual gaze. Through his paranoia, this article examines the conventional contradictory social order causing by the tragic story that is the homosexual "closet phenomenon." Such a phenomenon has resulted from the traditional patriarchal family system that is the central unit of society. Conventionally, patriarchy consists of a dominant male and non-dominant female system, based on force. Sexuality has been constructed, experienced, and understood in culturally and historically specific ways. Homosexuality has been imaged conventionally as a female disguised as a man. As such, homosexuality would violate and break such a constructed system that keeps the sexual hierarchy through male dominant construction. As homosexual, ironically with macho gender personas, Ennis and Jack are social outsiders. Through this story, Proulx suggests the conventional fixed social order is contradictory and, therefore forces the readers to re-consider the world and ponder about the future.

패밀리레스토랑 서비스의 기대불일치가 고객만족도에 미치는 영향에 관한 연구 (The Study for the Effect of Family Restaurant Service's Gap on Customer Satisfaction)

  • 김광수;김용완
    • 한국관광식음료학회지:관광식음료경영연구
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    • 제17권2호
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    • pp.1-26
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    • 2006
  • The life of modern society is going to be more scientific and rationalized. According to these trends, our dietary life was also dramatically changed. Family restaurants grew up by 30% every year was became the place of meeting and relaxation from the place of selling and eating. These demands request to improve an atmosphere, a facility and a service in family restaurants. The objective of the present study is to investigate the effect of the gap of service in family restaurant on customer loyalty based on Oliver's gap theory. These results could be contributed to make the strategy of marketing in family restaurants. The purpose of this study in detail is as below. First, it is determined the difference of its expectation and its outcome regarding on the family restaurant service. Second, it is investigated the relationship of the gap of family restaurant with customer satisfaction. The suggestions of the present study are as below. First, it is necessary to get a novel CI strategy to clean the environment of restaurant and to induce the customer desires for young females as a dominant customers. Second, it is need to improve the interior of restaurant and to develop foods for optimal dietary environments. Third, based on the customer loyalty of the present study, customer satisfaction belongs to optimal dietary environment and utilization, whereas the negative gap of service is commercial dietary goods and employee's service. Therefore, the continuous loyalty along with personal satisfaction intends to improve the maximized atmosphere and utilization on use. The main strategy of marketing could be focused on the improvement of commercial dietary goods and utilization for the satisfaction and demands of customers.

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Unraveling the hypoxia modulating potential of VEGF family genes in pan-cancer

  • So-Hyun Bae;Taewon Hwang;Mi-Ryung Han
    • Genomics & Informatics
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    • 제21권4호
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    • pp.44.1-44.10
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    • 2023
  • Tumor hypoxia, oxygen deprivation state, occurs in most cancers and promotes angiogenesis, enhancing the potential for metastasis. The vascular endothelial growth factor (VEGF) family genes play crucial roles in tumorigenesis by promoting angiogenesis. To investigate the malignant processes triggered by hypoxia-induced angiogenesis across pan-cancers, we comprehensively analyzed the relationships between the expression of VEGF family genes and hypoxic microenvironment based on integrated bioinformatics methods. Our results suggest that the expression of VEGF family genes differs significantly among various cancers, highlighting their heterogeneity effect on human cancers. Across the 33 cancers, VEGFB and VEGFD showed the highest and lowest expression levels, respectively. The survival analysis showed that VEGFA and placental growth factor (PGF) were correlated with poor prognosis in many cancers, including kidney renal cell and liver hepatocellular carcinoma. VEGFC expression was positively correlated with glioma and stomach cancer. VEGFA and PGF showed distinct positive correlations with hypoxia scores in most cancers, indicating a potential correlation with tumor aggressiveness. The expression of miRNAs targeting VEGF family genes, including hsa-miR-130b-5p and hsa-miR-940, was positively correlated with hypoxia. In immune subtypes analysis, VEGFC was highly expressed in C3 (inflammatory) and C6 (transforming growth factor β dominant) across various cancers, indicating its potential role as a tumor promotor. VEGFC expression exhibited positive correlations with immune infiltration scores, suggesting low tumor purity. High expression of VEGFA and VEGFC showed favorable responses to various drugs, including BLU-667, which abrogates RET signaling, an oncogenic driver in liver and thyroid cancers. Our findings suggest potential roles of VEGF family genes in malignant processes related with hypoxia-induced angiogenesis.