检索结果-南通市图书馆

High Prevalence of Genetic Alterations in Infantile-Onset Cardiomyopathy

Congenital Heart Disease 2021年第4期16卷 397-410页

作者： Junsung Park go hun seo Yena Lee Yunha Choi Minji Kang Hyo-Sang Do Young-Hwue Kim Jeong Jin Yu Ellen Ai-Rhan Kim Euiseok Jung Byong Sop Lee Jae Suk Baek Beom Hee Lee Department of Pediatrics Asan Medical CenterUniversity of Ulsan College of MedicineSeoulKorea billion Inc.SeoulKorea Genome Research Center for Birth Defects and Genetic Diseases Asan Institute for Life SciencesAsan Medical CenterSeoulKorea Division of Cardiology Department of PediatricsAsan Medical CenterUniversity of Ulsan College of MedicineSeoulKorea Division of Neonatology Department of PediatricsAsan Medical CenterUniversity of Ulsan College of MedicineSeoulKorea Medical Genetics Center Asan Medical Center Children’s HospitalUniversity of Ulsan College of MedicineSeoulKorea

Background and Method:The genetic cause of infantile-onset cardiomyopathy is rarely ***,we conducted whole exome sequencing(WES)and mitochondrial DNA(mtDNA)sequencing in eight patients with infantile-onset cardiomyopathy to identify genetic ***:Among these patients,two(25%)had dilated cardiomyopathy(DCMP),two(25%)had left ventricular non-compaction(LVNC),and four(50%)had hypertrophic cardiomyopathy(HCMP).Except four patients identified prenatally,the remaining patients presented at a median age of 85.5 *** identified genetic variants in a total of seven(87.5%)patients and mtDNA sequencing in the other ***1 and MYH7 variants were identified in the two patients with DCMP;MYH11 and MYLK2 variants in the two patients with LVNC;HRAS,BRAF,and MYH7 variants in three patients with HCMP;and MT-ND1 variant in one patient with HCMP having high blood lactic acid *** the eight variants,four were classified as pathogenic or likely-pathogenic according to the American College of Medical Genetics(ACMG)guidelines,and the remaining were identified as variants of unknown significance(VUSs).Three pathogenic mutations were de novo,whereas four(likely-pathogenic or VUSs)were inherited from a respective parent,excluding one variant where parental testing was unavailable,questioning whether these inherited variants are *** patients died before 3 months of ***:Genomic studies,such as WES with additional mtDNA sequencing,can identify a genetic variant in high proportions of patients with infantile-onset *** clinical implication of the parentally inherited variant needs to be assessed in a larger patient and family cohort with a longitudinal follow-up.

关键词： Cardiomyopathy whole exome sequencing infantile-onset

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Factors Affecting the Genetic Diagnostic Rate in Congenital Heart Disease

引用

Congenital Heart Disease 2022年第6期17卷 653-673页

作者： Jun Sung Park go hun seo Yunha Choi Soojin Hwang Minji Kang Hyo-Sang Do Young-Hwue Kim Jeong Jin Yu Ellen Ai-Rhan Kim Euiseok Jung Byong Sop Lee Jae Suk Baek Beom Hee Lee Department of Pediatrics Asan Medical CenterUniversity of Ulsan College of MedicineSeoulKorea 3 Billion Inc.SeoulKorea Genome Research Center for Birth Defects and Genetic Diseases Asan Institute for Life SciencesAsan Medical CenterSeoulKorea Division of Cardiology Department of PediatricsAsan Medical CenterUniversity of Ulsan College of MedicineSeoulKorea Division of Neonatology Department of PediatricsAsan Medical CenterUniversity of Ulsan College of MedicineSeoulKorea Medical Genetics Center Asan Medical Center Children’s HospitalUniversity of Ulsan College of MedicineSeoulKorea

