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Genome-wide detection of additional fetal chromosomal abnormalities by cell-free DNA testing of 15,626 consecutive pregnant women

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Science China(Life Sciences) 2019年第2期62卷 215-224页

作者： Hong Yao Ya Gao Jia Zhao Rong Zhang Huixin Xu Huamei Hu Yanmei Luo Yuying Yuan Meili Fu Hongyun Zhang Hui Jiang Wei Wang Huanming Yang Jian Wang Zhiqing Liang Fang Chen Department of Gynecology & Obstetrics Southwest Hospital the Third Military Medical University BGI-Shenzhen China National GeneBank BGI-Shenzhen birth defect screening project lab BGI-Shenzhen Clinical laboratories of BGI Health BGI-Shenzhen James D.Watson Institute of Genome Sciences laboratory of Genomics and Molecular Biomedicine Department of Biology University of Copenhagen

Cell-free DNA(cfDNA) testing for common fetal trisomies(T21, T18, T13) is highly effective. However, the usefulness of cfDNA testing in detecting other chromosomal abnormalities is unclear. We evaluated the performance of cfDNA testing for genome-wide abnormalities, and analyzed the incremental yield by reporting extra abnormalities. We performed genome-wide cfDNA testing in 15,626 consecutive pregnancies prospectively enrolled in this study. cfDNA testing results were reported and counseling was given depending on the presence of extra chromosomal abnormalities. cfDNA testing identified 190 cases(1.2%)of chromosomal abnormalities including 100 common trisomies and 90 additional abnormalities. By expanding the cfDNA reporting range to genome-wide abnormalities, the false positive rate increased to 0.39%(Pscreening findings. cfDNA testing outperformed biochemical screening by showing 60 times higher true positive rate and fewer false negative ***-wide cfDNA testing significantly increased the diagnostic yield by detecting extra abnormalities, especially those without diagnostic indications. Genome-wide cfDNA testing has fewer false positive and false negative results compared with biochemical screening.

关键词： cell-free DNA genome-wide chromosomal abnormalities sensitivity specificity PPV

A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China

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World Journal of Pediatrics 2023年第7期19卷 663-673页

作者： Ru-Lai Yang Gu-Ling Qian Ding-Wen Wu Jing-Kun Miao Xue Yang Ben-Qing Wu Ya-Qiong Yan Hai-Bo Li Xin-Mei Mao Jun He Huan Shen Hui Zou Shu-Yuan Xue Xiao-Ze Li Ting-Ting Niu Rui Xiao Zheng-Yan Zhao National Clinical Research Center for Child Health Children's HospitalZhejiang University School of MedicineHangzhouChina Chongqing Health Center for Women and Children Neonatal Screening CenterChongqingChina Guiyang Maternal and Child Health Hospital GuiyangChina University of the Chinese Academy of Science Shenzhen HospitalShenzhen 518000GuangdongChina Shanxi Children's Hospital Shanxi Maternal and Child Health Hospital TaiyuanShanxiChina The Central laboratory of birth defects Prevention and Control Ningbo Women and Children's HospitalNingbo 315012ZhejiangChina Maternal and Child Health Hospital of Ningxia Hui Autonomous Region YinchuanChina Changsha Maternal and Child Health Hospital ChangshaHunanChina Yunnan Maternal and Child Health Hospital KunmingYunanChina Jinan Maternity and Child Care Hospital Affiliated to Shandong First Medical University JinanShandongChina Urumqi Maternal and Child Health Care Hospital Xinjiang Uygur Autonomous RegionUrumqi CityChina Medical Genetic Center Changzhi Maternal and Child Health Care HospitalChangzhiShanxiChina Maternal and Child Health Care Hospital of Shandong Province JinanShandongChina National Engineering laboratory for Key Technology of birth defect Control and Prevention Screening and Diagnostic R and D CenterHangzhouChina

