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Exploring noncoding variants in genetic diseases:from detection to functional insights

Journal of Genetics and Genomics 2024年第2期51卷 111-132页

作者： ke Wu Fengxiao Bu Yang Wu Gen Zhang Xin Wang Shunmin He Mo-Fang Liu Runsheng Chen Huijun yuan Institute of Rare Diseases West China Hospital of Sichuan UniversityChengduSichuan 610041China key Laboratory of Systems Health Science of Zhejiang Province School of Life ScienceHangzhou Institute for Advanced StudyUniversity of Chinese Academy of SciencesHangzhouZhejiang 310024China key Laboratory of RNA Biology Center for Big Data Research in HealthInstitute of BiophysicsChinese Academy of SciencesBeijing 100101China University of Chinese Academy of Sciences Beijing 100049China State key Laboratory of Molecular Biology State Key Laboratory of Cell BiologyShanghai Key Laboratory of Molecular AndrologyShanghai Institute of Biochemistry and Cell BiologyCenter for Excellence in Molecular Cell ScienceChinese Academy of SciencesShanghai 200031China

Previous studies on genetic diseases predominantly focused on protein-coding variations, overlooking the vast noncoding regions in the human genome. The development of high-throughput sequencing technologies and functional genomics tools has enabled the systematic identification of functional noncoding variants. These variants can impact gene expression, regulation, and chromatin conformation, thereby contributing to disease pathogenesis. Understanding the mechanisms that underlie the impact of noncoding variants on genetic diseases is indispensable for the development of precisely targeted therapies and the implementation of personalized medicine strategies. The intricacies of noncoding regions introduce a multitude of challenges and research opportunities. In this review, we introduce a spectrum of noncoding variants involved in genetic diseases, along with research strategies and advanced technologies for their precise identification and in-depth understanding of the complexity of the noncoding genome. We will delve into the research challenges and propose potential solutions for unraveling the genetic basis of rare and complex diseases.

关键词： Noncoding variation Genetic disease Research approach Challenge

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New phenylbutenoids and terpene glycosides from Ginkgo biloba leaves

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Chinese Journal of Natural Medicines 2024年第2期22卷 161-170页

作者： SUN Zeshi LIN Shan WU Zhi-Li DONG Hong-yuan XU Xi-ke LI Hui-Liang WANG Jinxin School of Pharmacy Second Military Medical UniversityShanghai 200433China State key Laboratory of New Drug and Pharmaceutical Process Shanghai Institute of Pharmaceutical IndustryChina State Institute of Pharmaceutical IndustryShanghai 201203China

Our continued works on the chemical constituents of Ginkgo biloba(***)leaves has led to the isolation of two novel phenylbutenoids(1,2),along with five previously unidentified terpene glycosides(3−7).Among them,compounds 1 and 2 represent unique(Z)-phenylbutenoids,3−6 are megastigmane glycosides,and 7 is identified as a rare bilobanone glycoside(Fig.1).This study marks the first reported isolation of phenylbutenoid and bilobanone glycoside from *** chemical structures of these compounds were elucidated through extensive spectroscopic analysis,including HR-ESI-MS and various 1D and 2D NMR ***,the absolute configurations of these molecules were determined using Mosher’s method,ECD experiments,and Cu-KαX-ray crystallographic analyses.

关键词： Ginkgo biloba Phenylbutenoid Megastigmane glycoside Bilobanone glycoside

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Quaternary integrative stratigraphy,biotas,and paleogeographical evolution of the Qinghai-Tibetan Plateau and its surrounding areas

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Science China Earth Sciences 2024年第4期67卷 1360-1394页

作者： Yong WANG Mianping ZHENG yuan LING Shuyuan XIANG Zhaogang SHAO kexin ZHANG Xue ke Xiao LIN Fang HAN Jian’en HAN Institute of Geology Chinese Academy of Geological SciencesBeijing 100037China Institute of Mineral Resources Chinese Academy of Geological SciencesBeijing 100037China Faculty of Earth Sciences China University of GeosciencesWuhan 430074China Chinese Academy of Geological Sciences Beijing 100037China Institute of Geological Survey China University of GeosciencesWuhan 430074China School of Earth Sciences East China University of TechnologyNanchang 330013China Institute of Geomechanics Chinese Academy of Geological SciencesBeijing 100081China

