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Cytoplasmic domain and enzymatic activity of ACE2 are not required for PI4KB dependent endocytosis entry of SARS-CoV-2 into host cells

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Virologica Sinica 2022年第3期37卷 380-389页

作者： Hang Yang huijun yuan Xiaohui Zhao Meng Xun Shangrui Guo Nan Wang Bing Liu Hongliang Wang Department of Pathogen Biology and Immunology School of Basic Medical SciencesXi'an Jiaotong University Health Science CenterXi'an710061China School of Pharmacy Xi’an Jiaotong University Health Science CenterXi'an710061China BioBank The First Affiliated Hospital of Xi'an Jiaotong UniversityXi'an710061China Department of Life Sciences Faculty of Natural SciencesImperial College LondonLondonSW72AZUnited Kingdom Key Laboratory of Environment and Genes Related to Diseases Xi'an Jiaotong UniversityXi'an710061China

The recent COVID-19 pandemic poses a global health *** entry of the causative agent SARS-CoV-2 is mediated by its spike protein interacting with cellular receptor-human angiotensin converting enzyme 2(ACE2).Here,by using lentivirus based pseudotypes bearing spike protein,we demonstrated that entry of SARS-CoV-2 into host cells was dependent on clathrin-mediated endocytosis,and phosphoinositides played essential roles during this *** addition,we showed that the intracellular domain and the catalytic activity of ACE2 were not required for efficient virus ***,we showed that the current predominant Delta variant,although with high infectivity and high syncytium formation,also entered cells through clathrin-mediated *** results provide new insights into SARS-CoV-2 cellular entry and present proof of principle that targeting viral entry could be an effective way to treat different variant infections.

关键词： SARS-CoV-2 Endocytosis Phosphoinositides Angiotensin converting enzyme 2(ACE2) Syncytium

Identification of two novel missense WFS1 mutations,H696Y and R703H,in patients with non-syndromic low-frequency sensorineural hearing loss

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Journal of Genetics and Genomics 2011年第2期38卷 71-76页

作者： Yi Sun Jing Cheng Yanping Lu Jianzhong Li Yu Lu Zhanguo Jin Pu Dai Rongguang Wang huijun yuan Institute of Otolaryngology Chinese PLA General Hospital Beijing 100853 China Department of Otolaryngology Chinese PLA Wuhan General Hospital of Guangzhou Military Command Wuhan 430070 China Department of Obstetrics and Gynecology Chinese PLA General Hospital Beijing 100853 China Fuzhou General Hospital of Nanjing Military Command PLA Fuzhou 350025 China

Non-syndromic low-frequency sensorineural hearing loss （LFSNHL） is an unusual type of hearing loss in which frequencies ≤2000 Hz predominantly are affected. To date, different mutations in two genes, DIAPHI and WFSI, have been found to be associated with LFSNHL. Here, we report a five-generation Chinese family with postlingual and progressive LFSNHL. We mapped the disease locus to a 2.5 Mb region on chromosome 4p16 between markers SNP_A-2167174 and D4S431, overlapping with the DFNA6/14/38 locus. Sequencing of candidate gene revealed a heterozygous c.2086C〉T substitution in exon 8 of WFS1, leading to p.H696Y substitution at the C-terminus of Wolframin （WFS 1）. In addition, we performed mutational screening of WFS1 in 37 sporadic patients, 7--50 years of age, with LFSNHL. We detected a heterozygous c.2108G〉A substitution in exon 8 of WFSI, leading to p.R703H substitution in a patient. The H696 and R703 in WFS1 are highly conserved across species, including human, orangutan, rat, mouse, and frog （Xenopus）, Sequence analysis demonstrated the absence of c.2086C〉T or c.210gG〉A substitutions in the WFS1 genes among 200 unrelated control subjects of Chinese background, supporting the hypothesis that they represent causative mutations, and not rare polymorphisms. Our data provide additional molecular and clinical information for establishing a better genotype-phenotype correlation for LFSNHL.

关键词： DFNA6/14/38 WFS1 Mutation Low-frequency hearing loss

Exploring noncoding variants in genetic diseases:from detection to functional insights

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Journal of Genetics and Genomics 2024年第2期51卷 111-132页

作者： Ke Wu Fengxiao Bu Yang Wu Gen Zhang Xin Wang Shunmin He Mo-Fang Liu Runsheng Chen huijun yuan Institute of Rare Diseases West China Hospital of Sichuan UniversityChengduSichuan 610041China Key Laboratory of Systems Health Science of Zhejiang Province School of Life ScienceHangzhou Institute for Advanced StudyUniversity of Chinese Academy of SciencesHangzhouZhejiang 310024China Key Laboratory of RNA Biology Center for Big Data Research in HealthInstitute of BiophysicsChinese Academy of SciencesBeijing 100101China University of Chinese Academy of Sciences Beijing 100049China State Key Laboratory of Molecular Biology State Key Laboratory of Cell BiologyShanghai Key Laboratory of Molecular AndrologyShanghai Institute of Biochemistry and Cell BiologyCenter for Excellence in Molecular Cell ScienceChinese Academy of SciencesShanghai 200031China

