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RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model

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Journal of Genetics and Genomics 2024年第12期51卷 1389-1403页

作者： Ji-Won Park tae-Ik Choi tae-yoon kim Yu-Ri Lee Dilan Wellalage Don Jaya K.George-Abraham Laurie A.Robak Cristina C.Trandafir Pengfei Liu Jill A.Rosenfeld tae Hyeong kim Florence Petit Yoo-Mi kim Chong Kun Cheon yoonsung Lee Cheol-Hee kim Department of Biology Chungnam National UniversityDaejeon 34134Republic of Korea Department of Pediatrics The University of Texas at Austin Dell Medical SchoolAustinTX 78723USA Department of Molecular and Human Genetics Baylor College of MedicineHoustonTX 77030USA Baylor Genetics Laboratories HoustonTX 77021USA Department of Pediatrics Kyung Hee University Hospital at GangdongSeoul 05278Republic of Korea Univ.Lille CHU LilleClinique de g en etique Guy FontaineF-59000 LilleFrance Department of Pediatrics Chungnam National University Sejong HospitalSejong 30099Republic of Korea Department of Pediatrics Pusan National University Children’s HospitalYangsan 50612Republic of Korea Research Institute for Convergence of Biomedical Science and Technology Pusan National University Yangsan HospitalYangsan 50612Republic of Korea Clinical Research Institute Kyung Hee University Hospital at GangdongSchool of MedicineKyung Hee UniversitySeoul 05278Republic of Korea

Williams syndrome(WS)is a rare multisystemic disorder caused by recurrent microdeletions on 7q11.23,characterized by intellectual disability,distinctive craniofacial and dental features,and cardiovascular *** studies have explored the roles of individual genes within these microdeletions in contributing to WS ***,we report five patients with WS with 1.4 Mb-1.5 Mb microdeletions that include RFC2,as well as one patient with a 167-kb microdeletion involving RFC2 and six patients with intragenic variants within *** investigate the potential involvement of RFC2 in WS pathogenicity,we generate a rfc2 knockout(KO)zebrafish using CRISPR-Cas9 ***,we generate a KO zebrafish of its paralog gene,rfc5,to better understand the functions of these RFC genes in development and *** rfc2 and rfc5 KO zebrafish exhibit similar phenotypes reminiscent of WS,including small head and brain,jaw and dental defects,and vascular ***-seq analysis reveals that genes associated with neural cell survival and differentiation are specifically affected in rfc2 KO *** addition,heterozygous rfc2 KO adult zebrafish demonstrate an anxiety-like behavior with increased social *** results suggest that RFC2 may contribute to the pathogenicity of WS,as evidenced by the zebrafish model.

关键词： Williams syndrome RFC2 RFC5 Zebrafish Knockout CRISPR-Cas9

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Developing Stable Cultivar through Microspore Mutagenesis in ×Brassicoraphanus koranhort, Inter-Generic Allopolyploid between Brassica rapaand Raphanus sativus

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American Journal of Plant Sciences 2017年第6期8卷 1345-1356页

作者： Soo-Seong Lee Byoung Ho Hwang tae yoon kim Jeongmin Yang Na Rae Han Jongkee kim Hyun Hee kim Hadassah Roa Belandres BioBreeding Institute Sillyeong-Ro 153 Daeduk Ansung Gyeonggi Korea Dept. of Integrative Plant Science Chung-Ang University Ansung Korea Plant Biotechnology Institute Department of Life Science Sahmyook University Seoul Korea

A stable progeny was developed through induced mutation, using microspore culture, of the hybrid (F1F1) produced by crossing a newly synthesized, unstable allopolyploid (F1) and a stable cultivar, BB#1(F1) in xBrassicoraphanus. An F1F1 plant was subjected to the induced mutation system established during production of BB#1. Morphological characteristics of the progeny such as color, and leaf number and length, differed from those of BB#1. The bolting time of the progeny in spring cropping was very late compared to BB#1, allowing it to be grown to an adult plant in spring. Genomic in situ hybridization analysis of pollen mother cells at prophase I identified 19 bivalents, 10 from Brassica rapa and 9 from Raphanus sativus. The glucoraphenin content was almost identical to that of BB#1. Two cultivars are available in the baemoochae crop now. These results indicate that induced mutation using microspore culture is a viable method of stabilizing intergeneric allopolyploids between B. rapa and R. sativus.

