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神经损伤与功能重建 2021年第10期16卷 F0003-F0003页

作者： Bernadette Basilico Laura Ferrucci Patrizia Ratano Maria T Golia Alfonso Grimaldi Maria Rosito Valentina Ferretti Ingrid Reverte Caterina Sanchini Maria C Marrone Maria Giubettini Valeria De Turris Debora Salerno Stefano Garofalo Marie-Kim St-Pierre Micael Carrier Massimiliano Renzi Francesca Pagani Brijesh Modi Marcello Raspa Ferdinando Scavizzi Cornelius T Gross Silvia Marinelli Marie-Ève Tremblay Daniele Caprioli Laura Maggi Cristina Limatola Silvia Di Angelantonio Davide Ragozzino Department of Physiology and Pharmacology Sapienza University of RomeRomeItaly. Neurophysiology and Neuropharmacology Inflammaging Unit IRCCS NeuromedMediterranean Neurological InstitutePozzilliISItaly. Center for Life Nano-and Neuro-science Istituto Italiano di TecnologiaRomeItaly. Dipartimento di Biologia e Biotecnologie“Charles Darwin” Sapienza University of RomeRomeItaly. Santa Lucia Foundation(IRCCS Fondazione Santa Lucia) RomeItaly. European Brain research Institute(EBRI)‘Rita Levi-Montalcini’ RomeItaly. CrestOptics S.p.A RomeItaly. Centre de Recherche du CHU de Québec Axe Neurosciences QuébecQuebec CityCanada. Département de Médecine Moléculaire UniversitéLaval QuébecQuebec CityCanada.1 National research Council Institute of Biochemistry and Cell Biology(CNR-IBBC/EMMA/Infrafrontier/IMPC)International Campus“A.Buzzati-Traverso”Monterotondo(Rome)Italy.1 Epigenetics and neurobiology Unit European Molecular Biology Laboratory(EMBL)MonterotondoItaly.1 Division of Medical Sciences University of VictoriaVictoriaCanada.1 Department of Physiology and Pharmacology Sapienza UniversityLaboratory affiliated to Istituto Pasteur ItaliaRomeItaly.

小胶质细胞是调节大脑突触发育和可塑性的重要细胞类型,但其影响突触的正常功能的机制尚不清楚。在本研究中,我们通过PLX5622造成小胶质细胞耗竭,并观察其对成年野生型小鼠海马CA3-CA1突触的影响。在小胶质细胞耗竭后,与树突棘密度降低... 详细信息

小胶质细胞是调节大脑突触发育和可塑性的重要细胞类型,但其影响突触的正常功能的机制尚不清楚。在本研究中,我们通过PLX5622造成小胶质细胞耗竭,并观察其对成年野生型小鼠海马CA3-CA1突触的影响。在小胶质细胞耗竭后,与树突棘密度降低相关的自发和诱发谷氨酸能活动的减少,出现未成熟突触特征以及突触的可塑性提高。小胶质细胞耗竭的小鼠在新物体识别任务的获取方面表现出缺陷。海马星形胶质细胞出现增生,但并没有神经炎症反应。在Cx3cr1-/-小鼠中,PLX不能导致海马出现上述改变。这说明CX3CL1/CX3CR1轴在小胶质细胞对突触功能的控制中有重要作用。PLX5622停用后,小胶质细胞的重新增殖,海马突触恢复,小鼠的学习功能也出现恢复。综上所述,小胶质细胞对维持成人大脑的突触的正常功能用重要的作用,去除小胶质细胞会导致谷氨酸能突触组织和活动的可逆变化。

关键词：谷氨酸能传递海马体学习小胶质细胞神经元-小胶质细胞相互作用突触

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A Splicing Mutation in VPS4B Causes Dentin Dysplasia Ⅰ

A Splicing Mutation in VPS4B Causes Dentin Dysplasia Ⅰ

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Xiong Fu Yang Qi Chen Dong Chen Danna Liu Cuixian Liu Yanhui Yu Qiuxia Ye Yuhua Tian Zhihui Shan Xuan Zhang Leitao Wei Xiaofeng Zhou Wanjun Li Dongri Zhang Wenqing Xu Xiangmin Department of Medical Genetics School of Basic Medical Sciences Southern Medical University Guangdong Genetic Testing Engineering research Center School of Stomatology Zhengzhou University Department of Prenatal Diagnosis Center Maternal and Child Health Hospital Department of Stomatology Nanfang Hospital Southern Medical University Department of Developmental Biology School of Basic Medical Sciences Southern Medical University Department of Forensic Science School of Basic Medical Sciences Southern Medical University

