A brain somatic RHEB doublet mutation causes focal cortical dysplasia type II

Shanshan Zhao,Zhenghui Li,Muxian Zhang,Lingliang Zhang,Honghua Zheng,Jinhuan Ning,Yanyan Wang,Feng-Peng Wang,Xiaobin Zhang,Hexia Gan,Yuanqing Wang,Xian Zhang,Hong Luo,Guojun Bu,Huaxi Xu,Yi Yao,Yun-wu 생화학분자생물학회 2019 Experimental and molecular medicine Vol.51 No.-

Focal cortical dysplasia type II (FCDII) is a cerebral cortex malformation characterized by local cortical structure disorganization, neuronal dysmorphology, and refractory epilepsy. Brain somatic mutations in several genes involved in the PI3K/AKT/mTOR pathway are associated with FCDII, but they are only found in a proportion of patients with FCDII. The genetic causes underlying the development FCDII in other patients remain unclear. Here, we carried out whole exome sequencing and targeted sequencing in paired brain–blood DNA from patients with FCDII and identified a brain somatic doublet mutation c.(A104T, C105A) in the Ras homolog, mTORC1 binding (RHEB) gene, which led to the RHEB p.Y35L mutation in one patient with FCDII. This RHEB mutation carrier had a dramatic increase of ribosomal protein S6 phosphorylation, indicating mTOR activation in the region of the brain lesion. The RHEB p.Y35L mutant protein had increased GTPλS-binding activity compared with wild-type RHEB. Overexpression of the RHEB p. Y35L variant in cultured cells also resulted in elevated S6 phosphorylation compared to wild-type RHEB. Importantly, in utero electroporation of the RHEB p.Y35L variant in mice induced S6 phosphorylation, cytomegalic neurons, dysregulated neuron migration, abnormal electroencephalogram, and seizures, all of which are found in patients with FCDII. Rapamycin treatment rescued abnormal electroencephalograms and alleviated seizures in these mice. These results demonstrate that brain somatic mutations in RHEB are also responsible for the pathogenesis of FCDII, indicating that aberrant activation of mTOR signaling is a primary driver and potential drug target for FCDII.

Real‑time grid parameter estimation with grid‑forming converters for robust synchronous power control

Shanshan Zhao,Seung-Ki Sul 전력전자학회 2024 JOURNAL OF POWER ELECTRONICS Vol.24 No.1

The control system design of grid-forming (GFM) converters requires prior knowledge of grid parameters such as grid impedance, grid equivalent electromagnetic force (EMF), and short-circuit ratio (SCR), which are normally time-variant and preferably estimated in real time. However, existing estimation methods are either unable to estimate multiple parameters simultaneously or involve complex calculation algorithms for nonintrusive estimations. To address this issue, this study proposes a real-time grid parameter estimation method for GFM converters. Without introducing disturbances into the system, multiple parameters can be simultaneously estimated during the transient state with a simple algorithm, while the effects of the virtual impedance of the GFM converter and the output filter are both considered. In addition, a parameter estimation-based adaptive synchronous power control (SPC) is proposed, which exhibits improved dynamic performance and enhanced robustness of the GFM converter under various grid conditions. The validity of the proposed method is verified by simulation and hardware-in-loop-simulation (HILS) results.

Evaluation of thermal comfort in air-conditioned rooms based on structure/control-related parameters and data-mining method

Zhao Shunan,He Lin,Wu Xin,Xu Guowen,Xie Junlong,Cai Shanshan 대한설비공학회 2023 International Journal of Air-Conditioning and Refr Vol.31 No.1

Evaluating the thermal environment and thermal comfort in an air-conditioned room is an essential for estimating the performance of air-conditioning systems. However, multiple component structures and control-related parameters often lead to a long test cycle and large number of tests, significantly affecting the testing efficiency and speed. To address these problems, in this study, a data-mining method was proposed to predict and evaluate the thermal environment of an air-conditioned room. Owing to the limited amount of experimental data, the sample data were expanded by the simulation data of a collaborative platform between the air-conditioning system and air-conditioned room. Data-mining models, including the support vector regression (SVR), backpropagation (BP), and multiple linear regression (MLR) models, were developed and achieved good accuracy in evaluating the thermal environment by considering air-conditioning systems with various structures and control parameters. In the multiple-input single-output evaluation method, the prediction accuracy of the SVR model was higher than those of the BP and MLR models with respect to the vertical air temperature difference, temperature uniformity, temperature drop rate, and draft rate, while the result was the opposite in terms of the predicted mean vote indices. In the multiple-input multiple-output evaluation method, there was a decline in prediction accuracy and an increase in efficiency prediction compared with multiple-input single-output evaluation.

