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Genetic analysis of transcription factors in dopaminergic neuronal development in Parkinson’s disease

Chinese Medical Journal 2024年第4期137卷 450-456页

作者： Yuwen Zhao Lixia Qin Hongxu Pan Tingwei Song Yige Wang Xiaoxia Zhou Yaqin Xiang Jinchen Li Zhenhua Liu Qiying Sun Jifeng Guo xinxiang yan Beisha Tang Qian Xu Department of Neurology Xiangya HospitalCentral South UniversityChangshaHunan 410008China Department of Neurology The Second Xiangya HospitalCentral South UniversityChangshaHunan 410011China Bioinformatics Center National Clinical Research Center for Geriatric Disorders Xiangya HospitalCentral South UniversityChangshaHunan 410008China Department of Geriatrics Xiangya HospitalCentral South UniversityChangshaHunan 410008China Centre for Medical Genetics and Hunan Key Laboratory of Medical Genetics School of Life SciencesCentral South UniversityChangshaHunan 410008China Key Laboratory of Hunan Province in Neurodegenerative Disorders Central South UniversityChangshaHunan 410008China

Background:Genetic variants of dopaminergic transcription factor-encoding genes are suggested to be Parkinson’s disease(PD)risk factors;however,no comprehensive analyses of these genes in patients with PD have been ***,we aimed to genetically analyze 16 dopaminergic transcription factor genes in Chinese patients with ***:Whole-exome sequencing(WES)was performed using a Chinese cohort comprising 1917 unrelated patients with familial or sporadic early-onset PD and 1652 ***,whole-genome sequencing(WGS)was performed using another Chinese cohort comprising 1962 unrelated patients with sporadic late-onset PD and 1279 ***:We detected 308 rare and 208 rare protein-altering variants in the WES and WGS cohorts,***-based association analyses of rare variants suggested that MSX1 is enriched in sporadic late-onset ***,the significance did not pass the Bonferroni ***,72 and 1730 common variants were found in the WES and WGS cohorts,***,single-variant logistic association analyses did not identify significant associations between common variants and ***:Variants of 16 typical dopaminergic transcription factors might not be major genetic risk factors for PD in Chinese ***,we highlight the complexity of PD and the need for extensive research elucidating its etiology.

关键词： Parkinson’s disease Transcription factors Dopaminergic neurons Genetic Variants

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The Continuity of Barrier Function with Respect to the Parameter

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Chinese Annals of Mathematics,Series B 2009年第2期30卷 145-152页

作者： xinxiang LI Jun yan School of Mathematical Sciences Fudan University Shanghai 200433 China

The authors study the continuity of barrier function Be（x） with respect to the parameter. A sufficient condition which makes Be（x） be continuous with respect to c is obtained, and an example of discontinuity when ... 详细信息

关键词： Lagrangian systera Average action Barrier function Minimal measure Uniquely ergodic

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基于HS-SPME-GC-MS和化学计量学对不同产地红枣香气成分的分析

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食品工业科技 2024年第6期45卷 265-271页

作者：胡航伟张仁堂张楠楠梁辰游新侠孔欣欣朱玲闫信想刘云国郑州科技学院食品科学与工程学院河南郑州450064 山东农业大学食品科学与工程学院山东泰安271018 临沂大学生命科学学院山东临沂276000

为了比较不同产地红枣的挥发性风味特征,采用顶空固相微萃取结合气相色谱质谱技术对5个产地(新郑、灵宝、榆林、和田、德州)枣果的挥发性香气成分进行分析。结果表明:共鉴定出化合物51种,其中,新疆和田大枣中所含挥发性化合物的种类最... 详细信息

