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| 1 | Genomic landscapes of Chinese sporadic autism spectrum disordersrevealed by whole-genome sequencing显示文摘Autism spectrum disorder (ASD) is a neurodevelopmental disorder with considerable clinical and genetic heterogeneity.In this study,we identified all classes of genomic variants from whole-genome sequencing (WGS) dataset of 32 Chinese trios with ASD,including de novo mutations,inherited variants,copy number variants (CNVs) and genomic structural variants.A higher mutation rate (Poisson test,P<2.2×10^(-16)) in exonic (1.37×10^(-8)) and 3'-UTR regions (1.42×10^(-8)) was revealed in comparison with that of whole genome (1.05×10^(-8)).Using an integrated model,we identified 87 potentially risk genes (P<0.01) from 4832 genes harboring various rare deleterious variants,including CHD8 and NRXN2,implying that the disorders may be in favor to multiple-hit.In particular,frequent rare inherited mutations of several microcephaly-associated genes (ASPM,WDR62,and ZNF335)were found in ASD.In chromosomal structure analyses,we found four de novo CNVs and one de novo chromosomal rearrangement event,including a de novo duplication of UBE3A-containing region at 15q11.2-q13.1,which causes Angelman syndrome and microcephaly,and a disrupted TNR due to de novo chromosomal translocation t (1;5) (q25.1;q33.2).Taken together,our results suggest that abnormalities of centrosomal function and chromatin remodeling of the microcephaly-associated genes may be implicated in pathogenesis of ASD.Adoption of WGS as a new yet efficient technique to illustrate the full genetic spectrum in complex disorders,such as ASD,could provide novel insights into pathogenesis,diagnosis and treatment. | Jinyu Wu Ping Yu Xin Jin Xiu Xu Jinchen Li Zhongshan Li Mingbang Wang Tao Wang Xueli Wu Yi Jiang Wanshi Cai Junpu Mei Qingjie Min Qiong Xu Bingrui Zhou Hui Guo Ping Wang Wenhao Zhou Zhengmao Hu Yingrui Li Tao Cai Yi Wang Kun Xia Yong-Hui Jiang Zhong Sheng Sun | 2018 | Journal of Genetics and Genomics2018，45，10： | 3 |
| 2 | Preparation and char-acterization of sulfonated graphene- enhanced poly (vinyl alco-hol) composite hydrogel and its application as dye absorbent显示文摘 | Li Hong Fan Jinchen Shi Zixing | 2015 | Polymer2015，，60： | 1 |
| 3 | Novel discovery of schisandrin A regulating the interplay of autophagy and apoptosis in oligoasthenospermia by targeting SCF/c-kit and TRPV1 via biosensors显示文摘Oligoasthenospermia is the primary cause of infertility.However,there are still enormous challenges in the screening of critical candidates and targets of oligoasthenospermia owing to its complex mechanism.In this study,stem cell factor(SCF),c-kit,and transient receptor potential vanilloid 1(TRPV1)biosensors were successfully established and applied to studying apoptosis and autophagy mechanisms.Interestingly,the detection limit reached 2.787×10^(-15)g/L,and the quantitative limit reached 1.0×10^(-13)g/L.Furthermore,biosensors were used to investigate the interplay between autophagy and apoptosis.Schisandrin A is an excellent candidate to form a system with c-kit similar to SCF/c-kit with a detection constant(K_(D))of 5.701×10^(-11)mol/L,whereas it had no affinity for SCF.In addition,it also inhibited autophagy in oligoasthenospermia through antagonizing TRPV1 with a K_(D) of up to 4.181×10^(-10)mol/L.In addition,in vivo and in vitro experiments were highly consistent with the biosensor.In summary,high-potency schisandrin A and two potential targets were identified,through which schisandrin A could reverse the apoptosis caused by excessive autophagy during oligoasthenospermia.Our study provides promising insights into the discovery of effective compounds and potential targets via a well-established in vitro-in vivo strategy. | Lijuan Ma Boyi Li Jinchen Ma Chunyuan Wu Nan Li Kailin Zhou Yun Yan Mingshuang Li Xiaoyan Hu Hao Yan Qi Wang Yanfei Zheng Zhisheng Wu | 2023 | Acta Pharmaceutica Sinica B2023，13，6： | 1 |
