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Lee, Min Ju,Suh, Chae Ri,Shin, Jeong Hee,Lee, Jee Hyun,Lee, Yoon,Eun, Baik-Lin,Yoo, Kee Hwan,Shim, Jung Ok The Korean Society of Pediatric Gastroenterology 2019 Pediatric gastroenterology, hepatology & nutrition Vol.22 No.6
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystemic disease that is associated with the liver, kidney, skin, and central nervous and musculoskeletal systems. ARC occurs as a result of mutations in the VPS33B (Vacuolar protein sorting 33 homolog B) or VIPAR (VPS33B interacting protein, apical-basolateral polarity regulator) genes. A female infant presented with neonatal cholestasis with a severe clinical outcome. She was diagnosed with ARC syndrome using targeted exome sequencing (TES). Exome sequencing revealed compound heterozygous mutations, c.707A>T and c.239+5G>A, in VPS33B, where c.707A>T was a novel variant; the resultant functional protein defects were predicted via in silico analysis. c.239+5G>A, a pathogenic mutation that affects splicing, is found in less than 0.1% of the general population. Invasive techniques, such as liver biopsies, did not contribute to a differential diagnosis of ARC syndrome; thus, early TES together with clinical presentations constituted an apparently accurate diagnostic procedure.
국립공원 관리를 위한 해양생태계 장기 모니터링 프로그램의 발전 방향
이채린(Chae-Lin Lee),유재원(Jae-Won Yoo),정병관(Byungkwan Jeoung),김창수(Chang-Soo Kim),안동식(Dong-Sik Ahn),김성태(Sungtae Kim),성은주(Eun-Ju Sung),김성현(Sung-Hyun Kim),정수영(Su-Yeoung Jeong),박영석(Young-Seuk Park) 국립공원연구원 2021 국립공원연구지 Vol.12 No.2
생태계 변화의 모니터링은 효율적 생태계 관리를 위한 기초 정보 수집을 위해 중요한 과정이다. 많은 생태 현상과 그 과정은 오랜 시간에 걸쳐 진행되므로 국립공원의 지속적인 보전 및 효율적 관리를 위해 생태계 모니터링은 장기적으로 이루어질 필요가 있다. 본 연구는 국내외 장기 모니터링 프로그램 사례 분석을 통해 성공적인 장기 모니터링을 위한 방법으로써, 최적화된 모니터링 설계, 표준화된 운용방안 마련, 인적 자원 및 DATA 관리 체계 수립, 안정적인 재정 마련 및 후속지원 등을 제시하였다. 이를 바탕으로, 현재 10년 넘게 수행되고 있는 ‘HS호 유류유출 사고 해역 장기 모니터링 프로그램’의 발전 방향으로 적응형 모니터링 방식이 적용된 표준화된 프로토콜의 정립, QA/QC와 지속적인 자료 관리, 조사 항목의 연계성 강화 등의 구체적 방안을 제안한다. Monitoring ecosystem changes is an important process for collecting basic information for ecosystem management. Since many ecological phenomena and their processes take place over a long period of time, it is necessary to conduct long-term monitoring of ecosystems for the continuous conservation and efficient management of national parks. This study suggested an optimized monitoring design, standardized operation plan, human resource and data management system, stable financial preparation and follow-up support as methods for successful long-term monitoring through case analysis of domestic and foreign long-term monitoring programs. Based on this, it proposes specific measures such as establishing a standardized protocol with adaptive monitoring methods, continuous data management with QA/QC, and strengthening the linkage of investigation items in the development direction of the “HS oil spill accident long-term monitoring program” that has been conducted for more than a decade.