Background Newborn screening(NBS)is an important and successful public health program that helps improve the long-term clinical outcomes of newborns by providing early diagnosis and treatment of certain inborn *** develop-ment of next-generation sequencing(NGS)technology provides new opportunities to expand current newborn screening *** We designed a a newborn genetic screening(NBGS)panel targeting 135 genes associated with 75 inborn disorders by multiplex PCR combined with *** this panel,a large-scale,multicenter,prospective multidisease analysis was conducted on dried blood spot(DBS)profiles from 21,442 neonates *** We presented the positive detection rate and carrier frequency of diseases and related variants in different regions;and 168(0.78%)positive cases were ***-6-Phosphate Dehydrogenase deficiency(G6PDD)and phenylketonuria(PKU)had higher prevalence rates,which were significantly different in different *** positive detection of G6PD variants was quite common in south China,whereas PAH variants were most commonly identified in north *** addi-tion,NBGS identified 3 cases with DUOX2 variants and one with SLC25A13 variants,which were normal in conventional NBS,but were confirmed later as abnormal in repeated biochemical testing after *** percent of high-frequency gene carriers and 60%of high-frequency variant carriers had obvious regional *** the premise that there was no significant difference in birth weight and gestational age,the biochemical indicators of SLC22A5 c.1400C>G and ACADSB c.1165A>G carriers were significantly different from those of *** We demonstrated that NBGS is an effective strategy to identify neonates affected with treatable diseases as a supplement to current NBS *** data also showed that the prevalence of diseases has significant regional charac-teristics,which provides a theoretical basis for screening diseases in di

关键词： Monogenic genetic diseases Newborn screening Next-generation sequencing Monogenic genetic diseases Regional features

Artificial intelligence and big data facilitated targeted drug discovery

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Stroke & Vascular Neurology 2019年第4期4卷 206-213页

作者： Benquan Liu Huiqin He Hongyi Luo Tingting Zhang Jingwei Jiang Jiangsu Key lab of Drug screening China Pharmaceutical UniversityNanjingChina

Different kinds of biological databases publicly available nowadays provide us a goldmine of multidiscipline big *** Cancer Genome Atlas is a cancer database including detailed information of many patients with *** is a database including detailed information of approved,investigational and withdrawn drugs,as well as other nutraceutical and metabolite *** is a chemical compound database including all commercially available compounds as well as other synthesisable *** Data Bank is a crystal structure database including X-ray,cryo-EM and nuclear magnetic resonance protein three-dimensional structures as well as their *** the other hand,artificial intelligence(AI)is playing an important role in the drug discovery *** integration of such big data and AI is making a great difference in the discovery of novel targeted *** this review,we focus on the currently available advanced methods for the discovery of highly effective lead compounds with great absorption,distribution,metabolism,excretion and toxicity properties.

关键词： metabolism targeted drugs

Electroacupuncture Attenuates Ischemic Brain Injury and Cellular Apoptosis via Mitochondrial Translocation of Cofilin

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Chinese Journal of Integrative Medicine 2021年第9期27卷 705-712页

作者： CHEN Bin LIN Wan-qing LI Zuan-fang ZHONG Xiao-yong WANG Jing YOU Xiao-fang ZHAO Hong-jia QI Da-shi Department of Rehabilitation Medicine and National Clinical Research Base of Traditional Chinese Medicine the Affiliated People's Hospital of Fujian University of Traditional Chinese MedicineFuzhou(350004)China Academy of Integrative Medicine Fujian University of Traditional Chinese MedicineFuzhou(350108)China Shanghai Key lab of birth defect Children's Hospital of Fudan UniversityShanghai(200032)China

