http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
기창석,이수연,김종원,Ki, Chang-Seok,Lee, Su-Yon,Kim, Jong-Won 대한유전성대사질환학회 2005 대한유전성대사질환학회지 Vol.5 No.1
Inherited metabolic diseases (IMD) comprise a large class of genetic diseases involving disorders of metabolism. The majorities are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. Because of the multiplicity of conditions, many different diagnostic tests are used for screening of IMD. Molecular genetic diagnosis is the detection of pathogenic mutations in DNA and/or RNA samples and is becoming a much more common practice in medicine today. The purpose of molecular genetic testing in IMD includes diagnostic testing, pre-symptomatic testing, carrier screening, prenatal diagnosis, preimplantation testing, and population screening. However, because of the complexity, difficulty in interpreting the result, and the ethical considerations, an understanding of technical, conceptual, and practical aspects of molecular genetic diagnosis is mandatory.
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.
피부 보습효과의 극대화를 위한 W/O 에멀젼 제조와 특성 평가
기창석 ( Chang Seok Ki ),신화영 ( Hwa Young Shin ),김정성 ( Jung Sung Kim ),정춘복 ( Choon Bok Jeong ),채병근 ( Byung Guen Chae ),한상훈 ( Sang Hoon Han ),남개원 ( Gae Won Nam ) 한국공업화학회 2010 응용화학 Vol.14 No.2
In this study, a wide variety of water/oil (W/O) type emulsions was prepared by varying ingredients and their contents in order to elucidate the relationship between each ingredient, such as wax, oil, surfactant, polyol and silicone, and moisturizing effect. Based on the result, the optimized formulation was confirmed. Subsequently, the moisturizing effect of W/O type emulsion prepared by the formulation was evaluated through the clinical study. As a result, the novel W/O type emulsion exhibited the significant increase of the water content on skin surface and the moisturizing effect was maintained over 12 hours.
MECP2 유전자 돌연변이가 확인된 Rett 증후군 1례
김진경,기창석,김종원,Kim, Jin Kyung,Ki, Chang Seok,Kim, Jong Won 대한소아청소년과학회 2002 Clinical and Experimental Pediatrics (CEP) Vol.45 No.4
Rett syndrome is an X-linked dominant, progressive neurodevelopmental disorder, with a prevalence estimated to be one in 10,000-15,000 girls, which is thought to be the second most common genetic causes of mental retardation in females after Down syndrome. Patients with classic Rett syndrome show an apparently normal neonatal period, followed by developmental regression and deceleration of head growth, accompanied by gradual loss of speech and purposeful hand use, and development of microcephaly, seizures, autism, ataxia, intermittent hyperventilation and stereotypic hand movements. After regression between infancy and the fifth year of life, the clinical course stabilizes and patients usually survive into adulthood. It was recently discovered that Rett syndrome is caused by mutations in the methyl-CpG binding protein 2(MECP2) gene. Diagnosis of Rett syndrome is clinically difficult before three years of age, especially in atypical cases, but molecular analysis of the MECP2 gene could assist correct diagnosis in some patients. Recently, we diagnosed a case of Rett syndrome in a two year-old girl by mutational analysis of the MECP2 gene and want to report this case with brief review of literature. 저자들은 임상적으로 Rett 증후군이 의심된 2세 환아에서 MECP2 유전자의 직접 염기 서열 분석을 통해 P152R 돌연변이를 확인하였다. 이에 대한 문헌 고찰과 함께 보고하는 바이다.
박진석(Jin Seok Park),이정민(Jeong Min Lee),기창석(Chang Seok Ki),김영은(Young Eun Kim),이선경(Seon kyeong Rhie),채규영(Kyu Young Chae) 대한소아신경학회 2014 대한소아신경학회지 Vol.22 No.3
Menkes disease is caused by mutations in the ATP7A gene that lead to intracellular copper transport defects and characterized by brownish twisted (kinky) hair accompanied by growth retardation and intellectual disability. Reduced nitric oxide (NO) production contributes to infantile hypertrophic pyloric stenosis (IHPS) because NO plays an important role in smooth muscle relaxation. Here we describe a case of Menkes disease and IHPS in a 72-day-old male patient with severe persistent vomiting and convulsions with a novel ATP7A mutation.
