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Identification of a novel MYO1D variant associated with laterality defects,congenital heart diseases,and sperm defects in humans

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Frontiers of Medicine 2024年第3期18卷 558-564页

作者： Zhuangzhuang Yuan Xin Zhu Xiaohui Xie Chenyu Wang Heng Gu Junlin Yang Liangliang Fan Rong Xiang Yifeng Yang zhiping tan Department of Cardiovascular Surgery The Second Xiangya Hospital of Central South UniversityChangsha410011China Clinical Center for Gene Diagnosis and Therapy The Second Xiangya Hospital of Central South UniversityChangsha410011China Department of Cell Biology School of Life SciencesCentral South UniversityChangsha410013China Department of Gynecology and Obstetrics Xiangya Hospital of Central South UniversityChangsha410008China

The establishment of left–right asymmetry is a fundamental process in animal *** with this process leads to a range of disorders collectively known as laterality defects,which manifest as abnormal arrangements of visceral *** patients with laterality defects,congenital heart diseases(CHD)are *** multiple model organisms,extant research has established that myosin-Id(MYO1D)deficiency causes laterality *** study investigated over a hundred cases and identified a novel biallelic variant of MYO1D(NM_015194:c.1531G>A;p.D511N)in a consanguineous family with complex CHD and laterality *** examination of the proband revealed asthenoteratozoospermia and shortened ***,the effects of the D511N variant and another known MYO1D variant(NM_015194:c.2293C>T;p.P765S)were *** assessment showed that both enhance the interaction withβ-actin and ***,this study revealed the genetic heterogeneity of this rare disease and found that MYO1D variants are correlated with laterality defects and CHD in ***,this research established a connection between sperm defects and MYO1D *** offers guidance for exploring infertility and reproductive health *** findings provide a critical basis for advancing personalized medicine and genetic counseling.

关键词： MYO1D laterality defect congenital heart disease sperm defect β-actin SPAG6

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A novel mutation of glycogen synthase kinase-3β leads to a reduced level of GSK3βprotein in a patient with dilated cardiomyopathy

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Genes & Diseases 2024年第1期11卷 84-86页

作者： Ke Gong zhiping tan Haidan Liu Xiaobo Liao Xinmin Zhou Bangliang Yin Shi Zeng Yao Yao Yifeng Yang Li Xie Department of Cardiovascular Surgery The Second Xiangya Hospital of Central South UniversityCentral South UniversityChangshaHunan410011China Department of Ultrasound The Second Xiangya Hospital of Central South UniversityCentral South UniversityChangshaHunan 410011China Department of Blood Transfusion The Second Xiangya Hospital of Central South UniversityCentral South UniversityChangshaHunan 410011China

Dilated cardiomyopathy(DCM)is a frequently inherited heart condition.A familial transmission rate of 20%-35%has been documented,and most of these cases are autosomal *** condition has a high rate of morbidity and mort... 详细信息

关键词： GSK3β cardiomyopathy mortality

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Improvements to the retractor and muscle flap design for minimally invasive cochlear implantation

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Journal of Otology 2020年第1期15卷 41-44页

作者： Riyuan Liu zhiping tan Jianan Li Yan Yan Wei Ren Miao Zhang Shiming Yang Hui Zhao Department of Otolaryngology Head and Neck Surgery Institute of OtolaryngologyChinese PLA General HospitalChina National Clinical Research Center for Otolaryngologic DiseasesBeijing100853China Zhejiang Nurotron Biotechnology Company Limited HangzhouZhejiang311121China

Objective: The aim of this study was to improve muscle flaps and to evaluate surgical outcomes with the use of a novel specialized retractor, which is a surgical instrument used to locate and shape a bony seat for minimally invasive cochlear ***: 50 patients aged 1 e75 years with sensorineural hearing loss who required cochlear implantation were recruited. A small incision(tandardized the surgical processes of cochlear implantation. The retractor helped locate and control the size of the bony well during bone drilling. The tool reduced the technical difficulty and improved the efficacy of this minimally invasive operation.