Objective:To investigate the potential mechanisms of electroacupuncture(EA)to prevent ischemic ***:The method of middle cerebral artery occlusion(MCAO)was employed to establish a rat model of ischemic ***-eight Sprague-Dawley rats were divided into the sham group,MCAO+EA control(EC)group,and MCAO+EA(EA)group according to a random number table(n=26 per group).EA was applied to the acupoints of Baihui(DU 20)and Shenting(DU 24)5 min and 6 h,respectively after the onset of MCAO for 30 *** in the sham and EC groups received only light isoflurane anesthesia for 30 min after *** neuroprotective effects of EA were evaluated by rota-rod test,neurological deficit scores and infarct ***,Nissl staining and immunostaining were performed to examine brain damage,rod formation,cellular apoptosis,and neuronal loss induced by *** activities of caspase-3,and expression levels of cofilin and p-cofilin in mitochondria and cytoplasm after ischemic injury were determined by Western ***:Compared with the EC group,EA significantly improved neuromotor function and cognitive ability after ischemic stroke(P<0.05 or P<0.01).Therapeutic use of EA also resulted in a significant decrease of cofilin rod formation and microtubule-associated protein-2(MAP2)degradation in the cortical penumbra area compared with the EC rats(P<0.01).Furthermore,Western blot analysis showed that EA stimulation significantly inhibited mitochondrial translocation of cofilin and caspase-3 cleavage(P<0.05 or P<0.01).Additionally,brain damage(infarct volume and neuropathy),cellular apoptosis and neuronal loss induced by ischemia were remarkably suppressed by EA in the cortical penumbra of rats(P<0.05 or P<0.01).Conclusion:EA treatment after ischemic stroke may attenuate ischemic brain injury and cellular apoptosis through the regulation of mitochondrial translocation of cofilin,a novel mechanism of EA therapy.

关键词： electroacupuncture cofilin apoptosis ischemic stroke mitochondrial translocation Chinese medicine

Highly selective and efficient photocatalytic NO removal:Charge carrier kinetics and interface molecular process

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Nano Research 2024年第3期17卷 1003-1026页

作者： Huan Shang Hongbao Jia Pengpeng Li Hao Li Wenbin Zhang Shuangjun Li Qing Wang Shuning Xiao Ding Wang Guisheng Li Dieqing Zhang School of Materials and Chemistry University of Shanghai for Science and TechnologyShanghai 200093China The Education Ministry Key lab of Resource Chemistry Joint International Research Laboratory of Resource Chemistry of Ministry of EducationShanghai Key Laboratory of Rare Earth Functional Materialsand Shanghai Frontiers Science Center of Biomimetic CatalysisShanghai Normal UniversityShanghai 200234China School of Environmental Science and Engineering Shanghai Jiao Tong UniversityShanghai 200240China

The widespread nitrogen oxides(NOx,mainly in NO)in the atmosphere have threatened human health and ecological *** dilute NO(ppb)is difficult to efficiently remove via the traditional process due to its characteristics of low concentration,wide range,large total amount,*** can utilize solar energy to purify NO pollutants under mild conditions,but its application is limited due to the low selectivity of nitrate and poor activity of NO *** underlying reason is that the interface mechanism of NO oxidation is not clearly understood,which leads to the inability to accurately regulate the NO oxidation ***,the recent advances in the photocatalytic oxidation of NO are ***,the common strategies to effectively regulate carrier dynamics such as morphology control,facet engineering,defect engineering,plasma coupling,heterojunction and single-atom catalysts are ***,the progress of enhancing the adsorption and activation of reactants such as NO and O_(2) during NO oxidation is described in detail,and the corresponding NO oxidation mechanisms are ***,the challenges and prospects of photocatalytic NO oxidation are presented in term of nanotechnology for air pollution *** review can shed light on the interface mechanism of NO oxidation and provide illuminating information on designing novel catalysts for efficient NOx control.

关键词： nitrogen oxide(NO)oxidation photocatalysis NO/O_(2)activation charge carrier kinetics interfacial mechanism

miR-146a impedes the anti-aging effect of AMPK via NAMPT suppression and NAD^(+)/SIRT inactivation

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Signal Transduction and Targeted Therapy 2022年第4期7卷 1181-1193页

