检索结果-南通市图书馆

A novel missense mutation in obscurin gene in a Chinese consanguineous family with left ventricular noncompaction

在线全文

学校读者我要写书评

暂无评论

Journal of Geriatric Cardiology 2022年第7期19卷 531-538页

作者： xue-Qi DONG Pei-Pei QIN Di ZHANG Qiong-Yu ZHANG Yi QU Lin ZHAO Yi-Ting LU Yu-Xiao HU chun-xue yang Xin-Chang LIU Ya-Xin LIU Xian-Liang ZHOU Department of Cardiology Fuwai HospitalNational Center for Cardiovascular DiseaseChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina Department of Obstetrics and Gynecology Peking Union Medical College HospitalBeijingChina

BACKGROUND Left ventricular noncompaction(LVNC) is an increasingly recognised cardiomyopathy of which a significant percentage are genetic in origin. The purpose of the present study was to identify potential pathogenic mutation leading to disease in a Chinese LVNC *** A 3-generation family affected by LVNC was recruited. Clinical assessments were performed on available family members, with clinical examination, ECG, echocardiography and cardiac MRI. The proband(Ⅰ-2), the proband’s daughter(Ⅱ-1, affected) and mother(Ⅲ-1, unaffected) were selected for WGS. Sanger sequencing were performed in all of the 4 surviving family *** Combined whole genome sequencing with linkage analysis identified a novel missense mutation in the giant protein obscurin(OBSCN NM_001098623, c.C19063T), as the only plausible disease-causing variant that segregates with disease among the four surviving individuals, with interrogation of the entire genome excluding other potential causes. This c.C19063T missense mutation resulted in p.R6355W in the encoded OBSCN protein. It affected a highly conserved residue in the C terminus of the obscurin-B-like isoform between the PH and STKc domains, which was predicted to affect the function of the protein by different bioinformatics *** Here we present clinical and genetic evidence implicating the novel R6355W missense mutation in obscurin as the cause of familial LVNC. This expands the spectrum of obscurin’s roles in cardiomyopathies. It furthermore highlights that rare obscurin missense variants, currently often ignored or left uninterpreted, should be considered to be relevant for cardiomyopathies and can be identified by the approach presented here. This study also provided new insights into the molecular basis of OBSCN mutation positive LVNC.

关键词： ventricular mother linkage

Electrical stress and acid orange 7 synergistically clear the blockage of electron flow in the methanogenesis of low-strength wastewater

在线全文

学校读者我要写书评

暂无评论

Environmental Science and Ecotechnology 2024年第4期20卷 291-299页

作者： Ze-Chong Guo Min-Hua Cui chun-xue yang Hong-Liang Dai Tong-Yi yang Lin-Zhi Zhai Yong Chen Wen-Zong Liu Ai-Jie Wang School of Environmental and Chemical Engineering Jiangsu University of Science and TechnologyZhenjiang212100China State Key Laboratory of Urban Water Resource and Environment School of EnvironmentHarbin Institute of TechnologyHarbin150090China Jiangsu Key Laboratory of Anaerobic Biotechnology Jiangnan UniversityWuxi214122China School of Civil and Environmental Engineering Harbin Institute of TechnologyShenzhen518055China School of Geography and Tourism Harbin UniversityHarbin150001China School of Environmental Science and Engineering Huazhong University of Science and TechnologyWuhan430074China

Energy recovery from low-strength wastewater through anaerobic methanogenesis is constrained by limited substrate *** development of efficient methanogenic communities is critical but *** we develop a strategy to acclimate methanogenic communities using conductive carrier(CC),electrical stress(ES),and Acid Orange 7(AO7)in a modified *** synergistic integration of CC,ES,and AO7 precipitated a remarkable 72-fold surge in methane production rate compared to the *** increase was attributed to an altered methanogenic community function,independent of the continuous presence of AO7 and ***7 acted as an external electron acceptor,accelerating acetogenesis from fermentation intermediates,restructuring the bacterial community,and enriching electroactive bacteria(EAB).Meanwhile,CC and ES orchestrated the assembly of the archaeal community and promoted electrotrophic methanogens,enhancing acetotrophic methanogenesis electron flow via a mechanism distinct from direct electrochemical *** collective application of CC,ES,and AO7 effectively mitigated electron flow impediments in low-strength wastewater methanogenesis,achieving an additional 34%electron recovery from the *** study proposes a new method of amending anaerobic digestion systems with conductive materials to advance wastewater treatment,sustainability,and energy self-sufficiency.

