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Neonatal Type 2 Gaucher Disease with Congenital Ichthyosis: A Case Report
( Hakmin Lee ),( Jiyoung Oh ),( Jungho Han ),( Min Jung Lee ),( Joonsik Park ),( Seung Hwan Baek ),( Rita Yu ),( Ho Seon Eun ),( Min Soo Park ),( Jeong Eun Shin ) 대한주산의학회 2021 Perinatology Vol.32 No.4
Gaucher disease (GD) is a rare autosomal recessive genetic disease. The symptoms and age of onset vary depending on the subtype. Type 2 GD is potentially lethal, and the mean lifespan is less than 2 years. Due to rapid disease progression, early diagnosis of type 2 GD is important. Here, we present an infant with congenital ichthyosis and rigidity with joint contracture, who later presented with bulbar involvement. Feeding difficulty, apnea, hepatosplenomegaly, and thrombocytopenia were also evident. She was diagnosed with type 2 GD via whole-exome sequencing, which showed 2 pathogenic variants in GBA as a compound heterozygote: Arg296Gln (c.887G>A) and Pro24His (c.719C>A). Congenital ichthyosis with progressive respiratory and neurologic impairment may be key clinical findings for the early diagnosis of type 2 GD.
Hakmin Lee,Dong Hwan Lee,Younsoo Chung,Ngoc Ha Nguyen,Jong Jin Oh,Sangchul Lee,Sang Eun Lee,Sung Kyu Hong,Seok-Soo Byun 대한비뇨기종양학회 2017 대한비뇨기종양학회지 Vol.15 No.3
Purpose: We tried to investigate the clinical impact of Ki-67 (MIB-1) expression on the oncological and survival outcomes in patients with bladder cancer (BCa) after the radical cystectomy. Materials and Methods: We retrospectively analyzed the data of 230 patients who were treated by radical cystectomy for BCa. Multivariate Cox-proportional hazards models and logistic regression tests were performed to evaluate the prognostic value of each variable. Results: The patients with positive Ki-67 expression showed significant worse clinical characteristics and pathologic outcomes than negative Ki-67 group. Furthermore, the patients with Ki-67 expression showed significant worse recurrence (p=0.018) and cancer-specific mortality free survival (p=0.019) than negative Ki-67 group. The overall survival was also revealed to be inferior in Ki-67 positive group than Ki-67 negative group but the statistical significance was marginal (p=0.062). Subsequent multivariate Cox analyses showed that Ki-67 was independent predictor for disease recurrence after surgery (hazard ratio, 3.142; 95% CI, 1.287–7.671; p=0.012). Conclusions: In our study, high Ki-67 expression was significantly related with worse clinical outcomes after radical cystectomy in the patients with BCa. Further prospective and basic researches are needed to validate the true prognostic value of Ki-67.
Insights into solute carriers as targets for cellular transport and drug development
Hakmin Lee,In Seon Jeon,Hyun Jung Kim 한국구조생물학회 2020 Biodesign Vol.8 No.1
The field of substrate transport systems has grown steadily over the past decade and is now considered important for developing treatments to diseases. Human solute carriers (SLCs) consist of more than 420 different transporters, organized into 65 families (http://slc.bioparadigms.org/) according to sequence homology and transport functions. SLCs mediate the movement of ions, drugs, and metabolites across cell membranes, and dysfunction is associated with various diseases such as diabetes, cancer, and central nervous system (CNS) disorders. Thus, SLCs are emerging as important targets for therapeutic intervention and drug discovery. Despite their importance, sequence and structural information on SLCs is lacking, but recent biochemical and computational advances have expanded our understanding of SLC pharmacology. In particular, structures of SLCs elucidated by X-ray crystallography and cryo-electron microscopy (EM) have facilitated structure-based ligand prediction, comparison and modeling of SLC transporters, and virtual screening of small molecule libraries. Most available SLC structures are from prokaryotes, all SLC structures are classified into four major groups based on protein fold, and major facilitator superfamily (MFS) and leucine transporters (LeuT) have received most attention. This review systematically analyses the structures of different SLCs, and their molecular mechanisms of action and substrate recognition. Understanding drug-transporter interactions at the molecular level is essential for designing drugs with optimal therapeutic effects. Finally, we summarize the latest research trends, applications and computational approaches to developing solutes selectivity and inhibitors, including modelling techniques focused on the structure-based drug design for human SLC transporters.