作者： Hui Gong Honghan Chen Peng Xiao Ning Huang Xiaojuan Han Jian Zhang Yu Yang Tiepeng Li Tingting Zhao Haoran Tai Weitong Xu Gongchang Zhang Chuhui Gong Ming Yang Xiaoqiang Tang Hengyi Xiao The lab of Aging Research National Clinical Research Center for GeriatricsState Key Laboratory of BiotherapyWest China HospitalSichuan University1 Keyuan 4 RoadGaopeng AvenueChengdu 610093China Key laboratory of birth defects and Related Diseases of Women and Children of MOE State Key Laboratory of BiotherapyWest China Second University HospitalSichuan UniversityChengdu 610041China

Nicotinamide adenine dinucleotide(NAD^(+))is indispensable for the anti-aging activity of the sirtuin(SIRT)family *** protein kinase(AMPK)upregulates NAD^(+)synthesis and SIRT activity in a nicotinamide phosphoribosyltransferase(NAMPT)-dependent ***,the molecular mechanisms that affect AMPK-driven NAMPT expression and NAD^(+)/SIRT activation remain *** this study,we tried to identify senescence-associated microRNAs(miRNAs)that negatively regulate the cascade linking AMPK and NAMPT ***-screening experiments showed that the expression of miR-146a increased in senescent cells but decreased following AMPK ***,miR-146a overexpression weakened the metforminmediated upregulation of NAMPT expression,NAD^(+)synthesis,SIRT activity,and senescence protection,whereas treatment with the miR-146a inhibitor reversed this ***,these findings were observed both in vitro and in ***,miR146a directly targeted the 3′-UTR of Nampt mRNA to reduce the expression of *** activators metformin and 5-aminoimidazole-4-carboxamide(AICAR)hindered miR-146a expression at the transcriptional level by promoting IκB kinase(IKK)phosphorylation to attenuate nuclear factor-kappaB(NF-κB)*** findings identified a novel cascade that negatively regulates the NAD^(+)/SIRT pathway by suppressing miR-146a-mediated NAMPT ***,our results showed that miR-146a impedes the anti-aging effect of *** mutual inhibitory relationship between miR-146a and AMPK enriches our understanding of the molecular connections between AMPK and SIRT and provides new insight into miRNA-mediated NAD^(+)/SIRT regulation and an intervention point for the prevention of aging and age-related diseases.

关键词： miR NAMPT prevention

A novel inhibitor of ARfl and ARv7 induces protein degradation to overcome enzalutamide resistance in advanced prostate cancer

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Acta Pharmaceutica Sinica B 2022年第11期12卷 4165-4179页

作者： Yan Li Ya Chu Guangjiang Shi Xiaobin Wang Wanli Ye Chun Shan Dajia Wang Di Zhang Wei He Jingwei Jiang Shuqian Ma Yuhong Han Zhili Zhao Shijia Du Zhen Chen Zhiyu Li Yong Yang Chen Wang Xi Xu Hongxi Wu Center for New Drug Safety Evaluation and Research State Key Laboratory of Natural MedicinesChina Pharmaceutical UniversityNanjing 211198China School of Life Science and Technology China Pharmaceutical UniversityNanjing 211198China School of Pharmacy China Pharmaceutical UniversityNanjing 211198China Jiangsu Key lab of Drug screening China Pharmaceutical UniversityNanjing 211198China

Enzalutamide(ENZ) is a second-generation androgen receptor(AR) antagonist used for the treatment of castration-resistant prostate cancer(CRPC) and reportedly prolongs survival time within a year of starting therapy. However, CRPC patients can develop ENZ resistance(ENZR), mainly driven by abnormal reactivation of AR signaling, involving increased expression of the full-length AR(ARfl)or dominantly active androgen receptor splice variant 7(ARv7) and ARfl/ARv7 heterodimers. There is currently no efficient treatment for ENZR in CRPC. Herein, a small molecule LLU-206 was rationally designed based on the ENZ structure and exhibited potent inhibition of both ARfl and constitutively active ARv7 to inhibit PCa proliferation and suppress ENZR in CRPC. Mechanically, LLU-206 promoted ARfl/ARv7 protein degradation and decreased ARfl/ARv7 heterodimers through mouse double minute 2-mediated ubiquitination. Finally, LLU-206 exhibited favorable pharmacokinetic properties with poor permeability across the blood-brain barrier, leading to a lower prevalence of adverse effects, including seizure and neurotoxicity, than ENZ-based therapies. In a nutshell, our findings demonstrated that LLU-206 could effectively inhibit ARfl/ARv7-driven CRPC by dual-targeting of ARfl/ARv7 heterodimers and protein degradation, providing new insights for the design of new-generation AR inhibitors to overcome ARfl/ARv7-driven CRPC.