| 4 | Mapping of de novo mutations in primary biliary cholangitis to a disease-specific co-expression network underlying homeostasis and metabolism显示文摘Primary biliary cholangitis(PBC) is an autoimmune disease involving dysregulation of a broad array of homeostatic and metabolic processes. Although considerable single-nucleotide polymorphisms have been unveiled, a large fraction of risk factors remains enigmatic. Candidate genes with rare mutations that tend to confer more deleterious effects need to be identified. To help pinpoint cellular and developmental mechanisms beyond common noncoding variants, we integrate whole exome sequencing with integrative network analysis to investigate genes harboring de novo mutations. Prominent convergence has been revealed on a network of disease-specific co-expression comprised of 55 genes associated with homeostasis and metabolism. The transcription factor gene MEF2 D and the DNA repair gene PARP2 are highlighted as hub genes and identified to be up-and down-regulated, respectively, in peripheral blood data set. Enrichment analysis demonstrates that altered expression of MEF2 D and PARP2 may trigger a series of molecular and cellular processes with pivotal roles in PBC pathophysiology. Our study identifies genes with de novo mutations in PBC and suggests that a subset of genes in homeostasis and metabolism tend to act in synergy through converging on co-expression network, providing novel insights into the etiology of PBC and expanding the pool of molecular candidates for discovering clinically actionable biomarkers. | Lu Wang Jinchen Li Chan Wang Ruqi Tang Jialong Liang Yuhua Gong Yaping Dai Ningling Ding Jian Wu Na Dai Lei Liu Yi Zhao Youlin Shao Weifeng Zhao Peng Jiang Xingjuan Shi Weichang Chen Ye Tian Xiangdong Liu Xiong Ma Zhongsheng Sun | 2022 | Journal of Genetics and Genomics2022，49，2： | 1 |
| 5 | Research on the Seismotectonic Setting in Beibu Gulf Waters显示文摘In this paper we discuss the seismogenic structures of the two earthquakes occurring in the Beibu Gulf waters,based on the investigation of geological structure,faults,geophysical fields,seismicity and earthquake focal mechanism.The results show that the NEE trending faults along the boundary of the Wushi depression are the dominating seismogenic structures,and the NW trending faults are the key factors of stress concentration.The results also show that high seismicity has a significant relationship with the late Cenozoic deposition center in the Beibu Gulf,and their NE-NEE trending boundary faults are important to the identification of seismogenic structures.The special arcuate fault segment or the intersection point of the NW trending faults and NE-NEE trending boundary faults is a possible location of future earthquakes. | Li Jinchen Pan Hua Chen Wenbin | 2010 | Earthquake Research in China2010，24，2： | 1 |
| 6 | Study on the activity coefficients and solubilities of amino acids in water by the perturbation theory显示文摘 | LIU Jinchen LU Jiufang LI Yigui | 1998 | Fluid Phase Equilibria1998，142，12： | 1 |
| 7 | Study on the activity coefficients and the solubilities of amino acids in water by the perturbation theory显示文摘 | Liu Jinchen Lu Jiufang Li Yigui | 1998 | Fluid Phase Equilibria1998，142，： | 1 |
| 8 | Comparative study on cultivation of microalgae for nutrient removal and lipid production in different artificial wastewaters显示文摘Wastewater contains high concentration of nutrients,like nitrogen and phosphorus,which have been identified as the main reasons for water eutrophication and serious ecological issues.Therefore,cultivating a tolerant and adaptive microalgae strain in wastewater is considered as a promising approach for sustainable biomass/lipid production.The potential usages of Desmodesmus sp.for biomass and lipid production within different artificial wastewater(AW)were investigated and the removal efficiencies of nutrient were compared.The maximum removal rate of chemical oxygen demand,ammonia nitrogen,nitrate nitrogen and phosphate were 272 mg/(L·d),14.021 mg/(L·d),7.774 mg/(L·d)and 3.347 mg/(L·d),respectively in AW2,AW3,AW5 and AW2.Maximum biomass(1.159 g/L)and lipid(280 mg/L)productions were observed in AW5,while the highest lipid content achieved was 37.42%in AW1.Fatty acid analysis showed that lipids extracted from AW-cultivated Desmodesmus sp.contained 59.57%-77.79%polyunsaturated fatty acids(30.6%-44.47%was linoleic acid). | Hao Rui Yu Zhen Li Jinchen Gao Min Ma Weiling Zhu Yi | 2017 | International Journal of Agricultural and Biological Engineering2017，10，1： | 1 |