关键词： xBrassicoraphanus Intergeneric Hybrid Baemoochae Brassica rapa Raphanus sativus

Ultra‑Transparent and Multifunctional IZVO Mesh Electrodes for Next‑Generation Flexible Optoelectronics

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Nano-Micro Letters 2025年第1期17卷 293-309页

作者： Kiran A.Nirmal Tukaram D.Dongale Atul C.Khot Chenjie Yao Nahyun kim tae Geun kim School of Electrical Engineering Korea UniversityAnam‑ro 145Seongbuk‑guSeoulRepublic of Korea Computational Electronics and Nanoscience Research Laboratory School of Nanoscience and BiotechnologyShivaji UniversityKolhapur 416004India

Mechanically durable transparent electrodes are essential for achieving long-term stability in flexible optoelectronic ***,they are crucial for applications in the fields of energy,display,healthcare,and soft *** meshes represent a promising alternative to traditional,brittle,metal oxide conductors due to their high electrical conductivity,optical transparency,and enhanced mechanical *** this paper,we present a simple method for fabricating an ultra-transparent conducting metal oxide mesh electrode using selfcracking-assisted *** this method,we produced an electrode with ultra-transparency(97.39%),high conductance(Rs=21.24Ωsq^(−1)),elevated work function(5.16 eV),and good mechanical *** also evaluated the effectiveness of the fabricated electrodes by integrating them into organic photovoltaics,organic light-emitting diodes,and flexible transparent memristor devices for neuromorphic computing,resulting in exceptional device *** addition,the unique porous structure of the vanadium-doped indium zinc oxide mesh electrodes provided excellent flexibility,rendering them a promising option for application in flexible optoelectronics.

关键词： Self-cracking template Vanadium-doped indium zinc oxide mesh Organic solar cells Organic light-emitting diodes Flexible transparent memory

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Comprehensive molecular characterization to predict immunotherapy response in advanced biliary tract cancer:a phase II trial of pembrolizumab

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Oncology Research 2025年第1期33卷 57-65页

作者： RYUL kim JOO KYUNG PARK MINSUK KWON MINAE AN JUNG YONG HONG JOON OH PARK SUNG HEE LIM SEUNG tae kim Division of Hematology-Oncology Department of MedicineSamsung Medical CenterSungkyunkwan University School of MedicineSeoulKorea Division of Gastroenterology Department of MedicineSamsung Medical CenterSungkyunkwan University School of MedicineSeoulKorea Department of Hematology-Oncology Ajou University School of MedicineSuwon-siGyeonggi-doKorea Samsung Advanced Institute of Health Science and Technology Sungkyunkwan University School of MedicineSeoulKorea

Background:Immune checkpoint inhibitors(ICIs)are effective in a subset of patients with metastatic solid ***,the patients who would benefit most from ICIs in biliary tract cancer(BTC)are still *** and methods:We molecularly characterized tissues and blood from 32 patients with metastatic BTC treated with the ICI pembrolizumab as second-line ***:All patients had microsatellite stable(MSS)type *** of the 32 patients achieved partial response(PR),with an objective response rate(ORR)of 9.4%(95%confidence interval[CI],2.0–25.2)and nine showed stable disease(SD),exhibiting a disease control rate(DCR)of 37.5%(95%CI,21.1–56.3).For the 31 patients who had access to PD-1 ligand 1(PD-L1)combined positive score(CPS)testing(cut-off value≥1%),the ORR was not different between those who had PD-L1-positive(PD-L1+;1/11,9.1%)and PDL1-(2/20,10.0%)tumors(p=1.000).The tumor mutational burden(TMB)of PD-L1+BTC was comparable to that of PD-L1-BTC(p=0.630).TMB and any exonic somatic mutations were also not predictive of pembrolizumab *** analysis of blood and tumor samples demonstrated a relatively high natural killer(NK)cell proportion in the peripheral blood before pembrolizumab treatment in patients who achieved tumor ***,the tumors of these patients presented high enrichment scores for NK cells,antitumor cytokines,and Th1 signatures,and a low enrichment score for cancer-associated ***:This study shows the molecular characteristics associated with the efficacy of pembrolizumab in BTC of the MSS type.

