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COL4A3 mutations cause focal segmental glomerulosclerosis

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分子细胞生物学报:英文版 2015年第6期7卷 184-184页

作者： Jingyuan Xie Xiaoxi Wu Hong Ren Weiming Wang Zhaohui Wang Xiaoxia Pan Xu Hao Jun Tong Jun ma Zhibin Ye Guoyu Meng Yufei Zhu Krzysztof Kiryluk Xiangyin Kong Landian Hu Nan Chen Department of Nephrology Shanghai Ruijin HospitalShanghai Jiao Tong University School of MedicineShanghaiChina State Key Laboratory for Medical Genomics Institute of Health SciencesShanghai Jiao Tong University School of Medicine(SJTUSM)and Shanghai Institutes for Biological Sciences(SIBS)Chinese Academy of Sciences(CAS)ShanghaiChina Nephrology Department Huadong Hospital Affiliated to Fudan UniversityShanghaiChina State Key Laboratory for Medical Genomics Shanghai Institute of HematologyRui Jin Hospital Affiliated to Shanghai Jiao Tong University School of MedicineShanghaiChina Division of Nephrology Department of MedicineCollege of Physicians and SurgeonsColumbia UniversityNew YorkUSA

In this article,there were two annotation mistakes about the precise deletion position in COL4A3 and COL4A4 mutations in ARAS patients(summarized in Figure 2E).This was caused by a bug in the old version(v3.4)of Variant Caller for Ion *** variant in family AP5 should be described as‘chr2:227942771delG’,instead of‘chr:227942770delG’,in the COL4A4 *** variant identified in family AP1 should be described as‘chr2:228172490dela’,instead of‘chr:228172489dela’,in the COL4A3 *** corrected Figure 2E is shown as *** results and conclusions of the article are not affected,and the authors apologize for these errors.

关键词： Figure segmental precise

一例单纯性高甲硫氨酸血症患儿的maT1A基因突变分析

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中华医学遗传学杂志 2017年第1期34卷 98-101页

作者：孙云马定远王彦云杨冰蒋涛南京医科大学附属妇产医院遗传医学中心 210004

目的对1例串联质谱技术新生儿筛查发现的可疑单纯性高甲硫氨酸血症患儿进行致病基因突变检测，为临床诊断和遗传咨询提供依据。方法归纳整理1例单纯性高甲硫氨酸血症患儿的临床资料，提取其基因组DNA，应用半导体测序技术进行高通量测... 详细信息

目的对1例串联质谱技术新生儿筛查发现的可疑单纯性高甲硫氨酸血症患儿进行致病基因突变检测，为临床诊断和遗传咨询提供依据。方法归纳整理1例单纯性高甲硫氨酸血症患儿的临床资料，提取其基因组DNA，应用半导体测序技术进行高通量测序，对可疑突变用Sanger测序进行验证。结果患儿除血甲硫氨酸升高外无其他临床症状。IonTorrent半导体测序结果显示患儿携带maT1A基因C．345dela和C．529C〉T突变，二者均为未报道过的新突变，患儿父亲为C．345dela突变携带者，母亲为C．529C〉T突变携带者。结论maT1A基因C．345dela和C．529C〉T突变可能为这例单纯型高甲硫氨酸血症患儿的致病原因，新一代半导体测序技术是遗传代谢病诊断的重要手段。

关键词：单纯性高甲硫氨酸血症 maT1A基因 Ion Torrent半导体测序

由超拍电子伏特加速器产生的超高能伽马射线气泡

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Science Bulletin 2024年第4期69卷 449-457页

作者： LHAASO Collaboration Zhen Cao Chuandong Gao Cong Li Ruo-Yu Liu Ruizhi Yang 不详 Key Laboratory of Particle Astrophyics&Experimental Physics Division&Computing Center Institute of High Energy PhysicsChinese Academy of SciencesBeijing 100049China University of Chinese Academy of Sciences Beijing 100049China TIANFU Cosmic Ray Research Center ChengduChina Institute of Frontier and Interdisciplinary Science Shandong UniversityQingdao 266237China School of Astronomy and Space Science Nanjing UniversityNanjing 210023China University of Science and Technology of China Hefei 230026China