Background: Over 400 genes contribute to the development of congenital heart disease (CHD). Additionally,multisystemic manifestations accompanying syndromic CHD pose a higher risk of genetic diseases. This studyinvestigated the diagnostic yield of whole-exome sequencing (WES) in patients with sporadic syndromic CHDand the phenotypic factors affecting the genetic diagnostic rate. Methods: Sixty-four patients with sporadic syndromicCHD aged 0.05), betweenthe groups with and without a diagnostic variant. However, patients with ≥3 extracardiac phenotypes had a significantlyhigher likelihood of having a diagnostic variant than those with ≤2 (38.3% vs. 5.9%, odds ratio = 9.93,95% confidence interval = 1.21–81.44, P = 0.013). Conclusions: The number of extracardiac phenotypes is importantin predicting the possibility of genetic diagnosis. Physicians will be able to select patients with a high probabilityof genetic diagnosis and provide appropriate genetic counseling based on the results of this study.

关键词： Heart defects congenital whole-exome sequencing genetic testing phenotype

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Do brood parasitic Common Cuckoos develop brood patches during the breeding season?

引用

Avian Research 2024年第3期15卷 363-368页

作者： Jun-seo go Hae-Ni Kim Sue-Jeong Jin Myeong-Chan Cha Heesoo Lee Jin-Won Lee Korea Institute of Ornithology&Department of Biology Kyung Hee University02447SeoulRepublic of Korea Bird Research SaeZiP 12504YangpyeongRepublic of Korea

Many birds develop brood patches on their ventral apterium under hormonal regulation to effectively transmit body heat to eggs during *** developed patch has several characteristics,including de-feathering,vascularization,and ***,little is known about whether avian brood parasites that do not incubate their eggs exhibit brood patch development during the breeding *** this study,we measured the size of the ventral apterium in 114 Common Cuckoos(Cuculus canorus)captured in the field throughout the breeding season and examined the appearance of the ventral apterium to confirm the development of brood *** also examined whether morphological traits and various factors correlated with the size of the ventral apterium(sternal apterium and abdominal apterium)and how it changed during the breeding *** found no clear signs of brood patch development in Common Cuckoos captured throughout the breeding season,indicating that they likely did not develop brood patches on the ventral apterium during this *** also found that ventral apterium size was positively correlated with wing length and body *** addition,Common Cuckoos with newly growing feathers on the boundary of the ventral apterium with pteryla were frequently observed as seasons progressed to the *** conclusion,Common Cuckoos exhibit neither brood patch development nor the vestigial characteristics of ancestral brood patches,except for the growth of feathers on boundary the ventral *** studies examining brood patches across different groups of avian brood parasites are valuable for enhancing our understanding of the developmental and physiological adaptations of avian brood parasites.

关键词： Brood parasitism Brood patch Common Cuckoo Pterylosis Re-feathering Ventral apterium

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

RUFY4 deletion prevents pathological bone loss by blocking endo-lysosomal trafficking of osteoclasts

引用

Bone Research 2024年第2期12卷 407-420页

作者： Minhee Kim Jin Hee Park Miyeon go Nawon Lee Jeongin seo Hana Lee Doyong Kim Hyunil Ha Taesoo Kim Myeong seon Jeong Suree Kim Taesoo Kim Han Sung Kim Dongmin Kang Hyunbo Shim Soo Young Lee Department of Life Science Ewha Womans UniversitySeoul 03760South Korea The Research Center for Cellular Homeostasis Ewha Womans UniversitySeoul 03760South Korea Department of Biomedical Engineering Yonsei UniversityWonju 26493South Korea KM Convergence Research Division Korea Institute of Oriental MedicineDaejeon 34054South Korea Chuncheon Center Korea Basic Science InstituteChuncheon 24341South Korea Fluorescence Core Imaging Center and Bioimaging Data Curation Center Ewha Womans UniversitySeoul 03760South Korea Multitasking Macrophage Research Center Ewha Womans UniversitySeoul 03760South Korea

