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| 1 | Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease显示文摘Marfan syndrome(MFS) is a systemic connective tissue disease principally affecting the ocular, skeletal and cardiovascular systems. This autosomal dominant disorder carries a prevalence of 1:3,000 to 1:5,000. This study aims to define the mutational spectrum of MFS related genes in Chinese patients and to establish genotype-phenotype correlations in MFS. Panel-based targeted next-generation sequencing was used to analyze the FBN1, TGFBR1 and TGFBR2 genes in 123 unrelated Chinese individuals with MFS or a related disease. Genotype-phenotype correlation analyses were performed in mutation-positive patients. The results showed that 97 cases/families(78.9%;97/123) harbor at least one(likely) pathogenic mutation, most of which were in FBN1;four patients had TGFBR1/2 mutations;and one patient harbored a SMAD3 mutation. Three patients had two FBN1 mutations, and all patients showed classical MFS phenotypes. Patients with a dominant negative-FBN1 mutation had a higher prevalence of ectopia lentis(EL). Patients carrying a haploinsufficiency-FBN1 mutation tended to have aortic dissection without EL. This study extends the spectrum of genetic backgrounds of MFS and enriches our knowledge of genotype-phenotype correlations. | Jiacheng Li Chaoxia Lu Wei Wu Yaping Liu Rongrong Wang Nuo Si Xiaolu Meng Shuyang Zhang Xue Zhang | 2019 | Science China(Life Sciences)2019，62，12： | 4 |
| 2 | The mechanism of dentine hypersensitivity:Stimuli-induced directional cation transport through dentinal tubules显示文摘Dentine hypersensitivity is an annoying worldwide disease,yet its mechanism remains unclear.The long-used hydrodynamic theory,a stimuli-induced fluid-flow process,describes the pain processes.However,no experimental evidence supports the statements.Here,we demonstrate that stimuli-induced directional cation transport,rather than fluid-flow,through dentinal tubules actually leads to dentine hypersensitivity.The in vitro/in vivo electro-chemical and electro-neurophysiological approaches reveal the cation current through the nanoconfined negatively charged dentinal tubules coming from external stimuli(pressure,pH,and temperature)on dentin surface and further triggering the nerve impulses causing the dentine hypersensitivity.Furthermore,the cationic-hydrogels blocked dentinal tubules could significantly reduce the stimuli-triggered nerve action potentials and the anionhydrogels counterpart enhances those,supporting the cation-flow transducing dentine hypersensitivity.Therefore,the inspired ion-blocking desensitizing therapies have achieved remarkable pain relief in clinical applications.The proposed mechanism would enrich the basic knowledge of dentistry and further foster breakthrough initiatives in hypersensitivity mitigation and cure. | Nuo Chen Jingjing Deng Shengjie Jiang Xiang-Yu Kong Teng Zhou Kai Zhao Zuohui Xiao Huimin Zheng Weipeng Chen Congcong Zhu Xinyu Liu Liping Wen Yan Wei Xuliang Deng Lei Jiang | 2023 | Nano Research2023，16，1： | 2 |
| 3 | Epigenetics effect on pathogenesis of thyroid-associated ophthalmopathy显示文摘Thyroid-associated ophthalmopathy(TAO)is an autoimmune disease.Recent studies have found the aberrant epigenetics in TAO,including DNA methylation,noncoding RNAs,and histone modification.Many genes have an aberrant level of methylation in TAO.For example,higher levels are found in CD14,MBP,ANGLE1,LYAR and lower levels in DRD4 and BOLL.Non-coding RNAs are involved in the immune response(miR-146a,miR-155,miR-96,miR-183),fibrosis regulation(miR-146a,miR-21,miR-29),adipogenesis(miR-27)and are thought to play roles in TAO.MicroRNA is also related to the clinical activity score(miR-Let7d-5p)and may be a predictor of glucocorticoid therapy(miR-224-5p).The quantities of H4 in TAO are increased compared with euthyroid control subjects,and the role of histone modifications in Graves*disease may lead to better understanding of its role in TAO.More studies are needed to explain the role of epigenetics in TAO and provide potential therapeutic strategies. | Jia-Min Cao Nuo Wang Shi-Ying Hou Xin Qi Wei Xiong | 2021 | International Journal of Ophthalmology(English edition)2021，14，9： | 2 |
| 4 | RNA interference?mediated targeting of DKK1 gene expression in Ishikawaendometrial carcinoma cells causes increased tumor cell invasion and migration显示文摘 | Nuo Yi Qin?Ping Liao Zhen?Hua Li Bao?Jiang Xie Yu?Hong Hu Wei Yi Min Liu | 2013 | Oncology Letters2013，，3： | 1 |
| 5 | Three-dimensional localization algorithm of wireless sensor networks base on particle swarm optimization显示文摘 | WEI Nuo GUO Qiang SHU Minglei | 2012 | Journal of China Universities of Posts and Telecommunications2012，19，2： | 1 |
| 6 | Study on Compound Effect of Bonded Magnets显示文摘The compound effect of Nd2Fe14B/Fe3B-Ferrite bonded magnets was studied.The result shows that the value ofβjHC obviously decreases with the ferrite content increasing.In addition, a functional relation between magnetic properties and ferrite content was clearly revealed by the physical relation in the magnetic powders. | Chang Ying Ma Nuo Yu xiaojun Li Wei Liu Changsheng Lian Fazeng | 2004 | Journal of Rare Earths2004，22，z1： | 1 |
| 7 | Weight Selection and PSO based Three-Dimensional Localization forWireless Sensor Networks显示文摘 | LvJialiang Wang Yinglong Cui Huanqing Wei Nuo | 2013 | International Conference on Computer Science Electronics Technology and Automation2013，427，429： | 1 |
| 8 | Nano-scaled transistor reliability characterization at nano-second regime显示文摘Dear editor,In recent years,novel MOSFET structures such as fullydepleted silicon-on-insulator(FDSOI)MOSFET and FinFET are adopted by the industry for their excellent electrostatic behavior and higher on-state current per footprint.Nevertheless,these novel structured transistors suffer from severe self-heating effects(SHE)owing to the more heat generation but lower thermal conductivity of the ultrathin Si channel[1]. | Ran CHENG Ying SUN Yiming QU Wei LIU Fanyu LIU Jianfeng GAO Nuo XU Bing CHEN | 2021 | Science China(Information Sciences)2021，64，10： | 0 |
| 9 | Advances in electrolyte safety and stability of ion batteries under extreme conditions显示文摘Electric vehicles have been promoted worldwide due to fast-charge technology of ion batteries.However,ion batteries’capacity and cycle life severely decay under extreme conditions,which is mostly related to electrolyte conductivity drop and side reactions.This review highlights the safety and stability of ion batteries in terms of thermal stability,non-flammability,low-temperature,and so on,outlining the disadvantages of organic liquid electrolyte,and summarizing effective solutions of polymer electrolytes,solid-state electrolytes,ionic liquid electrolytes,and aqueous electrolytes for the batteries.Moreover,the outlook on the electrolytes is put forward,which is available for research and development of the next generation batteries. | Zhuo Chen Keliang Wang Pucheng Pei Yayu Zuo Manhui Wei Hengwei Wang Pengfei Zhang Nuo Shang | 2023 | Nano Research2023，16，2： | 0 |
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