유전자 검사로 진단된 제2형 Crigler-Najjar 증후군 1예
김상이,이수현,고홍,이승태,기창석,김종원,정기섭,Kim, Sang-Yee,Lee, Soo-Hyun,Koh, Hong,Lee, Seung-Tae,Ki, Chang-Seok,Kim, Jong-Won,Chung, Ki-Sup 대한소아소화기영양학회 2008 Pediatric gastroenterology, hepatology & nutrition Vol.11 No.2
저자들은 4개월간 지속된 황달을 주소로 내원한 13년 6개월 남아에서 유전자 검사로 UGT1A1 유전자의 5번째 exon에서 1456번째 염기 치환(1456T>G)으로 인한 486번째 아미노산인 tyrosine이 aspartate로 치환된 변이(Y486D)를 확인하고 제2형 Crigler-Najjar 증후군으로 진단한 증례를 경험하였기에 보고한다. Crigler-Najjar syndrome is a rare inherited disease associated with unconjugated hyperbilirubinemia. It is inherited via an autosomal recessive pattern and is caused by mutation in one of the five exons of the bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) gene. The synthesis of inactive isoforms of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (B-UGT) results in unconjugated hyperbilirubinemia. A 13-year-old boy with jaundice for 4 months was admitted to our hospital. He had unconjugated hyperbilirubinemia with no evidence of infection, hemolysis, or structural abnormalities on abdominal ultrasonography or 99mTc-DISIDA scan. The authors identified a missense mutation of Tyr486Asp in the fifth exon of the UGT1A1 gene and diagnosed the patient with Crigler-Najjar syndrome type II. This is the first reported case of Crigler-Najjar syndrome in a Korean child, and it is also the first reported case of a genetic mutation leading to Crigler-Najjar syndrome in Korea.
DHCR 7 유전자 돌연변이로 확진된 스미스-렘리-오피츠 증후군 1례
정유주,허림,권영희,이지은,조성윤,기창석,진동규,Jeong, Yu Ju,Huh, Rimm,Kwun, Younghee,Lee, Jieun,Cho, Sung Yoon,Ki, Chang-Seok,Jin, Dong-Kyu 대한유전성대사질환학회 2014 대한유전성대사질환학회지 Vol.14 No.1
스미스-렘리-오피츠 증후군은 상염색체 열성유전질환으로 콜레스테롤 합성의 장애로 나타나는 질병이다. 7-dehydrochlolesterol reductase 유전자의 변이로 인하여 콜레스테롤을 합성하지 못함으로써 정신지체, 자폐증, 발육부진, 내부장기 기형, 손과 발의 기형, 면역기능 저하, 소화기 및 시력의 문제 등이 나타난다. 이 질환은 경미한 증상에서부터 치명적인 증상까지 다양한 스펙트럼을 가진다. 저자들은 다양한 기형을 가진 환아에서 조기에 스미스-렘리-오피츠 증후군을 유전자 분석을 통하여 진단하였으며, 조기 진단 후 식이진행 및 기형에 대한 치료, 콜레스테롤을 보충 하였으며, 이를 문헌고찰과 함께 보고하는 바이다. Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disease caused by a defect in cholesterol biosynthesis. This mutation encodes 7-dehydrocholesterol reductase (DHCR7), which is located on chromosome 11q13. It is characterized by typical facial appearances, microcephaly, small up-turned nose, cleft palate, syndactyly, and is correlated with cardiac, gastrointestinal and genital malformations. There may also be mental retardation, behavioral problems and growth retardation. It causes a broad spectrum of effects, ranging from a mild disorder of learning and behavior to a lethal malformation. There are four reports of Smith-Lemli-Opitz syndrome in Korean children. Here, we describe a two months old female with microcephaly, toe syndactyly and a cleft soft palate who was diagnosed as SLOS with c. 1054 C>T (p.R352W) and c.907G>A (p. G303R) mutations.