We report the detection of aγ-ray bubble spanning at least 100deg2 in ultra-high energy(UHE)up to a few PeV in the direction of the star-forming region Cygnus X,implying the presence super PeVatron(s)accelerating protons to at least 10 PeV.A log-parabola form with the photon indexΓ(E)=(2.71±0.02)+(0.11±0.02)×log10(E/10 TeV)is found fitting the gamma-ray energy spectrum of the bubble *** sources,“hot spots”correlated with very massive molecular clouds,and a quasi-spherical amorphousγ-ray emitter with a sharp central brightening are observed in the *** the core of~0.5°,spatially associating with a region containing massive OB association(Cygnus OB2)and a microquasar(Cygnus X-3),as well as previously reported multi-TeV sources,an enhanced concentration of UHEγ-rays is observed with 2 photons at energies above 1 *** general feature of the bubble,the morphology,and the energy spectrum,are reasonably reproduced by the assumption of a particle accelerator in the core,continuously injecting protons into the ambient medium.

关键词： Cosmic rays γ-rays Interstellar medium Star cluster

Evidence for particle acceleration approaching PeV energies in the W51 complex

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Science Bulletin 2024年第18期69卷 2833-2841页

作者： LHAASO Collaboration Zhen Cao F.Aharonian Axikegu Y.X.Bai Y.W.Bao D.Bastieri X.J.Bi Y.J.Bi W.Bian A.V.Bukevich Q.Cao W.Y.Cao Zhe Cao J.Chang J.F.Chang A.M.Chen E.S.Chen H.X.Chen Liang Chen Lin Chen Long Chen M.J.Chen M.L.Chen Q.H.Chen S.Chen S.H.Chen S.Z.Chen T.L.Chen Y.Chen N.Cheng Y.D.Cheng M.Y.Cui S.W.Cui X.H.Cui Y.D.Cui B.Z.dai H.L.dai Z.G.dai danzengluobu X.Q.Dong K.K.Duan J.H.Fan Y.Z.Fan J.Fang J.H.Fang K.Fang C.F.Feng H.Feng L.Feng S.H.Feng X.T.Feng Y.Feng Y.L.Feng S.Gabici B.Gao C.D.Gao Q.Gao W.Gao W.K.Gao M.M.Ge L.S.Geng G.Giacinti G.H.Gong Q.B.Gou M.H.Gu F.L.Guo X.L.Guo Y.Q.Guo Y.Y.Guo Y.A.Han M.Hasan H.H.He H.N.He J.Y.He Y.He Y.K.Hor B.W.Hou C.Hou X.Hou H.B.Hu Q.Hu S.C.Hu D.H.Huang T.Q.Huang W.J.Huang X.T.Huang X.Y.Huang Y.Huang X.L.Ji H.Y.Jia K.Jia K.Jiang X.W.Jiang Z.J.Jiang M.Jin M.M.Kang I.Karpikov D.Kuleshov K.Kurinov B.B.Li C.M.Li Cheng Li Cong Li D.Li F.Li H.B.Li H.C.Li Jian Li Jie Li K.Li S.D.Li W.L.Li W.L.Li X.R.Li Xin Li Y.Z.Li Zhe Li Zhuo Li E.W.Liang Y.F.Liang S.J.Lin B.Liu C.Liu D.Liu D.B.Liu H.Liu H.D.Liu J.Liu J.L.Liu M.Y.Liu R.Y.Liu S.M.Liu W.Liu Y.Liu Y.N.Liu Q.Luo Y.Luo H.K.Lv B.Q.ma L.L.ma X.H.ma J.R.mao Z.Min W.Mitthumsiri H.J.Mu Y.C.Nan A.Neronov L.J.Ou P.Pattarakijwanich Z.Y.Pei J.C.Qi M.Y.Qi B.Q.Qiao J.J.Qin A.Raza D.Ruffolo A.Sáiz M.Saeed D.Semikoz L.Shao O.Shchegolev X.D.Sheng F.W.Shu H.C.Song Yu.V.Stenkin V.Stepanov Y.Su D.X.Sun Q.N.Sun