为了比较不同产地红枣的挥发性风味特征,采用顶空固相微萃取结合气相色谱质谱技术对5个产地(新郑、灵宝、榆林、和田、德州)枣果的挥发性香气成分进行分析。结果表明:共鉴定出化合物51种,其中,新疆和田大枣中所含挥发性化合物的种类最多。结合多元统计学分析,不同产地红枣的整体挥发性风味物质的差异得以很好区分。在满足预测变量重要性投影>1、P<0.05的条件下,从红枣样品中筛选出13种差异性特征香气物质,包括己酸甲酯、癸酸甲酯、己醛、苯甲醛等,赋予红枣独特的杏仁味、甜味、水果味。本研究结果明确了不同产地红枣香气品质的化学物质基础,为红枣产地溯源研究提供一种新思路,进一步对枣果资源的合理加工利用提供科学依据。

关键词：红枣化学计量学固相微萃取风味物质地理来源

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Prenatal diagnosis of spinocerebellar ataxia type 3/Machado-Joseph disease in China's Mainland A case report

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Neural Regeneration Research 2011年第26期6卷 2047-2049页

作者： Lifang Lei Junling Wang Shen Zhang Hong Jiang Lu Shen Qian Xu xinxiang yan Yi Yuan Qian Pan Kun Xia Beisha Tang Department of Neurology Xiangya Hospital Central South University Changsha 410008 Hunan Province China Department of Neurology Xian-gya Third Hospital Central South University -Changsha 410013 Hunan Province China National Laboratory of Medical Genetics of China Changsha 410008 Hunan Province China

Spinocerebellar ataxia type 3/Machado-Joseph disease （SCA3/MJD） is a progressive, currently untreatable and ultimately fatal ataxic disorder that belongs to the group of neurological disorders known as CAG-repeat or polyglutamine diseases. Here, we present the first prenatal diagnosis of SCA3/MJD in China's Mainland in a woman who was known to carry an expanded CAG-trinucleotide repeat in the MJD1 gene. After evaluating motivation and psychological tolerance of the couple, amniocentesis was performed after 14 weeks of gestation. Polymerase chain reactions followed by T-vector cloning and direct sequencing were employed to evaluate the CAG-repeat number of the fetal MJD1 gene. We identified a truncated CAG expansion of 78 repeats in the MJD1 gene of the fetus compared with 81 repeats in his mother.

关键词： prenatal diagnosis spinocerebellar ataxia type 3/Machado-Joseph disease CAG-trinucleotide repeats genetic counseling

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Structure Regulation of Electric Double Layer via Hydrogen Bonding Effect to Realize High-Stability Lithium-Metal Batteries

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Energy & Environmental Materials 2024年第3期7卷 72-83页

作者： Sheng Liu Chaozhu Shu Yu yan Dayue Du Longfei Ren Ting Zeng Xiaojuan Wen Haoyang Xu xinxiang Wang Guilei Tian Ying Zeng College of Materials and Chemistry&Chemical Engineering Chengdu University of Technology1#DongsanluErxianqiaoChengdu 610059China Institute of Fundamental and Frontier Sciences University of Electronic Science and Technology of ChinaChengdu 611731China State Key Laboratory of Polymer Materials Engineering Polymer Research InstituteSichuan UniversityChengdu 610065China

The interfacial chemistry of solid electrolyte interphases(SEI)on lithium(Li)electrode is directly determined by the structural chemistry of the electric double layer(EDL)at the ***,a strategy for regulating the structural chemistry of EDL via the introduction of intermolecular hydrogen bonds has been proposed(p-hydroxybenzoic acid(pHA)is selected as proof-of-concept).According to the molecular dynamics(MD)simulation and density functional theory(DFT)calculation results,the existence of hydrogen bonds realizes the anion structural rearrangement in the EDL,reduces the lowest unoccupied molecular orbital(LUMO)energy level of anions in the EDL,and the number of free solvent molecules,which promotes the formation of inorganic species-enriched SEI and eventually achieves the dendrite-free Li *** on this strategy,Li‖Cu cells can stably run over 185 cycles with an accumulated active Li loss of only 2.27 mAh cm^(-2),and the long-term cycle stability of Li‖Li cells is increased to 1200 *** addition,the full cell pairing with the commercial LiFePO_(4)(LFP)cathodes exhibits stable cycling performance at 1C,with a capacity retention close to 90%after 200 cycles.