The Quaternary strata on the Qinghai-Tibet Plateau contain rich information about the paleoclimate and environmental evolution,record the evolution process of the Quaternary regional tectonics,paleogeography,and geomorphology of the plateau,and are extremely important areas for studying the Quaternary geological events and regional environmental *** to a comprehensive analysis of the regional stratigraphic data and the development and evolution characteristics of the biota,based on the differences in the lithostratigraphic units,sedimentary characteristics,landforms,and drainage systems,the Quaternary strata on the Qinghai-Tibet Plateau and its surrounding areas are divided into five stratigraphic regions:the Tarim region,Loess Plateau region,Qinghai-Tibet Plateau region,Yunnan-Guizhou Plateau region,and India-Ganges *** Qinghai-Tibet Plateau stratigraphic region is divided into seven stratigraphic sub-regions:the West Kunlun-Karakorum,AltunQilian Mountains,Qaidam-Hehuang,East Kunlun-Bayan Har,Qiangtang,East Xizang-West Yunnan-West Sichuan,and Gangdise-Himalayan *** paper briefly describes the lithostratigraphic units of the seven stratigraphic sub-regions of the Qinghai-Tibet *** to the lithostratigraphic sequence and its sedimentary characteristics,stratigraphic contact relationship,formation age,and evolution of the biota in each stratigraphic sub-region,the Quaternary tectonic paleogeographic evolution of the Qinghai-Tibet Plateau is divided into four stages.(1)The inherited differential uplift stage since the Pliocene(2.6-1.8/1.5 Ma):the regional sedimentary differences were significant,and the stratigraphic distribution was limited,the alluvial-proluvial sandy conglomerate was widely developed along the piedmont,and fluvial and lacustrine deposits were developed in the low-lying areas between the mountains.(2)The mountain range flattening stage(1.8/1.5-1.2/0.8 Ma):the erosion unconformity surfaces around the pl

关键词： Quaternary stratigraphic sedimentary

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Suppression of the regrowth interface leakage current in AlGaN/GaN HEMTs by Fe doped GaN substrate

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Science China(Information Sciences) 2024年第6期67卷 461-462页

作者： Xiao WANG Zhi-Yu LIN yuan-Hang SUN Long YUE Yu-Min ZHANG Jian-Feng WANG ke XU School of Nano-Tech and Nano-Bionics University of Science and Technology of China Suzhou Institute of Nano-tech and Nano-bionics Chinese Academy of Sciences Information Materials Research Department Suzhou laboratory Suzhou Nanowin Science and Technology Co. Ltd. Jiangsu Institute of Advanced Semiconductors

In the process of homoepitaxy AlGaN/GaN heterojunction by metal-organic chemical vapor deposition (MOCVD) on free-standing substrates,Si impurities from the air and reaction chamber accumulate at the regrowth interfac...

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Multi-omics analyses provide insights into the evolutionary history and the synthesis of medicinal components of the Chinese wingnut

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Plant Diversity 2024年第3期46卷 309-320页

作者： Zi-Yan Zhang He-Xiao Xia Meng-Jie yuan Feng Gao Wen-Hua Bao lan Jin Min Li Yong Li College of Life Science and Technology Inner Mongolia Normal UniversityHohhot 010020China key Laboratory of Biodiversity Conservation and Sustainable Utilization in Mongolian Plateau for College and University of Inner Mongolia Autonomous Region Hohhot 010022China College of landscape and Art Henan Agricultural UniversityZhengzhou 450002China State key Laboratory of Tree Genetics and Breeding Chinese Academy of ForestryBeijing 100091China