Previous studies on genetic diseases predominantly focused on protein-coding variations, overlooking the vast noncoding regions in the human genome. The development of high-throughput sequencing technologies and functional genomics tools has enabled the systematic identification of functional noncoding variants. These variants can impact gene expression, regulation, and chromatin conformation, thereby contributing to disease pathogenesis. Understanding the mechanisms that underlie the impact of noncoding variants on genetic diseases is indispensable for the development of precisely targeted therapies and the implementation of personalized medicine strategies. The intricacies of noncoding regions introduce a multitude of challenges and research opportunities. In this review, we introduce a spectrum of noncoding variants involved in genetic diseases, along with research strategies and advanced technologies for their precise identification and in-depth understanding of the complexity of the noncoding genome. We will delve into the research challenges and propose potential solutions for unraveling the genetic basis of rare and complex diseases.

关键词： Noncoding variation Genetic disease Research approach Challenge

Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss

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Journal of Genetics and Genomics 2010年第12期37卷 787-793页

作者： Jianzhong Li Jing Cheng Yanping Lu Yu Lu Airing Chen YiSun Dongyang Kang Xin Zhang Pu Dai Dongyi Han huijun yuan Institute of Otolaryngology Chinese PLA General Hospital Beijing 100853 China Department of Otolaryngology Fuzhou General Hospital of Nanjing Command PLA Fuzhou 350025 China Department of Obstetrics and Gynecology General Hospital of PLA Beijing 100853 China

We present the clinical and genetic findings for a Chinese family with X-linked non-syndromic hearing loss in which the affected males showed congenital profound sensorineural hearing impairment. In two affected brothers, the computer tomography of temporal bone showed bilateral dilation of the internal auditory canal with fistulous communication between the lateral canal and the basal cochlear turn, which is consistent with the typical DFNX2 phenotype. A missense mutation （c.647G→A） in the POU3F4 gene caused a substitu- tion from glycine to glutamic acid at position 216 （p.G216E）, and this mutation was found to consistently cosegregate with the deafness phenotype in the family. The mutation resulted in the loss of function of the POU3F4 by decreasing the affinity between the protein and DNA, as shown in silico by the structural analysis. Prenatal diagnosis of pregnant proband of this family revealed the c.647G→A mutation in DNA extracted from the amniotic fluid surrounding the fetus. The appropriate use of genetic testing and prenatal diagnosis plays a key role in reducing the recurrence of genetic defects in high-risk families.

关键词： DFNX2 POU3F4 mutation prenatal diagnosis

Mitochondrial DNA A1555G mutation screening using a testing kit method and its significance in preventing aminoglycoside-related hearing loss

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Journal of Otology 2006年第1期1卷 61-64页

作者： LIU Xin DAI Pu HUANG Deliang yuan huijun LI Weiming YU Fei ZHANG Xin KANG Dongyang CAO Juyang YANG Weiyan HAN Dongyi JIN Zhengce GUAN Minxin Department of Otolaryngology Chinese PLA General HospitalBeijingChina Weihai Aomaier Gene Technological CO. LTD.WeihaiShandong 264200China. Division and Program in Human Genetics and Center for Hearing and Deafness Research Cincinnati Children’s Hospital Medical CenterCincinnatiOhioUSA

To report a new screening method for mitochondrial DNA 1555A→G mutation and the results of genotype analysis in 19 maternal inherited deafness pedigrees. Method Five hundred and forty-six non-syndromic neuro-sensory hearing loss patients were tested for 1555A→G mutation using a new compact testing kit, which allows clear distinction between wild type and 1555 A→G mutated mtDNAs. Results Nineteen subjects among the 546 patients (3.48%) were found to carry mtDNA A1555G mutation. The results were confirmed by sequencing in an ABI 3100 Avant sequencer. Conclusions Maternal inherited deafness families are a frequently seen in outpatient group. The detection of mtDNA 1555 A→G mutation with a low cost, ready to use detection kit is needed and suitable in China for large scale screening and preventive testing before usage of aminoglycoside antibiotics.

关键词： ototoxic deafness maternal pedigree gene mutation prevention

Identification of Genes Underlying Hereditary Nonsyndromic Hearing Loss among Chinese Population

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Identification of Genes Underlying Hereditary Nonsyndromic H...

