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Identification of the Housekeeping Genes Using Cross Experiments via in silico Analysis
Won Cheol Yim,Changwon Keum,Saehwan Kim,장철성,이병무 한국작물학회 2010 Korean journal of crop science Vol.55 No.4
For sensitive and accurate gene expression analysis, normalization of gene expression data against housekeeping genes is required. There are conventional housekeeping gene (e.g. ACT) that primarily function as an internal control of transcription. In this study, we performed an in silico analysis of 278 rice gene expression samples (GSM) in order to identify the gene that is most consistently expressed. Based on this analysis, we identified novel candidate housekeeping genes that displayed improved stability among the cross experimental conditions. Furthermore four of the most conventional housekeeping genes were included in our 30 other housekeeping genes among the most stable genes. Therefore, these 30 genes can be used to normalize transcription results in gene expression studies on rice at a broad range of experimental conditions.
Identification of the Housekeeping Genes Using Cross Experiments via in silica Analysis
Won Cheol Yim,Changwon Keum,Saehwan Kim,Cheol Seong Jang,Byung-Moo Lee 韓國作物學會 2010 Korean journal of crop science Vol.55 No.4
For sensitive and accurate gene expression analysis, normalization of gene expression data against housekeeping genes is required. There are conventional housekeeping gene (e.g. ACT) that primarily function as an internal control of transcription. In this study, we performed an in silico analysis of 278 rice gene expression samples (GSM) in order to identify the gene that is most consistently expressed. Based on this analysis, we identified novel candidate housekeeping genes that displayed improved stability among the cross experimental conditions. Furthermore four of the most conventional housekeeping genes were included in our 30 other housekeeping genes among the most stable genes. Therefore, these 30 genes can he used to normalize transcription results in gene expression studies on rice at a broad range of experimental conditions.
Yoo Sukdong,Yoon Ju Young,Keum Changwon,Cheon Chong Kun 대한소아내분비학회 2023 Apem Vol.28 No.1
Follicle-stimulating hormone receptor (FSHR) mutation is a rare cause of amenorrhea. We report the first case of FSHR mutations in Korea. Two female siblings aged 16 (patient 1) and 19 (patient 2) years were referred to the pediatric endocrinology clinic because of primary amenorrhea despite normal breast budding. Gonadotropin-releasing hormone stimulation test showed markedly elevated luteinizing hormone and follicle-stimulating hormone with a relatively low level of estrogen, suggesting hypergonadotropic hypogonadism. Pelvic magnetic resonance imaging revealed a bicornuate uterus in patient 1 and uterine hypoplasia with thinning of the endometrium in patient 2. The progesterone challenge test revealed no withdrawal of bleeding. After 2 months of administration of combined oral contraceptives, menarche was initiated at regular intervals. To determine the genetic cause of amenorrhea in these patients, whole-exome sequencing (WES) was performed and revealed a compound heterozygous FSHR mutation, i.e., c.1364T>G (p.Val455Gly) on exon 10 and c.374T>G (p.Leu125Arg) on exon 4. Both of these were novel mutations and were confirmed by Sanger sequencing. Both patients maintained regular menstruation and improved bone mineral density while taking combined oral contraceptives, calcium, and vitamin D. Therefore, FSHR mutations can be the cause of amenorrhea in Koreans, and WES facilitates the diagnosis of rare causes of amenorrhea.
Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome
Son Hyun Woo,Lee Jeong Eun,오승환,Keum Changwon,Chung Woo Yeong 대한소아내분비학회 2020 Annals of Pediatirc Endocrinology & Metabolism Vol.25 No.2
Floating-Harbor syndrome is a rare autosomal dominant disorder that presents with short stature, facial dysmorphism, significantly delayed bone age, skeletal abnormalities, speech and language problems, and intellectual disabilities. Although short stature is one of the main clinical manifestations, use of growth hormone therapy in Floating-Harbor syndrome patients has been limited. Only a few reports have investigated the response to growth hormone therapy with regard to final adult height. We report the case of a 7-year-old girl with Floating-Harbor syndrome and a heterozygous mutation, c.7330C > T (p.Arg2444*), in the SRCAP gene. The patient exhibited dysmorphic facial features, severe intellectual disabilities, obsessive-compulsive and aggressive behaviors, and short stature without growth hormone deficiency. Her height standard deviation score improved after 55 months of growth hormone therapy.