关键词： Pembrolizumab Whole-exome sequencing Whole-transcriptome sequencing Biliary tract cancer

Machine learning empowers efficient design of ternary organic solar cells with PM6 donor

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Journal of Energy Chemistry 2025年第1期100卷 337-347页

作者： Kiran A.Nirmal Tukaram D.Dongale Santosh S.Sutar Atul C.Khot tae Geun kim School of Electrical Engineering Korea University Computational Electronics and Nanoscience Research Laboratory School of Nanoscience and Biotechnology Shivaji University Yashwantrao Chavan School of Rural Development Shivaji University

Organic solar cells(OSCs) hold great potential as a photovoltaic technology for practical ***, the traditional experimental trial-and-error method for designing and engineering OSCs can be complex, expensive, and time-consuming. Machine learning(ML) techniques enable the proficient extraction of information from datasets, allowing the development of realistic models that are capable of predicting the efficacy of materials with commendable accuracy. The PM6 donor has great potential for high-performance OSCs. However, it is crucial for the rational design of a ternary blend to accurately forecast the power conversion efficiency(PCE) of ternary OSCs(TOSCs) based on a PM6 ***, we collected the device parameters of PM6-based TOSCs and evaluated the feature importance of their molecule descriptors to develop predictive models. In this study, we used five different ML algorithms for analysis and prediction. For the analysis, the classification and regression tree provided different rules, heuristics, and patterns from the heterogeneous dataset. The random forest algorithm outperforms other prediction ML algorithms in predicting the output performance of PM6-based TOSCs. Finally, we validated the ML outcomes by fabricating PM6-based TOSCs. Our study presents a rapid strategy for assessing a high PCE while elucidating the substantial influence of diverse descriptors.

关键词： Random forests

Prominent cycling reversibility and kinetics enabled by CaTiO3 protective layer on Zn metal for aqueous Zn-ion batteries

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Journal of Energy Chemistry 2025年第1期100卷 245-258页

作者： Gaeun Lee Yong Nam Ahn Seongjoon So Chanwoo Park Jong-Seong Bae taehyun Park Il tae kim Jaehyun Hur School of Chemical Biological and Battery Engineering Gachon University Seongnam Busan Center Korea Basic Science Institute

Aqueous Zn-ion batteries （AZIBs） have received considerable attention owing to their various advantages such as safety,low cost,simple battery assembly conditions,and high ionic ***,they still suffer from serious problems,including uncontrollable dendrite growth,corrosion,hydrogen evolution reaction （HER） from water decomposition,electrode passivation,and unexpected *** creation of a uniform artificial nanocrystal layer on the Zn anode surface is a promising strategy for resolving these ***,we propose the use of a perovskite CaTiO3（CTO） protective layer on Zn（CTO@Zn） as a promising approach for improving the performance of *** CTO artificial layer provides an efficient pathway for Zn ion diffusion towards the Zn metal because of the high dielectric constant （εr=180） and ferroelectric characteristics that enable the alignment of dipole moments and redistribute the Zn2+ions in the CTO *** avoiding the direct contact of the Zn anode with the electrolyte solution,the uneven dendrite growth,corrosion,parasitic side reactions,and HER are mitigated,while CTO retains its mechanical and chemical robustness during ***,CTO@Zn demonstrates an improved lifespan in a symmetric cell configuration compared with bare ***@Zn shows steady overpotential （～68 m V） for 1500 h at 1 mA cm-2/0.5 mA h cm-2,excelling bare ***,when paired with the V2O5-C cathode,the CTO@Zn//V2O5-C full battery delivers 148.4 mA h g-1（based on the mass of the cathode） after 300 *** study provides new insights into Zn metal anodes and the development of high-performance AZIBs.

关键词： Perovskite

Optimization of an Artificial Intelligence Database and Camera Installation for Recognition of Risky Passenger Behavior in Railway Vehicles

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Computers, Materials & Continua 2025年第1期82卷 1277-1293页

作者： Min-kyeong kim Yeong Geol Lee Won-Hee Park Su-hwan Yun tae-Soon Kwon Duckhee Lee Railroad Test&Certification Division Korea Railroad Research Institute(KRRI)Cheoldo BangmulgwanroUiwang-si16105Republic of Korea Railroad Safety Division Korea Railroad Research Institute(KRRI)Cheoldo BangmulgwanroUiwang-si16105Republic of Korea

Urban railways are vital means of public transportation in *** than 30%of metropolitan residents use the railways,and this proportion is expected to *** enhance safety,the government has mandated the installation of closed-circuit televisions in all carriages by ***,cameras still monitored *** address this limitation,we developed a dataset of risk factors and a smart detection system that enables an immediate response to any abnormal behavior and intensive monitoring *** created an innovative learning dataset that takes into account seven unique risk factors specific to Korean railway *** data collection was conducted across the Shinbundang Line of the Incheon Transportation Corporation,and the Ui-Shinseol *** observed several behavioral characteristics and assigned unique annotations to *** also considered carriage *** performance was evaluated by camera placement and *** the camera installation plan was *** dataset will find immediate applications in domestic railway *** artificial intelligence algorithms will be verified shortly.