Objective Dentin dysplasia Ⅰ(DDI) is a genetically heterogeneous autosomal-dominant disorder characterized by rootless teeth with abnormal pulpal morphology, the etiology of which presents as genetically heterogeneous and the molecular basis of which is still unclear. Method Using a cohort of a large Chinese family with 10 DDI patients, we mapped the candidate region for DDI by combining use of whole genome-wide SNP array and STR linkage analysis. And then, we analyzed the molecular mechnisem on the pathogenic gene for DDI in vivo and in vitro. Result We mapped to a 9.63 Mb candidate region for DDI on chromosome 18 q21.2-q21.33. We then identified a mutation IVS7+46 C>G which resulted in a novel donor splice site in intron 7 of the VPS4 B gene with co-segregation of all 10 affected individuals in this family. Theaberrant transcripts encompassing a new insert of 45-bp in size were detected in gingival cells from affected individuals. Protein structure prediction showed that a 15-amino acid insertion altered the ATP-binding cassette of VPS4 B. The mutation resulted in significantly reduced expression of m RNA and protein and altered subcellular localization of VPS4 B, indicating a loss of function of VPS4 B. Using human gingival fibroblasts, the VPS4 B gene was found to act as an upstream transducer linked to Wnt/beta-catenin signaling and regulating odontogenesis. Furthermore, knock-down of vps4 b in zebrafish recapitulated the reduction of tooth size and absence of teeth similar to the tooth phenotype exhibited in DDI index cases, and the zebrafish mutant phenotype could be partially rescued by wild-type human VPS4 B m RNA. We also observed that vps4 b depletion in the zebrafish negatively regulates the expression of some major genes involved in odontogenesis. Conclusion The study identifies VPS4 B as a disease-causing gene for DDI, which is one of the important contributors to tooth formation through the Wnt/beta-catenin signaling pathway.

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Bioresorbable Multilayer Photonic Cavities as Temporary Implants for Tether-Free Measurements of Regional Tissue Temperatures

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Biomedical Engineering Frontiers 2021年第1期2卷 89-102页

作者： Wubin Bai Masahiro Irie Zhonghe Liu Haiwen Luan Daniel Franklin Khizar Nandoliya Hexia Guo Hao Zang Yang Weng Di Lu Di Wu Yixin Wu Joseph Song Mengdi Han Enming Song Yiyuan Yang Xuexian Chen Hangbo Zhao Wei Lu Giuditta Monti Iwona Stepien Irawati Kandela Chad R.Haney Changsheng Wu Sang Min Won Hanjun Ryu Alina Rwei Haixu Shen Jihye Kim Hong-Joon Yoon Wei Ouyang Yihan Liu Emily Suen Huang-yu Chen Jerry Okina Jushen Liang Yonggang Huang Guillermo A.Ameer Weidong Zhou John A.Rogers Department of Materials Science and Engineering Northwestern UniversityEvanstonIllinois 60208USA Querrey Simpson Institute for Bioelectronics Northwestern UniversityEvanstonIllinois 60208USA Department of Electrical Engineering University of Texas at ArlingtonArlingtonTX 76019USA Department of Mechanical Engineering Northwestern UniversityEvanstonIllinois 60208USA Department of Chemistry Northwestern UniversityEvanstonIllinois 60208USA Department of Biomedical Engineering Northwestern UniversityEvanstonIllinois 60208USA Department of Materials Science and Engineering University of Illinois Urbana-ChampaignUrbanaIllinois 61801USA Academy for Advanced Interdisciplinary Studies Peking UniversityBeijingChina Department of Aerospace and Mechanical Engineering University of Southern CaliforniaLos AngelesCA 90089USA The Center for Developmental Therapeutics Northwestern UniversityEvanstonIllinois 60208USA Center for Advanced Molecular Imaging Northwestern UniversityEvanstonIllinois 60208USA Department of Electrical and Computer Engineering Sungkyunkwan UniversitySuwonRepublic of Korea School of Advanced Materials Science and Engineering Sungkyunkwan University(SKKU)Suwon 16419Republic of Korea Department of neurobiology Northwestern UniversityEvanstonIllinois 60208USA Department of Chemical Engineering Northwestern UniversityEvanstonIllinois 60208USA Department of Civil and Environmental Engineering Northwestern UniversityEvanstonIllinois 60208USA Department of Electrical Engineering and Computer Science Northwestern UniversityEvanstonIllinois 60208USA Northwestern Medicine Feinberg School of MedicineNorthwestern UniversityEvanstonIllinois 60208USA Center for Advanced Regenerative Engineering Northwestern UniversityEvanstonIllinois 60208USA