Chinese wingnut(Pterocarya stenoptera)is a medicinally and economically important tree species within the family ***,the lack of high-quality reference genome has hindered its in-depth *** this study,we successfully assembled its chromosome-level genome and performed multiomics analyses to address its evolutionary history and synthesis of medicinal components.A thorough examination of genomes has uncovered a significant expansion in the Lateral Organ Boundaries Domain gene family among the winged group in *** notable increase may be attributed to their frequent exposure to flood-prone *** further differentiation between Chinese wingnut and Cyclocarya paliurus,significant positive selection occurred on the genes of NADH dehydrogenase related to mitochondrial aerobic respiration in Chinese wingnut,enhancing its ability to cope with waterlogging *** genomic analysis revealed Chinese wingnut evolved more unique genes related to arginine synthesis,potentially endowing it with a higher capacity to purify nutrient-rich water *** of terpene synthase families enables the production of increased quantities of terpenoid volatiles,potentially serving as an evolved defense mechanism against herbivorous *** combined transcriptomic and metabolomic analysis,we identified the candidate genes involved in the synthesis of terpenoid *** study offers essential genetic resources for Chinese wingnut,unveiling its evolutionary history and identifying key genes linked to the production of terpenoid volatiles.

关键词： Genome Medicinal components Metabolome Pterocarya stenoptera Transcriptome

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Pretreatment and analysis techniques development of TKIs in biological samples for pharmacokinetic studies and therapeutic drug monitoring

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Journal of Pharmaceutical Analysis 2024年第4期14卷 439-459页

作者： lan Chen yuan Zhang Yi-Xin Zhang Wei-Lai Wang De-Mei Sun Peng-Yun Li Xue-Song Feng Yue Tan School of Pharmacy China Medical UniversityShenyang110122China Institute of Pharmacology and Toxicology Institution National Engineering Research Center for Strategic DrugsBeijing100850China Department of Gastroenterology Shengjing Hospital of China Medical UniversityShenyang110022China

Tyrosine kinase inhibitors(TKIs)have emerged as the first-line small molecule drugs in many cancer therapies,exerting their effects by impeding aberrant cell growth and proliferation through the modulation of tyrosine kinase-mediated signaling ***,there exists a substantial inter-individual variability in the concentrations of certain TKIs and their metabolites,which may render patients with compromised immune function susceptible to diverse infections despite receiving theoretically efficacious anticancer treatments,alongside other potential side effects or adverse ***,an urgent need exists for an up-to-date review concerning the biological matrices relevant to bioanalysis and the sampling methods,clinical pharmacokinetics,and therapeutic drug monitoring of different *** paper provides a comprehensive overview of the advancements in pretreatment methods,such as protein precipitation(PPT),liquid-liquid extraction(LLE),solid-phase extraction(SPE),micro-SPE(μ-SPE),magnetic SPE(MSPE),and vortex-assisted dispersive SPE(VA-DSPE)achieved since *** also highlights the latest analysis techniques such as newly developed high performance liquid chromatography(HPLC)and high-resolution mass spectrometry(HRMS)methods,capillary electrophoresis(CE),gas chromatography(GC),supercritical fluid chromatography(SFC)procedures,surface plasmon resonance(SPR)assays as well as novel nanoprobes-based biosensing *** addition,a comparison is made between the advantages and disadvantages of different approaches while presenting critical challenges and prospects in pharmacokinetic studies and therapeutic drug monitoring.

关键词： TKIs Microextraction technique HRMS methods Pharmacokinetic studies Therapeutic drug monitoring

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Hepatitis B virus core protein as a Rab-GAP suppressor driving liver disease progression

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Science Bulletin 2024年第16期69卷 2580-2595页

作者： Yu Su Fan Bu yuanfei Zhu Le Yang Qiong Wu yuan Zheng Jianjin Zhao Lin Yu Nan Jiang Yongxiang Wang Jian Wu Youhua Xie Xinxin Zhang Yueqiu Gao ke lan Qiang Deng key Laboratory of Medical Molecular Virology(MOE/NHC/CAMS) School of Basic Medical SciencesShanghai Institute of Infectious Disease and BiosecurityFudan UniversityShanghai 200032China Shanghai Frontiers Science Center of Pathogenic Microorganisms and Infection Fudan UniversityShanghai 200032China Department of Infectious Diseases Ruijin HospitalShanghai Jiao Tong University School of MedicineShanghai 200025China Laboratory of Cellular Immunity Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese MedicineShanghai 201203China State key Laboratory of Virology College of Life SciencesWuhan UniversityWuhan 430072China

