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차세대 염기서열분석을 이용한 유전성 대사질환의 유전진단
기창석,Chang-Seok Ki 대한유전성대사질환학회 2023 대한유전성대사질환학회지 Vol.23 No.2
Inherited metabolic disorders (IMD) are a group of disorders involving various metabolic pathways. Genetic diagnosis of IMD has been challenging because of extremely heterogeneous nature and extensive laboratory and/or phenotype overlap. Conventional genetic diagnosis was a gene-by-gene approach that needs a priori information on the causative genes that might underlie the IMD. Recent implementation of next-generation sequencing (NGS) technologies has changed the process of genetic diagnosis from a gene-by-gene approach to simultaneous analysis of targeted genes possibly associated with the IMD using gene panels or using whole exome/genome sequencing (WES/WGS) covering entire human genes. Clinical NGS tests can be a cost-effective approach for the rapid diagnosis of IMD with genetic heterogeneity and are becoming standard diagnostic procedures.
기창석,김형환,박영환,Ki, Chang Seok,Kim, Hyung Hwan,Park, Young Hwan 한국잠사학회 2016 한국잠사곤충학회지 Vol.54 No.1
Both mechanical property and biocompatibility of silk protein has been highlighted for decades and lots of studies are trying to use it for a wide variety of applications. Recently, silk-based hydrogel has received great attention in biomedical field such as drug delivery and tissue engineering since silk protein presents a unique hydrogel forming mechanism as well as cyto-compatibility. Silk hydrogels are formed via tremendous physical and chemical techniques and their biomedical applications are extensively explored. In this review, various types and fabrication methods of silk hydrogels are presented and also the recent research trend of silk hydrogel-based applications is summarized.
A case of two sisters births from mother with phenylketonuria lacking mental retardation
기창석,김진경 대한소아청소년과학회 2008 Clinical and Experimental Pediatrics (CEP) Vol.51 No.5
In this untreated classic phenylketonuria (PKU) case, mental retardation is severe; however, there have been individualslike the mother of this casewho have escaped mental retardation and all the other potential sequelae of phenylketonuria, despite having high blood phenylalanine levels, and very poor dietary control. It appears that they have nearly normal brain phenylalanine levels despite high blood phenylalanine (Phe) levels. A number of studies have now demonstrated considerable variability in blood vs. brain phenylalanine levels in phenylketonuria patients. Outcome of phenylketonuria appears to be related to brain phenylalanine levels. We report a case of "undiagnosed" maternal phenylketonuria syndrome. A female infant had low birth weight (2,400 g) with microcephaly. We examined her family and discovered that her mother was an undiagnosed phenylketonuria patient with a borderline intelligence quotient (IQ). The infant's sister, six years old, was diagnosed with phenylketonuria at the age of four years was mentally retarded and had received an operation for cleft lip and palate. the sister had also had a low birth weight (2,300 g). Her sister and mother were compound heterozygotes (mother: R243Q/Y325X; sister: Y325X/P407S). The infant and father were heterozygous carriers (baby: R243Q/-; father: P407S/-). (Korean J Pediatr 2008;51:546-550)
기창석 대한의학유전학회 2017 대한의학유전학회 학술대회 논문집 Vol.1 No.1
-보건복지부 공고/고시 요양급여의 적용기준 및 방법에 관한 세부사항 일부개정안 행정예고: 보건복지부 공고 제2017-19호(1/9) 고시: 보건복지부 고시 제2017-15호(1/31) -본인부담율을 달리 적용하는 항목 및 부담률의 결정 등에 관한 기준 일부 개정안 행정예고: 보건복지부 공고 제2017-46호(1/17) 고시: 보건복지부 고시 제2017-25호(2/8) -심평원 공고 차세대염기서열분석 기반 유전자 패널검사 실시기관 승인 신청에 관한 공고 심평원 공고 제2017-30호(2/10) 차세대염기서열분석 기반 유전자 패널검사 승인기관 관리에 관한 세부사항 심평원 공고 제2017-31호(2/10)
기창석 대한진단검사의학회 2019 Annals of Laboratory Medicine Vol.39 No.2
This erratum corrects an error in the nomenclature of a mutation reported in the article entitled “Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis” by In Young Yoo, Ju-Sun Song, Chang-Seok Ki, Jong-Won Kim, Hoon-Suk Cha, and Yong-Ki Min (Ann Lab Med 2017;37:540-3, DOI 10.3343/alm.2017.37.6.540). The nomenclature of this mutation should be corrected as follows: c.1560+5_1560+8del rather than c.1560+3_1560+6del. The same error in the title, abstract, and text was also made in Figure 2, and should be corrected as follows:
기창석,이혁민,성흥섭,김신영,성문우,용동은,김재석,이미경,김미나,최종락,김정호,The Korean Society for Laboratory Medicine MERS-CoV Laboratory Response Task Force 대한진단검사의학회 2016 Annals of Laboratory Medicine Vol.36 No.3
For two months between May and July 2015, a nationwide outbreak of Middle East respiratory syndrome coronavirus (MERS-CoV) occurred in Korea. On June 3, 2015, the Korean Society for Laboratory Medicine (KSLM) launched a MERS-CoV Laboratory Response Task Force (LR-TF) to facilitate clinical laboratories to set up the diagnosis of MERS-CoV infection. Based on the WHO interim recommendations, the Centers for Disease Control and Prevention of United States guidelines for MERS-CoV laboratory testing, and other available resources, the KSLM MERS-CoV LR-TF provided the first version of the laboratory practice guidelines for the molecular diagnosis of MERS-CoV to the clinical laboratories on June 12, 2015. The guidelines described here are an updated version that includes case definition, indications for testing, specimen type and protocols for specimen collection, specimen packing and transport, specimen handling and nucleic acid extraction, molecular detection of MERS-CoV, interpretation of results and reporting, and laboratory safety. The KSLM guidelines mainly focus on the molecular diagnosis of MERS-CoV, reflecting the unique situation in Korea and the state of knowledge at the time of publication.