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| 1 | Newborn screening with targeted sequencing:a multicenter investigation and a pilot clinical study in China显示文摘Different newborn screening(NBS) programs have been practiced in many countries since the 1960 s. It is of considerable interest whether next-generation sequencing is applicable in NBS. We have developed a panel of 465 causative genes for 596 early-onset, relatively high incidence, and potentially actionable severe inherited diseases in our Newborn Screening with Targeted Sequencing(NESTS) program to screen 11,484 babies in 8 Women and Children’s hospitals nationwide in China retrospectively. The positive rate from preliminary screening of NESTS was 7.85%(902/11,484). With 45.89%(414/902) follow-up of preliminary positive cases, the overall clinically confirmative diagnosis rate of monogenic disorders was 12.07%(50/414), estimating an average of 0.95%(7.85% × 12.07%) clinical diagnosis rate, suggesting that monogenic disorders account for a considerable proportion of birth defects. The disease/gene spectrum varied in different regions of China. NESTS was implemented in a hospital by screening 3923 newborns to evaluate its clinical application. The turn-around time of a primary report, including the sequencing period of < 7 days, was within 11 days by our automatic interpretation pipeline. Our results suggest that NESTS is feasible and cost-effective as a first-tier NBS program, which will change the status of current clinical practice of NBS in China. | Chanjuan Hao Ruolan Guo Xuyun Hu Zhan Qi Qi Guo Xuanshi Liu Yuanhu Liu Yanhua Sun Xiaofen Zhang Feng Jin Xiujie Wu Ren Cai Dingyuan Zeng Xijiang Hu Xiaohua Wang Xiaoping Ji Wenjie Li Quansheng Xing Lanfang Mu Xiulian Jiang Xue Yang Weimin Yang Yan Zhang Qianli Yin Xin Ni Wei Li | 2022 | Journal of Genetics and Genomics2022，49，1： | 7 |
| 2 | Pre-moxibustion and moxibustion prevent Alzheimer's disease显示文摘The Alzheimer's disease model in Wistar rats was established by injection of amyloid β-peptide(Aβ1–42) into the hippocampal CA1 region. Rats were treated with suspended moxibustion on Baihui(GV20) and Shenshu(BL23) acupoints. Prior to and post Aβ1–42exposure. Results showed no evidence of apoptosis in hippocampal neurons, a significantly reduced apoptosis rate of neurons and improved learning and memory abilities were observed in the Alzheimer's disease model. In particular, moxibustion prior to Aβ1–42exposure was more effective than moxibustion after Aβ1–42exposure in protecting the neuronal structure and lowering the apoptosis rate. Our findings indicate that a combination of preventive and therapeutic moxibustion has a beneficial effect for the prevention of Alzheimer's disease development. | Yanjun Du Ruolan Liu Guojie Sun Peiyan Meng Jie Song | 2013 | Neural Regeneration Research2013，8，30： | 4 |
| 3 | GmCRY1s modulate gibberellin metabolism to regulate soybean shade avoidance in response to reduced blue light显示文摘Soybean is an important legume crop that displays the classic shade avoidance syndrome(SAS),including exaggerated stem elongation,which leads to lodging and yield reduction under density farming conditions.Here,we compared the effects of two shade signals,low red light to far-red light ratio(R:FR)and low blue light(LBL),on soybean status and revealed that LBL predominantly induces excessive stem elongation.We used CRISPR-Cas9-engineered Gmcry mutants to investigate the functions of seven cryptochromes(GmCRYs)in soybean and found that the four GmCRY1s overlap in mediating LBL-induced SAS.Lightactivated GmCRY1s increase the abundance of the bZlP transcription factors STF1 and STF2,which directly upregulate the expression of genes encoding GA2 oxidases to deactivate GA1 and repress stem elongation.Notably,GmCRY1b overexpression lines displayed multiple agronomic advantages over the wild-type control under both dense planting and intercropping conditions.Our study demonstrates the integration of GmCRY1-mediated signals with the GA metabolic pathway in the regulation of LBL-induced SAS in soybean.It also provides a promising option for breeding lodging-resistant,high-yield soybean cultivars in the future. | Xiangguang Lyu Qican Cheng Chao Qin Yinghui Li Xinying Xu Ronghuan Ji Ruolan Mu Hongyu Li Tao Zhao Jun Liu Yonggang Zhou Haiyan Li Guodong Yang Qingshan Chen Bin Liu | 2021 | Molecular Plant2021，14，2： | 4 |
| 4 | EETs and CYP2J2 inhibit TNF-α-induced apoptosis in pulmonary arteryendothelial cells and TGF-β1-induced migration in pulmonary artery smooth musclecells显示文摘 | Wenjing Feng Xizhen Xu Gang Zhao Geng Li Tiantian Liu Junjie Zhao Ruolan Dong Dao Wang Ling Tu | 2013 | International Journal of Molecular Medicine2013，，3： | 2 |