Global Asymptotic Control for Uncertain Stochastic Time-delay Systems with Unmodeled Dynamics

Qianjin Zhao,Shanshan Xiang,Xiaobo Li,Jian Wu 제어·로봇·시스템학회 2023 International Journal of Control, Automation, and Vol.21 No.3

This paper considers the global adaptive regulation by dynamic partial state feedback method for a class of uncertain stochastic time-delay cascade system with asymmetric structure and nonlinear parameterization. The global asymptotic stability can be achieved under input-to-state stability (ISS) like the condition based on the zerodynamics with time delay. The partial state adaptive control scheme with a delay-independent has been developed by employing the adaptive feedback domination design. By constructing suitable Lyapunov-Krasovskii functionals, it is proven that all the states of the closed-loop system signals can be regulated to the origin. Meanwhile, the boundedness of the closed-loop system signals is kept. Simulation results further demonstrate the effectiveness of the proposed method.

Bartonella rochalimae, B. grahamii, B. elizabethae, and Wolbachia spp. in Fleas from Wild Rodents near the China-Kazakhstan Border

Xiaoping Yin,Shanshan Zhao,Bin Yan,Yanhe Tian,Teer Ba,Jiangguo Zhang,Yuanzhi Wang 대한기생충학ㆍ열대의학회 2019 The Korean Journal of Parasitology Vol.57 No.5

The Alataw Pass, near the Ebinur Lake Wetland (northwest of China) and Taldykorgan (east of Kazakhstan), is a natural habitat for wild rodents. To date, little has been done on the surveillance of Bartonella spp. and Wolbachia spp. from fleas in the region. Here we molecularly detected Bartonella spp. and Wolbachia spp. in wild rodent fleas during January and October of 2016 along the Alataw Pass-Kazakhstan border. A total of 1,706 fleas belonging to 10 species were collected from 6 rodent species. Among the 10 flea species, 4 were found to be positive for Wolbachia, and 5 flea species were positive for Bartonella. Molecular analysis indicated that i) B. rochalimae was firstly identified in Xenopsylla gerbilli minax and X. conforms conforms, ii) B. grahamii was firstly identified in X. gerbilli minax, and iii) B. elizabethae was firstly detected in Coptopsylla lamellifer ardua, Paradoxopsyllus repandus, and Nosopsyllus laeviceps laeviceps. Additionally, 3 Wolbachia endosymbionts were firstly found in X. gerbilli minax, X. conforms conforms, P. repandus, and N. laeviceps laeviceps. BLASTn analysis indicated 3 Bartonella species showed genotypic variation. Phylogenetic analysis revealed 3 Wolbachia endosymbionts were clustered into the non-Siphonaptera Wolbachia group. These findings extend our knowledge of the geographical distribution and carriers of B. rochalimae, B. grahamii, B. elizabethae, and Wolbachia spp. In the future, there is a need for China-Kazakhstan cooperation to strengthen the surveillance of flea-borne pathogens in wildlife.

Research on Drug Retail Surveillance and Management System Concerned with Adverse Drug Reaction

Zhang Qinghua,Zhao Shanshan,Wang Zhuan,Cheng Guoquan,Wei Jun,Hu Haiqin 제어로봇시스템학회 2009 제어로봇시스템학회 국제학술대회 논문집 Vol.2009 No.8

Drug security is very important to people. The adverse drug reaction events happened several times these years. The drug retail record should be monitored to prevent drug security event occur. There should be a system to monitor the drug stores to find out which one is selling the outdated drugs, or selling the drugs that have no license agreement. When drug security event occurred, the retail information can be used to find out the customer who bought the drug, where and how much the drug left in the drug stores. The solution and measures such as drug recycle or going to hospital should be carried out according to the retail information from the terminal market. This paper brings out a drug retail tracking and tracing solution system. With this system, drug retail information can be real-time obtained. The information supports the decision to solve the adverse drug reaction events.

Expression and Distribution of the Guanine Nucleotide-binding Protein Subunit Alpha-s in Mice Skin Tissues and Its Association with White and Black Coat Colors

Yin, Zhihong,Zhao, Xin,Wang, Zhun,Li, Zhen,Bai, Rui,Yang, Shanshan,Zhao, Min,Pang, Quanhai Asian Australasian Association of Animal Productio 2016 Animal Bioscience Vol.29 No.10

Guanine nucleotide-binding protein subunit alpha-s ($Gn{\alpha}s$) is a small subunit of the G protein-couple signaling pathway, which is involved in the formation of coat color. The expression level and distribution of $Gn{\alpha}s$ were detected by quantitative real-time-polymerase chain reaction (qPCR), western blot, and immunohistochemistry to investigate the underlying mechanisms of coat color in white and black skin tissues of mice. qPCR and western blot results suggested that $Gn{\alpha}s$ was expressed at significantly higher levels in black mice compared with that of white mice, and transcripts and protein possessed the same expression in both colors. Immunohistochemistry demonstrated $Gn{\alpha}s$ staining in the root sheath and dermal papilla in hair follicle of mice skins. The results indicated that the $Gn{\alpha}s$ gene was expressed in both white and black skin tissues, and the expression level of $Gn{\alpha}s$ in the two types of color was different. Therefore, $Gn{\alpha}s$ may be involved in the coat color formation in mice.

