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Clinical and genetic analysis of Ser341Pro MYOC variant in a Korean family with primary open angle glaucoma

International Journal of Ophthalmology(English edition) 2020年第11期13卷 1689-1696页

作者： sangwoo moon Namhee Kim Jiwoong Lee Department of Ophthalmology Pusan National University College of MedicineBusan 49241Republic of Korea Biomedical Research Institute Pusan National University HospitalBusan 49241Republic of Korea Department of Laboratory Medicine Dong A University College of MedicineBusan 49201Republic of Korea

AIM:To report the first discovery of Ser341Pro myocilin(MYOC)variant in Korea and analyze its clinical characteristics and genetic ***:Ten family members from three generations participated in this study and received the thorough ophthalmologic *** exome sequencing on a proband was performed to confirm the target mutations(MYOC c.1021T>C)in the family members,and the direct sequencing was *** was analyzed according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology(ACMG/AMP)***:A nucleotide change from thymine to cytosine at c.1021T>C was found in eight family *** members diagnosed with primary open angle glaucoma(POAG)were characterized by severe clinical presentations,high intraocular pressure,and poor response to medical treatment(100%of the patient required filtering surgery).On variant analysis by ACMG/AMP guidelines,Ser341Pro is not found in normal *** computational predictive programs support a deleterious effect of Ser341Pro variant(PoIyPhen 2,SIFT,Mutation Taster).Ser341Pro could be involved in moderate(PM)and supporting(PP)criteria(PM1,PM2,PP2,PP3).Combiningthe criteria,Ser341Pro has a combination of 2 moderate(PM1+PM2)and 2 supporting(PP2+PP3)criteria,which is interpreted to"likely pathogenic".CONCLUSION:The Ser341Pro variant is correlated with severe phenotype of *** are similar clinical aspects to previous studies:autosomal dominant inheritance,incomplete penetrance(62.50%and 66.67%),and proportion of patients requiring trabeculectomy(100%in both study).According to ACMG/AMP guidelines and the previous basic researches,the Ser341Pro variant had a"strong evidence of pathogenicity(PS3)"and then it could be interpreted to“pathogenic(PS3,PM1,PM2,PP2,PP3)”.Additionally,Ser341Pro variant can be reported as"c.1021T>C(***341Pro)",likely pathogenic,POAG,autosomal dominant”according to guideline.

关键词： Ser341Pro variant primary open angle glaucoma Korean

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Effects of monoglyceride blend on systemic and intestinal immune responses,and gut health of weaned pigs experimentally infected with a pathogenic Escherichia coli

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Journal of Animal Science and Biotechnology 2025年第1期16卷 345-363页

作者： sangwoo Park Shuhan Sun Lauren Kovanda Adebayo O.Sokale Adriana Barri Kwangwook Kim Xunde Li Yanhong Liu Department of Animal Science University of CaliforniaDavisCA 95616USA BASF Corporation Florham Park 07932USA BASF SE LampertheimGermany Department of Animal Science Michigan State UniversityEast LansingMI 48824USA School of Veterinary Medicine University of CaliforniaDavisCA 95616USA

Background Monoglycerides have emerged as a promising alternative to conventional practices due to their biolog-ical activities,including antimicrobial ***,few studies have assessed the efficacy of monoglyceride blend on weaned pigs and their impacts on performance,immune response,and gut health using a disease chal-lenge ***,this study aimed to investigate the effects of dietary monoglycerides of short-and medium-chain fatty acids on the immunity and gut health of weaned pigs experimentally infected with an enterotoxigenic Escherichia coli *** Pigs supplemented with high-dose zinc oxide(ZNO)had greater(P<0.05)growth performance than other treatments,but no difference was observed in average daily feed intake between ZNO and monoglycerides groups during the post-challenge *** in ZNO and antibiotic groups had lower(P<0.05)severity of diarrhea than control,but the severity of diarrhea was not different between antibiotic and monoglycerides *** fed with monoglycerides or ZNO had lower(P<0.05)serum haptoglobin on d 2 or 5 post-inoculation than *** in ZNO had greater(P<0.05)goblet cell numbers per villus,villus area and height,and villus height:crypt depth ratio(VH:CD)in duodenum on d 5 post-inoculation than pigs in other *** supplemented with monoglyc-erides,ZNO,or antibiotics had reduced(P<0.05)ileal crypt depth compared with control on d 5 post-inoculation,contributing to the increase(P=0.06)in VH:***,pigs in ZNO expressed the lowest(P<0.05)TNFa,IL6,IL10,IL12,IL1A,IL1B,and PTGS2 in ileal mucosa on d 5 post-inoculation,and no difference was observed in the expres-sion of those genes between ZNO and *** of ZNO and antibiotic had significant impacts on metabolic pathways in the serum compared with control,particularly on carbohydrate and amino acid metabolism,while limited impacts on serum metabolites were observed in monoglycerides group when compared with cont

