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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.
Zheng-Xi Zhang,Kun Feng,Xian-Jin Sui,Wen-Shu Wang,Lin Wang,Dong-Hong Wang,Xiao-Min Luo,Xiao-Fei Chen 대한약학회 2018 Archives of Pharmacal Research Vol.41 No.12
Four new acylated triterpene glycosides with aliphatic chains (4–7) as well as five known triterpenoids were isolated from the flower buds of Staphylea bumalda with bioassay guidance. Their structures were determined on the basis of spectral techniques, including IR, 1D and 2D NMR, and HR-APCI-MS. Most compounds (except 8) were isolated from S. bumalda for the first time. Additionally, the neuroprotective effects of 1 and 4–9 on suckling rat primary cultured hippocampal neurons against H2O2-induced injury were evaluated in vitro. The four new triterpenoids (4–7) showed neuroprotective effects, which increased the cell viability to over 74% at different concentrations, which was higher than the negative control (59%), while compounds 1 and 8–9 exhibited cytotoxic activity.
RPSA Gene Mutants Associated with Risk of Colorectal Cancer among the Chinese Population
Zhang, Shan-Chun,Jin, Wen,Liu, Hui,Jin, Ming-Juan,Chen, Ze-Xin,Ding, Zhe-Yuan,Zheng, Shuang-Shuang,Wang, Li-Juan,Yu, Yun-Xian,Chen, Kun Asian Pacific Journal of Cancer Prevention 2013 Asian Pacific journal of cancer prevention Vol.14 No.12
The primary aim of this study was to evaluate the relationship of single nucleotide polymorphisms (SNPs) in ribosomal protein SA (RPSA) gene with colorectal cancer (CRC). A case-control study including 388 controls and 387 patients with CRC was conducted in a Chinese population. Information about socio-demography and living behavior factors was collected by a structured questionnaire. Three SNPs (rs2133579, rs2269349, rs7641291) in RPSA gene were genotyped by Illumina SnapShot method. Multiple logistic regression models were used for assessing the joint effects between tea consumption and SNPs on CRC. The subjects with rs2269349 CC genotype had a decreased risk for CRC (OR=0.60; 95%CI = 0.37-0.99), compared with TT/CT genotype after adjustment for covariates. A similar association of rs2269349 with rectal cancer was observed (OR=0.49; 95%CI=0.24-1.00). Further analyses indicated that this SNP could modify the protective effect of tea drinking on CRC. Among the subjects with rs2269349 TT/CT or rs2133579 AA/GA, there was a marginal significantly lower risk of CRC (OR and 95%CI: 0.63 and 0.39-1.01 for rs2269349; 0.64 and 0.40-1.02 for rs2133579) in tea-drinking subjects in comparison to non-tea-drinking subjects. Mutants in the RPSA gene might be associated with genetic susceptibility to CRC and influence the protective effect of tea consumption in the Chinese population.
Zhang Jianyun,Fang Huiyong,Jiang Jianming,Gu Xian,Zhao Huimei,Qiu Jinmiao,Wang Qian,Zheng Yuguang,Zheng Kaiyan 한국식물생명공학회 2024 Plant biotechnology reports Vol.18 No.1
Exogenous 24-epibrassinolide (24-epiBL) application is a preferred method for improving salt tolerance in plants. However, information about the effects of exogenous 24-epiBL application related to salt response in Atractylodes macrocephala Koidz. (AMK) has rarely been reported. Here, we aimed to investigate the effects of exogenous 24-epiBL (0.01 mg L−1) on enhancing salt tolerance in AMK seedlings under salt stress (5 g L−1 NaCl) based on seed germination experiments. Our results indicated that NaCl treatment suppresses AMK seed germination, while 24-epiBL treatment under nonstress and stress conditions had positive effects on plant seedling growth. Treatment with NaCl significantly inhibited radicle elongation and root activity to endure salt stress, and 24-epiBL treatment promoted growth and alleviated the damage to osmotic stress, ion stress sub- stances, and oxidative stress by regulating free proline (Pro) and soluble protein (SP) contents and enhancing soluble sugar (SS) conversion. Moreover, the expression of normal development process genes was affected, and differentially expressed genes (DEGs) in multiple pathways associated with amino acid metabolism, signal transduction, carbohydrate metabolism, and lipid metabolism were regulated under NaCl treatment. Further analysis of the AMK transcriptome profile revealed that exogenous 24-epiBL enhanced salt tolerance through hormone regulation and carbohydrate metabolism promotion, salt- responsive gene expression inhibition, and induction of pathways related to terpenoid and polyketide metabolism as well as pentose and glucuronate interconversions for plant growth promotion. Collectively, our findings successfully demonstrate that exogenous 24-epiBL plays a positive role in regulating the AMK response to salt stress, which provides potential genetic resources to improve salt tolerance in plants.