汉语“血”与韩语“피”的语义扩张对比研究 ― 基于隐喻、转喻、隐转喻的分析

罗兹深 ( Luo¸ Zishen ),赵姗姗 ( Zhao¸ Shanshan ) 한국중국언어학회 2023 중국언어연구 Vol.- No.107

人体词作为“元概念”, 在人类语言的语义扩张中普遍存在, 并发挥着举足轻重的作用。在不同语言之间, 人体词的语义扩张既存在共性, 又蕴含个性。本文以学界关注较少的人体词“血/피”为研究对象, 结合其词典释义和语料库中的相关语料, 从认知语言学的隐喻、转喻以及隐转喻三个角度, 分析汉语“血”和韩语“피”的语义扩张, 进而对比得出两者语义扩张的共性和个性。研究发现:在共性方面, 两者语义扩张形成的引申义大同小异, 且两者语义扩张有着相同的扩张方向、扩张机制、扩张基础;在个性方面, 两者语义扩张中各自存在独有的引申义, 而且汉语“血”的语义扩张相比韩语“피”更为丰富、活跃, 并存在词的兼类现象。 As “meta-concepts”, body-part terms exist universally and play an important role in the semantic expansion of language. In different languages, the semantic expansion of body-part terms has both commonality and individuality. This paper takes the body-part term “血/피” which has received little attention in academic circle as the research object, combines dictionary definition and relevant corpus to analyze the semantic expansion of Chinese “血” and Korean “피” from the perspective of metaphor, metonymy and metaphtonymy in cognitive linguistics, and finds the commonality and individuality of their semantic expansion by comparison. The study finds that in the aspect of commonality, the extended meanings formed by semantic extension of “血” and “피” are largely similar, and the semantic extension of the two has the same expansion direction, mechanism and basis; in terms of individuality, each of them has its own extended meaning, and the semantic extension of Chinese “血” is richer and more active than that of Korean “피”, and there is multiple class membership in the semantic extension of Chinese “血”.

A transcriptional atlas of the silk gland in Antheraea pernyi revealed by IsoSeq

Duan Jianping,Li Shanshan,Zhang Zhengtian,Yao Lunguang,Yang Xinfeng,Ma Sanyuan,Duan Nini,Wang Jiazhen,Zhu Xuwei,Zhao Ping 한국응용곤충학회 2023 Journal of Asia-Pacific Entomology Vol.26 No.2

Silk fibers spun by the silk gland of Antheraea pernyi have many unique properties and are of great value in genetic improvement and non-traditional applications. However, the complete transcriptional landscape and accurate genic annotation of the silk gland are yet to be conducted, which limits related studies on this organ. In this study, isoform sequencing revealed the full-length transcriptome of the A. pernyi silk gland, producing 12,572 high-confidence isoforms from 7,658 genes, among which more than 40 % of genes have not yet been annotated in the reference genome. Moreover, approximately 9 % of isoforms are computationally identified as long non-coding RNAs (lncRNAs). Up to 1,492 alternative splicing (AS) and 3,068 alternative polyadenylation (APA) events were revealed within this transcriptome. In addition, 2,569 putative transcription factors (TFs) belonging to 68 different families were first identified in A. pernyi genome, including 871 TFs in silk gland, and some TF families have undergone expansion or contraction. This study significantly improve our knowledge of the genes expressed in the silk gland of A. pernyi and provide a valuable resource for the in-depth study of silk protein synthesis and spinning, genetic improvement, and non-traditional applications in A. pernyi.

Enhanced activity and stability of the monolithic Pt/SiO2–Al2O3 diesel oxidation catalyst promoted by suitable tungsten additive amount

Yanli Liang,Ming Zhao,Jianli Wang,Mengmeng Sun,Shanshan Li,Yufen Huang,Lin Zhong,Maochu Gong,Yaoqiang Chen 한국공업화학회 2017 Journal of Industrial and Engineering Chemistry Vol.54 No.-

A series of the modified Pt/SiO2–Al2O3 diesel oxidation catalysts with different WO3 loading were prepared through co-impregnation method. With an optimum additive loading of 2 wt% WO3, the catalyst significantly improved the performance and its stability. Compared to the free-tungsten sample, the catalyst increased the maximum conversion of NO by 5–10% and decreased the reaction temperature for 30% NO conversion by 7–28 C. It was found that there exist the electron and structure interaction between platinum and tungsten species. The interactions can generate and maintain more Pt sites in metallic state for the catalytic oxidation with enhanced activity and stability.