Objective and Impact ***-time monitoring of the temperatures of regional tissue microenvironments can serve as the diagnostic basis for treating various health conditions and *** thermal sensors allow measurements at surfaces or at near-surface regions of the skin or of certain body *** at depth require implanted devices connected to external readout electronics via physical interfaces that lead to risks for infection and movement constraints for the ***,surgical extraction procedures after a period of need can introduce additional risks and ***,we report a wireless,bioresorbable class of temperature sensor that exploits multilayer photonic cavities,for continuous optical measurements of regional,deep-tissue microenvironments over a timeframe of interest followed by complete clearance via natural body *** designs decouple the influence of detection angle from temperature on the reflection spectra,to enable high accuracy in sensing,as supported by in vitro experiments and optical *** with devices implanted into subcutaneous tissues of both awake,freely moving and asleep animal models illustrate the applicability of this technology for in vivo *** results demonstrate the use of bioresorbable materials in advanced photonic structures with unique capabilities in tracking of thermal signatures of tissue microenvironments,with potential relevance to human healthcare.

关键词： signature constraints multilayer

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An Important Pool of Sucrose Linked to Starch Biosynthesis is Taken up by Endocytosis in Heterotrophic Cells

An Important Pool of Sucrose Linked to Starch Biosynthesis i...

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The Second International Symposium on Plant neurobiology

作者： Edurne Baroja-Fernandez Ed Etxeberria Francisco José Muoz María Teresa Morán-Zorzano Nora Alonso-Casajús Pedro Gonzalez Javier Pozueta-Romero Agrobioteknologia Instituta Nafarroako Unibertsitate Publikoa Gobierno de Navarra and Consejo Superior de Investigations CientificasMutiloako etorbidea zenbaki gabe31192 MutiloabetiNafarroaSpain University of Florida IFAS Citrus Research and Education Center700 Experiment Station RoadLake Alfred FL33850USA Agrobioteknologia Instituta Nafarroako Unibertsitate Publikoa Gobierno de Navarra and Consejo Superior de Investigations CientificasMutiloako etorbidea zenbaki gabe31192 MutiloabetiNafarroaSpain Agrobioteknologia Instituta Nafarroako Unibertsitate Publikoa Gobierno de Navarra and Consejo Superior de Investigations CientificasMutiloako etorbidea zenbaki gabe31192 MutiloabetiNafarroaSpain Agrobioteknologia Instituta Nafarroako Unibertsitate Publikoa Gobierno de Navarra and Consejo Superior de Investigations CientificasMutiloako etorbidea zenbaki gabe31192 MutiloabetiNafarroaSpain University of Florida IFAS Citrus Research and Education Center700 Experiment Station Road Lake Alfred FL33850USA Agrobioteknologia Instituta Nafarroako Unibertsitate Publikoa Gobierno de Navarra and Consejo Superior de Investigaciones CientificasMutiloako etorbidea zenbaki gabe31192 MutiloabetiNafarroaSpain

＜正＞We have recently shown the occurrence of endocytic sucrose uptake in heterotrophic cells （Etxeberria et al. Plant Cell Physiol. 46, 474-481）. Whether this mechanism is involved in the sucrose-starch conversion process was investigated by comparing the rates of starch accumulation in sycamore cells cultured in the presence or absence of the endocytic inhibitors wortmannin and LY294002. These analyses revealed a two-phase process involving an initial 120 min wortmannin- and

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钙信号相关光遗传学工具开发及其在神经生物学中的应用

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中国科学：生命科学 2022年第8期52卷 1173-1183页

作者：王刘清何涟 Yubin Zhou 王友军北京师范大学生命科学学院抗性基因资源与分子发育北京市重点实验室北京100875 南方科技大学医学院药理学系深圳518055 Center for Translational Cancer research Institute of Biosciences and TechnologyTexas A&M UniversityHoustonTXUSA 北京师范大学生命科学学院细胞增殖及调控生物学教育部重点实验室北京100875

神经元通过动作电位及突触传递来使动物对内外刺激做出快速而准确的反应.钙信号通过介导或调控上述生理过程,成为神经元活动的标志.凭借高度的时空特异性,光遗传学成为探究神经元钙信号的一种理想手段.近年来,基于一系列光敏蛋白所开发... 详细信息