Mature osteoclasts degrade bone matrix by exocytosis of active proteases from secretory lysosomes through a ruffled ***,the molecular mechanisms underlying lysosomal trafficking and secretion in osteoclasts remain largely ***,we show with GeneChip analysis that RUN and FYVE domain-containing protein 4(RUFY4)is strongly upregulated during *** lacking Rufy4 exhibited a high trabecular bone mass phenotype with abnormalities in osteoclast function in ***,deleting Rufy4 did not affect osteoclast differentiation,but inhibited bone-resorbing activity due to disruption in the acidic maturation of secondary lysosomes,their trafficking to the membrane,and their secretion of cathepsin K into the extracellular ***,RUFY4 promotes late endosome-lysosome fusion by acting as an adaptor protein between Rab7 on late endosomes and LAMP2 on primary ***,Rufy4-deficient mice were highly protected from lipopolysaccharide-and ovariectomy-induced bone ***,RUFY4 plays as a new regulator in osteoclast activity by mediating endo-lysosomal trafficking and have a potential to be specific target for therapies against bone-loss diseases such as osteoporosis.

关键词： osteoclast inhibited traffic

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Organic X-Ray Image Sensors Using a Medium Bandgap Polymer Donor with Low Dark Current

引用

ENERGY & ENVIRONMENTAL MATERIALS 2024年第6期7卷 230-237页

作者： Ha, Jong-Woon Eom, Seung hun Cha, Bo Kyung Song, Seyeong Eun, Hyeong Ju Kim, Jong H. Park, Jong Mok Kim, Bongsoo Park, Byoungwook Ko, seo-Jin Yoon, Sung Cheol Lee, Changjin Jung, In Hwan Hwang, Do-Hoon Pusan Natl Univ Chem Inst Funct Mat Dept Chem Busan 46241 South Korea Korea Res Inst Chem Technol KRICT Div Adv Energy Mat Res Ctr Daejeon 34114 South Korea Korea Electrotechnol Res Inst KERI Electromed Device Res Ctr Ansan 15588 South Korea Ulsan Natl Inst Sci & Technol UNIST Grad Sch Carbon Neutral Sch Energy & Chem Engn Ulsan 44919 South Korea Ajou Univ Dept Mol Sci & Technol Suwon 16449 South Korea Korea Res Inst Chem Technol Res Ctr Adv Specialty Chem Ulsan 44412 South Korea Ulsan Natl Inst Sci & Technol UNIST Dept Chem Ulsan 44919 South Korea Hanyang Univ Dept Organ & Nano Engn Human Tech Convergence Program 222 Wangsimni Ro Seoul 04763 South Korea

The development of portable X-ray detectors is necessary for diagnosing fractures in unconscious patients in emergency situations. However, this is quite challenging because of the heavy weight of the scintillator and silicon photodetectors. The weight and thickness of X-ray detectors can be reduced by replacing the silicon layer with an organic photodetectors. This study presents a novel bithienopyrroledione-based polymer donor that exhibits excellent photodetection properties even in a thick photoactive layer (similar to 700 nm), owing to the symmetric backbone and highly soluble molecular structure of bithienopyrroledione. The ability of bithienopyrroledione-based polymer donor to strongly suppress the dark current density (J(d) similar to 10(-10) A cm(-2)) at a negative bias (-2.0 V) while maintaining high responsivity (R = 0.29 A W-1) even at a thickness of 700 nm results in a maximum shot-noise-limited specific detectivity of D-sh* = 2.18 x 10(13) Jones in the organic photodetectors. Printed organic photodetectors are developed by slot-die coating for use in X-ray detectors, which exhibit D-sh* = 2.73 x 10(12) Jones with clear rising (0.26 s) and falling (0.29 s) response times upon X-ray irradiation. Detection reliability is also proven by linear response of the X-ray detector, and the X-ray detection limit is 3 mA.