Chronic hepatitis B virus(HBV)infection can lead to advanced liver ***,we establish a transgenic murine model expressing a basic core promoter(BCP)-mutated HBV *** previous studies on the wild-type virus,the BCP-mutated HBV transgenic mice manifest chronic liver injury that culminates in cirrhosis and tumor development with ***,agonistic anti-Fas treatment induces fulminant hepatitis in these mice even at a negligible *** the BCP mutant exhibits a striking increase in HBV core protein(HBc)expression,we posit that HBc is actively involved in hepatocellular ***,HBc interferes with Fis1-stimulated mitochondrial recruitment of Tre-2/Bub2/Cdc16 domain family member 15(TBC1D15).HBc may also inhibit multiple Rab GTPase-activating proteins,including Rab7-specific TBC1D15 and TBC1D5,by binding to their conserved catalytic *** cells under mitochondrial stress,HBc thus perturbs mitochondrial dynamics and prevents the recycling of damaged ***,sustained HBc expression causes lysosomal consumption via Rab7 hyperactivation,which further hampers late-stage autophagy and substantially increases apoptotic cell ***,we show that adenovirally expressed HBc in a mouse model is directly cytopathic and causes profound liver injury,independent of antigen-specific immune *** findings reveal an unexpected cytopathic role of HBc,making it a pivotal target for HBV-associated liver disease *** BCP-mutated HBV transgenic mice also provide a valuable model for understanding chronic hepatitis B progression and for the assessment of therapeutic strategies.

关键词： Apoptosis Basic core promoter Mitophagy Rab7 Transgenic mice

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Laparoscopic sacrocolpopexy for treatment of pelvic organ prolapse,a prospective observation cohort with follow-up time over 7 years

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Chinese Medical Journal 2024年第12期137卷 1477-1479页

作者： Jianbin Guo Xiaochen Song Shuo Liang yuan Wang Yang Ye Qianqian Gao Juan Chen lan Zhu Department of Obstetrics and Gynecology Peking Union Medical College HospitalChinese Academy of Medical Sciences&Peking Union Medical CollegeNational Clinical Research Center for Obstetric&Gynecologic DiseasesBeijing 100730China

To the Editor:Pelvic organ prolapse(POP)is a common pelvic floor disorder in older women and is responsible for a significant decrease in health-related quality of *** the increased longevity of women,POP is becoming a major health concern.[1]Laparoscopic sacrocolpopexy(LSC)is a common mesh-based surgical approach for severe prolapse,and a high cure rate and few complications have been reported.[2]To our knowledge,the long-term durability,complications,and pelvic floor symptoms after LSC have not been fully evaluated in detail.A few studies assessed the 5-year outcome after LSC,but these reports were limited by their retrospective design,uneven follow-up time,or inconsistent outcome assessment.

关键词： prolapse pelvic Laparoscopic

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Transient breathing dynamics during extinction of dissipative solitons in mode‑locked fiber lasers

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Frontiers of Optoelectronics 2024年第1期17卷 9-19页

作者： Zichuan yuan Si Luo ke Dai Xiankun Yao Chenning Tao Qiang Ling Yusheng Zhang Zuguang Guan Daru Chen Yudong Cui Hangzhou Institute of Advanced Studies Zhejiang Normal UniversityHangzhou 311231China State key Laboratory of Modern Optical Instrumentation College of Optical Science and EngineeringZhejiang UniversityHangzhou 310027China Wuhan National Laboratory for Optoelectronics Huazhong University of Science and TechnologyWuhan 430074China key Laboratory of Optical Information Detection and Display Technology of Zhejiang Zhejiang Normal UniversityJinhua 321004China School of Physics Northwest UniversityXi’an 710127China