| 9 | Was Wuhan the early epicenter of the COVID-19 pandemic?——a critique显示文摘Recently, Worobey et al.(2022) published a report entitled ‘The Huanan Seafood Wholesale Market in Wuhan was the early epicenter of the COVID-19 pandemic' that succinctly summarizes their study [1]. A pre-print version of this study had earlier elicited a series of highprofile media coverages [2,3]. All these reports deliver a social-political message that the Huanan market is the epicenter of COVID-19. | Yanan Cao Lingling Chen Hua Chen Yupeng Cun Xiaofeng Dai Hongli Du Feng Gao Fengbiao Guo Yalong Guo Pei Hao Shunmin He Shunping He XiongLei He Zheng Hu Boon-Peng Hoh Xin Jin Qian Jiang Qinghua Jiang Asifullah Khan Hong-Zhi Kong Jinchen Li Shuai Cheng Li Ying Li Qiang Lin Jianquan Liu Qi Liu Jian Lu Xuemei Lu Shujin Luo Qinghua Nie Zilong Qiu Tieliu Shi Xiaofeng Song Jianzhong Su Sheng-ce Tao Chaolong Wang Chuan-Chao Wang Guo-Dong Wang Jiguang Wang Qi Wu Shaoyuan Wu Shuhua Xu Yu Xue Wenjun Yang Zhaohui Yang Kai Ye Yuan-Nong Ye Li Yu Fangqing Zhao Yiqiang Zhao Weiwei Zhai Dandan Zhang Liye Zhang Houfeng Zheng Qi Zhou Tianqi Zhu Ya-ping Zhang | 2023 | National Science Review2023，10，4： | 0 |
| 10 | Application of Planar Seismogenic Structure to the Seismotectonic Method——A Case Study in the Dayao-Yao'an Area显示文摘In seismic hazard analysis of nuclear power plant of China there is a need to identify both seismogenic structures and seismotectonic zones. In past practice,the identification of the seismogenic structures was often based on the surface active faults and characterization of linear seismic source. In a situation which shows quite strong non-random seismic activity and lacks surface active faults,it is difficult to evaluate the seismic hazard reasonably. Taking seismogenic structures in the Dayao-Yao'an area as a case study in this paper,we discuss the need and the possibility to apply the planar seismogenic structure to the seismotectonic method. We suggest that the planar seismogenic structure should be considered when applying the seismotectonic method to the seismic risk assessment of nuclear engineering in future. | Li Jinchen Pan Hua | 2014 | Earthquake Research in China2014，28，1： | 0 |
| 11 | Performance Comparison of Computational Methods for the Prediction of the Function and Pathogenicity of Non-coding Variants显示文摘Non-coding variants in the human genome significantly influence human traits and complex diseases via their regulation and modification effects.Hence,an increasing number of computational methods are developed to predict the effects of variants in human non-coding sequences.However,it is difficult for inexperienced users to select appropriate computational methods from dozens of available methods.To solve this issue,we assessed 12 performance metrics of 24 methods on four independent non-coding variant benchmark datasets:(1)rare germline variants from clinical relevant sequence variants(ClinVar),(2)rare somatic variants from Catalogue Of Somatic Mutations In Cancer(COSMIC),(3)common regulatory variants from curated expression quantitative trait locus(eQTL)data,and(4)disease-associated common variants from curated genomewide association studies(GWAS).All 24 tested methods performed differently under various conditions,indicating varying strengths and weaknesses under different scenarios.Importantly,the performance of existing methods was acceptable for rare germline variants from ClinVar with the area under the receiver operating characteristic curve(AUROC)of 0.4481–0.8033 and poor for rare somatic variants from COSMIC(AUROC=0.4984–0.7131),common regulatory variants from curated eQTL data(AUROC=0.4837–0.6472),and disease-associated common variants from curated GWAS(AUROC=0.4766–0.5188).We also compared the prediction performance of 24 methods for non-coding de novo mutations in autism spectrum disorder,and found that the combined annotation-dependent depletion(CADD)and context-dependent tolerance score(CDTS)methods showed better performance.Summarily,we assessed the performance of 24 computational methods under diverse scenarios,providing preliminary advice for proper tool selection and guiding the development of new techniques in interpreting non-coding variants. | Zheng Wang Guihu Zhao Bin Li Zhenghuan Fang Qian Chen Xiaomeng Wang Tengfei Luo Yijing Wang Qiao Zhou Kuokuo Li Lu Xia Yi Zhang Xun Zhou Hongxu Pan Yuwen Zhao Yige Wang Lin Wang Jifeng Guo Beisha Tang Kun Xia Jinchen Li | 2023 | Genomics, Proteomics & Bioinformatics2023，21，3： | 0 |