关键词： Diarrhea Enterotoxigenic Escherichia coli Gut health Monoglycerides Systemic immunity Weaned pigs

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Exploring the mechanistic role of epidermal growth factor receptor activation in non-cancer kidney disease

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BIOCELL 2025年第1期49卷 79-92页

作者： JU-YEON LEE DAEUN moon JINU KIM Medical Course College of MedicineCatholic Kwandong UniversityGangneung25601Republic of Kore Department of Anatomy College of MedicineJeju National UniversityJeju63243Republic of Korea Interdisciplinary Graduate Program in Advanced Convergence Technology&Science Jeju National UniversityJeju63243Republic of Korea

The epidermal growth factor receptor(EGFR)is a transmembrane glycoprotein that plays a crucial role in signal transduction and cellular *** review explores the function of EGFR in kidney physiology and its implications for various kidney *** signaling is essential for kidney function and repair mechanisms,and its dysregulation significantly impacts both acute and chronic kidney *** review discusses the normal distribution of EGFR in kidney tubular segments,the mechanism of its activation and inhibition,and the therapeutic potential of EGFR-targeting antagonists and ***,it explores the pathophysiological characteristics observed in rodent models of kidney diseases through pharmacological and genetic inhibition of EGFR,highlighting therapeutic challenges and limitations such as species differences,variability in disease models,and potential adverse ***,the findings underscore the multifaceted role of EGFR in kidney diseases,influencing inflammation,fibrosis,and tissue *** complex involvement suggests that targeting EGFR may be a beneficial therapeutic strategy for managing these conditions,potentially mitigating inflammation and fibrosis while promoting tissue repair.

关键词： Epidermal growth factor receptor Chronic kidney disease Acute kidney injury Tubulointerstitial fibrosis

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Enhancement of motor functional recovery in thoracic spinal cord injury: voluntary wheel running versus forced treadmill exercise

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Neural Regeneration Research 2025年第3期20卷 836-844页

作者： Do-Hun Lee Dan Cao Younghye moon Chen Chen Nai-Kui Liu Xiao-Ming Xu Wei Wu Spinal Cord and Brain Injury Research Group Stark Neurosciences Research InstituteIndiana University School of MedicineIndianapolisINUSA Department of Neurological Surgery Indiana University School of MedicineIndianapolisINUSA Department of Neuroscience Baylor College of MedicineHoustonTXUSA

Spinal cord injury necessitates effective rehabilitation strategies, with exercise therapies showing promise in promoting recovery. This study investigated the impact of rehabilitation exercise on functional recovery and morphological changes following thoracic contusive spinal cord injury. After a 7-day recovery period after spinal cord injury, mice were assigned to either a trained group(10 weeks of voluntary running wheel or forced treadmill exercise) or an untrained group. Bi-weekly assessments revealed that the exercise-trained group, particularly the voluntary wheel exercise subgroup, displayed significantly improved locomotor recovery, more plasticity of dopaminergic and serotonin modulation compared with the untrained group. Additionally, exercise interventions led to gait pattern restoration and enhanced transcranial magnetic motor-evoked potentials. Despite consistent injury areas across groups, exercise training promoted terminal innervation of descending axons. In summary, voluntary wheel exercise shows promise for enhancing outcomes after thoracic contusive spinal cord injury, emphasizing the role of exercise modality in promoting recovery and morphological changes in spinal cord injuries. Our findings will influence future strategies for rehabilitation exercises, restoring functional movement after spinal cord injury.

关键词： behavioral assessment motor function neural plasticity running wheel exercise spinal cord injury treadmill exercise voluntary exercise

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Sodium butyrate prevents radiation-induced cognitive impairment by restoring pCREB/BDNF expression

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Neural Regeneration Research 2019年第9期14卷 1530-1535页

作者： Hae June Lee Yeonghoon Son Minyoung Lee Changjong moon Sung Ho Kim In Sik Shin Miyoung Yang sangwoo Bae Joong Sun Kim Division of Basic Radiation Bioscience Korea Institute of Radiological&Medical Sciences(KIRMAS)SeoulRepublic of Korea National Primate Research Center Korea Research Institute of Bioscience and Biotechnology(KRIBB)CheongjuRepublic of Korea College of Pharmacy Kyungpook National UniversityDaeguRepublic of Korea College of Veterinary Medicine Veterinary Medical Research InstituteChonnam National UniversityGwangjuRepublic of Korea School of Medicine Wonkwang UniversityJeonbukRepublic of Korea Research Center Dongnam Institute of Radiological&Medical Sciences(DIRAMS)BusanRepublic of Korea

