检索结果-南通市图书馆

Both gain-and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia

在线全文

学校读者我要写书评

暂无评论

Journal of Genetics and Genomics 2024年第8期51卷 801-810页

作者： Wan-Bing Sun Jing-Xin fu Yu-Lan Chen hong-fu Li Zhi-Ying Wu Dian-fu Chen Department of Medical Genetics and Center for Rare Diseases and Department of Neurologyand Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation in Second Affiliated HospitalZhejiang University School of MedicineHangzhouZhejiang 310009China Nanhu Brain-computer Interface Institute HangzhouZhejiang 314050China MOE Frontier Science Center for Brain Science and Brain-machine Integration School of Brain Science and Brain MedicineZhejiang UniversityHangzhouZhejiang 310012China

KCNA1 is the coding gene for Kv1.1 voltage-gated potassium-channelα*** variants of KCNA1 have been reported to manifest as paroxysmal kinesigenic dyskinesia(PKD),but the correlation between them remains unclear due to the phenotypic complexity of KCNA1 variants as well as the rarity of PKD *** the whole exome sequencing followed by Sanger sequencing,we screen for potential pathogenic KCNA1 variants in patients clinically diagnosed with paroxysmal movement disorders and identify three previously unreported missense variants of KCNA1 in three unrelated Chinese *** proband of one family(c.496G>A,p.A166T)manifests as episodic ataxia type 1,and the other two(c.877G>A,p.V293I and c.1112C>A,p.T371A)manifest as *** pathogenicity of these variants is confirmed by functional studies,suggesting that p.A166T and p.T371A cause a loss-of-function of the channel,while p.V293I leads to a gain-of-function with the property of voltage-dependent gating and activation kinetic *** reviewing the locations of PKD-manifested KCNA1 variants in Kv1.1 protein,we find that these variants tend to cluster around the pore domain,which is similar to ***,our study strengthens the correlation between KCNA1 variants and PKD and provides more information on genotype–phenotype correlations of KCNA1 channelopathy.

关键词： Paroxysmal kinesigenic dyskinesia KCNA1 Loss-of-function Gain-of-function Channelopathy Episodicataxiatype1

Paroxysmal Kinesigenic Dyskinesia:Genetics and Pathophysiological Mechanisms

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Neuroscience Bulletin 2024年第7期40卷 952-962页

作者： Jiao-Jiao Xu hong-fu Li Zhi-Ying Wu Department of Medical Genetics and Center for Rare Diseases The Second Affiliated HospitalZhejiang University School of MedicineHangzhou 310009China Department of Neurology in the Second Affiliated Hospital Key Laboratory of Medical Neurobiology of Zhejiang ProvinceZhejiang University School of MedicineHangzhou 310009China

Paroxysmal kinesigenic dyskinesia(PKD),the most common type of paroxysmal movement disorder,is characterized by sudden and brief attacks of choreoathetosis or dystonia triggered by sudden voluntary *** is mainly caused by mutations in the PRRT2 or TMEM151A *** exact pathophysiological mechanisms of PKD remain unclear,although the function of PRRT2 protein has been well characterized in the last *** on abnormal ion channels and disturbed synaptic transmission in the absence of PRRT2,PKD may be channelopathy or synaptopathy,or *** addition,the cerebellum is regarded as the key pathogenic *** depolarization in the cerebellum is tightly associated with dyskinetic ***,in PKD,other than the cerebellum,the role of the cerebrum including the cortex and thalamus needs to be further investigated.