关键词： Methanogenesis Conductive carrier Electrical stress Acid orange 7 Electron transfer

Implication of a novel truncating mutation in titin as a cause of autosomal dominant left ventricular noncompaction

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

Journal of Geriatric Cardiology 2022年第4期19卷 301-314页

作者： xue-Qi DONG Di ZHANG Yi QU Yu-Xiao HU chun-xue yang Tao TIAN Nan XU Hai-Lun JIANG Li ZENG Peng-Yan XIA Ya-Xin LIU Rui LIU Xian-Liang ZHOU Department of Cardiology Fuwai HospitalNational Center for Cardiovascular DiseaseChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina Department of Echocardiography Fuwai HospitalNatio-nal Center for Cardiovascular DiseaseChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina Institute of Medicinal Biotechnology Chinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina State Key Laboratory of Membrane Biology Institute of ZoologyChinese Academy of ScienceBeijingChina

BACKGROUND Mutation in the titin gene(TTN)in left ventricular noncompaction(LVNC)has been reported with a highly heterogeneous prevalence,and the molecular mechanisms underlying the pathogenesis of TTN gene mutation are *** the present study,we identified a novel TTN mutation in a pedigree with LVNC and investigated the potential pathogenic mechanism by functional *** The whole-genome sequencing with linkage analysis was performed in a 3-generation family affected by autoso-mal dominant LVNC *** clustered regularly interspaced short palindromic repeats associated protein 9(CRISPR/Cas9)technology was used to establish novel truncating mutation in TTN in a rat cardiomyoblast H9C2 cell line in vitro,in which functional studies were carried out and characterized in comparison to its wild-type *** A novel truncating mutation TTN p.R2021X was identified as the only plausible disease-causing variant that segreg-ated with disease among the five surviving affected individuals,with an interrogation of the entire genome excluding other po-tential *** reverse transcription-polymerase chain reaction and cellular immunofluorescence supported a haplo-insufficient disease mechanism in titin truncation mutation *** functional studies suggested mitochondrial abnormities in the presence of mutation,including decreased oxygen consumption rate,reduced adenosine triphosphate produc-tion,impaired activity of electron translation chain,and abnormal mitochondrial structure on electron *** aut-ophagy under electron microscopy accompanied with activation of the Akt-mTORC1 signaling pathway was observed in TTN p.R2021X truncation mutation *** The TTN p.R2021X mutation has a function in the cause of a highly penetrant familial *** findings expand the spectrum of titin’s roles in cardiomyopathies and provide novel insight into the molecular basis of titin-tr

关键词： linkage mechanism impaired

Study on the treatment of eutrophic water with a new integrative apparatus for water purification

在线全文

学校读者我要写书评

暂无评论

Journal of Environmental Science and Engineering 2009年第7期3卷 6-10页

作者： WANG Li-ping xue chun-yang GUO Ying-qing CHEN Yi-zhong GAO Nai-yun School of Environmental and Safety Engineering Jiangsu Polytechnic University Changzhou 213164 China State Key Laboratory of Pollution Control and Resources Reuse Tonal University Shanghai 200092 China