关键词： electric double layer electrolyte additives intermolecular hydrogen bonds Li metal batteries p-Hydroxybenzoic acid

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Neuropsychological profile in Parkinson's Disease with Mild Cognitive Impairment and Dementia in China

Neuropsychological profile in Parkinson's Disease with Mild ...

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第四届全国痴呆与认知障碍学术研讨会及高级讲授班

作者： Wang Yaqin Tang Beisha yan xinxiang Guo Jifeng Department of Neurology Xiangya Hospital Central South University

Objective Mild cognitive impairment(MCI)and dementia are frequent features of Parkinson’s disease(PD),but widely disparate criteria have been *** understanding of the prevalence and cognitive profile of Chinese PD patients remains *** aim of the study is to determine the frequency and pattern of cognitive dysfunction,and identify risk factors of cognitive dysfunction

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RNA interference blocking the apoptosis in HEK293 cells induced by overexpression of alpha-synuclein

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Neural Regeneration Research 2009年第7期4卷 541-546页

作者： Tao Chen Beisha Tang Xiaoping Liao Guoqiang Wen xinxiang yan Jifeng Guo Yuhu Zhang Feng Ouyang Zhigang Long Li Cao Jing Li Department of Neurology People's Hospital of Hainan Province Haikou 570311 Hainan Province China Department of Neurology Xiangya Hospital Central South University Changsha 410008 Hunan Province China

BACKGROUND： Overexpression of α-synuclein can induce cell apoptosis. RNA interference （RNAi） may block specific gene function and cause gene silencing. OBJECTIVE： To construct a specific and effective RNAi plasmid for the α-synuclein gene and investigate if RNAi can block apoptosis in HEK293 cells, induced by overexpression of wild-type α-synuclein. DESIGN, TIME AND SETTING： A contrast experiment based on genetically engineered cytobiology was performed at the State Key Lab of Medical Genetics of China, Xiangya Medical College of Central South University, between October 2004 and October 2008. MATERIALS： HEK293 cells and pBSHH1 plasmid were provided by the State Key Lab of Medical Genetics of China; OligDNA sequence by Sagon Bioengineering Company, Shanghai; Lipofectamine 2000 by Invitrogen, USA; α-synuclein monoclonal antibody, Hoechst 33258, and MTT by Sigma, USA; Horseradish peroxidase-coupled goat anti-rat IgG by KPL, USA; FACSan flow cytometry by BD, USA. METHODS： Four target sites were used to construct hairpin RNA pBSHH1 vectors - pSYNi-1, pSYNi-2, pSYNi-3 and pSYNi-4 - which were cloned in the pBSHH1 plasmid. HEK293 cells were transfected using Lipofectamine 2000. In addition, a non-transfect group and a negative plasmid transfect group were established. The cultured HEK293 cells were processed as follows： transfection of blank plasmid （blank control group）, transfection of α-synuclein-pEGFP and RNAi negative vector （negative control group）, and transfection of α-synuclein-pEGFP and pSYNi-1 （transfection group）. Cells in all groups were transfected with Lipofectamine 2000 for 48 hours. MAIN OUTCOME MEASURES： Expression of α-synuclein mRNA and protein were detected by RT-PCR and Western blot. Cell morphology was observed under an inverted fluorescence microscope; cell viability was measured using MTT method; and cell apoptosis was determined with Annexin V-PE flow cytometry. RESULTS： α-synuclein mRNA and protein expressions were significantly decrea

关键词： RNA interference α-synuclein gene apoptosis

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Rare TBK1 variants in patients with frontotemporal dementia and amyotrophic lateral sclerosis in a Chinese cohort

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Translational Neurodegeneration 2018年第1期7卷 346-351页

