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Presence of Rare Variants is Associated with Poorer Survival in Chinese Patients with Amyotrophic Lateral Sclerosis

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Phenomics 2023年第2期3卷 167-181页

作者： Siqi Dong xianhong yin Kun Wang Wenbo Yang Jiatong Li Yi Wang Yanni Zhou Xiaoni Liu Jiucun Wang Xiangjun Chen Department of Neurology Huashan Hospital and Institute of NeurologyFudan UniversityShanghai 200040China National Center for Neurological Disorders Shanghai 200040China Department of Anthropology and Human Genetics School of Life SciencesFudan UniversityShanghai 200438China Human Phenome Institute Fudan UniversityShanghai 200433China

Amyotrophic lateral sclerosis(ALS)is a fatal neurodegenerative disorder with phenotypic and genetic *** studies have suggested an oligogenic basis of ALS,in which the co-occurrence of two or more genetic variants has additive or synergistic deleterious *** assess the contribution of possible oligogenic inheritance,we profiled a panel of 43 relevant genes in 57 sporadic ALS(sALS)patients and eight familial ALS(fALS)patients from five pedigrees in east *** filtered rare variants using the combination of the Exome Aggregation Consortium,the 1000 Genomes and the HuaBiao *** analyzed patients with multiple rare variants in 43 known ALS causative genes and the genotype–phenotype ***,we detected 30 rare variants in 16 different genes and found that 16 of the sALS patients and all the fALS patients examined harbored at least one variant in the investigated genes,among which two sALS and four fALS patients harbored two or more *** note,the sALS patients with one or more variants in ALS genes had worse survival than the patients with no ***,in one fALS pedigree with three variants,the family member with three variants(Superoxide dismutase 1(SOD1)p.V48A,Optineurin(OPTN)p.A433V and TANK binding kinase 1(TBK1)p.R573H)exhibited much more severe disease phenotype than the member carrying one variant(TBK1 p.R573H).Our findings suggest that rare variants could exert a negative prognostic effect,thereby supporting the oligogenic inheritance of ALS.

关键词： Amyotrophic lateral sclerosis Oligogenic inheritance Survival Superoxide dismutase 1 TANK-binding kinase 1 Optineurin

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纳米配合物的制备及应用研究进展

化学通报 2008年第5期71卷 343-349页

作者：祝婕尹显洪冯宇赵凯广西民族大学化学与生态工程学院

纳米配合物由于具有许多独特的化学性质和物理性质,因而在光、电、磁领域得到广泛应用。本文对纳米配合物的制备及应用前景作了综述,其制备方法主要分为,固相法、气相法、液相法。分析讨论了各种方法的原理、特点及个别典型反应装置,评... 详细信息

纳米配合物由于具有许多独特的化学性质和物理性质,因而在光、电、磁领域得到广泛应用。本文对纳米配合物的制备及应用前景作了综述,其制备方法主要分为,固相法、气相法、液相法。分析讨论了各种方法的原理、特点及个别典型反应装置,评述了各种方法的优点与不足,展望了纳米配合物发展前景及其开发应用潜力。

关键词：纳米配合物制备应用

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松香枞酸结构和性质的理论研究

林业科学 2009年第8期45卷 117-123页

作者：刁开盛尹显洪王海军广西民族大学化学与生态工程学院南宁530006 江南大学化学与材料工程学院无锡214122

采用从头算Hartree-Fock和密度泛函DFT方法对松香枞酸分子的几何构型进行理论计算,按最低能量原理确定其最稳定的构型。对该稳定构型的结构参数与文献报道的理论计算值和试验测定值进行分析比较,发现3种理论方法中DFT-B3LYP算法更加精确... 详细信息

采用从头算Hartree-Fock和密度泛函DFT方法对松香枞酸分子的几何构型进行理论计算,按最低能量原理确定其最稳定的构型。对该稳定构型的结构参数与文献报道的理论计算值和试验测定值进行分析比较,发现3种理论方法中DFT-B3LYP算法更加精确,与实际测量值的误差更小,更加适合用于对此类化合物的分析与预测。同时用B3LYP泛函在6-31 +G**机组水平对松香的几种主要树脂酸进行能量分析,预测其稳定性并得到相应的热力学参数。结果表明:计算化学方法也是科学研究的一种有用工具,精确的理论计算能够获得实验室难于得到的重要的化学与物理信息,理论计算也可作为研究该类体系的一种新方法。

关键词：枞酸松香稳定性热力学参数

Using Composite Phenotypes to Reveal Hidden Physiological Heterogeneity in High-Altitude Acclimatization in a Chinese Han Longitudinal Cohort

