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Expanding the Clinical and Genetic Spectrum of Caveolinopathy in Korea
Seungbok Lee,Soo Yeon Kim,Byung Chan Lim,Ki Joong Kim,Jong Hee Chae,Anna Cho 대한소아신경학회 2022 대한소아신경학회지 Vol.30 No.3
Purpose: Caveolinopathy is a disease caused by caveolin-3 (CAV3) mutations that shows a wide clinical spectrum, including isolated hyperCKemia and limb-girdle muscular dystrophy. While recent advances in next-generation sequencing (NGS) have enabled earlier diagnosis of this disease, it remains difficult to predict the clinical course of each patient. Methods: This study summarizes the clinical presentations of 13 genetically confirmed caveolinopathy patients in four Korean families. Genetic diagnosis was performed using NGS technologies for probands and Sanger sequencing for the other family members. Results: Four coding mutations were found (p.Val103_Val104del, p.Asp28Glu, p.Pro105Leu, and p.Arg27Gln), and each family showed autosomal dominant inheritance. While all 13 cases had hyperCKemia, only five of them showed some myopathic features including ankle contracture, calf hypertrophy, exercise intolerance, and muscle cramping. This high proportion of asymptomatic cases suggests both that these mutations may be associated with a mild phenotype and that caveolinopathy may be an underdiagnosed disease. Conclusion: This study extends our understanding of caveolinopathy; in particular, the findings suggest the need to consider caveolinopathy in patients with incidental findings of creatine kinase elevation. NGS may be a useful method in the differential diagnosis of such cases.
MICAL-like Regulates Fasciclin II Membrane Cycling and Synaptic Development
Seungbok Lee,Minyeop Nahm,Sunyoung Park,이지혜 한국분자세포생물학회 2016 Molecules and cells Vol.39 No.10
Fasciclin II (FasII), the Drosophila ortholog of neural cell adhesion molecule (NCAM), plays a critical role in synaptic stabilization and plasticity. Although this molecule undergoes constitutive cycling at the synaptic membrane, how its membrane trafficking is regulated to ensure proper synaptic development remains poorly understood. In a genetic screen, we recovered a mutation in Drosophila mical-like that displays an increase in bouton numbers and a decrease in FasII levels at the neuromuscular junction (NMJ). Similar phenotypes were induced by presynaptic, but not postsynaptic, knockdown of mical-like expression. FasII trafficking assays revealed that the recycling of internalized FasII molecules to the cell surface was significantly impaired in mical-like-knockdown cells. Importantly, this defect correlated with an enhancement of endosomal sorting of FasII to the lysosomal degradation pathway. Similarly, synaptic vesicle exocytosis was also impaired in mical-like mutants. Together, our results identify Mical-like as a novel regulator of synaptic growth and FasII endocytic recycling.
Reflective ELT Practice for Primary School EFL Teacher Education
Seungbok Lee 한국중앙영어영문학회 2004 영어영문학연구 Vol.46 No.4
Showing various teaching methods in an effort to maximize the effect of his teaching, the author described some major teaching strategies he made for his 'English Pronunciation' and 'General English Conversation' courses. For his foreign language teaching method(s), the author does not prefer any particular method or approach to others. The author showed how he used a different method depending on the context or modified the same method differently according to the context, which included learners' proficiency levels, their needs, time, students number in classroom, goal(s) of the subject, his own ability and skill as a teacher. With regard to the nature of language in his foreign language teaching, the author believed that structural view, functional view, and interactional view should all be reflected in the Korean EFL context. It was clear that these three views were equally realized in his teaching. Based on his working experience with Korean teachers of English, the author suggested four maxims for university-level foreign language classrooms: make student(s) have a fun and interest in class; foster their confidence in classroom activities; provide them with a good quality of input, and increase the degree of target language use by both teacher and students as much as possible.