Min Ju Lee,Chae Ri Suh,Jeong Hee Shin,Jee Hyun Lee,Yoon Lee,Baik-Lin Eun,Kee Hwan Yoo,Jung Ok Shim 대한소아소화기영양학회 2019 Pediatric gastroenterology, hepatology & nutrition Vol.22 No.6
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystemic disease that is associated with the liver, kidney, skin, and central nervous and musculoskeletal systems. ARC occurs as a result of mutations in the VPS33B (Vacuolar protein sorting 33 homolog B) or VIPAR (VPS33B interacting protein, apical-basolateral polarity regulator) genes. A female infant presented with neonatal cholestasis with a severe clinical outcome. She was diagnosed with ARC syndrome using targeted exome sequencing (TES). Exome sequencing revealed compound heterozygous mutations, c.707A>T and c.239+5G>A, in VPS33B, where c.707A>T was a novel variant; the resultant functional protein defects were predicted via in silico analysis. c.239+5G>A, a pathogenic mutation that affects splicing, is found in less than 0.1% of the general population. Invasive techniques, such as liver biopsies, did not contribute to a differential diagnosis of ARC syndrome; thus, early TES together with clinical presentations constituted an apparently accurate diagnostic procedure.
Yang, Seung Won,Jang, Yo Han,Kwon, Soon Bin,Lee, Yoon Jae,Chae, Wonil,Byun, Young Ho,Kim, Paul,Park, Chan,Lee, Young Jae,Kim, Choon Kang,Kim, Young Seok,Choi, Seong Il,Seong, Baik Lin Federation of American Societies for Experimental 2018 The FASEB Journal Vol.32 No.5
<P>A novel protein-folding function of RNA has been recognized, which can outperform previously known molecular chaperone proteins. The RNA as a molecular chaperone (chaperna) activity is intrinsic to some ribozymes and is operational during viral infections. Our purpose was to test whether influenza hemagglutinin (HA) can be assembled in a soluble, trimeric, and immunologically activating conformation by means of an RNA molecular chaperone (chaperna) activity. An RNA-interacting domain (RID) from the host being immunized was selected as a docking tag for RNA binding, which served as a transducer for the chaperna function for <I>de novo</I> folding and trimeric assembly of RID-HA1. Mutations that affect tRNA binding greatly increased the soluble aggregation defective in trimer assembly, suggesting that RNA interaction critically controls the kinetic network in the folding/assembly pathway. Immunization of mice resulted in strong hemagglutination inhibition and high titers of a neutralizing antibody, providing sterile protection against a lethal challenge and confirming the immunologically relevant HA conformation. The results may be translated into a rapid response to a new influenza pandemic. The harnessing of the novel chaperna described herein with immunologically tailored antigen-folding functions should serve as a robust prophylactic and diagnostic tool for viral infections.—Yang, S. W., Jang, Y. H., Kwon, S. B., Lee, Y. J., Chae, W., Byun, Y. H., Kim, P., Park, C., Lee, Y. J., Kim, C. K., Kim, Y. S., Choi, S. I., Seong, B. L. Harnessing an RNA-mediated chaperone for the assembly of influenza hemagglutinin in an immunologically relevant conformation.</P>
연구논문 : 신창맹씨 종가의 문헌(「자손보전」)에 수록된「최씨 음식법」의 조리법을 통한 조선 중기 음식문화 고찰 -찜류 및 면병과류를 중심으로-
박채린 ( Chae Lin Park ),이진영 ( Jin Young Lee ) 한국식생활문화학회 2015 韓國食生活文化學會誌 Vol.30 No.5
This study compared recipes of Korean Traditional steamed dishes, Noodles, Rice cake & Confectionary in Choi’s Recipe (「Choi’s Eumsikbeop」) with those in other literatures written during the mid-Joseon Dynasty. Through this work, it aimed to explore the value of Choi’s Recipe (「Choi’s Eumsikbeop」) in the history of cooking and the meanings of its recipes. Choi’s Recipe (「Choi’s Eumsikbeop」) contains recipes for a total of 20 kinds of food. Specifically, there are seven kinds of Fermented dishes (kimchi (6), and salted fermented food (1)), four kinds of Steamed dishes, seven kinds of Confectionary and Sweet (rice cake (4), jeonggwa (1), and dang (2)), and two kinds of Noodles (dumpling (1), and noodle (1)). Among them, the steamed dishes revealed characteristics of 17th-century food as in other cooking books, and some of them utilized unique ingredients handed down only through head families. Moreover, some recipes showed different cooking methods using similar materials. This suggests the originality of the recipes in this cooking book.