检索结果-南通市图书馆

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

在线全文

学校读者我要写书评

暂无评论

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

Matrix-Mediated Color-Tunable Ultralong Organic Room Temperature Phosphorescence of 7H-Benzo[c]carbazole Derivatives

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

CCS Chemistry 2024年第3期6卷 798-811页

作者： Chen Qian Xue Zhang Zhimin Ma Xiaohua Fu Zewei Li Huiwen Jin Mingxing Chen Hong Jiang Zhiyong Ma Beijing Advanced Innovation Center for Soft Matter Science and Engineering State Key Laboratory of Organic–Inorganic CompositesCollege of Chemical EngineeringBeijing University of Chemical TechnologyBeijing 100029 Beijing National laboratory for molecular Sciences College of Chemistry and Molecular EngineeringPeking UniversityBeijing 100871

Building on the recent systematic research on 1Hbenzo[f]indole(Bd),an important advancement in constructing ultralong organic room temperature(UORTP)materials with a universal strategy via a readily obtained unit(7H-Benzo[c]carbazole,BCz)is proposed in this *** powders of BCz and its derivatives merely exhibit blue fluorescence at ambient ***,when BCz and its derivatives are dispersed into polymer or powder matrixes,strong photo-activated green UORTP can be observed from their doped systems at room ***,the UORTP color can be tuned between green and yellow depending on the *** ultralong phosphorescence originates from the generation of charge-separated states via *** matrixes play a key role in both stabilizing charge-separated states and controlling UORTP *** interestingly,when using polymethyl methacrylate as matrix,the doped films achieve stronger photo-activated ultralong phosphorescence underwater than in air at room *** Bd,BCz achieves better performance not only in ultralong phosphorescence properties but also in practical *** work gains a deeper insight into the mechanism of UORTP and paves a new approach to applying organic phosphorescent materials to underwater coating and imaging.

关键词： 7H-Benzo[c]carbazole ultralong organic room temperature phosphorescence ion radical matrix-mediated color tunning underwater application

Examination of wnt signaling mediated melanin transport and shell color formation in Pacific oyster(Crassostrea gigas)

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Marine Life Science & Technology 2024年第3期6卷 488-501页

作者： Yue Min Qi Li Hong Yu Shaojun Du Key laboratory of Mariculture Ministry of Educationand College of FisheriesOcean University of ChinaQingdao 266003China laboratory for Marine Fisheries Science and Food Production Processes Qingdao National Laboratory for Marine Science and TechnologyQingdao 266237China Institute of Marine and Environmental Technology Department of Biochemistry and Molecular BiologyUniversity of Maryland School of MedicineBaltimore 21240USA

Mollusca exhibit remarkable diversity in shell coloration,attributed to the presence of melanin,a widely distributed pigment with various essential roles,such as mechanical strengthening,antioxidation and ***,the regulatory network governing melanogenesis and melanin transport in molluscs remains poorly *** this study,we conducted a systematic analysis of melanin distribution and transport in the Pacific oyster,utilizing light microscopy and high-resolution transmission electron *** addition,we characterized CgWnt1 and CgWnt2b-a in Crassostrea gigas,and analyzed Wnt signaling in melanocyte *** analysis revealed that these genes were predominantly expressed in the mantle of black-shelled individuals,particularly in the outer fold of the ***,we employed RNA interference and inhibitors to specifically inhibit Wnt signaling in both in vivo and in *** results revealed impaired melanogenesis and diminished tyrosinase activity upon Wnt signaling *** findings suggest the crucial role of Wnt ligands and downstream factors in *** summary,our study provides valuable insights into the regulatory mechanism of shell pigmentation in *** demonstrating the promotion of melanogenesis through Wnt signaling modulation,we contribute to a better understanding of the complex processes underlying molluscan melanin production and shell coloration.

关键词： Melanogenesis Melanosome trafficking WIF-1

Allotetraploidization event of Coptis chinensis shared by all Ranunculales

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Horticultural Plant Journal 2024年第1期10卷 288-303页

作者： Yan Zhang Weina Ge Jia Teng Yanmei Yang Jianyu Wang Zijian Yu Jiaqi Wang Qimeng Xiao Junxin Zhao Shaoqi Shen Yishan Feng Shoutong Bao Yu Li Yuxian Li Tianyu Lei Yuxin Pan Lan Zhang Jinpeng Wang Department of Bioinformatics School of Life SciencesNorth China University of Science and TechnologyTangshanHebei 063000China School of Life Sciences North China University of Science and TechnologyTangshanHebei 063000China State Key laboratory of systematic and Evolutionary Botany Institute of BotanyChinese Academy of ScienceBeijing 100093China University of Chinese Academy of Sciences Beijing 100049China