作者： Bin Jiao Qiying Sun Zhenhua Yuan Junling Wang Lin Zhou xinxiang yan Beisha Tang Lu Shen Department of Neurology Xiangya HospitalCentral South University87 Xiangya RdChangsha 410008China National Clinical Research Center for Geriatric Disorders Central South UniversityChangshaChina Key Laboratory of Hunan Province in Neurodegenerative Disorders Central South UniversityChangshaChina Department of Geriatrics Neurology Xiangya HospitalCentral South UniversityChangshaChina Parkinson’s Disease Center of Beijing Institute for Brain Disorders BeijingChina Collaborative Innovation Center for Brain Science ShanghaiChina Collaborative Innovation Center for Genetics and Development ShanghaiChina Key Laboratory of Organ Injury Aging and Regenerative Medicine of Hunan ProvinceChangshaChina

Background:The TANK-Binding Kinase 1(TBK1)gene has recently been identified as the third or fourth most frequent cause of frontotemporal dementia(FTD)and amyotrophic lateral sclerosis(ALS).The aim of this study was to assess the genetic contribution of TBK1 in a Chinese ***:A total of 270 cases with ALS,FTD,or their combination were recruited into this *** the coding exons of TBK1 and intron-exon boundaries were sequenced using Sanger *** frequency of TBK1 variants and the correlation with clinical phenotypes were ***:A novel mutation(c.1959_1960insGT,p.E653fs)was identified in a sporadic case with semantic dementia,secondarily developing *** novel variant(c.2063_2064delTT,p.L688Rfs*14)was found in an ALS-FTD ***,the TBK1 variants could only account for 0.7% of ***:This study enlarges the genetic and phenotypic spectrum of TBK1 mutation in a Chinese *** data indicates that TBK1 mutation is not a common cause for ALS and FTD in Chinese patients.

关键词： Amyotrophic lateral sclerosis Frontotemporal dementia TBK1 gene

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结节区视角下江苏省区域空间结构演化研究——对区域共振轴结构模式的探讨

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地理科学进展 2013年第2期32卷 203-213页

作者：严鑫翔马晓冬徐广军江苏师范大学城市与环境学院徐州221116 江苏师范大学区域与城市研究中心徐州221009

长时间序列的区域空间结构的演化规律,一直是空间结构模式分析中的薄弱环节,而历史过程的长时段分析,有助于对区域空间结构现状研判和对未来优化提供科学支撑。本文从结节区的视角,对江苏省域地区过去2800年间发展轴线产生、发展、主导... 详细信息

长时间序列的区域空间结构的演化规律,一直是空间结构模式分析中的薄弱环节,而历史过程的长时段分析,有助于对区域空间结构现状研判和对未来优化提供科学支撑。本文从结节区的视角,对江苏省域地区过去2800年间发展轴线产生、发展、主导、跃迁的全过程进行系统解析。选取春秋、隋、元、今4个时点作点—轴、双核型空间结构的横向比较,认为存在4个发展阶段:春秋至南北朝、隋至南宋、元至清、民国至今;其中,元至清和民国至今阶段,分别发现区域发展中存在双核共振轴、港城共振轴现象。共振轴结构模式指区域中心城市(或市区)轴与门户港城(或港口县域)轴及其交通链接所形成的一种空间结构现象,存在于过渡型区域发展背景下的沿江与沿海区域。最后,从城市职能的变迁、点—轴型发展轴的跃迁、现代交通线的布局、相邻区域(上海)4方面对江苏省区域空间结构的演化机理进行分析。

关键词：共振轴结构模式点-轴结构模式双核结构模式结节区江苏省

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带有转子位置检测器类电动机的几种测速方法的研究

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微特电机 1994年第6期22卷 18-22,33页

作者：颜新祥严仰光扬州大学工学院扬州225001 南京航空航天大学南京210016

带有转子位置检测器类电动机的测速除了常用的测速方法外,还有其特有的测速方法.本文分析讨论了几种测速方法的特点和应用,在构成这类电动机的转速闭环时,根据不同指标要求和应用场合选择合适的测速方法具有实际意义.

关键词：转子位置检测器测速方法电动机

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