| 5 | Evaluation and Hydrological Application of CMADS Reanalysis Precipitation Data against Four Satellite Precipitation Products in the Upper Huaihe River Basin, China显示文摘Satellite-and reanalysis-based precipitation products are important data source for precipitation, particularly in areas with a sparse gauge network. Here, five open-access precipitation products, including the newly released China Meteorological Assimilation Driving Datasets for the Soil and Water Assessment Tool(SWAT) model(CMADS)reanalysis dataset and four widely used bias-adjusted satellite precipitation products [SPPs;i.e., Tropical Rainfall Measuring Mission(TRMM) Multisatellite Precipitation Analysis 3B42 Version 7(TMPA 3B42V7), Climate Prediction Center(CPC) morphing technique satellite–gauge blended product(CMORPH-BLD), Climate Hazards Group Infrared Precipitation with Station Data(CHIRPS), and Precipitation Estimation from Remotely Sensed Information using Artificial Neural Networks–Climate Data Record(PERSIANN-CDR)], were assessed. These products were first compared with the gauge observed data collected for the upper Huaihe River basin, and then were used as forcing data for streamflow simulation by the Xin’anjiang(XAJ) hydrological model under two scenarios with different calibration procedures. The performance of CMADS precipitation product for the Chinese mainland was also assessed. The results show that:(1) for the statistical assessment, CMADS and CMORPH-BLD perform the best, followed by TMPA 3B42V7, CHIRPS, and PERSIANN-CDR, among which the correlation coefficient(CC) and rootmean-square error(RMSE) values of CMADS are optimal, although it exhibits certain significant negative relative bias(BIAS;-22.72%);(2) CMORPH-BLD performs the best in capturing and detecting rainfall events, while CMADS tends to underestimate heavy and torrential precipitation;(3) for streamflow simulation, the performance of using CMADS as input is very good, with the highest Nash–Sutcliffe efficiency(NSE) values(0.85 and 0.75 for calibration period and validation period, respectively);and(4) CMADS exhibits high accuracy in eastern China while with significant negative BIAS, and the performance declines from southeast to northwest. The statistical and hydrological evaluations show that CMADS and CMORPH-BLD have high potential for observing precipitation. As high negative BIAS values showed up in CMADS evaluation, further study on the error sources from original data and calibration algorithms is necessary. This study can serve as a reference for selecting precipitation products in datascarce regions with similar climates and topography in the Global Precipitation Measurement(GPM) era. | Shanhu JIANG Ruolan LIU Liliang REN Menghao WANG Junchao SHI Feng ZHONG Zheng DUAN | 2020 | Journal of Meteorological Research2020，34，5： | 1 |
| 6 | CCL2 recruitment of IL-6-producing CD11b^+ monocytes to the draining lymph nodes during the initiation of Th17-dependent B cell-mediated autoimmunity 显示文摘 | Yin Bai Ruolan Liu DeRen Huang | 2008 | EurJ Immunol2008，38，： | 1 |
| 7 | Evaluation of the metabolism of PEP06,an endostatin-RGDRGD 30-amino-acid polypeptide and a promising novel drug for targeting tumor cells显示文摘PEP06 is a novel endostatin-Arg-Gly-Asp-Arg-Gly-Asp(RGDRGD)30-amino-acid polypeptide featuring a terminally fused RGDRGD hexapeptide at the N terminus.The active endostatin fragment of PEP06 directly targets tumor cells and exerts an antitumoral effect.However,little is known about the kinetics and degradation products of PEP06 in vitro or in vivo.In this study,we investigated the in vitro metabolic stability of PEP06 after it was incubated with living cells obtained from animals of different species;we further identified the degradation characteristics of its cleavage products.PEP06 underwent rapid enzymatic degradation in multiple types of living cells,and the liver,kidney,and blood play important roles in the metabolism and clearance of the peptides resulting from the molecular degradation of PEP06.We identified metabolites of PEP06 using full-scan mass spectrometry(MS)and tandem MS(MS2),wherein 43 metabolites were characterized and identified as the degradation metabolites from the parent peptide,formed by successive losses of amino acids.The metabolites were C and N terminal truncated products of PEP06.The structures of 11 metabolites(M6,M7,M16,M17,M21,M25,M33,M34,M39,M40,and M42)were further confirmed by comparing the retention times of similar full MS spectrum and MS2 spectrum information with reference standards for the synthesized metabolites.We have demonstrated the metabolic stability of PEP06 in vitro and identified a series of potentially bioactive downstream metabolites of PEP06,which can support further drug research. | Liyun Niu Huiyu Zhou Yueru Lian Ya Gao Yulu Liu Ruolan Gu Zhuona Wu Xiaoxia Zhu Hui Gan Zhiyun Meng Guifang Dou | 2022 | Journal of Pharmaceutical Analysis2022，12，5： | 0 |