Coptis chinensis Franch.,also named Chinese goldthread is a member of Ranunculaceae in the order Ranunculales and represents an important lineage of early eudicots with traditional medicinal *** our study,by using syntenic analysis combined with phylogenomic analysis of *** and four other representative genomes from basal and core eudicots,we confirmed that the WGD event in *** was shared by Aquilegia coerulea and Papaver somniferum *** quickly occurred after Ranunculales diverged from other eudicots,likely a Ranunculales common tetraploidization(RCT).The synonymous nucleotide substitutions at synonymous sites distribution of syntenic blocks across these genomes showed that the evolutionary rate of the *** genome is faster than that of the *** genome by approximately 13.7%,possibly due to Papaveraceaes having an additional special tetraploidization event(PST).After Ks correction,the RCT dated to 115—130 million years ago(MYA),which was close to the divergence of Ranunculaceaes and Papaveraceaes approximately115.45—130.51 ***,we identified homologous genes related to polyploidization and speciation and constructed multiple sequence alignments with different reference ***,the event-related subgenomes in the basal genomes all showed genomic fractionation bias,suggesting a likely allopolyploid nature of the RCT,PST and T-Alpha and T-Beta events in Tetracentron *** addition,we detected that the sixteen P450 subfamilies were markedly expanded in the genomes of Ranunculales,and most of them were related to the RCT and PST *** constructed a new platform for Early Eudicot Comparative Genomic Research(http://***/***)to store more *** summary,our findings support the WGD of *** shared by Ranunculales,which is likely an allotetraploidization *** present effort offered new insights into the evolution of key polyploidization events and the genes related to second

关键词： Coptis chinensis Ranunculales Polyploidization Genomic fractionation P450 genes

Boosting synergism of chemo- and immunotherapies via switching paclitaxel-induced apoptosis to mevalonate metabolism-triggered ferroptosis by bisphosphonate coordination lipid nanogranules

在线全文

学校读者我要写书评

暂无评论

Acta Pharmaceutica Sinica B 2024年第2期14卷 836-853页

作者： Ge Song Minghui Li Shumin Fan Mengmeng Qin Bin Shao Wenbing Dai Hua Zhang Xueqing Wang Bing He Qiang Zhang Beijing Key laboratory of molecular Pharmaceutics and New Drug Delivery Systems School of Pharmaceutical SciencesPeking UniversityBeijing 100191China State Key laboratory of Natural and Biomimetic Drugs School of Pharmaceutical SciencesPeking UniversityBeijing 100191China Department of Medical Oncology Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education)Peking University Cancer HospitalBeijing 100142China

Conventional chemotherapy based on cytotoxic drugs is facing tough challenges recently following the advances of monoclonal antibodies and molecularly targeted *** is critical to inspire new potential to remodel the value of this classical therapeutic ***,we fabricate bisphosphonate coordination lipid nanogranules(BC-LNPs)and load paclitaxel(PTX)to boost the chemo-and immuno-therapeutic synergism of cytotoxic *** in BC-LNPs@PTX,a bisphosphonate to block mevalonate metabolism,works as both the structure and drug constituent in nanogranules,where alendronate coordinated with calcium ions to form the particle *** synergy of alendronate enhances the efficacy of paclitaxel,suppresses tumor metastasis,and alters the cytotoxic *** from the paclitaxel-induced apoptosis,the involvement of alendronate inhibits the mevalonate metabolism,changes the mitochondrial morphology,disturbs the redox homeostasis,and causes theaccumulation of mitochondrial ROS and lethal lipid peroxides(LPO).These factors finally trigger the ferroptosis of tumor cells,an immunogenic cell death mode,which remodels the suppressive tumor immune microenvironment and synergizes with ***,by switching paclitaxel-induced apoptosis to mevalonate metabolism-triggered ferroptosis,BC-LNPs@PTX provides new insight into the development of cytotoxic drugs and highlights the potential of metabolism regulation in cancer therapy.

关键词： Bisphosphonate coordinationlipid nanogranules Ferroptosis Mevalonatemetabolism Mitochondrial metabolism Nano-systematic biology

Mitigating the Reconstruction of Metal Sulfides for Ultrastable Oxygen Evolution at High Current Density

在线全文

学校读者我要写书评

暂无评论

CCS Chemistry 2024年第1期6卷 137-148页

作者： Shuai Niu Tang Tang Yuanju Qu Yuyun Chen Hao Luo Hui Pan Wen-Jie Jiang Jianan Zhang Jin-Song Hu Beijing National laboratory for molecular Sciences CAS Key Laboratory of Molecular Nanostructure and NanotechnologyInstitute of ChemistryChinese Academy of SciencesBeijing 100190 Joint Key laboratory of the Ministry of Education Institute of Applied Physics and Materials EngineeringUniversity of MacaoMacao SAR 999078 Department of Chemical Engineering University of MelbourneParkvilleVictoria 3010 College of Materials Science and Engineering Zhengzhou UniversityZhengzhou 450001 School of Chemical Sciences University of Chinese Academy of SciencesBeijing 100049 Dalian National laboratory for Clean Energy Dalian 116023