关键词： low dark current low detection limit organic photodetector printable X-ray DETECTORS PHOTOCONDUCTORS SENSITIVITY

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Reclosing scheme using synchronism checking for utilization of BESS in distribution system

引用

Journal of Modern Power Systems and Clean Energy 2018年第2期6卷 356-363页

作者： hun-Chul seo Sang-Bong RHEE School of IT Engineering Yonam Institute of Technology Department of Electrical Engineering Yeungnam University

This paper proposes a reclosing scheme using synchronism checking for utilization of battery energy storage system(BESS) in a distribution system. The algorithm disconnects the faulty phase and keeps the power supply from the BESS to the healthy phase. Synchronism checking between the main source side and the load side is applied to minimize the transients at the reclosing *** BESS at the faulty phase is reconnected after checking the successful reclosing. The distribution system including BESS and proposed reclosing scheme are modeled by the electromagnetic transients program(EMTP)/*** various simulations by varing the fault clearing time are conducted and the simulation results are ***, the relation between proposed reclosing scheme and reliability is discussed.

关键词： Distribution system Battery energy storage system(BESS) Reclosing Reliability Synchronism checking

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Progress in light-to-frequency conversion circuits based on low dimensional semiconductors

引用

Nano Research 2021年第9期14卷 2938-2964页

作者： Seung Gi seo Seung Yeob Kim Jinheon Jeong Sung hun Jin Department of Electronic Engineering Incheon National UniversityAcademy-ro 119Yeongsu-guIncheon 22012Republic of Korea

As the scaling down of Si devices in the range less than few nm has been expedited up to a physical limit of Si,low dimensional materials have been regarded as one of next generation *** a variety of applications,studies on photodetectors have been actively investigated with their novel optical properties as well as astonishing electrical ***,most of research has focused on single device-type photodetector(i.e.,photo-diode or photo-transistor).Contrary to common photodetector,light-to-frequency circuits(LFCs)are based on frequency reading with photosensitive ring oscillators,which has better noise immunity and reduced system complexity,thus,can be utilized to novel application even in internet of things(loT)and bio&medical *** this review,low dimensional materials based circuit level photodetectors,which are core elements as the form of either inverters or ring oscillators for demonstration of LFCs,are *** with the introduction of low dimensional materials and their optical properties for optoelectronics,a fundamental concept for LFCs is specifically ***,research progress on low dimensional material based photosensitive inverters is addressed according to the types of ***,as one of practical method for the improvement of photodetector performance,molecular doping technology is ***,complete system of LFCs and its digitization for demonstration of production level,and potential application in the respective four aspects,(i)medical SpO_(2) detection,(ii)biological fluidic system,(iii)auto-lighting in agriculture,and(iv)optical feedback and sensing systems,are presented as systematic way to address the envisioned practical applications for the future displays including virtual reality and augmented reality,and *** a remark,LFCs based on low dimensional semiconductors are expected to be one of core components in trillion’s sensor area.

关键词： photodetector light-to-frequency conversion circuit transition metal dichalcogenide carbon nanotube

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Reversible and controllable threshold voltage modulation for n-channel MoS2 and p-channel MoTe_(2 )field-effect transistors via multiple counter doping with ODTS/poly-L-lysine charge enhancers

引用

Nano Research 2021年第9期14卷 3214-3227页

作者： Seung Gi seo Jinheon Jeong Seung Yeob Kim Ajit Kumar Sung hun Jin Department of Electronic Engineering Incheon National UniversityAcademy-ro 119Yeongsu-guIncheon 22012Republic of Korea