| 8 | Characterizing structure of cross-disciplinary impact of global disciplines:A perspective of the Hierarchy of Science显示文摘Purpose:Interdisciplinary fields have become the driving force of modern science and a significant source of scientific innovation.However,there is still a paucity of analysis about the essential characteristics of disciplines’cross-disciplinary impact.Design/methodology/approach:In this study,we define cross-disciplinary impact on one discipline as its impact to other disciplines,and refer to a three-dimensional framework of variety-balance-disparity to characterize the structure of cross-disciplinary impact.The variety of cross-disciplinary impact of the discipline was defined as the proportion of the high cross-disciplinary impact publications,and the balance and disparity of cross-disciplinary impact were measured as well.To demonstrate the cross-disciplinary impact of the disciplines in science,we chose Microsoft Academic Graph(MAG)as the data source,and investigated the relationship between disciplines’cross-disciplinary impact and their positions in the Hierarchy of Science(HOS).Findings:Analytical results show that there is a significant correlation between the ranking of cross-disciplinary impact and the HOS structure,and that the discipline exerts a greater cross-disciplinary impact on its neighboring disciplines.Several bibliometric features that measure the hardness of a discipline,including the number of references,the number of cited disciplines,the citation distribution,and the Price index have a significant positive effect on the variety of cross-disciplinary impact.The number of references,the number of cited disciplines,and the citation distribution have significant positive and negative effects on balance and disparity,respectively.It is concluded that the less hard the discipline,the greater the cross-disciplinary impact,the higher balance and the lower disparity of cross-disciplinary impact.Research limitations:In the empirical analysis of HOS,we only included five broad disciplines.This study also has some biases caused by the data source and applied regression models.Practical implications:This study contributes to the formulation of discipline-specific policies and promotes the growth of interdisciplinary research,as well as offering fresh insights for predicting the cross-disciplinary impact of disciplines.Originality/value:This study provides a new perspective to properly understand the mechanisms of cross-disciplinary impact and disciplinary integration. | Ruolan Liu Jin Mao Gang Li Yujie Cao | 2024 | Journal of Data and Information Science2024，9，1： | 0 |
| 9 | An UPLC-MS/MS method to monitor Estriol injection and comparison of pharmacokinetic characteristics after irradiation显示文摘Objective:To develop an UPLC-MS/MS method for the accurate quantification of Estriol(E3),a new radioprotective agent,and observe the variation in pharmacokinetic characteristics of E3 after irradiation.As a hormone drug,the gender differences of E3 metabolism were also concerned here.Methods:Various chromatographic and mass spectrometric conditions of E3 were optimized.The specificity,linearity,precision and accuracy of UPLC-MS/MS method were validated.Twenty SD rats,half male and half female,were administered with intramuscular(im)injection of 2.7 mg/kg E3,and then divided randomly into two groups,sham-irradiated group(Con)and irradiated group(IR).IR group was irradiated to 7 Gy ofγ-rays.Blood samples were collected at different times post-irradiation and E3 concentrations were detected.The changes of concentration-time variation and pharmacokinetic parameters for E3 after irradiation were investigated,together with metabolic differences between male and female rats.Results:The range of the calibration curve of UPLC-MS/MS for E3 was 1.00–200.0 ng/mL.Con group reached maximum concentration(Cmax)(77.57±18.71)ng/mL at(0.68±0.29)h(Tmax)after im injection.The drug concentration-time profiles and pharmacokinetic parameters of E3 were consistent before and after irradiation.The areas under time curve(AUC0-t)of E3 were(353±74)h⋅ng/mL for Con group,and(299±74)h⋅ng/mL for IR group(P>0.05).There were also no statistical differences in pharmacokinetic parameters between female and male rats.The elimination half-lifes(T1/2)of males and females were(3.02±0.68)h and(3.01±0.42)h in Con group,and(3.64±0.51)h and(3.38±0.60)h in IR group,respectively(P>0.05).Conclusion:A rapid and sensitive UPLC-MS/MS method for determination of E3 was established.The pharmacokinetic characteristics of E3 in rat were not affected by 7 Gy irradiation and gender differences.This study provided a theoretical basis for the development and application of new radiation injury treatment drug。 | Hanming Zhang Zhiyun Meng Tong Ye Taoyun Liu Jian Li Fei Ma Ruolan Gu Xiaoxia Zhu Zhuona Wu Guifang Dou Hui Gan | 2021 | Radiation Medicine and Protection2021，2，2： | 0 |
