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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 | Improvement of Foaming and Emulsifying Properties of Gluten by Conjugation with Fructose through Maillard Reaction显示文摘Gluten has poor emulsifying and foaming ability due to its amino acid composition. In this study, Maillard reaction was used to improve the emulsifying and foaming properties of gluten. The processing conditions for the preparation of gluten-fructose conjugates were optimized by using Box-Behnken model to achieve optimum foaming and emulsifying activity, respectively.The results showed that glycated gluten exhibited enhanced emulsifying activity compared to native control. The processing conditions for the preparation of gluten-fructose conjugates with optimum emulsifying activity were as follows: the temperature was 48℃, reaction time was 72 h, and maltose/gluten(W/W) ratio was 125%. Under such condition, the average emulsifying activity was 66.54%, being improved by about 2.5 times compared with that of native control. The Foaming properties of gluten also increased significantly by glycation modification. The optimum conditions of response were as below: the temperature was 48℃, reaction time was 66 h, and maltose/gluten ratio(W/W) was 110%. Under such condition, the average foaming property was 158.57%, and it was three folds higher than that of the control. | SONG Yongling QIN Ruiqi YANG Shaoming LI Jianghe WANG Ruolan | 2018 | Grain & Oil Science and Technology2018,1,3: | 5 |
| 3 | 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 |
| 4 | Efficacy of preharvest spraying with Pichia guilliermondii on postharvest decay and quality of cherry tomato fruit during storage显示文摘 | Zhao Yan Wang Ruolan Tu kang | 2011 | African Journal of Biotechnology2011,47,10: | 1 |
| 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 | Promoting hybrid twins structure to reduce yield asymmetry of rolled AZ31 plates by combining side-rolling and torsion显示文摘In this work,an as-rolled AZ31 square bar with c-axis//ND(normal direction)texture was used.Side-rolling and reciprocating torsion were performed to treat the bar.Microstructure evolution and tensile-compressive properties were investigated in detail.Initial rolled AZ31 bar exhibits a large yield asymmetry along the rolling direction(RD).Reciprocating torsion can generate extension twins to introduce twin boundaries and twin-texture.The twin structure can reduce yield asymmetry.However,only limited regions in the rolled AZ31 bar can be twinned during torsion.Pre-side-rolling along the transverse direction(TD)can generate two texture components(c-axis//TD texture and c-axis//ND texture)by introducing profuse{10–12}twins.Such dual texture components help increase the regions which are favorable for twinning during torsion.Finally,combining side-rolling and reciprocating torsion generates hybrid{10–12}twins structure on the entire cross-section,resulting in a remarkably low yield asymmetry.The relevant mechanisms were discussed in detail. | Bo Song Meng Wang Ruolan Shi Zhiwen Du Ning Guo Fang Wang Shengfeng Guo | 2023 | Journal of Magnesium and Alloys2023,11,6: | 1 |
| 7 | Using technology to open up learning and teaching through improvisation: Case studies with micro-blogs and short message service communications显示文摘 | Patrick Dillon RuoLan Wang Mikko Vesisenaho Teemu Valtonen Sari Havu-Nuutinen | 2013 | Thinking Skills and Creativity2013,,: | 1 |
| 8 | Induction of Anxiety-Like Phenotypes by Knockdown of Cannabinoid Type-1 Receptors in the Amygdala of Marmosets显示文摘The amygdala is an important hub for regulating emotions and is involved in the pathophysiology of many mental diseases,such as depression and anxiety.Meanwhile,the endocannabinoid system plays a crucial role in regulating emotions and mainly functions through the cannabinoid type-1 receptor(CB1R),which is strongly expressed in the amygdala of non-human primates(NHPs).However,it remains largely unknown how the CB1Rs in the amygdala of NHPs regulate mental diseases.Here,we investigated the role of CB1R by knocking down the cannabinoid receptor 1(CNR1)gene encoding CB1R in the amygdala of adult marmosets through regional delivery of AAV-SaCas9-gRNA.We found that CB1R knockdown in the amygdala induced anxiety-like behaviors,including disrupted night sleep,agitated psychomotor activity in new environments,and reduced social desire.Moreover,marmosets with CB1R-knockdown had up-regulated plasma cortisol levels.These results indicate that the knockdown of CB1Rs in the amygdala induces anxiety-like behaviors in marmosets,and this may be the mechanism underlying the regulation of anxiety by CB1Rs in the amygdala of NHPs. | Lin Zhu Di Zheng Rui Li Chen-Jie Shen Ruolan Cai Chenfei Lyu Binliang Tang Hao Sun Xiaohui Wang Yu Ding Bin Xu Guoqiang Jia Xinjian Li Lixia Gao Xiao-Ming Li | 2023 | Neuroscience Bulletin2023,39,11: | 0 |
| 9 | 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 |
| 10 | SR-BI expression regulates the gastric cancer tumor immune microenvironment and is associated with poor prognosis显示文摘Aim:Scavenger receptor class B,type I(SR-BI)is an integral plasma membrane protein that has been reported to be overexpressed in various malignancies,such as renal cancer,breast cancer,and prostate cancer,and is an independent prognostic factor.However,the clinical value and expression of SR-BI in GC are unknown.Our research aimed to explore the role of SR-BI in combination with immune markers as a diagnostic and prognostic marker for gastric cancer(GC).Methods:GC tissues,paracancerous tissues,and clinicopathological data of 149 patients were collected.The expression level of SR-BI,Tumor-infiltrating lymphocytes(TILs),and PD-L1 were evaluated by immunohistochemistry(IHC).The associations of the SR-BI staining intensity with clinicopathological features and immune markers were determined by the chi-square test.Univariate and multivariate COX regression analyses were used to evaluate independent prognostic factors.Kaplan–Meier analyses were performed to plot the survival curve.Results:Our results indicated that SR-BI was expressed at higher levels in tumor tissues than in adjacent paracancerous tissues(p<0.001),and patients with high levels of SR-BI expression had a worse prognosis.Univariate and multivariate analyses revealed that high SR-BI expression was an independent factor for poor prognosis.The chi-square test determined that the expression of SR-BI was negatively correlated with CD4+T cells and CD8+T cells(CD4+T cells,p=0.013;CD8+T cells,p=0.021),and positively correlated with PD-L1(p=0.022).Finally,survival analysis revealed that CD4+T cells were associated with the prognosis of GC patients(p=0.019),and the combined survival analysis of SR-BI and CD4+T cells was also statistically significant(p=0.030).Conclusion:SR-BI is highly expressed in GC tissue and associated with poor prognosis.Moreover,SR-BI can also regulate the GC tumor immune microenvironment. | YI WANG SHANGQI CHEN PENGCHENG YU ZHEHAN BAO CAN HU YUHANG XIA RUOLAN ZHANG LI YUAN HUA RUAN JIANCHENG SUN | 2023 | BIOCELL2023,47,5: | 0 |