| 12 | Targeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes显示文摘Neurodevelopmental disorders(NDDs)are a set of complex disorders characterized by diverse and cooccurring clinical symptoms.The genetic contribution in patients with NDDs remains largely unknown.Here,we sequence 519 NDD-related genes in 3,195 Chinese probands with neurodevelopmental phenotypes and identify 2,522 putative functional mutations consisting of 137 de novo mutations(DNMs)in 86 genes and 2,385 rare inherited mutations(RIMs)with 22 X-linked hemizygotes in 13 genes,2 homozygous mutations in 2 genes and 23 compound heterozygous mutations in 10 genes.Furthermore,the DNMs of16,807 probands with NDDs are retrieved from public datasets and combine in an integrated analysis with the mutation data of our Chinese NDD probands by taking 3,582 in-house controls of Chinese origin as background.We prioritize 26 novel candidate genes.Notably,six of these genes d ITSN1,UBR3,CADM1,RYR3,FLNA,and PLXNA3 d preferably contribute to autism spectrum disorders(ASDs),as demonstrated by high co-expression and/or interaction with ASD genes confirmed via rescue experiments in a mouse model.Importantly,these genes are differentially expressed in the ASD cortex in a significant manner and involved in ASD-associated networks.Together,our study expands the genetic spectrum of Chinese NDDs,further facilitating both basic and translational research. | Tao Wang Yi Zhang Liqui Liu Yan Wang Huiqian Chen Tianda Fan Jinchen Li Kun Xia Zhongsheng Sun | 2021 | Journal of Genetics and Genomics2021，48，4： | 0 |
| 13 | Influence of nitrogen status on fermentation performances of non-Saccharomyces yeasts:a review显示文摘Nitrogen,one of the most crucial nutrients present in grapes and musts,plays a key role in yeast activities during alcoholic fermentation.Such influences are imposed on yeast growth and fermentation performances including the formation of secondary metabolites.Saccharomyces cerevisiae,the main yeast responsible for fermentation,has been studied extensively regarding nitrogen impacts.On the other hand,a similar study for non-Saccharomyces yeasts,whose contributions to winemaking have gradually been acknowledged,remains to be fully explored,with a few studies being reported.This review starts by discussing nitrogen impacts on non-Saccharomyces yeast growth and fermentation kinetics in different case scenarios,then proceeds to summarize the nitrogen preferences of individual yeast strains with regulation mechanisms elucidated by recent studies.Detailed discussions on the influences on the production of volatile compounds and proposed pathways therein are made,followed by future work suggested as the final section.In summarizing the nitrogen impacts on non-Saccharomyces yeasts throughout alcoholic fermentation,this review will be helpful in obtaining a more comprehensive view on these non-conventional wine yeasts in terms of nutrient requirements and corresponding volatile production.Research gaps will therefore be elucidated for future research. | Jinchen Li Mengmeng Yuan Nan Meng Hehe Li Jinyuan Sun Baoguo Sun | 2024 | Food Science and Human Wellness2024，13，2： | 0 |
| 14 | Verification of Parameters of Major Historical Earthquakes in the North Yellow Sea显示文摘Based on existing historical data and observations from the Dalian seismic station,this paper rechecks the parameters of the three historical earthquakes of 1916,1917 and 1944 in the North Yellow Sea,near the Yalu River region.The results show that their relocated epicenters are located at contemporarily intense seismic active zones,consistent with the results derived from the data of the Dalian seismic station.The results are valuable in both revising earthquake catalogues and understanding the local background seismicity. | Zhang Zhizhong Pan Hua Yan Jiaquan Wu Xuan Li Jinchen | 2010 | Earthquake Research in China2010，24，4： | 0 |
| 15 | Study on Uncertainties of Seismicity Parameters b and ν_4 in Seismic Statistical Zones显示文摘For several seismic statistical zones in North China,the key factors causing uncertainties in the important seismicity parameters b and ν_4 and the features of their uncertainties are discussed in this paper.The magnitude of uncertainty is also analyzed.It can be seen that the key influencing factors are statistical period,methods of processing statistical samples,lower limit magnitude and the annual average occurrence ratio of large earthquakes.The variation ranges of b and ν_4 in the Tancheng-Lujiang zone are as high as 0.2 and 1.4 respectively,which are similar to those in the Fenwei zone.They are much smaller however in the Hebei zone because of its sufficient statistical samples. | Pan Hua Li Jinchen Li Zhiguo | 2007 | Earthquake Research in China2007，21，3： | 0 |
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