关键词： AI railway vehicle risk factor smart detection AI training data

Treatment of intractable orbital implant exposure with a large conjunctival defect by secondary insertion of the implant after preceding dermis fat graft

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International Journal of Ophthalmology(English edition) 2013年第2期6卷 193-197页

作者： Hyun Kyung kim tae yoon La Department of Ophthalmology St. Vincent's Hospital College of Medicine The Catholic University of Korea

AIM: To report a procedure and results of a two-stage operation to manage intractable extensive orbital implant exposure with a large conjunctival defect which was difficult to treat with dermis fat grafts due to repeated graft necrosis. METHODS: A retrospective chart review of four patients who had extensive orbital implant exposures with large conjunctival defects and had past histories of repeated autologous or preserved dermis graft failures was done. As a first-stage operation, the problematic pre-existing orbital implants were removed and autologous dermis fat grafts alone were performed on the defect area. Four months later, new orbital implants were secondarily inserted after confirmation of graft survival. The size of the conjunctival defects and state of the extraocular muscles were checked preoperatively. Success of the operations and complications were ***: The mean size of the conjuctival defects was 17.3mm×16.0mm, and the mean time from the initial diagnosis of orbital implant exposure to implant removal and autologous dermis fat graft was 20.8 months. After implant removal and autologous dermis fat graft, no graft necrosis was observed in any patients. Also, implant exposure or fornix shortening was not observed in any patients after new orbital implant insertion. CONCLUSION: The secondary insertion of a new orbital implant after pre-existing implant removal and preceding dermis fat graft is thought to be an another selective management of intractable orbital implant exposure in which dermis fat grafts persistently fail.

关键词： conjunctival defect dermis fat graft orbital implant exposure

Growth and Magnetic Properties of Sol-Gel Derived Co-Doped ZnO Thin Film

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Journal of Rare Earths 2006年第Z1期24卷 59-63页

作者： Young Sung kim Ki Chul kim Won Pil tae Dae Ho yoon tae Seok Park Su Jeong Suh Advanced Material Process of Information Technology Sungkyunkwan University Suwon 440-746 Korea Cambridge-ETRI Joint R&D Centre Electronics and Telecommunications Research Institute Daejeon 305-350 Korea Ulsan Industry Promotion Techno Park Ulsan 683-804 Korea Advanced Material Process of Information Technology Sungkyunkwan University Suwon 440-746 Korea Advanced Material Process of Information Technology Sungkyunkwan University Suwon 440-746 Korea Advanced Material Process of Information Technology Sungkyunkwan University Suwon 440-746 Korea

Zn1-xCoxO films were grown on glass by sol-gel spin coating process. A homogeneous and stable Zn1-xCoxO sol was prepared by dissolving zinc acetate dihydrate, cobalt acetate tetrahydrate and aluminium chloride hexahydrate as solutes in solution of isopropanol and monoethanolamine. The films were postheated and vacuum annealed, and investigated for c-axis preferred orientation and electromagnetic properties. Zn1-xCoxO films with different Co concentrations were oriented well along the c-axis, especially the Zn1-xCoxO film with 10% Co(atom fraction) was highly c-axis oriented. The transmittance spectra show that Zn1-xCoxO films occur d-d transition and sp-d exchange interaction between Co2+ ions. The electrical resistivity of the films at 10% Co had the lowest value because the crystallite size became largest and the crystallinity of the c-axis was improved. X-ray photoelectron spectroscopy and alternating gradient magnetometer analyses indicated that no Co metal cluster was formed, and the ferromagnetism at room temperature appeared. The characteristics of the electrical resistivity and room temperature ferromagnetism of sol-gel derived Zn1-xCoxO films suggest a potential application of dilute magnetic semiconductor devices.

关键词： sol-gel Zn1-xCoxO thin film dilute magnetic semiconductor (DMS)