| 10 | Transplantation of human placental chorionic plate-derived mesenchymal stem cells for repair of neurological damage in neonatal hypoxic-ischemic encephalopathy显示文摘Neonatal hypoxic-ischemic encephalopathy is often associated with permanent cerebral palsy,neurosensory impairments,and cognitive deficits,and there is no effective treatment for complications related to hypoxic-ischemic encephalopathy.The therapeutic potential of human placental chorionic plate-derived mesenchymal stem cells for various diseases has been explored.However,the potential use of human placental chorionic plate-derived mesenchymal stem cells for the treatment of neonatal hypoxic-ischemic encephalopathy has not yet been investigated.In this study,we injected human placental chorionic plate-derived mesenchymal stem cells into the lateral ventricle of a neonatal hypoxic-ischemic encephalopathy rat model and observed significant improvements in both cognitive and motor function.Protein chip analysis showed that interleukin-3 expression was significantly elevated in neonatal hypoxic-ischemic encephalopathy model rats.Following transplantation of human placental chorionic plate-derived mesenchymal stem cells,interleukin-3 expression was downregulated.To further investigate the role of interleukin-3 in neonatal hypoxic-ischemic encephalopathy,we established an in vitro SH-SY5Y cell model of hypoxic-ischemic injury through oxygen-glucose deprivation and silenced interleukin-3 expression using small interfering RNA.We found that the activity and proliferation of SH-SY5Y cells subjected to oxygen-glucose deprivation were further suppressed by interleukin-3 knockdown.Furthermore,interleukin-3 knockout exacerbated neuronal damage and cognitive and motor function impairment in rat models of hypoxic-ischemic encephalopathy.The findings suggest that transplantation of hpcMSCs ameliorated behavioral impairments in a rat model of hypoxic-ischemic encephalopathy,and this effect was mediated by interleukin-3-dependent neurological function. | Lulu Xue Ruolan Du Ning Bi Qiuxia Xiao Yifei Sun Ruize Niu Yaxin Tan Li Chen Jia Liu Tinghua Wang Liulin Xiong | 2024 | Neural Regeneration Research2024，19，9： | 0 |
| 11 | Severe cases of BCGosis-susceptible primary immunodeficiency diseases identified by next-generation sequencing:Implications for adjustment of BCG vaccination timing in China显示文摘The World Health Organization(WHO)recommends neonatal Bacillus Calmette-Guerin(BCG)vaccination in countries with a high prevalence of tuberculosis(TB),which has been practiced in more than 150 countries(WHO,2004).The prevalence of TB is a serious condition in China,ranking as the second in the high epidemic countries globally(WHO,2018).China initiated a neonatal BCG vaccination program in 1986 and reached an average vaccination rate of 99%in 2016 with a great success in preventing the incidence of TB(WHO,2018). | Gang Liu Haijuan Xiao Linlin Liu Lingyun Guo Ruolan Guo Xuyun Hu Chanjuan Hao Jingang Gui Weiwei Jiao Fang Xu Adong Shen Wei Li | 2020 | Journal of Genetics and Genomics2020，47，4： | 0 |
| 12 | MLST analysis of genetic diversity of Bacillus coagulans strains to evaluate effects on constipation model显示文摘Bacillus coagulans can help ameliorate or prevent gastrointestinal diseases, but the genetic relationships among B. coagulans isolates are not well studied. Multilocus sequence typing analysis was conducted on 57 isolates of B. coagulans from 22 provinces or autonomous regions in China. B. coagulans isolates were highly diverse and a total of 33(sequence typings) STs were found. These isolates had a weak clonal population structure and strong indications of intraspecies recombination. The evolution direction of B. coagulans was not correlated with geography or isolation source. Fifteen strains were selected for further analysis based on proximity relationships from the phylogenetic tree. Five isolates(B. coagulans-1, B. coagulans-10, B. coagulans-39, B. coagulans-70 and B. coagulans-71) with good spore-forming ability relative to the rest of the isolates were evaluated for constipation relief. B. coagulans-39 significantly relieved constipation symptoms in mice by regulating intestinal flora, increasing the production of short-chain fatty acids and restoring the level of gastrointestinal regulatory peptides. Comparative genomic analysis showed the beneficial effects of B. coagulans-39 might be associated with specific functional genes that are involved in the utilization of various carbohydrates as primary substrates and short-chain fatty acid production. | Jiang Cao Wenyin Liu Ruolan Liliu Jianxin Zhao Hao Zhang Wei Chen Qixiao Zhai | 2022 | Food Science and Human Wellness2022，11，4： | 0 |
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