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Phenomics 2021年第1期1卷 3-14页

作者： Yi Li Yanyun Ma Kun Wang Menghan Zhang Yi Wang Xiaoyu Liu Meng Hao xianhong yin Meng Liang Hui Zhang Xiaofeng Wang Xingdong Chen Yao Zhang Wenyuan Duan Longli Kang Bin Qiao Jiucun Wang Li Jin State Key Laboratory of Genetic Engineering Collaborative Innovation Center for Genetics and DevelopmentSchool of Life Sciences and Human Phenome InstituteFudan UniversityShanghai 200438China Ministry of Education Key Laboratory of Contemporary Anthropology Department of Anthropology and Human GeneticsSchool of Life SciencesFudan UniversityShanghai 200438China Institute for Six‑Sector Economy Fudan UniversityShanghai 200433China Fudan-Taizhou Institute of Health Sciences Taizhou 225300China Key Laboratory of High Altitude Environment and Genes Related To Diseases of Tibet Autonomous Region School of MedicineXizang Minzu UniversityXianyang 712082China Institute of Cardiovascular Disease Shandong Provincial Western HospitalJinanShandong 250022China Research Unit of Dissecting the Population Genetics and Developing New Technologies for Treatment and Prevention of Skin Phenotypes and Dermatological Diseases(2019RU058) Chinese Academy of Medical SciencesBeijing 100730China

Altitude acclimatization is a human physiological process of adjusting to the decreased oxygen *** several physiological processes are involved and their correlations are complicated,the analyses of single traits are insufficient in revealing the complex mechanism of high-altitude *** this study,we examined these physiological responses as the composite phenotypes that are represented by a linear combination of physiological *** developed a strategy that combines both spectral clustering and partial least squares path modeling(PLSPM)to define composite phenotypes based on a cohort study of 883 Chinese Han *** addition,we captured 14 composite phenotypes from 28 physiological traits of high-altitude *** these composite phenotypes,we applied k-means clustering to reveal hidden population physiological heterogeneity in high-altitude ***,we employed multivariate linear regression to systematically model(Models 1 and 2)oxygen saturation(SpO_(2))changes in high-altitude acclimatization and evaluated model fitness *** phenotypes based on Model 2 fit better than single trait-based Model 1 in all measurement *** new strategy of using composite phenotypes may be potentially employed as a general strategy for complex traits research such as genetic loci discovery and analyses of phenomics.

关键词： Altitude acclimatization Composite phenotypes Hypoxia Complex traits Phenomics

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枞酸不饱和键氧化反应的密度泛函研究

林业科学 2010年第9期46卷 144-148页

作者：刁开盛尹显洪王海军广西民族大学化学与生态工程学院南宁530006 江南大学化学与材料工程学院无锡214122

运用密度泛函理论中的B3LYP泛函对枞酸氧化成羰基的反应进行计算,按最低能量原理确定氧化产物的最稳定构型,通过计算给出相应稳定构型的热力学参数理论值,如吉布斯自由能、热焓、热容和熵。考察活性氧[O]、臭氧、双氧水、过氧乙酸和分子... 详细信息

运用密度泛函理论中的B3LYP泛函对枞酸氧化成羰基的反应进行计算,按最低能量原理确定氧化产物的最稳定构型,通过计算给出相应稳定构型的热力学参数理论值,如吉布斯自由能、热焓、热容和熵。考察活性氧[O]、臭氧、双氧水、过氧乙酸和分子氧[O2]这5种氧化剂对枞酸双键氧化成羰基的反应难易程度,理论计算发现活性氧[O]最适合用于枞酸双键的氧化反应,臭氧次之,然后是双氧水,而分子氧[O2]最不适合用于该反应。

关键词：枞酸不饱和键氧化反应热力学性质密度泛函

DFT Calculations of the Photoluminescent Properties of 4′′-substituted 4′-phenyl-2,2:6′,2′′-terpyridine Compounds

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DFT Calculations of the Photoluminescent Properties of 4′′...