X.N.Sun Z.B.Sun J.Takata P.H.T.Tam Q.W.Tang R.Tang Z.B.Tang W.W.Tian C.Wang C.B.Wang G.W.Wang H.G.Wang H.H.Wang J.C.Wang Kai Wang Kai Wang L.P.Wang L.Y.Wang P.H.Wang R.Wang W.Wang X.G.Wang X.Y.Wang Y.Wang Y.D.Wang Y.J.Wang Z.H.Wang Z.X.Wang Zhen Wang Zheng Wang D.M.Wei J.J.Wei Y.J.Wei T.Wen C.Y.Wu H.R.Wu Q.W.Wu S.Wu X.F.Wu Y.S.Wu S.Q.Xi J.Xia G.M.Xiang D.X.Xiao G.Xiao Y.L.Xin Y.Xing D.R.Xiong Z.Xiong D.L.Xu R.F.Xu R.X.Xu W.L.Xu L.Xue D.H.Yan J.Z.Yan T.Yan C.W.Yang C.Y.Yang F.Yang F.F.Yang L.L.Yang M.J.Yang R.Z.Yang W.X.Yang Y.H.Yao Z.G.Yao L.Q.Yin N.Yin X.H.You Z.Y.You Y.H.Yu Q.Yuan H.Yue H.D.Zeng T.X.Zeng W.Zeng M.Zha B.B.Zhang F.Zhang H.Zhang 不详 Key Laboratory of Particle Astrophysics&Experimental Physics Division&Computing Center Institute of High Energy PhysicsChinese Academy of SciencesBeijing 100049China University of Chinese Academy of Sciences Beijing 100049China TIANFU Cosmic Ray Research Center ChengduChina Dublin Institute for Advanced Studies 31 Fitzwilliam Place2 DublinIreland max-Planck-Institut for Nuclear Physics P.O.Box 103980Heidelberg 69029Germany School of Physical Science and Technology&School of Information Science and Technology Southwest Jiaotong UniversityChengdu 610031China School of Astronomy and Space Science Nanjing UniversityNanjing 210023China Center for Astrophysics Guangzhou UniversityGuangzhou 510006China Tsung-dao Lee Institute&School of Physics and Astronomy Shanghai Jiao Tong UniversityShanghai 200240China Institute for Nuclear Research of Russian Academy of Sciences Moscow 117312Russia Hebei Normal University Shijiazhuang 050024China University of Science and Technology of China Hefei 230026China State Key Laboratory of Particle Detection and Electronics China Key Laboratory of dark matter and Space Astronomy&Key Laboratory of Radio Astronomy Purple Mountain ObservatoryChinese Academy of SciencesNanjing 210023China Research Center for Astronomical Computing Zhejiang LaboratoryHangzhou 311121China Key Laboratory for Research in Galaxies and Cosmology Shanghai Astronomical ObservatoryChinese Academy of SciencesShanghai 200030China School of Physics and Astronomy Yunnan UniversityKunming 650091China Key Laboratory of Cosmic Rays(Tibet University) Ministry of EducationLhasa 850000China National Astronomical Observatories Chinese Academy of SciencesBeijing 100101China School of Physics and Astronomy(Zhuhai)&School of Physics(Guangzhou)&Sino-French Institute of Nuclear Engineering and Technology(Zhuhai) Sun Yat-sen UniversityZhuhai 519000&Guangzhou 510275GuangdongChina Institute of Frontier and Interdisciplinary Science Shandong UniversityQingdao 266237China APC UniversitéParis Cité