The utilization of the dispersive Fourier transformation approach has enabled comprehensive observation of the birth process of dissipative solitons in fiber ***,there is still a dearth of deep understanding regarding the extinction process of dissipative *** this study,we have utilized a combination of experimental and numerical techniques to thoroughly examine the breathing dynamics of dissipative solitons during the extinction process in an Er-doped mode-locked fiber *** results demonstrate that the transient breathing dynamics have a substantial impact on the extinction stage of both steady-state and breathing-state dissipative *** duration of transient breathing exhibits a high degree of sensitivity to variations in pump *** simulations are utilized to produce analogous breathing dynamics within the framework of a model that integrates equations characterizing the population inversion in a mode-locked *** results corroborate the role of Q-switching instability in the onset of breathing ***,these findings offer new possibilities for the advancement of various operational frameworks for ultrafast lasers.

关键词： Breathing soliton Fiber laser Dispersive Fourier transform Q-switched instability

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Inhibition of hepatitis B virus via selective apoptosis modulation by Chinese patent medicine Liuweiwuling Tablet

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World Journal of Gastroenterology 2024年第13期30卷 1911-1925页

作者： Fei-Lin Ge Yan Yang lan-lan Si yuan-Hua Li Meng-Zhen Cao Jun Wang Zhao-Fang Bai Zhi-Gang Ren Xiao-He Xiao Yan Liu Department of Chinese Medicine State Key Laboratory of Antiviral DrugsThe First Affiliated Hospital of Zhengzhou UniversityZhengzhou 450052Henan ProvinceChina The Fifth Medical Center of Chinese PLA General Hospital Beijing 100039China College of Traditional Chinese Medicine Chongqing Medical UniversityChongqing 400010China Beijing key Laboratory of Emerging Infectious Diseases Peking University Ditan Teaching HospitalBeijing 100015China Department of Infectious Diseases State Key Laboratory of Antiviral Drugsthe First Affiliated Hospital of Zhengzhou UniversityZhengzhou 450052Henan ProvinceChina

BACKGROUND Liuweiwuling Tablet(LWWL)is a Chinese patent medicine approved for the treatment of chronic inflammation caused by hepatitis B virus(HBV)*** studies have indicated an anti-HBV effect of LWWL,specifically in terms of antigen inhibition,but the underlying mechanism remains *** To investigate the potential mechanism of action of LWWL against *** In vitro experiments utilized three HBV-replicating and three non-HBV-replicating cell *** in vivo experiment involved a hydrodynamic injectionmediated mouse model with HBV *** and metabolomics were used to investigate the underlying mechanisms of action of *** In HepG2.1403F cells,LWWL(0.8 mg/mL)exhibited inhibitory effects on HBV DNA,hepatitis B surface antigen and pregenomic RNA(pgRNA)at rates of 51.36%,24.74%and 50.74%,*** inhibition rates of LWWL(0.8mg/mL)on pgRNA/covalently closed circular DNA in HepG2.1403F,HepG2.2.15 and HepG2.A64 cells were 47.78%,39.51%and 46.74%,*** of transcriptomics and metabolomics showed that the anti-HBV effect of LWWL was primarily linked to pathways related to apoptosis(PI3K-AKT,CASP8-CASP3 and P53 pathways).Apoptosis flow analysis revealed that the apoptosis rate in the LWWL-treated group was significantly higher than in the control group(CG)among HBV-replicating cell lines,including HepG2.2.15(2.92%±1.01%vs 6.68%±2.04%,P0.05),L02 cells(5.49%±0.80%vs 5.48%±1.01%,P>0.05)and LX2 cells(6.29%±1.54%vs 6.29%±0.88%,P>0.05).TUNEL staining revealed a significantly higher apoptosis rate in the LWWL-treated group than in the CG in the HBVreplicating mouse model,while no noticeable difference in apoptosis rates between the two groups

关键词： Hepatitis B virus Chinese patent medicine Antiviral activity Antiviral mechanism Selective apoptosis

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