Sodium butyrate is a histone deacetylase inhibitor that affects various types of brain *** investigate the effects of sodium butyrate on hippocampal dysfunction that occurs after whole-brain irradiation in animal models and the effect of sodium butyrate on radiation exposure-induced cognitive impairments,adult C57BL/6 mice were intraperitoneally treated with 0.6 g/kg sodium butyrate before exposure to 10 Gy cranial *** impairment in adult C57BL/6 mice was evaluated via an object recognition test 30 days after *** also detected the expression levels of neurogenic cell markers(doublecortin)and phosphorylated cAMP response element binding protein/brain-derived neurotrophic ***-exposed mice had decreased cognitive function and hippocampal doublecortin and phosphorylated cAMP response element binding protein/brain-derived neurotrophic factor *** butyrate pretreatment reversed these *** findings suggest that sodium butyrate can improve radiation-induced cognitive dysfunction through inhibiting the decrease in hippocampal phosphorylated cAMP response element binding protein/brain-derived neurotrophic factor *** study procedures were approved by the Institutional Animal Care and Use Committee of Korea Institute of Radiological Medical Sciences(approval ***16-0002)on December 30,2016.

关键词： sodium butyrate radioprotector ionizing radiation hippocampal damage cAMP response element binding brain-derived neurotrophic factor histone deacetylase inhibitor neurogenesis

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Boosting efficiency in state estimation of power systems by leveraging attention mechanism

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Energy and AI 2024年第2期16卷 438-449页

作者： Elson Cibaku Fernando Gama sangwoo Park Industrial Engineering New Jersey Institute of TechnologyNewarkNJUnited States Pendulum Systems DenverCOUnited States

Ensuring stability and reliability in power systems requires accurate state estimation, which is challenging due to the growing network size, noisy measurements, and nonlinear power-flow equations. In this paper, we introduce the Graph Attention Estimation Network (GAEN) model to tackle power system state estimation (PSSE) by capitalizing on the inherent graph structure of power grids. This approach facilitates efficient information exchange among interconnected buses, yielding a distributed, computationally efficient architecture that is also resilient to cyber-attacks. We develop a thorough approach by utilizing Graph Convolutional Neural Networks (GCNNs) and attention mechanism in PSSE based on Supervisory Control and Data Acquisition (SCADA) and Phasor Measurement Unit (PMU) measurements, addressing the limitations of previous learning architectures. In accordance with the empirical results obtained from the experiments, the proposed method demonstrates superior performance and scalability compared to existing techniques. Furthermore, the amalgamation of local topological configurations with nodal-level data yields a heightened efficacy in the domain of state estimation. This work marks a significant achievement in the design of advanced learning architectures in PSSE, contributing and fostering the development of more reliable and secure power system operations.

关键词： Power grids State estimation Attention mechanism Graph neural networks Distributed computation Grid cyber-security

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Weapon effectiveness and the shapes of damage functions

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Defence Technology（防务技术） 2021年第2期17卷 617-632页

作者： Sei-Hoon moon th R&D Institute Agency for Defense DevelopmentYusungDaejeon305-152Republic of Korea Department of Mechanical and Aerospace Engineering Naval Postgraduate School MontereyCA93940USA

This paper provides a review of methods of assessing a fragmentation weapon’s effectiveness against a point target or an area target with keeping the focus on the necessity of using the Carleton damage function with the correct shape ***,cookie-cutter damage functions are redefined to preserve the shape factor of and to have the same lethal area as the corresponding Carleton damage ***,closed-form solutions of the effectiveness methods are obtained by using those cookie-cutter damage functions and the Carleton damage ***,the closed-form solutions are applied to calculate the probability of damaging a point target and the expected fractional damage to an area target for several attack scenarios by using cookie-cutter damage functions and the Carleton damage functions with different shape *** comparison of the calculation results shows that using cookie-cutter damage functions or the Carleton damage function with a wrong shape factor results in quite significant differences from using the original Carleton damage function with a correct shape factor when weapon’s delivery error deviations are less than or comparable to the lengths of the lethal area and the aim point is far from a *** effectiveness methods improved in this paper will be useful for mission planning utilizing the precision-guided munitions in circumstances where the collateral damage should be reduced.