关键词： Paroxysmal kinesigenic dyskinesia PRRT2 TMEM151A Genetics Pathophysiological mechanisms

Naturally Crosslinked Biocompatible Carbonaceous Liquid Metal Aqueous Ink Printing Wearable Electronics for Multi-Sensing and Energy Harvesting

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-Micro Letters 2024年第8期16卷 148-168页

作者： King Yan Chung Bingang Xu Di Tan Qingjun Yang Zihua Li hong fu Nanotechnology Center School of Fashion and TextilesThe Hong Kong Polytechnic UniversityHong Kong 999077People’s Republic of China Department of Mathematics and Information Technology The Education University of Hong KongHong KongPeople’s Republic of China

Achieving flexible electronics with comfort and durability comparable to traditional textiles is one of the ultimate pursuits of smart *** printing is desirable for e-textile development using a simple and inexpensive ***,fabricating high-performance atop textiles with good dispersity,stability,biocompatibility,and wearability for high-resolution,large-scale manufacturing,and practical applications has remained ***,waterbased multi-walled carbon nanotubes(MWCNTs)-decorated liquid metal(LM)inks are proposed with carbonaceous gallium–indium *** the assistance of biopolymers,the sodium alginate-encapsulated LM droplets contain high carboxyl groups which non-covalently crosslink with silk sericin-mediated MWCNTs.E-textile can be prepared subsequently via printing technique and natural waterproof triboelectric coating,enabling good flexibility,hydrophilicity,breathability,wearability,biocompatibility,conductivity,stability,and excellent versatility,without any artificial *** obtained e-textile can be used in various applications with designable patterns and ***-sensing applications of recognizing complex human motions,breathing,phonation,and pressure distribution are demonstrated with repeatable and reliable ***-powered and energy-harvesting capabilities are also presented by driving electronic devices and lighting *** proof of concept,this work provides new opportunities in a scalable and sustainable way to develop novel wearable electronics and smart clothing for future commercial applications.

关键词： Biocompatible Conductive ink Biopolymer E-textile Carbonaceous liquid metal

BLUPmrMLM:A Fast mrMLM Algorithm in Genome-wide Association Studies

在线全文

学校读者我要写书评

暂无评论

Genomics, Proteomics & Bioinformatics 2024年第3期22卷 55-67页

作者： hong-fu Li Jing-Tian Wang Qiong Zhao Yuan-Ming Zhang College of Plant Science and Technology Huazhong Agricultural UniversityWuhan 430070China

Multilocus genome-wide association study has become the state-of-the-art tool for dissecting the genetic architecture of complex and multiomic ***,most existing multilocus methods require relatively long computational time when analyzing large *** address this issue,in this study,we proposed a fast mrMLM method,namely,best linear unbiased prediction multilocus random-SNP-effect mixed linear model(BLUPmrMLM).First,genome-wide single-marker scanning in mrMLM was replaced by vectorized Wald tests based on the best linear unbiased prediction(BLUP)values of marker effects and their variances in ***,adaptive best subset selection(ABESS)was used to identify potentially associated markers on each chromosome to reduce computational time when estimating marker effects via empirical ***,shared memory and parallel computing schemes were used to reduce the computational *** simulation studies,BLUPmrMLM outperformed GEMMA,EMMAX,mrMLM,and FarmCPU as well as the control method(BLUPmrMLM with ABESS removed),in terms of computational time,power,accuracy for estimating quantitative trait nucleotide positions and effects,false positive rate,false discovery rate,false negative rate,and F1 *** the reanalysis of two large rice datasets,BLUPmrMLM significantly reduced the computational time and identified more previously reported genes,compared with the aforementioned *** study provides an excellent multilocus model method for the analysis of large-scale and multiomic *** software mrMLM v5.1 is available at BioCode(https://***/biocode/tool/BT007388)or GitHub(https://***/YuanmingZhang65/mrMLM).