전종근,신용범,김수연,Go Hun Seo,Hane Lee,Changwon Keum,오승환 대한의학유전학회 2022 대한의학유전학회지 Vol.19 No.2
Purpose: Whole-exome sequencing (WES) has been a useful tool for novel gene discovery of various disease categories, further increasing the diagnostic yield. This study aimed to investigate the clinical utility of WES prospectively in undiagnosed genetic diseases. Materials and Methods: WES tests were performed on 110 patients (age range, 0-28 years) with suspected rare genetic diseas-es. WES tests were performed at a single reference laboratory and the variants reported were reviewed by clinical geneticists, pediatricians, neurologists, and laboratory physicians. Results: The patients’ symptoms varied with abnormalities in the head or neck, including facial dysmorphism, being the most common, identified in 85.4% of patients, followed by abnormalities in the nervous system (83.6%). The average number of systems manifesting phenotypic abnormalities per patient was 3.9±1.7. The age at presentation was 2.1±2.7 years old (range, 0-15 years), and the age at WES testing was 6.7±5.3 years (range, 0-28 years). In total, WES test reported 100 pathogenic/likely pathogenic variants or variants of uncertain significance for 79 out of 110 probands (71.8%). Of the 79 patients with positive or inconclusive calls, 55 (50.0%) patients were determined to have good genotype-phenotype correlations after careful re-view. Further clinical reassessment and family member testing determined 45 (40.9%) patients to have been identified with a molecular diagnosis. Conclusion: This study showed a 40.9% diagnostic yield for WES test for a heterogeneous patient cohort with suspected rare genetic diseases. WES could be the feasible genetic test modality to overcome the diversity and complexity of rare disease diagnostics.
인도네시아 석탄 탐사에 관한 고찰 : 해외자원개발 조사사업 지원사례들
최영기(Younggi Choi),김병한(Byounghan Kim),송영현(Younghyun Song),금교진(Gyojin Keum),성준영(Junyoung Sung),서창원(Changwon Seo) 대한자원환경지질학회 2022 자원환경지질 Vol.55 No.2
인도네시아 석탄은 중국, 인도, 한국 등 아시아의 주요 국가들에서 에너지원으로써 널리 소비되고 있다. 민간기업들의 높은 수요로 인해, 인도네시아 석탄 탐사사업은 해외자원개발 조사사업을 통해 가장 많이 지원된 국가이자 광종이다. 본 논문에서는 석탄 탐사를 통해 그동안 축적된 탐사자료를 활용하여 인도네시아 함탄분지와 함탄층의 특성에 대해 종합하여 고찰하고자 한다. 인도네시아의 동부 깔리만탄과 수마트라의 신생대 제3기 퇴적분지들은 동아시아에서 가장 생산적인 함탄분지들이다. 주요 탄층의 산출특성은 지질시대별로 차이를 보인다. 깔리만탄의 바리또 분지와 아셈아셈 분지 내 에오세 탄층들은 탄폭은 얇고 부존 매수가 적은 경향이 있으나, 고열량의 양호한 탄질로 인하여 일찍부터 주요 탐사대상이었다. 후기 올리고세-전기 마이오세 탄층들은 소규모로 부존하지만, 중소규모의 탄광으로 개발하기에 적합하다. 동부 깔리만탄과 수마트라에 걸쳐 광역적으로 분포하는 마이오세-플라이오세 탄층들은 낮은 열량에도 불구하고, 두꺼운 탄폭과 다량의 부존매수의 이점을 활용하여 활발히 개발되고 있다. 다양한 사례들은 효율적이고 성공적인 탐사를 위해 함탄층의 지질학적 부존여건에 대한 전반적인 이해가 선행될 필요가 있음을 보여준다. 본 논문에서 제공하는 인도네시아 함탄분지와 함탄층에 대한 전문학술정보는 향후 우리나라 기업들의 탐사활동에 유용한 참고자료로 활용될 것으로 기대된다. Indonesia coal is widely consumed as a major energy source in Asian countries, such as China, India, and Korea. In the paper, the characteristics of the coal-bearing basin and coal deposits in Indonesia are comprehensively reviewed using the exploration data accumulated through the coal exploration projects supported by Korean government subsidy. Cenozoic coal bearing sedimentary basins in Indonesia extensively contain coal deposits and are most productive in East Asia. Properties of coal deposits are variable depending on stratigraphy, depositional histories and tectonics. Eocene coal deposits tend to have thinner coal thickness and fewer numbers of coal seams, but have been major exploration targets due to higher calorific value and good coal quality. Late Oligocene-Early Miocene coal deposits occur in small scales, but are suitable enough for small to medium-sized coal mines. Miocene-Pliocene coal deposits, which are widely distributed across East Kalimantan and Sumatra, are being actively mined by taking advantage of thick coal thickness and abundant reserves in spite of their lower calorific values. The experience of various exploration informs that we need to have an overall understanding on geological conditions for successful coal exploration. The details on coal-bearing basin and coal deposits in Indonesia provided through the paper will be useful data for up-coming exploration activities by Korean companies.