Confronted by the inherent physical limitations in scaling down Si technology,transition metal dichalcogenides(TMDCs)as alternatives are being tremendously researched and paid attention ***,mature counter doping technology for TMDCs is still elusive,and thus,a controllable and reversible charge enhancer is adopted for acceptor(or donor)-like doping via octadecyltrichlorosilane(ODTS)(or poly-L-lysine(PLL))***,multiple counter doping for TMDC field-effect transistors(FETs),combined with a threshold voltage(V;h)freezing scheme,renders the V_(th) modulation controllable,with negligible degradation and decent sustainability of FETs even after each treatment of a representative charge *** parallel,the counter doping mechanism is systematically investigated via photoluminescence spectroscopy,X-ray photoelectron spectroscopy,atomic force microscopy(AFM),surface energy characterization,and measurement of optoelectronic properties under illumination with light of various *** impressively,complementary inverters,composed of type-converted molybdenum ditelluride(MoTe_(2)>FETs and hetero-TMDC FETs in enhancement mode,are demonstrated via respective ODTS/PLL ***,driving backplane application for micro-light-emitting diode(p-LED)displays and physical validation of a corresponding counter doping scheme even for flexible polyethylene terephthalate(PET)substrates could be leveraged to relieve daunting challenges in the application of nanoscale Si-based three-dimensional(3D)stacked systems,with potential adoption of ultralow power and monolithic optical interconnection technology.

关键词： transition metal dichalcogenides(TMDCs) counter doping charge enhancer field-effect transistors micro-light-emitting diode(m-LED)

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Structural Resistance of SRC Column-Steel Beam Joint Developed for Innovative Construction of Buildings

引用

Journal of Iron and Steel Research International 2011年第S1期18卷 924-928页

作者： seo Soo-yeon Yun Hyun-Do Kim Seung-hun Dept.of Architectural Engineering Chungju National UniversityChungjuKorea Dept.of Architectural Engineering Chungnam National UniversityDaejeonKorea Dept.of Architectural Engineering Hanbat National UniversityDaejeonKorea

This paper presents an experimental study investigating factors influencing the effective width of steel reinforced concrete (SRC) column-steel beam joints of building in order to calculate its resisting *** 1/2 scaled interior SRC column-steel beam joint specimens were made with considering parameters such as beam flange width,beam depth and SRC column *** directional increasing moment was applied to the joint by acting forces to each ends of beam and the structural behavior of joint was *** previous design method suggested by Deierlein was reviewed and a modified equation was proposed from the analysis of test *** result indicated that the equation to calculate the effective width in Deierlein’s design method didn’t consider effectively the influence caused by the variation of beam depth so that a modified equation was suggested and the validation of it was confirmed in this paper.

关键词： SRC column-steel beam joint effective width flange width beam depth

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

High-performance flexible BiCMOS electronics based on single-crystal Si nanomembrane

引用

npj Flexible Electronics 2017年第1期1卷 1-7页

作者： Jung-hun seo Kan Zhang Munho Kim Weidong Zhou Zhenqiang Ma Department of Electrical and Computer Engineering University of Wisconsin-MadisonMadisonWI 53706USA Department of Electrical Engineering University of Texas at ArlingtonArlingtonTX 76019USA Department of Materials Design and Innovation University at BuffaloThe State University of New YorkBuffaloNY 14260USA

In this work,we have demonstrated for the first time integrated flexible bipolar-complementary metal-oxide-semiconductor(BiCMOS)thin-film transistors(TFTs)based on a transferable single crystalline Si nanomembrane(Si NM)on a single piece of bendable plastic *** n-channel,p-channel metal-oxide semiconductor field-effect transistors(N-MOSFETs&P-MOSFETs),and NPN bipolar junction transistors(BJTs)were realized together on a 340-nm thick Si NM layer with minimized processing complexity at low cost for advanced flexible electronic *** fabrication process was simplified by thoughtfully arranging the sequence of necessary ion implantation steps with carefully selected energies,doses and anneal conditions,and by wisely combining some costly processing steps that are otherwise separately needed for all three types of *** types of TFTs demonstrated excellent DC and radio-frequency(RF)characteristics and exhibited stable transconductance and current gain under bending ***,Si NM-based flexible BiCMOS TFTs offer great promises for high-performance and multifunctional future flexible electronics applications and is expected to provide a much larger and more versatile platform to address a broader range of ***,the flexible BiCMOS process proposed and demonstrated here is compatible with commercial microfabrication technology,making its adaptation to future commercial use straightforward.

关键词： BiCMOS bipolar performance

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：