The composite phenotype analysis identifies potential concerted responses of physiological systems to high altitude exposure

中国化学会第七届全国结构化学学术会议

作者： Qijun Wang Guifang Qin Xingyong Xue Jiahe Li Yongqiang Zhang Yichen Huang xianhong yin Zhen Ma School of Chemistry and Chemical Engineering Guangxi University School of Chemistry and Chemical Engineering Guangxi University for Nationalities

A series of 4′′-substituted 4′-phenyl-2,2′:6′,2′′-terpyridine compounds,bearing hydrogen(1),methoxyl(2),methylsulfonyl(3),cyano(4),methyl(5),phenyl(6),iodo(7),or p-methyl-phenyl(8)were synthesized and characterized by IR,elemental analysis,H NMR,C NMR and X-ray *** photo-luminescent properties of these compounds and the effects of

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National Science Review 2023年第5期10卷 109-111页

作者： Yi Li Meng Hao Zixin Hu Yanyun Ma Kun Wang Xiaoyu Liu xianhong yin Menghan Zhang Yi Wang Meng Liang Yuan Guo Lei Bao Shixuan Zhang Shiguan Le Chenyuan Wu Dayan Sun Yang Wei Fei Wu Rui Zhang Lingxian Zhu Hui Zhang Shuai Jiang Xingdong Chen Xiaofeng Wang Yao Zhang Longli Kang Wenyuan Duan Bin Qiao Jiucun Wang Li Jin State Key Laboratory of Genetic Engineering Collaborative Innovation Center for Genetics and DevelopmentSchool of Life Sciences and Human Phenome InstituteFudan University Institute for Six-sector Economy Fudan University International Human Phenome Institutes Ministry of Education Key Laboratory of Contemporary Anthropology Department of Anthropology and Human GeneticsSchool of Life SciencesFudan University Greater Bay Area Institute of Precision Medicine(Guangzhou) School of Life SciencesFudan University Artificial Intelligence Innovation and Incubation Institute Fudan University Shanghai Pudong Hospital Fudan University Pudong Medical Center Fudan-Taizhou Institute of Health Sciences Key Laboratory of High-Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region School of MedicineXizang Minzu University Institute of Cardiovascular Disease Shandong Provincial Western Hospital Research Unit of Dissecting the Population Genetics and Developing New Technologies for Treatment and Prevention of Skin Phenotypes and Dermatological Diseases (2019RU058) Chinese Academy of Medical Sciences

Environmental stresses,such as temperature,disease and altitude could induce systematic changes of biological systems which manifests as concerted responses across multiple systems within a certain period of time[1].High altitude acclimatization (HAA) refers to a series of adaptive physiological responses to hypoxic *** these processes,

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中医辨证分型与红霉素联用治疗小儿肺炎支原体肺炎的临床研究

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中医临床研究 2020年第29期12卷 29-31页

作者：殷宪红江苏省邳州市中医院江苏邳州221300

目的:分析肺炎支原体肺炎患儿采用红霉素联合中医辨证分型治疗的临床应用价值。方法:本次研究选择2016年1月-2018年12月我院收治小儿肺炎支原体肺炎患儿65例作为观察对象,根据入院先后顺序分为观察组与对照组,对照组患儿采用红霉素联合... 详细信息

目的:分析肺炎支原体肺炎患儿采用红霉素联合中医辨证分型治疗的临床应用价值。方法:本次研究选择2016年1月-2018年12月我院收治小儿肺炎支原体肺炎患儿65例作为观察对象,根据入院先后顺序分为观察组与对照组,对照组患儿采用红霉素联合头孢治疗,观察组患儿采用红霉素联合中医辨证分型治疗,对比两组治疗总效果,记录并比较各组患儿各症状改善时间,计算各组患儿发生不良反应的概率。检测比对各组患儿治疗后实验室相关指标差异。结果:观察组患儿治疗总有效率明显高于对照组(χ^2=5.35,P<0.05),同时,观察组患儿停止咳嗽时间、高热消退时间、肺啰音消失时间、总住院时间均明显短于对照组(t=7.33、6.77、8.59、8.32,P<0.05)。观察组患儿治疗后发生不良反应的概率较对照组相比更低(χ^2=16.52,P<0.05)。另外,观察组患儿治疗后经检验相应实验室指标均优于对照组。结论:小儿肺炎支原体肺炎患儿采用红霉素联合中医辩证分型治疗效果突出,可改善患儿症状表现,减少用药后不良反应,安全性高,值得临床应用推广。

关键词：中医辨证分型红霉素小儿肺炎支原体肺炎

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物资集约化方法在电力系统中的作用分析

科技与创新 2014年第22期 26-26,29页

作者：殷显虹国网四川盐边县供电有限责任公司四川攀枝花617000

现阶段,物资集约化管理在企业管理中发挥着重要作用,受到越来越多的企业管理人员的关注。结合电力系统的发展现状,对物资集约化管理的内容及其在电力系统中的应用进行探讨。

关键词：电力系统物资集约化物资采购业务流程