关键词： Drug resistance Enzalutamide Castration-resistant prostate cancer Androgen receptorsplice variant7 Heterodimers Degradation

Big data and artificial intelligence discover novel drugs targeting proteins without 3D structure and overcome the undruggable targets

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Stroke & Vascular Neurology 2020年第4期5卷 381-387页

作者： Huiqin He Benquan Liu Hongyi Luo Tingting Zhang Jingwei Jiang Jiangsu Key lab of Drug screening China Pharmaceutical UniversityNanjingChina Institute of Pharmacologic Science China Pharmaceutical UniversityNanjingChina

The discovery of targeted drugs heavily relies on three-dimensional(3D)structures of target *** the 3D structure of a protein target is unknown,it is very difficult to design its corresponding targeted *** the 3D structures of some proteins(the so-called undruggable targets)are known,their targeted drugs are still *** increasing crystal/cryogenicelectron microscopy structures are deposited in Protein Data Bank,it is much more possible to discover the targeted ***,it is also highly probable to turn previous undruggable targets into druggable ones when we identify their hidden allosteric *** this review,we focus on the currently available advanced methods for the discovery of novel compounds targeting proteins without 3D structure and how to turn undruggable targets into druggable ones.

关键词： structure overcome drugs

Surface repair of wide-bandgap perovskites for high-performance all-perovskite tandem solar cells

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Journal of Energy Chemistry 2024年第6期93卷 64-70,I0003页

作者： Xiaojing Lv Weisheng Li Jin Zhang Yujie Yang Xuefei Jia Yitong Ji Qianqian Lin Wenchao Huang Tongle Bu Zhiwei Ren Canglang Yao Fuzhi Huang Yi-Bing Cheng Jinhui Tong State Key laboratory of Advanced Technology for Materials Synthesis and Processing Wuhan University of TechnologyWuhan 430070HubeiChina Key lab of Artificial Micro-and Nano-Structures of Ministry of Education of China School of Physics and TechnologyWuhan UniversityWuhan 430072HubeiChina Department of Electrical and Electronic Engineering Photonics Research Institute(PRI)Research Institute for Intelligent Wearable Systems(iWEAR)The Hong Kong Polytechnic University999077Hong KongChina laboratory of Advanced Materials Fudan UniversityShanghai 200438China Xianhu laboratory of the Advanced Energy Science and Technology Guangdong laboratory Foshan 528200GuangdongChina

Wide-bandgap(WBG)perovskite solar cells(PSCs)play a fundamental role in perovskite-based tandem solar ***,the efficiency of WBG PSCs is limited by significant open-circuit voltage losses,which are primarily caused by surface *** this study,we present a novel method for modifying surfaces using the multifunctional S-ethylisothiourea hydrobromide(SEBr),which can passivate both Pb^(-1)and FA^(-1)terminated surfaces,Moreover,the SEBr upshifted the Fermi level at the perovskite interface,thereby promoting carrier *** proposed method was effective for both 1.67 and 1.77 eV WBG PSCs,achieving power conversion efficiencies(PCEs)of 22.47%and 19.90%,respectively,with V_(OC)values of 1.28 and 1.33 V,along with improved film and device *** this advancement,we were able to fabricate monolithic all-perovskite tandem solar cells with a champion PCE of 27.10%,This research offers valuable insights for passivating the surface trap states of WBG perovskite through rational multifunctional molecular engineering.

关键词： Wide-bandgap perovskite Surface defect Multifunctional molecule All-perovskite tandem solar cells