This paper studied the treatment of the landscape river in ChangZhou Scientific and Educational Town by a new integrative apparatus for water purification, which used ozone pre-oxidation-moDified clay-ozone biological activated carbon integrated process. The results indicate that the effectiveness of the algal removal with mentioned integrated process is much higher and the apparatus can operate stably. When the turbidity, chemical oxygen demand （CODMn）, total nitrogen （TN）, total phosphorus （TP） and algae densities of the raw water are 29-38 NTU, 7.45-7.79 mg/L, 2.496-2.981 mag/L, 0.237-0.255 mg/L and 5.78-7.94×10^8 cells/L respectively, it can be reduced to 0.8-1.7 NTU, 1.69-2.84 rag/L, 0.579-0.692mg/L, 0.013-0.038 mg/L, 0.06-0.38×10^8 cells/L. The average removal rates of turbidity, CODMn, TN, TP and algae density can reach 96.4%, 71.5%, 76.8%, 92.0% and 96.9% respectively. The treated water can meet the requirements of class Ⅰ- Ⅱ in Environmental Quality Standard, for Surface Water.

关键词： integrative apparatus for water purification ozone preoxidation modified clay ozone biological activated carbon

Surface embedded binary Co-Cu hydroxy phosphate over surface of oxy/hydroxides for efficient nitrate reduction to ammonia

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

Nano Research 2025年第1期18卷 195-207页

作者： chun Zhu Yifei yang Yike Jing Zhen Zeng xuesong Yi Wei Sun Fei yang Key Laboratory of Agro-Forestry Environmental Processes and Ecological Regulation of Hainan Province School of Environmental Science and EngineeringHainan UniversityHaikou 570228China

Electrochemical nitrate reduction reaction(NO3RR)to ammonia is a promising approach to address excess Ncontamination in aqueous environment but suffers from a limited ammonia yield and selectivity due to the low concentration and sluggish *** work reports a three-dimensional porous electrode with binary Co_(2)Cu_(1)hydroxy phosphate embedded into the surface of Ni_(3)Co_(1)oxy/hydroxides(CoCu-PH@NiCo/Ni,“PH”means phosphate-hydroxide),which delivers a yield of 4.13 mg·h^(-1)·cm^(-2)with a high Faraday efficiency of 92.6%under a low nitrate concentration of 40 mM and provide an impressive *** embedded structure of the as-prepared catalyst exhibits unique metal coordination ligands and valence states different from the unitary *** electrochemical in situ infrared spectra and theoretical calculations revealed that the Co sites with the ability to dissociate water molecular to form adsorbed OH*can effectively provide the required protons for the deoxygenation and hydrogenation steps during NO3-conversion,thereby,effectively reducing the energy barrier of the key transition states in the NO3RR process to improve the intrinsic *** demonstrate that the rational design of binary components with the appropriate ability to activate water molecules as well as the threedimensional porous skeletal structure are expected to promote effectively the low-concentration nitrates conversion to ammonia.

关键词： nitrate reduction hydroxy phosphate surface embedded water dissociation active hydroxy adsorbed

Study on Blue-algae of Landscape Waters by Ultrasonic-modifiedclay Combined proess

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

Study on Blue-algae of Landscape Waters by Ultrasonic-modifi...

The 12th Asian Pacific Confederation of Chemical Engineering Congress

作者： Wang Li-Ping~* yang Xian-Cai Ding Fu-Sheng xue chun-yang Tu Bao-Hua School of Environmental & Salty Engineering,Jiangsu Polytechnic University,Changhou 213164 Jiangsu

Used the ultrasonic/modified day craft to study landscape waters of ChangZhou University City blue-green *** results show that in the raw water average concentration of turbidity, COD、TN、TP and the chlorophyll-a are... 详细信息

关键词： landscape waters blue algae ultrasonic modified clay chlorophyll-a

来源： cnki会议评论

在线全文

cnki会议

学校读者我要写书评

暂无评论

无竞争多点对话发言策略

计算机应用 2000年第3期20卷 15-17页

作者：薛春阳王让定宁波大学计算机与自动化科学与工程系浙江宁波315211

:网络应用需要多点投递和群组管理的支持。依据群组通信抽象模型 ,分析了多点对话的功能机制 ,提出了无竞争多点对话发言策略。

关键词：计算机网络群组通信多点对话运输层协议

Müller cells are activated in response to retinal outer nuclear layer degeneration in rats subjected to simulated weightlessness conditions

