Young-Eun Kim

In 2015, the American College of Medical Genetics and Genomics (ACMG), together with the Association for Molecular Pathology (AMP), published the latest guidelines for the interpretation of sequence variants, which have been widely adopted into clinical practice. Despite these standardized efforts, the degrees of subjectivity and uncertainty allowed by the guidelines can lead to inconsistent variant classification across clinical laboratories, making it difficult to assess the pathogenicity of i

NF-kappaB is a transcriptional regulator involved in many biological processes including proliferation, survival, and differentiation. Recently, we reported that expression and activity of NF-kappaB is comparatively low in undifferentiated human embryonic stem (ES) cells, but increases during differentiation. Here, we found a lower expression of NF-kappaB p65 protein in mouse ES cells when compared with mouse embryonic fibroblast cells. Protein levels of NF-kappaB p65 and relB were clearly enhan

We recently reported that transplantation of mesenchymal stem cells (MSCs) significantly reduced bacterial growth and brain injury in neonatal meningitis induced by Escherichia coli (E. coli) infection in newborn rats. As a next step, to verify whether the MSCs protect against brain injury in a paracrine manner, this study was designed to estimate the efficacy of MSC-derived extracellular vesicles (MSC-EVs) in E. coli meningitis in newborn rats. E. coli meningitis was induced without concomitant

Embryonic stem (ES) cells can self-renew and differentiate to various cells depending on the culture condition. Although ES cells are a good model for cell type specification and can be useful for application in clinics in the future, studies on ES cells have many experimental restraints including low transfection efficiency and transgene expression. Here, we observed that transgene expression after transfection was enhanced by treatment with histone deacetylse (HDAC) inhibitors such as trichost

홍국 배아미 5%와 10% 벌꿀용액으로 제조한 홍국 발효액종을 10-40% 첨가하여 밀가루 반죽의 레올로지 특성으로 falling number, RVA(rapid visco analyzer), farinograph, alveograph 등을 분석하였다. 홍국 발효액종 첨가량이 증가할수록 falling number 값이 낮아졌으며 10% 첨가시 <TEX>$363{\pm}7.8s$</TEX>, 20% 첨가시 <TEX>$318{\pm}2.1s$</TEX>이었다. 호화도 특성에서 홍국 발효액종 첨가량이 증가할수록 초기점도 온도와 breakdown은 상승하였고, 최고점도와 set-back값은 낮아졌다. Farinograph에서 대조구와 시험구간에 흡수율은 64.3-65.0%로 유의적 차이가 없었으나 반죽형성시간은 발효액종의 첨가량이 증가할수록 빨라졌고, 안정도는 저하되어 20% 첨가시는 9.3 min, 40% 첨가시는 3.0 min이었으며 약화도도 빨라졌다. Alveograph에서 <TEX>

Abstract Pathogenic variants in the PSEN1 gene are known to be the most common cause of early-onset Alzheimer’s disease but there are few data on the frequency and spectrum of PSEN1 variants in Korea. In this study, we investigated PSEN1 variants in a consecutive series of clinically suspicious early-onset familial AD (EOFAD) Korean patients and their clinical characteristics and imaging findings. From January 2007 to December 2013, EOFAD patients with very early onset AD (&lt;50 yr), early onse

Mucopolysaccharidosis (MPS) IIIB is a lysosomal storage disorder (LSD) caused by abnormalities of the enzyme α-N-acetylglucosaminidase (NAGLU) that is required for degradation of heparan sulfate. The patient in this study was a 4-yr-old boy. He presented with normal height and weight, pectus carinatum, and multiple persistent Mongolian spots on his back. He had mild dysmorphic features with prominent speech developmental delays and, to a lesser extent, motor developmental delays. The cetylpyridi

Human embryonic stem (ES) cells are a potential source of cells for developmental studies and for a variety of applications in transplantation therapies and drug discovery. However, human ES cells are difficult to culture and maintain at a large scale, which is one of the most serious obstacles in human ES cell research. Culture of human ES cells on MEF cells after disassociation with accutase has previously been demonstrated by other research groups. Here, we confirmed that human ES cells (H9)