关键词： Genome-wide association study BLUP Multilocus model mrMLM Large-scale dataset

Analysis of mechanical strengths of extreme line casing joint considering geometric, material, and contact nonlinearities

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Petroleum Science 2024年第3期21卷 1992-2004页

作者： Ji-Yun Zhang Chi Peng Jian-hong fu Quan Cao Yu Su Jian-Yun Pang Zi-Qiang Yu Petroleum Engineering School Southwest Petroleum UniversityChengdu610500SichuanChina Engineering Technology Research Institute of CNPC Southwest Oil and Gas Field Company Chengdu610017SichuanChina

To address the challenges associated with difficult casing running,limited annular space,and poor cementing quality in the completion of ultra-deep wells,the extreme line casing offers an effective solution over conventional ***,due to its smaller size,the joint strength of extreme line casing is reduced,which may cause failure when running in the *** address this issue,this study focuses on the CST-ZTΦ139.7 mm×7.72 mm extreme line casing and employs the elastic-plastic mechanics to establish a comprehensive analysis of the casing joint,taking into account the influence of geometric and material nonlinearities.A finite element model is developed to analyze the forces and deformations of the extreme line casing joint under axial tension and external collapse *** model investigates the stress distribution of each thread tooth subjected to various tensile forces and external ***,the tensile strength and crushing strength of the extreme line casing joint are determined through both analytical and experimental *** findings reveal that,under axial tensile load,the bearing surface of each thread tooth experiences uneven stress,with relatively high equivalent stress at the root of each thread *** end thread teeth are valuable spots for *** is observed that the critical fracture axial load of thread decreases linearly with the increase of thread tooth *** external pressure,the circumferential stress is highest at the small end of the external thread,leading to yield *** tensile strength of the joint obtained from the finite element model exhibits a relative error of less than 7%compared to the analytical and experimental values,proving the reliability of the finite element *** tensile strength of the joint is 3091.9 k ***,in terms of anti-collapse capability,the joints demonstrate higher resistance to collapse compared to the casing body,which is consistent with the test resul

关键词： Extreme line casing Elastic-plastic mechanics Finite element analysis Tensile strength Collapse strength

Artificial Water Channel Promoting Depolymerization of Actin Filaments to Trigger Cancer Cell Apoptosis

在线全文

学校读者我要写书评

暂无评论

Chinese Journal of Chemistry 2024年第12期42卷 1335-1340页

作者： Lei Zhang Yin-Gui Cao Ting Fan Jjiatong Zhao Yong-hong fu Qi Xiao Zhan-Ting Li Yunfeng Wang Bo Xiao Jun-Li Hou Department of Chemistry Fudan University220 Handan RoadShanghai 200433China State Key Laboratory of Silkworm Genome Biology Cllege of SericultureTextileand Biomass Sciences InstitutionSouthwest UniversityChongqing400715China ENT Institute and Otorhinolaryngology Department of Eye&ENT Hospital Fudan UniversityShanghai 200031 fudan International School 325 Guoquan RoadShanghai 200433China

Actin filaments play important physiological functions,which have become potential targets of antitumor *** chemicals to intervene their polymerization-depolymerization dynamics would generate new strategies for designing antitumor *** this report,an artificial water channel appending acetazolamide moiety,a ligand that can selectively bind to carbonic anhydrase IX,has been prepared.

关键词： Artificial water channel Actin depolymerization Cell apoptosis Nanostructures Molecular recognition Supramolecular chemistry

Vesicle fusion induced by zwitterionic amphiphilic channels

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Chinese Chemical Letters 2024年第1期35卷 264-266页

作者： Qingyu Huan Tao Lin Yong-hong fu Jun-Li Hou Department of Chemistry Fudan UniversityShanghai 200433China

A new strategy to induce vesicle fusion has been developed by employing pillar[5]arene derivatives that were channel-like and were prepared by appending side chains onto pillar[5]arenes *** channels feature with hydrophilic negatively and positively charged groups at both ends and hydrophobic Trp residues at the outer surface,which endows the channels with *** zwitterionic amphiphilic channels could spontaneously incorporate into the bilayer membranes of lipid vesicles to induce vesicle fusion driven by the electrostatic interactions between negatively charged and positively charged groups.