ABCD1 유전자 c.1252C>T의 돌연변이가 확인된 X-연관성 대뇌부신백질형성장애 1례
김유선,허림,권영희,이지은,조성윤,기창석,진동규,Jeong, Yu Ju,Huh, Rimm,Kwun, Younghee,Lee, Jieun,Cho, Sung Yoon,Ki, Chang-Seok,Jin, Dong-Kyu 대한유전성대사질환학회 2014 대한유전성대사질환학회지 Vol.14 No.1
부신백질형성장애는 성염색체-연관성 유전대사 질환으로 ABCD1 유전자의 돌연변이에 의해 발생한다. 이중 대뇌 부신백질형성장애는 부신백질형성장애의 한 표현형으로, 급격한 뇌백질의 탈수초화와 부신 기능 부전을 보인다. 9세 남아가 인지 및 신경 기능의 퇴행을 주소로 내원하여 시행한 혈청 내 매우 긴 사슬 지방산이 증가되어 있었고 뇌 MRI에서 특징적인 양쪽 두정-후두엽 백질의 대칭적 고신호강도 소견을 보였으며 ABCD1 유전자에 돌연변이 c. 1252C>T (p.Arg418 Trp)가 발견되어 이를 보고하는 바이다. Adrenoleukodystrophy is an X-linked genetic disease resulting from mutations in the ABCD1 gene. Cerebral adrenoleukodystrophy is one of the phenotypes of adrenoleukodystrophy and shows progressive demyelination of brain white matter and adrenal insufficiency. We report a nine year old male who presented with rapidly progressive cognitive and neurologic deterioration. He had abnormal findings in brain imaging and elevated very long chain fatty acid level in serum. Mutation analysis of ABCD1 revealed a c. 1252C>T (p.Arg418Trp) mutation which was previously known but not reported in Korea.
김묘징 ( Myo Jing Kim ),이기열 ( Ki Yeol Lee ),기창석 ( Chang Seok Ki ),송기훈 ( Ki Hoon Song ),김영훈 ( Young Hun Kim ) 대한피부과학회 2011 대한피부과학회지 Vol.49 No.2
Incontinentia pigmenti (IP) is a rare X-linked dominant, multisystem genodermatosis that affects ectoderm-derived structures. Its cutaneous manifestations are usually subdivided into the vesicular, verrucous, hyperpigmented, and hypopigmented or atrophic stages. IP can also affect other ectoderm-derived structures, such as, hair, nails, teeth, eyes, and the central nervous and musculoskeletal systems. About 80% of IP patients have genomic deletions of exons 4∼10 of the NEMO (NF-κB-Essential MOdulator) gene, also known as the IKKy (gamma-subunit of the inhibitor κB kinase), which is essential for the activation of the NF-κB pathway. The female infant presented in this case report was born to healthy non-consanguineous parents and showed vesiculopustular eruptions with a NEMO gene rearrangement. No IP case has been previously reported to be related to a NEMO gene mutation in South Korea. In other words, this is the first report to confirm the relation between IP and mutation of the NEMO gene in Koreans. (Korean J Dermatol 2011; 49(2):164∼168)
김지현,이선주,김애숙,조성민,이동석,김두권,최성민,기창석,김종원,Kim Ji Hyun,Lee Sun Ju,Kim Ae Suk,Cho Sung Min,Lee Dong Seok,Kim Doo Kwun,Choi Sung Min,Ki Chang Seok,Kim Jong Won 대한소아신장학회 2005 Childhood kidney diseases Vol.9 No.2
저자들은 불규칙한 발열은 주소로 내원한 5개월 된 어린 영아에서 유전자 검사를 통하여 선천성 신성 요붕증을 조기 확진하였으며 thiazide 치료에 반응을 보였기에 문헌고찰과 함께 보고하는 바이다. Nephrogenic diabetes insipidus(NBI) is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone; arginine vasopressin(AVP). Polyuria with hyposthenuria, and polydipsia are the cardinal clinical manifestations of the disease. Ninety percent of congenital nephrogenic diabetes insipidus patients are males with the X-linked recessive form of the disease; the mutation is in the AVP receptor 2 gene(AVPR2), which is located in chromosomal region Xq28. We report a case of NDI who suffered from unexplained fever and failure to thrive, which has been recognized since about ,3 months after birth. His genomic DNA analysis identified a novel AVPR2 gene mutation as W200C. (J Korean Soc Pediatr Nephrol 2005;9:269-274)