Zhong-Xian Lu,Xiao-Ping Yu,Jian-Ming Chen,Xu-Song Zheng,Hong-Xing Xu,Jue-Feng Zhang Zhang,Lie-Zhong Chen 한국응용곤충학회 2004 Journal of Asia-Pacific Entomology Vol.7 No.3
Abundance of the yeast-like symbiote (YLS) in brown planthopper (BPH), Nilaparvata lugens Stl, collected from rice fields in China and obtained from International Rice Research Institute (IRRI), was monitored. The role of YLS in nymph survival rate, development and adult reproduction, and activities of transaminases in BPH on different resistant rice varieties were examined. Also, the relationship between YLS and virulence shifts of BPH to resistant rice varieties was discussed. The results indicated that the virulence of BPH populations to resistant rice varieties was strongly related to the abundance of YLS in 5th instar nymphs and brachypterous females of BPH field populations at Nanning in South China and Hangzhou in East China, showing the more abundance of YLS in BPH, the higher virulence of BPH to resistant rice varieties, while no obvious differences in YLS abundance were monitored between three BPH biotypes. Numbers of YLS reduced significantly in female adult of BPH biotype 1 fed on resistant rice varieties IR26, Mudgo and ASD7, compared with that fed on susceptible rice variety TN1. The lowest YLS abundance of BPH from field population was found in 2nd generation successively fed on resistant varieties, and the number of YLS was resumed at 4th generation when the BPH has adapted the resistant varieties. The markedly lower nymphal survival rate, adult fecundity and activities of alanine and aspartic transminase, and significantly longer nymph duration in the three aposymbiotic biotypes than in the symbiotic ones were recorded on both susceptible and resistant rice varieties. However, the much greater differences between aposymbiotic and symbiotic BPH were found on the inadaptable resistant rice varieties than that on the fitness resistant rice varieties. Those results implied that YLS in BPH should play a crucial role in the virulent shift of BPH populations to resistant rice varieties.
Real-time Monitoring for Freezing and Thawing Process of Subgrade in Seasonal Frozen Regions
Li MingBao,Zheng Xian,Zhang JiaWei 보안공학연구지원센터 2016 International Journal of Smart Home Vol.10 No.6
This research shows that there is a cosine changing of the distribution of the temperature field on an annual cycle, and a temperature changing lag exists for the different depth of subgrade. Based on the law of frozen depth of subgrade, the frozen procedures can be divided into four stages. Based on the observation data, the cathode surface temperature is positively correlated with both the frost heave quantity and the frozen depth. In addition, to reduce the observation cost and the measure difficulty, the frost heave quantity can be obtained through the observation of the frozen depth.
Hu, Pengwei,Zheng, Dewen,Xian, Yuxi,Hu, Xianhai,Zhang, Qian,Wang, Shanyu,Li, Mingjun,Cheng, Congliang,Liu, Jin,Wang, Ping Materials Research Society of Korea 2021 한국재료학회지 Vol.31 No.6
Bi<sub>2</sub>MoO<sub>6</sub> (BMO) via the structure-directing role of CO(NH<sub>2</sub>)<sub>2</sub> is successfully prepared via a facile solvothermal route. The structure, morphology, and photocatalytic performance of the nanoflake BMO are characterized by X-ray diffraction (XRD), scanning electron microscopy (SEM), fluorescence spectrum analysis (PL), UV-vis spectroscopy (UV-vis) and electrochemical test. SEM images show that the size of nanoflake BMO is about 50 ~ 200 nm. PL and electrochemical analysis show that the nanoflake BMO has a lower recombination rate of photogenerated carriers than particle BMO. The photocatalytic degradation of tetracycline hydrochloride (TC) by nanoflake BMO under visible light is investigated. The results show that the nanoflake BMO-3 has the highest degradation efficiency under visible light, and the degradation efficiency reached 75 % within 120 min, attributed to the unique hierarchical structure, efficient carrier separation and sufficient free radicals to generate active center synergies. The photocatalytic reaction mechanism of TC degradation on the nanoflake BMO is proposed.