Theγ-ray emission from the W51 complex is widely acknowledged to be attributed to the interaction between the cosmic rays(CRs)accelerated by the shock of supernova remnant(SNR)W51C and the dense molecular clouds in the adjacent star-forming region,***,the maximum acceleration capability of W51C for CRs remains *** on observations conducted with the Large High Altitude Air Shower Observatory(LHAASO),we report a significant detection ofγrays emanating from the W51 complex,with energies from 2 to 200 *** LHAASO measurements,for the first time,extend theγ-ray emission from the W51 complex beyond 100 TeV and reveal a significant spectrum bending at tens of *** combining the"π^(0)-decay bump"featured data from Fermi-LAT,the broadbandγ-ray spectrum of the W51 region can be well-characterized by a simple pp-collision *** observed spectral bending feature suggests an exponential cutoff at~400 TeV or a power-law break at~200 TeV in the CR proton spectrum,most likely providing the first evidence of SNRs serving as CR accelerators approaching the PeV ***,two young star clusters within W51B could also be theoretically viable to produce the most energeticγrays observed by *** findings strongly support the presence of extreme CR accelerators within the W51 complex and provide new insights into the origin of Galactic CRs.

关键词： UHE c-ray Cosmic rays SNR W51C Star clusters

NF1基因突变致1型神经纤维瘤病8例临床分析

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临床儿科杂志 2016年第11期34卷 819-824页

作者：刘妍袁裕衡马明圣王薇邱正庆中国医学科学院北京协和医学院北京协和医院儿科北京100730

目的了解1型神经纤维瘤病(NF)的临床表型特征及异质性。方法回顾分析8例NF患儿的临床及基因检测资料。结果 8例患儿中男5例、女3例,均因生后多发牛奶咖啡斑就诊,2例伴丛状神经纤维瘤,1例伴多处皮肤神经纤维瘤。8例患儿有7种突变形式,NF... 详细信息

目的了解1型神经纤维瘤病(NF)的临床表型特征及异质性。方法回顾分析8例NF患儿的临床及基因检测资料。结果 8例患儿中男5例、女3例,均因生后多发牛奶咖啡斑就诊,2例伴丛状神经纤维瘤,1例伴多处皮肤神经纤维瘤。8例患儿有7种突变形式,NF1基因全部缺失2例;4种缺失突变,分别为c.4974_4977delCTAT,p.Y1659TfsX17、c.3987_3988delaG,p.S1329fsX4、c.1511delC,p.P504QfsX22和c.6388delC,p.L2130fsX3;1种c.3975-2dela剪切突变;1种c.3721 C>T,p.R1241X无义突变。除全基因大片段缺失和无义突变之外,其余均为未报道的新突变。患儿父母外周血均未检测出相应的突变。结论 NF1基因突变可致1型NF,此研究发现5种新的突变,且均为de novo突变。多发牛奶咖啡斑是1型NF最早的临床表现,对疑似患者应尽早行基因分析确诊。

关键词： 1型神经纤维瘤病 NF1基因多发牛奶咖啡斑

间歇性低压缺氧预处理对大鼠全脑缺血/再灌注海马CA1区Ngb和Bcl-2蛋白表达的影响

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中国病理生理杂志 2013年第12期29卷 2240-2244页

作者：刘永年俞科贤马祁生吴穹青海大学医学院病理生理教研室青海西宁810001

目的:探讨间歇性低压缺氧预处理对大鼠全脑缺血/再灌注海马CA1区脑红蛋白(Ngb)和Bcl-2蛋白表达的影响。方法:将Wistar大鼠随机分为假手术组、低压缺氧预处理对照组、全脑缺血/再灌注组、低压缺氧预处理+全脑缺血/再灌注组4组,将间歇暴... 详细信息

目的:探讨间歇性低压缺氧预处理对大鼠全脑缺血/再灌注海马CA1区脑红蛋白(Ngb)和Bcl-2蛋白表达的影响。方法:将Wistar大鼠随机分为假手术组、低压缺氧预处理对照组、全脑缺血/再灌注组、低压缺氧预处理+全脑缺血/再灌注组4组,将间歇暴露于低压缺氧环境的大鼠作为低压缺氧预处理对照组。采用Pulsinelli四血管闭塞法复制大鼠全脑缺血/再灌注模型,夹闭颈总动脉造成全脑缺血8 min后再灌注。用硫堇染色法和免疫组织化学方法分别观察大鼠海马组织学改变和海马组织Ngb、Bcl-2蛋白表达变化。结果:低压缺氧预处理+全脑缺血/再灌注组大鼠海马CA1区存活细胞数较全脑缺血/再灌注组明显增加,其海马组织Ngb和Bcl-2蛋白表达量较全脑缺血/再灌注组显著升高。结论:间歇性低压缺氧预处理可能通过上调海马组织Ngb和Bcl-2蛋白的表达,减少全脑缺血再灌注后海马神经元的死亡而发挥神经保护作用。

关键词：脑缺血再灌注损伤间歇性低压缺氧脑红蛋白 Bcl-2蛋白

基于QFD、TRiz和DOE的DFSS集成模式研究

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组合机床与自动化加工技术 2007年第1期 17-20页

作者：马彦辉何桢天津大学管理学院天津300072

在六西格玛设计中,如何将顾客需求转化为可量化的设计特性是一个良好设计所必须具备的重要特征,而QFD、TR iz和DOE等都是进行六西格玛设计的重要方支撑工具。在文中首先介绍了QFD、TR iz和DOE的基础知识,然后对QFD与TR iz、QFD与DOE的... 详细信息

在六西格玛设计中,如何将顾客需求转化为可量化的设计特性是一个良好设计所必须具备的重要特征,而QFD、TR iz和DOE等都是进行六西格玛设计的重要方支撑工具。在文中首先介绍了QFD、TR iz和DOE的基础知识,然后对QFD与TR iz、QFD与DOE的集成的可能性进行了探讨,并提出了TR iz/DOE/QFD集成框架,最后通过结论对文章进行总结。

关键词：六西格玛设计质量机能展开发明问题解决理论实验设计田口方法