PC3DR2 전립선암세포주의 Doxetaxel 내성 발현에서 세포고사관련 유전자의 이질적 발현
이학민(Hakmin Lee),호진녕(Jin-Nyoung Ho),이상철(Sang Chul Lee),오종진(Jong Jin Oh),홍성규(Sung Kyu Hong),이상은(Sang Eun Lee),변석수(Seok-Soo Byun) 대한비뇨기종양학회 2014 대한비뇨기종양학회지 Vol.12 No.2
Purpose: To understand the role of the apoptotic pathway of docetaxel- resistant human prostate cancer cell line (PC3DR2). Materials and Methods: PC3DR2 was established from the PC3 prostate cancer cell line by continuous exposure of escalating concentrations of docetaxel. Total RNA of PC3 and PC3DR2 were collected and cDNA microarray test was performed using GeneChip<SUP>ⓡ</SUP> Human Genome U133 Plus 2.0 Array. GenePlex<SUP>ⓡ</SUP> software was used for data analysis. Significantly different genes were identified with the cutoff 2.0 of fold change and p-value under 0.05 of Welch’s T-test. The apoptotic pathway heatmap was acquired to identify roles of apoptosis-related genes in development of docetaxel-resistance of PC3DR2. Results: There were 833 up-regulated and 908 down-regulated genes in the PC3DR2 compared to the control PC3. There were 72 significantly changed KEGG pathways in the PC3DR2 (cutoff: p<0.05). There were 3 up-regulated (TRADD and 2 FLIPs) and 6 down-regulated (IAP, IKK, Bax, Akt/PKB, PKA and calcineurin) genes in the apoptotic pathway. These 9 changes led to 4 pro-apoptotic and 5 anti-apoptotic processes, indicating contradictory changes in the pathway. Conclusions: Heterogeneous expressions of apoptosis-related genes were identified in the development of docetaxel resistance of the PC3DR2.
Lee, Hakmin,Lee, In Jae,Byun, Seok-Soo,Lee, Sang Eun,Hong, Sung Kyu Elsevier 2017 Clinical genitourinary cancer Vol.15 No.6
<P><B>Abstract</B></P> <P><B>Background</B></P> <P>To investigate the feasibility of active surveillance (AS) in biopsy Gleason score (GS) 3 + 4 prostate cancer (PCa), we compared the outcomes of biopsy GS 3 + 3 and 3 + 4 PCa after radical prostatectomy.</P> <P><B>Patients and Methods</B></P> <P>We analyzed the data of 1491 patients undergoing radical prostatectomy for biopsy GS 3 + 3 or 3 + 4 PCa who fulfilled the low-risk criteria of the National Comprehensive Cancer Network guidelines regardless of GS. The favorable GS 3 + 4 group was defined as having core involvement ≤ 50%, prostate-specific antigen density ≤ 0.2 ng/mL/cm<SUP>3</SUP>, and number of positive cores ≤ 2 (maximal 1 core of GS 3 + 4).</P> <P><B>Results</B></P> <P>The GS 3 + 4 group showed significantly worse pathologic outcomes, including pathologic GS, pathologic stage, and seminal vesicle invasion rate (all <I>P</I> < .001), as well as worse biochemical recurrence–free survival (<I>P</I> < .001) than the GS 3 + 3 group. However, the favorable GS 3 + 4 subgroup showed no significant differences in the pathologic outcomes (all <I>P</I> > .05) and in biochemical recurrence–free survival (<I>P</I> = .817) compared to the GS 3 + 3 group.</P> <P><B>Conclusion</B></P> <P>Despite the application of low-risk criteria, GS 3 + 4 PCa patients showed significantly worse outcomes than GS 3 + 3 patients. However, favorable GS 3 + 4 patients showed comparable clinicopathologic outcomes with GS 3 + 3 patients, suggesting possible expansion of AS for the favorable GS 3 + 4 group.</P>
Kim, Hakmin,Hyeong, Seonghoon,Hong, Jung Hyun,Kim, Ah Reum,Shin, Moon Sam,Kim, Hwayong Elsevier 2015 The Journal of chemical thermodynamics Vol.86 No.-
<P><B>Abstract</B></P> <P>Isothermal (vapor+liquid) equilibrium data for the binary mixtures of (propylene oxide+ethanol) and (propylene oxide+1-propanol) were measured using a static apparatus at three different temperatures ranging from (303.15 to 333.15)K at an interval of 15K. The measured data were correlated using Peng–Robinson–Stryjek–Vera equation of state (PRSV EOS) combined with van der Waals one-fluid mixing rule for the vapor phase and with Wong-Sandler mixing rule involving a non-random two liquid (NRTL) model, universal quasi-chemical (UNIQUAC) model and Wilson model for the liquid phase. The experimental data are in good agreement with the correlation results.</P> <P><B>Highlights</B></P> <P> <UL> <LI> Phase equilibrium data for propylene oxide with alcohols were investigated. </LI> <LI> The experimental data were correlated with PRSV EOS. </LI> <LI> Van der Waals one fluid and Wong–Sandler mixing rule were used. </LI> <LI> NRTL, UNIQUAC, Wilson models were chosen as <I>G</I> <SUP>E</SUP> models. </LI> <LI> The experimental data are fit well with all three models. </LI> </UL> </P>