在线全文

学校读者我要写书评

暂无评论

Neural Regeneration Research 2025年第7期20卷 2116-2128页

作者： Yuxue Mu Ning Zhang Dongyu Wei Guoqing yang Lilingxuan Yao Xinyue Xu yang Li Junhui xue Zuoming Zhang Tao Chen Aerospace Clinical Medical Center School of Aerospace MedicineAir Force Medical UniversityXi’anShaanxi ProvinceChina Department of Aviation Medicine Xijing HospitalAir Force Medical UniversityXi’anShaanxi ProvinceChina Department of Emergency Medicine Wuhan No.1 HospitalWuhanHubei ProvinceChina Third Regiment School of Basic MedicineAir Force Medical UniversityXi’anShaanxi ProvinceChina Fourth Regiment School of Basic MedicineAir Force Medical UniversityXi’anShaanxi ProvinceChina

A microgravity environment has been shown to cause ocular damage and affect visual acuity,but the underlying mechanisms remain ***,we established an animal model of weightlessness via tail suspension to examine the pathological changes and molecular mechanisms of retinal damage under *** 4 weeks of tail suspension,there were no notable alterations in retinal function and morphology,while after 8 weeks of tail suspension,significant reductions in retinal function were observed,and the outer nuclear layer was thinner,with abundant apoptotic *** investigate the mechanism underlying the degenerative changes that occurred in the outer nuclear layer of the retina,proteomics was used to analyze differentially expressed proteins in rat retinas after 8 weeks of tail *** results showed that the expression levels of fibroblast growth factor 2(also known as basic fibroblast growth factor)and glial fibrillary acidic protein,which are closely related to Müller cell activation,were significantly *** addition,Müller cell regeneration and Müller cell gliosis were observed after 4 and 8 weeks,respectively,of simulated *** findings indicate that Müller cells play an important regulatory role in retinal outer nuclear layer degeneration during weightlessness.

关键词： glial fibrous acidic protein gliosis Müller cells nerve growth factor neural differentiation neurodegeneration proteomic retinal degeneration retinal outer nuclear layer simulated weightlessness

应激QTL座位22个微卫星标记与猪应激性状指标的关系

在线全文

学校读者我要写书评

暂无评论

遗传 2008年第11期30卷 1439-1447页

作者：王晓娜汪秀星赵茹茜薛春阳刘香陈杰南京农业大学动物科技学院南京210095 南京农业大学动物医学院农业部动物生理生化重点开放实验室南京210095

以皮特兰猪和二花脸猪为亲本建立的F2资源群体的52头猪进行2_h运输应激实验,将仔猪出生后第3、10和17 d的"Backtest"评分(BS3、BS10、BS17)以及运输后各个体的血浆应激和代谢相关激素水平Insulin、ACTH、Cortisol、T3和T4作为运输应激... 详细信息

以皮特兰猪和二花脸猪为亲本建立的F2资源群体的52头猪进行2_h运输应激实验,将仔猪出生后第3、10和17 d的"Backtest"评分(BS3、BS10、BS17)以及运输后各个体的血浆应激和代谢相关激素水平Insulin、ACTH、Cortisol、T3和T4作为运输应激性状指标。利用22个微卫星标记,对这些应激指标进行相关性分析。结果表明:各位点等位基因数为3～8个,杂合度为0.4155～0.7432,多态信息含量为0.3651～0.8150。方差分析显示:SW1808(P<0.01)和SW0320(P<0.05)对ACTH有显著影响;SW1303对Insulin、SW1092对Cortisol、SW0320对T3、S0101对T4以及SW2446对BS3影响达到显著水平(P<0.05);SW2446(P<0.01)、SW1816(P<0.05)和SW0092(P<0.05)对BS10有显著影响;SW2108、SW1816和SW1023对BS17有显著影响(P<0.05)。结果表明这11个微卫星标记对实验中的应激性状指标存在显著影响。

关键词：猪微卫星标记运输应激翻背测试应激性状相关分析