关键词： Minimally invasive surgery Cochlear implantation Retractor Muscle flap

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Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice

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Frontiers of Medicine 2023年第5期17卷 957-971页

作者： Rongchun Wang Danhui Yang Chaofeng Tu Cheng Lei Shuizi Ding Ting Guo Lin Wang Ying Liu Chenyang Lu Binyi Yang Shi Ouyang Ke Gong zhiping tan Yun Deng Yueqiu tan Jie Qing Hong Luo Department of Pulmonary and Critical Care Medicine The Second Xiangya Hospital of Central South UniversityChangsha410011China Research Unit of Respiratory Disease Central South UniversityChangsha410011China Hunan Diagnosis and Treatment Center of Respiratory Disease Changsha410011China Institute of Reproductive and Stem Cell Engineering NHC Key Laboratory of Human Stem Cell and Reproductive EngineeringSchool of Basic Medical ScienceCentral South UniversityChangsha410078China Clinical Research Center for Reproduction and Genetics in Hunan Province Reproductive and Genetic Hospital of CITIC-XiangyaChangsha410078China Zebrafish Genetics Laboratory College of Life SciencesHunan Normal UniversityChangsha410081China Department of Cardiovascular Surgery The Second Xiangya Hospital of Central South UniversityCentral South UniversityChangsha410011China Clinical Center for Gene Diagnosis and Therapy Department of Cardiovascular SurgeryThe Second Xiangya Hospital of Central South UniversityChangsha410011China

Primary ciliary dyskinesia(PCD)is a congenital,motile ciliopathy with pleiotropic *** nearly 50 causative genes have been identified,they only account for approximately 70%of definitive PCD *** axonemal heavy chain 10(DNAH10)encodes a subunit of the inner arm dynein heavy chain in motile cilia and sperm *** on the common axoneme structure of motile cilia and sperm flagella,DNAH10 variants are likely to cause *** exome sequencing,we identified a novel DNAH10 homozygous variant(c.589C>T,p.R197W)in a patient with PCD from a consanguineous *** patient manifested sinusitis,bronchiectasis,situs inversus,and *** analysis showed the absence of DNAH10 and DNALI1 in the respiratory cilia,and transmission electron microscopy revealed strikingly disordered axoneme 9+2 architecture and inner dynein arm defects in the respiratory cilia and sperm ***,animal models of Dnah10-knockin mice harboring missense variants and Dnah10-knockout mice recapitulated the phenotypes of PCD,including chronic respiratory infection,male infertility,and *** the best of our knowledge,this study is the first to report DNAH10 deficiency related to PCD in human and mouse models,which suggests that DNAH10 recessive mutation is causative of PCD.

关键词： DNAH10 mice motile cilia mutation primary ciliary dyskinesia

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二阶随机控制变点的Kolmogrov型检验和估计(英文)

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应用概率统计 2001年第2期17卷 168-174页

作者：缪柏其谭智平中国科学技术大学统计与金融系合肥230026

基于Ｋｏｌｍｏｇｒｏｖ型统计量和Ｋｉｅｆｅｒ过程，对一样本情形，我们讨论了二阶随机控制变点的检验和估计。得到了检验统计量的渐近分布且用模拟方法给出了其有限样本的分位数。并证明了变点的估计为强相合的．

关键词：二阶随机控制一样本检验问题变点 Kiefer过程渐近分布估计 Kolmogrov型统计量强相合

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Mechanistic study of angiogenesis induced by <i>shh</i>-transfected BMMSC transplantation after myocardial infarction

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Stem Cell Discovery 2013年第2期3卷 83-89页

作者： Fenglin Song Ming Wu Tao tang Xiaoming Wu Wenwu Zhou Jin Shi Wei Zhang zhiping tan Jinfu Yang Department of the Cardiothoracic Surgery of the 2nd Xiangya Hosptial Central South University Changsha China