CRISPR／Cas靶向编辑技术系统与耳聋动物模型的建立

2010中国青年遗传学家论坛

作者： huijun yuan Institute Of Otolaryngology,Chinese PLA General Hospital,Beijing 100853,China

Hereditary nonsyndromie hearing loss(NSHL) is extremely *** the past decade, remarkable progress has been made towards determining the deafness-causing *** date,over 139 loci have been mapped for NSHL,and 62 deafness genes from these loci have been *** the enormous research resources in China,we have identified several genes and mutations by linage

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中华耳科学杂志 2015年第1期13卷 171-175页

作者：段宏袁慧军解放军总医院耳鼻咽喉头颈外科耳鼻咽喉科研究所北京100853 内蒙古医科大学附属医院耳鼻咽喉头颈外科呼和浩特010059

CRISPR(Clustered regularly interspaced short palindromicrepeats)/Cas(CRISPR-associated)系统是新一代的靶向基因组编辑技术系统,其突出特征是Cas蛋白,其通过g RNA(guide RNA)的引导下对外源性的DNA进行靶向切割,从而为细菌入侵核酸提供了免疫力。由CRISPR/Cas系统介导的基因靶向修饰技术成功地应用于多种细菌及多种生物的基因组靶向修饰,对人类基因组DNA的靶向修饰也已经得到了证实,并且CRISPR/Cas系统与以往技术相比在很多方面显示出了的优点。CRISPR/Cas系统在遗传缺陷疾病动物模型的建立技术中已经占有重要地位,而各种类型基因修饰动物模型是目前内耳基因功能、聋病分子机制研究的最理想方法和必备条件。随着耳聋的遗传学研究不断深入,诊断水平的不断提高,对遗传性耳聋动物模型的需求也不断增多,CRISPR/Cas系统介导的基因组靶向修饰技术也会不断完善,该技术将在耳聋的遗传学研究和诊断治疗等多领域发挥更大作用。

关键词： CRISPR/Cas系统耳聋动物模型

基于有限元的固液两相射流冲刷磨损率数值研究

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真空科学与技术学报 2019年第1期39卷 82-85页

作者：原慧军张利军山西机电职业技术学院电气工程系长治046011 中信重工机械股份有限公司齿轮装备研究所洛阳471000

利用数值模拟方法研究了不锈钢受到固液两相射流冲蚀作用后发生的磨损过程,对不同粒径的试样进行了磨损率测试。结果表明:流体在喷嘴出口部位的速度约等于10 m/s,当流体与面板发生撞击后便会流向下游,在射流喷嘴口附件存在一个明显的压... 详细信息

利用数值模拟方法研究了不锈钢受到固液两相射流冲蚀作用后发生的磨损过程,对不同粒径的试样进行了磨损率测试。结果表明:流体在喷嘴出口部位的速度约等于10 m/s,当流体与面板发生撞击后便会流向下游,在射流喷嘴口附件存在一个明显的压力较高的滞止区域。下游区域磨损率明显高于上游区域,并且与圆心距离越远的地方冲刷磨损率也越大,之后逐渐降低。当流体与冲蚀壁面接触之后便会流向下游区域,对下游区域造成较大的冲蚀作用,使下游产生较大的冲刷磨损率。越靠近下游区域,冲蚀磨损率表现为先增大后降低的现象,越靠近上游磨损率越小。平均冲刷磨损率和射流速度呈指数关系。

关键词：固液两相射流磨损数值计算

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黏性阻尼隔振装置性能仿真及冲击实验

机械设计与研究 2024年第2期40卷 102-104,112页

作者：原慧军王雨川山西机电职业技术学院电气工程系山西长治046011 山西大同大学煤炭工程学院山西大同037009

为了提高隔振设备应对冲击的能力,开发了一种具有黏性阻尼器的隔振装置。黏性阻尼器受到外界冲击作用下趋势活塞运动,在孔缩效应趋势下形成的阻尼力使得冲击能量被耗散,进而实现隔振的目标。仿真分析结果表明:伴随阻尼孔尺寸的不断增加... 详细信息

为了提高隔振设备应对冲击的能力,开发了一种具有黏性阻尼器的隔振装置。黏性阻尼器受到外界冲击作用下趋势活塞运动,在孔缩效应趋势下形成的阻尼力使得冲击能量被耗散,进而实现隔振的目标。仿真分析结果表明:伴随阻尼孔尺寸的不断增加,阻尼力呈现逐渐减小趋势。当孔径尺寸从2 mm增加到3 mm时,阻尼力峰值急剧下降,体现出强烈变化特点。实验验证结果表明:伴随载荷提升,相对位移及加速度的误差都反映出单调增加的特征。在输入载荷低于60 g的条件下,仿真误差都在5%以下,仿真结果保持高度一致。该黏性阻尼器中减压阀能够避免出现阻尼力过大的问题,可以维持较强的性能,该研究为液压隔振装置理论研究奠定了良好的理论基础,可以拓宽到其它的减震领域。

关键词：隔振装置黏性阻尼器冲击减压阀