A familial case of limb-girdle muscular dystrophy with CAV3 mutation
Seungbok Lee,Sesong Jang,Youngkyu Shim,Woo Joong Kim,Soo Yeon Kim,Anna Cho,Hunmin Kim,Jong-Il Kim,Byung Chan Lim,Hee Hwang,Jieun Choi,Ki Joong Kim,Jong Hee Chae 대한의학유전학회 2019 대한의학유전학회지 Vol.16 No.2
Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies that has extremely heterogeneous clinical fea-tures and genetic background. The caveolin-3 gene (CAV3) is one of the causative genes. LGMD appears as a clinical contin-uum, from isolated skeletal muscle involvement to long QT syndrome. Here we report two patients without apparent muscle weakness in a family with CAV3 mutation.A 7-month-old Korean boy visited our muscle clinic because of an incidental ἀnding of elevated serum creatine kinase (CK) concentration (680 IU/L, reference range, 20-270 IU/L) without clinical symptoms. The patient was born after an uneventful pregnancy and showed normal developmental milestones. He developed pseudohypertrophy of his calf muscle during the follow-up. We obtained a muscle biopsy at age 14 months, which showed size variations and degenerating/regenerating myo-ἀbers with endomysial ἀbrosis and immunohistochemical evidence of normal dystrophin. Under the impression of LGMD, we performed target panel sequencing and identiἀed a heterozygous in-frame mutation of CAV3, c.307_312delGTGGTG (p.Val103_Val104del). Immunohistochemical staining of muscle indicated complete loss of caveolin-3 compared with normal control muscle, which supported the variant’s pathogenicity. We performed segregation analysis and found that the patient’s mother had the same variant with elevated serum CK level (972 IU/L). We report on autosomal dominant familial caveolinopathy caused by a pathogenic variant in CAV3, which was asymptom-atic until the fourth decade. This case highlights the utility of next generation sequencing in the diagnosis of muscular dystro-phies and the additive role of muscle biopsy to conἀrm the variants.
Single cell heterogeneity in human pluripotent stem cells
( Seungbok Yang ),( Yoonjae Cho ),( Jiwon Jang ) 생화학분자생물학회 2021 BMB Reports Vol.54 No.10
Human pluripotent stem cells (hPSCs) include human embryonic stem cells (hESCs) derived from blastocysts and human induced pluripotent stem cells (hiPSCs) generated from somatic cell reprogramming. Due to their self-renewal ability and pluripotent differentiation potential, hPSCs serve as an excellent experimental platform for human development, disease modeling, drug screening, and cell therapy. Traditionally, hPSCs were considered to form a homogenous population. However, recent advances in single cell technologies revealed a high degree of variability between individual cells within a hPSC population. Different types of heterogeneity can arise by genetic and epigenetic abnormalities associated with long-term in vitro culture and somatic cell reprogramming. These variations initially appear in a rare population of cells. However, some cancer-related variations can confer growth advantages to the affected cells and alter cellular phenotypes, which raises significant concerns in hPSC applications. In contrast, other types of heterogeneity are related to intrinsic features of hPSCs such as asynchronous cell cycle and spatial asymmetry in cell adhesion. A growing body of evidence suggests that hPSCs exploit the intrinsic heterogeneity to produce multiple lineages during differentiation. This idea offers a new concept of pluripotency with single cell heterogeneity as an integral element. Collectively, single cell heterogeneity is Janus-faced in hPSC function and application. Harmful heterogeneity has to be minimized by improving culture conditions and screening methods. However, other heterogeneity that is integral for pluripotency can be utilized to control hPSC proliferation and differentiation. [BMB Reports 2021; 54(10): 505-515]
강승복 ( Seungbok Kang ) 한국노동경제학회 2016 勞動經濟論集 Vol.39 No.4
본 논문은 최저임금의 사업체 내 임금압축 효과를 다룬 것이다. 분석 결과 사업체 내 최저임금 비중의 증가는 사업체 내 임금분포를 압축시키는 것으로 나타났다. 또한, 최저임금 비중이 큰 사업체일수록 사업체 평균임금이 낮아지는데 이때 고임금 그룹의 하락폭이 저임금 그룹보다 더 크게 나타나며, 저임금 대비 고임금 근로자의 상대임금도 최저임금 비중이 큰 사업체일수록 작아지는 것을 확인할 수 있었다. 본 논문은 다음과 같은 것을 시사한다. 최저임금 인상은 직접적으로는 저임금 근로자의 임금을 상승시키며, 간접적으로는 고임금 근로자의 임금을 하락시키거나 상승폭을 둔화시켜 결과적으로 임금분포를 압축시킨다. 따라서 정책적으로 최저임금의 인상은 임금 불평등도를 낮추는 효과를 얻을 수 있을 것으로 기대된다. This study analyzes the effect of a minimum wage on the wage compression within Korean establishments. The results are as follows. Firstly, increases of a ratio of workers who get minimum wage within establishments have a effect to compress the wage distribution within establishments. Secondly, the establishment average wages get lower as their minimum wage ratios get larger. In this situation, high wage group`s wages fall deeply than low wage group`s these. Thirdly, the relative wages of high wage group to low wage group tend to be small as their minimum wage ratios get larger. To conclude, a increase of minimum wage has a effect to raise low wage workers` wages directly, and to reduce high wage workers` wages or increase rates indirectly. And the wage distributions are compressed as a result. So government`s policy to increase minimum wage will have a result in reducing wage inequality.