关键词： Weapon effectiveness Point target Area target Cookie-cutter damage function Carleton damage function

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Characterization of particulate matter from diesel passenger cars tested on chassis dynamometers

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Journal of Environmental Sciences 2017年第4期29卷 21-32页

作者： Sungwoon Jung Jaehyun Lim Sangil Kwon sangwoo Jeon Jeongsoo Kim Jongtae Lee Sunmoon Kim Transportation Pollution Research Center National Institute of Environmental Research Incheon Republic of Korea Division of Global Environment Research National Institute of Environmental Research Incheon Republic of Korea Compliance & Defects Investigation Office Korea Automobile Testing & Research Institute Hwasung Republic of Korea

Emission characterization of particle number as well as particle mass from three diesel passenger cars equipped with diesel particulate filter（DPF）, diesel oxidation catalyst（DOC）and exhaust gas recirculation（EGR） under the vehicle driving cycles and regulatory *** particle number emissions（PNEs） decreased gradually during speed-up of vehicle from 17.3 to 97.3 km/hr. As the average vehicle speed increases, the size-segregated peak of particle number concentration shifts to smaller size ranges of particles. The correlation analysis with various particulate components such as particle number concentration（PNC）,ultrafine particle number concentration（UFPNC） and particulate matter（PM） mass was conducted to compare gaseous compounds（CO, CO2, HC and NOx）. The UFPNC and PM were not only emitted highly in Seoul during severe traffic jam conditions, but also have good correlation with hydrocarbons and NOxinfluencing high potential on secondary aerosol generation. The effect of the dilution temperature on total PNC under the New European Driving Cycle（NEDC）, was slightly higher than the dilution ratio. In addition, the nuclei mode（DP： ≤ 13 nm） was confirmed to be more sensitive to the dilution temperature rather than other particle size ranges. Comparison with particle composition between vehicle speed cycles and regulatory cycle showed that sulfate was slightly increased at regulatory cycle, while other components were relatively similar. During cold start test, semivolatile nucleation particles were increased due to effect of cold environment. Research on particle formation dependent on dilution conditions of diesel passenger cars under the NEDC is important to verify impact on vehicular traffic and secondary aerosol formation in Seoul.

关键词： Diesel passenger cars Particle number emissions Correlation analysis Particle number concentration Ultrafine particle number concentration

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Mineralogical characteristics of bentonites occurring in Ningcheng and Jianping area,China

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Science China Earth Sciences 2010年第4期53卷 541-549页

作者： GU JaRang moon YongHee moon HiSoo Department of Earth System Sciences Yonsei University Institute of Earth Atmosphere Astronomy BK21 Yonsei University

This study is focused on the basic mineralogical and chemical characteristics of some selected samples from Jianping(JP) and Ningcheng(NC) area,*** were studied using X-ray diffraction(XRD),expandability,Greene-Kelly test,specific surface area,cation exchange capacity(CEC),differential thermal analysis(DTA),and chemical *** bulk samples consist of mainly montmorillonites along with appreciable amounts of cristobalite and with small amounts of quartz,feldspar and *** basal spacings of montmorillonites in all these examined samples show at about 1.5 nm,indicating that pre-dominant cations were *** crystallite thickness of the present sample lies from 0.449 to 0.710 nm(4.58-7.24 layers).As Greene-Kelly test,samples from Ningcheng area confirmed appreciable amount of beidellite component but samples from Jianping area did not contain anything about *** area of samples varies from 671 to 766 m2 g-1 depending on the amounts of *** CEC ranges from 70.30 to 82.75 meq 100g-1 in <2 μm size *** DTA curves are considered abnormal *** from Ningcheng area show relatively higher amount of SiO2 than those from Jianping area,possibly due to difference of parent rock *** element(Y,Nb,Ce and Zr) data are plotted on acidic to intermediate *** is apparent that no large chemical transfer would have been necessary during alteration.

关键词： montmorillonite beidellite expandability Greene-Kelly test trace element

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Faraday rotations,ellipticity,and circular dichroism in magneto-optical spectrum of moire superlattices

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Chinese Physics B 2021年第7期30卷 18-32页

作者： J A Crosse Pilkyung moon Arts and Sciences New York University ShanghaiShanghai 200122China NYU-ECNU Institute of Physics at NYU Shanghai Shanghai 200062China Department of Physics New York UniversityNew York 10003USA

We study the magneto-optical conductivity of a number of van der Waals heterostructures,namely,twisted bilayer graphene,AB–AB and AB–BA stacked twisted double bilayer graphene and monolayer graphene and AB-stacked bilayer graphene on hexagonal boron *** the magnetic field increases,the absorption spectrum exhibits a self-similar recursive pattern reflecting the fractal nature of the energy *** twisted bilayer graphene displays only weak circular dichroism,the other four structures display strong circular dichroism with monolayer graphene and AB-stacked bilayer graphene on hexagonal boron nitride being particularly pronounced owing to strong inversion symmetry breaking properties of the hexagonal boron nitride *** the left and right circularly polarized light interact with these structures differently,plane-polarized incident light undergoes a Faraday rotation and gains an ellipticity when *** size of the respective angles is on the order of a degree.

关键词： 2D-materials van der Waals heterostructures magneto-optical conductivity graphene

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