Objective: To investigate the changes and mechanism of angiogenesis in myocardium induced by transplantation of the sonic hedgehog (shh) gene transfected in bone marrow mesenchymal stem cells (BMMSC) after myocardial infarction. Methods: A rat model of acute myocardial infarction was made by coronary artery ligation. The rats were randomly divided into five groups of 40 rats each. These were further subdivided into groups of 10 rats. The peripheral regions of the infarcts were injected with either BMMSCSHH (transfection group), equivalent BMMSC (cell only group), BMMSC and pcDNA3.1-Shh DNA mixture (mixture group), pcDNA3.1-shh DNA alone (gene only group), or equal volumes of low-sugar DMEM medium (control group). One, two, four, and eight weeks after transplantation, specimens were harvested from the transplantation site to determine the expression of SHH signaling pathway downstream genes Ptc1, Gli-2, COUP-TF II, angiogenesis promoting factor VEGF, and Ang-1 using RT-PCR. Results: Seven days after transplantation, the expression of SHH signaling pathway downstream genes, Ptc1, Gli-2, and COUP-TF II was significantly more pronounced in the transfection group than in the control group, cell only group, gene only group, or mixture group (Ptc1: P P P < 0.05, and P COUP-TF II: P P P P Gli-2: P P P < 0.05, and P < 0.05, respectively). The expression of angiogenesis-promoting genes Vegf and Ang-1 was significantly more pronounced than in the control group, cell only group, or gene only group (Vegf: P P P Ang-1: P P P < 0.05, respectively). Conclusion: Transplantation of the shh-gene-transfected BMMSCs to the peripheral regions of myocardial infarcts promoted angiogenesis by upregulating downstream gene expression.

关键词： Shh Bone Marrow Mesenchymal Stem Cells Ptc 1 Gli -2 COUP-TF II VEGF Ang -1

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基于大数据的辅机设备振动噪声监测分析平台

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计算机工程与应用 2018年第22期54卷 258-264页

作者：刘肃平谭志平广东科技学院计算机系广东东莞523083

分析了对辅机设备进行状态监测和分析研究的必要性,创新地将大数据技术应用于该领域,解决了该研究领域中的关键技术难题,设计并实现了一个辅机设备振动噪声大数据监测分析研究平台。平台采用流式数据实时分析技术和实时批处理技术相结... 详细信息

分析了对辅机设备进行状态监测和分析研究的必要性,创新地将大数据技术应用于该领域,解决了该研究领域中的关键技术难题,设计并实现了一个辅机设备振动噪声大数据监测分析研究平台。平台采用流式数据实时分析技术和实时批处理技术相结合的方式,采用Storm+Hadoop大数据处理架构。一方面,利用Storm以流计算的方式,对噪音、振动、电流、电压、谐波等海量原始数据进行快速计算和处理,并将处理后的数据传输至实时监测中心;另一方面,采用批计算技术,将海量原始数据存储到基于Hadoop的分布式文件系统中,建立大数据库,再采用基于MapReduce的大数据分析技术对海量数据进行数据挖掘和建模。该平台的研究不仅实现了对辅机设备的运行管理的监测和分析,还可以作为辅机设备振动噪声大数据建模和研究的基础。

关键词：辅机设备大数据技术数据挖掘振动噪声

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浮地型忆阻器混沌电路的分析与实现

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仪器仪表学报 2014年第9期35卷 2123-2129页

作者：谭志平曾以成李志军洪庆辉湘潭大学光电工程系湘潭411105 湘潭大学信息工程系湘潭411105

利用磁通控制的分段线性浮地型忆阻器,设计了一个新型四阶忆阻器混沌电路。分析系统的基本动力学行为,如平衡点稳定性,李雅普诺夫指数和分岔图。数值仿真结果表明电路可产生一类特殊的混沌吸引子,且随系统参数的改变可产生丰富复杂的混... 详细信息

利用磁通控制的分段线性浮地型忆阻器,设计了一个新型四阶忆阻器混沌电路。分析系统的基本动力学行为,如平衡点稳定性,李雅普诺夫指数和分岔图。数值仿真结果表明电路可产生一类特殊的混沌吸引子,且随系统参数的改变可产生丰富复杂的混沌行为。为验证电路的混沌行为,采用基本电路元件设计了一个浮地型忆阻器模拟等效电路,并对所提忆阻器混沌电路进行了实验验证,结果与理论分析基本吻合。

关键词：忆阻器浮地混沌

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