关键词： Vesicle fusion Pillararene Electrostatic interaction Lipid bilayers

伯仲胺基团修饰Fe_(3)O_(4)磁性材料的制备和性能表征

在线全文

学校读者我要写书评

暂无评论

复合材料学报 2024年第4期41卷 1977-1986页

作者：周书威傅红杨方福州海关技术中心福州350001 福州大学生物科学与工程学院福州350108

食品中的有机酸等内源性物质会干扰其中痕量残留物的检测,为消除此影响,以N-β-(氨乙基)-γ-氨丙基三甲氧基硅烷(KH792)为氨基化试剂,直接修饰酸化后的Fe_(3)O_(4)得到磁性吸附材料。经响应面试验优化得到KH792对酸化Fe_(3)O_(4)的最佳... 详细信息

食品中的有机酸等内源性物质会干扰其中痕量残留物的检测,为消除此影响,以N-β-(氨乙基)-γ-氨丙基三甲氧基硅烷(KH792)为氨基化试剂,直接修饰酸化后的Fe_(3)O_(4)得到磁性吸附材料。经响应面试验优化得到KH792对酸化Fe_(3)O_(4)的最佳修饰条件为温度82.5℃、pH=4.9,KH792添加量1.8 mL,在最佳条件下,KH792直接修饰的酸化Fe_(3)O_(4)对没食子酸吸附量为22.8 mg/g,比市售Fe_(3)O_(4)提高了188%,且具备快速固液分离的能力、良好的稳定性及分散性。通过BET、Zeta电位、FTIR和XPS对直接修饰的产物性能进行了表征,结果表明,KH792与Fe_(3)O_(4)表面羟基通过Fe−O−Si键结合,酸化提高了Fe_(3)O_(4)表面羟基含量,因此也增强了KH792对Fe_(3)O_(4)的修饰效果,本文制备的磁性产物可用于净化复杂样品基质中的有机酸。

关键词： N-β-(氨乙基)-γ-氨丙基三甲氧基硅烷酸化Fe_(3)O_(4) 直接修饰法磁性吸附材料修饰机制

Molecular mechanism of hypoxia and alpha-ketoglutaric acid on collagen expression in scleral fibroblasts

在线全文

学校读者我要写书评

暂无评论

International Journal of Ophthalmology(English edition) 2024年第10期17卷 1780-1790页

作者： Yun Sun Zhuo-Zheng Li Jing Yang Ya-Ru Sha Xin-Yu Hou hong fu Jia-Yin Li Shu-Chang Bai Yong-Fang Xie Guo-Hui Wang School of Life Science and Technology Shandong Second Medical UniversityWeifang 261053Shandong ProvinceChina

AIM:To investigate the molecular mechanisms underlying the influence of hypoxia and alpha-ketoglutaric acid(α-KG)on scleral collagen ***:Meta-analysis and clinical statistics were used to prove the changes in choroidal thickness(ChT)during *** establishment of a hypoxic myopia model(HYP)for rabbit scleral fibroblasts through hypoxic culture and the effects of hypoxia andα-KG on collagen expression were demonstrated by Sirius red *** analysis was used to verify the genes and pathways that hypoxia andα-KG affect collagen ***,real-time quantitative reverse transcription polymerase chain reaction(RT-qPCR)was used for reverse ***:Meta-analysis results aligned with clinical statistics,revealing a thinning of ChT,leading to scleral *** red staining indicated lower collagen expression in the HYP group and higher collagen expression in the HYP+α-KG group,showed that hypoxia reduced collagen expression in scleral fibroblasts,whileα-KG can elevated collagen expression under HYP *** analysis unveiled the related genes and signaling pathways of hypoxia andα-KG affect scleral collagen expression and the results were verified by ***:The potential molecular mechanisms through which hypoxia andα-KG influencing myopia is unraveled and three novel genes TLCD4,TBC1D4,and EPHX3 are *** findings provide a new perspective on the prevention and treatment of myopia via regulating collagen expression.

关键词： sclera scleral collagen expression hypoxia alpha-ketoglutaric acid myopia