神经元通过动作电位及突触传递来使动物对内外刺激做出快速而准确的反应.钙信号通过介导或调控上述生理过程,成为神经元活动的标志.凭借高度的时空特异性,光遗传学成为探究神经元钙信号的一种理想手段.近年来,基于一系列光敏蛋白所开发出的光控钙信号工具,在不断完善和改进下,被成功地应用于神经生物学研究中.利用这些工具在多种模式动物中进行了低损伤性的光遗传学操作,实现了从神经元钙信号到动物记忆及行为的光操纵,体现了这类工具巨大的潜在应用价值.本文总结了钙信号相关光遗传学工具的最新研究进展,介绍了不同光控钙信号工具的设计原理及其在神经生物学中的应用,并对后续发展进行了展望.

关键词：神经元钙信号光遗传学遗传编码的钙信号操纵工具

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Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability

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四川生理科学杂志 2022年第7期44卷 1316-1316页

作者： Taejeong Bae Department of Quantitative Health Sciences Center for Individualized Medicine Mayo Clinic Rochester MN USA Child Study Center Yale University New Haven CT USA Lieber Institute for Brain Development Johns Hopkins Medical Campus Baltimore MD USA Department of Neurology Johns Hopkins School of Medicine Baltimore MD USA Division of Genetics and Genomics and Howard Hughes Medical Institute Boston Children’s Hospital Boston MA USA Department of Pediatrics and Department of Neurology Harvard Medical School Boston MA USA Department of Psychiatry and behavioral Sciences and Department of Genetics Stanford University School of Medicine Stanford CA USA Department of Psychiatry and behavioral neurobiology University of Alabama at Birmingham Birmingham AL USA Department of Pathology Yale University New Haven CT USA Lieber Institute for Brain Development Johns Hopkins Medical Campus Baltimore MD USA Department of Psychiatry and behavioral Sciences Johns Hopkins School of Medicine Baltimore MD USA Lieber Institute for Brain Development Johns Hopkins Medical Campus Baltimore MD USA Department of Neurology Johns Hopkins School of Medicine Baltimore MD USA Department of Psychiatry and behavioral Sciences Johns Hopkins School of Medicine Baltimore MD USA Lieber Institute for Brain Development Johns Hopkins Medical Campus Baltimore MD USA Department of Pediatrics and Department of Neurology Harvard Medical School Boston MA USA Department of Neurology Johns Hopkins School of Medicine Baltimore MD USA Department of Psychiatry and behavioral Sciences Johns Hopkins School of Medicine Baltimore MD USA Department of Genetic Medicine Johns Hopkins School of Medicine Baltimore MD USA Department of Neuroscience Johns Hopkins School of Medicine Baltimore MD USA Department of Neuroscience Yale University New Haven CT USA

We analyzed 131 human brains (44 neurotypical, 19 with Tourette syndrome, 9 with schizophrenia, and 59 with autism) for somatic mutations after whole genome sequencing to a depth of more than 200×. Typically, brains had 20 to 60 detectable single-nucleotide mutations, but ~6% of brains harbored hundreds of somatic mutations. Hypermutability was associated with age and damaging mutations in genes implicated in cancers and, in some brains, reflected in vivo clonal expansions. Somatic duplications, likely arising during development, were found in ~5% of normal and diseased brains, reflecting background mutagenesis.

关键词： brains hundreds likely

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Characterization and Development of Novel Small-molecules inhibiting GSK3 and activating Wnt signaling

Characterization and Development of Novel Small-molecules in...

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第六届全国化学生物学学术会议

作者：仲寒冰邹海霞 Mikhail V.Semenov Deborah Moshinsky 李松全军民杨震林硕化学基因组学实验室化学生物学和生物技术学院北京大学深圳研究生院深圳大学城 Department of Molecular Celland Developmental BiologyUniversity of CaliforniaLos AngelesLos AngelesCAUSA Children's Hospital Boston BostonMAUSA Pfizer research Technology Center CambridgeMAUSA Shenzhen Shengjie Bio-Tech Co.Ltd Shenzhen Department of Molecular Celland Developmental BiologyUniversity of CaliforniaLos AngelesLos AngelesCAUSA

＜正＞Glycogen synthase kinase 3（GSK3） is an essential component of Wnt signaling pathway and plays important roles in regulating cell proliferation,differentiation,and *** GSK3 is abnormally up-regulated in several diseases including typeⅡdiabetes,Alzheimer’s disease and cancer,it has been regarded as a potential drug *** zebrafish development,inhibition of GSK3 leads to ectopic

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