Metal sulfides are emerging highly active electrocatalysts for the oxygen evolution reaction(OER),but still suffer from the instability caused by their inevitable reconstruction,especially at industrial-level current ***,it is discovered that Fe-incorporated Ni3S2 nanowires can deliver extraordinary durability with an ultralow potential degradation rate of 0.006 mV/h in alkaline electrolytes made with fresh water and seawater at a benchmark of 500 mA cm^(-2) while meeting the industrial activity requirement for overpotential less than 300 mV(290 mV).systematic experiments and theoretical simulations suggest that after forming the S-doped NiFeOOH shell to boost intrinsic activity,Fe incorporation effectivelymitigates the reconstruction of the Ni_(3)S_(2) nanowire core by restraining Ni oxidation and S dissolution,justifying the *** work highlights the significance of circumventing reconstruction and provides a strategy to explore practical chalcogenides-based OER electrocatalysts.

关键词： oxygen evolution reaction sulfur-doped NiFeOOH NiFe sulfides nanowire ultrastable high current density

Water molecular activity management towards stable Zn anodes

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Science China Chemistry 2024年

作者： Yun Tan Jun Pu Hongpeng Li Dongliang Chao Key laboratory of Functional molecular Solids (Ministry of Education) College of Chemistry and Materials Science Anhui Normal University laboratory of Advanced Materials Fudan University College of Mechanical Engineering Yangzhou University

Zinc-based aqueous batteries(ZABs) have attracted wide interest and become a hot topic in the field of secondary batteries due to their low cost, high safety, and environmental friendliness. However, challenges pertaining to zinc anodes, such as dendrites growth and side reactions, which are associated with the high activity of freedom water molecules in the aqueous electrolyte,significantly hinder the advancement of ZABs. In recent years, strategies aimed at regulating water molecular activity have been demonstrated to address the above issues effectively. Nevertheless, there is a lack of systematic summary regarding the electrolyte engineering and the functional mechanisms for stabilizing zinc anodes from the point of view of water molecular activity management. Hence, this review comprehensively introduces strategies for regulating water activity through the electrolyte engineering to achieve side reaction-suppressed ZABs, including the latest research on aqueous zinc-metal batteries,the origin of critical zinc-related problems, and the development of technological and electrolyte additives. Lastly, various strategies were summarized from different perspectives to improve the performance of zinc metal anodes. This work is expected to present the latest outline and inspire future innovation in electrolyte technologies.

关键词：

A likely paleo-autotetraploidization event shaped the high conservation of Nyssaceae genome

在线全文

同方期刊数据库

学校读者我要写书评

暂无评论

Horticultural Plant Journal 2024年第3期10卷 911-930页

作者： Yishan Feng Zhenyi Wang Qimeng Xiao Jia Teng Jianyu Wang Zijian Yu Jiaqi Wang Qiang Xu Yan Zhang Shaoqi Shen Shoutong Bao Yu Li Zimo Yan Yue Ding Zihan Liu Yuxian Li Tianyu Lei Min Yuan Xiu-Qing Li Jinpeng Wang Department of Bioinformatics School of Life SciencesNorth China University of Science and TechnologyTangshanHebei 063000China Fredericton Research and Development Centre Agriculture and Agri-Food CanadaFrederictonNew Brunswick E3B 4Z7Canada State Key laboratory of systematic and Evolutionary Botany Institute of BotanyChinese Academy of ScienceBeijing 100093China University of Chinese Academy of Sciences Beijing 100049China

Scientific knowledge about the ancestral genome of core eudicot plant kingdom can potentially have profound impacts on both basic and applied research,including evolution,genetics,genomics,ecology,agriculture,forestry,and global *** investigate which plant conserves best the core eudicots common ancestor genome,we compared Arcto-Tertiary relict Nyssaceae and 30 other eudicot plant *** genomes of Davidia involucrata(a known living fossil),Camptotheca acuminata and Nyssa sinensis,one per existent genus of Nyssaceae,were performed comparative genomic *** found that Nyssaceae originated from a single Nyssaceae common tetraploidization event(NCT)-autotetraploidization 28-31 Mya after the core eudicot common hexaploidization(ECH).We identified Nyssaceae orthologous and paralogous genes,determined its chromosomal evolutionary trajectory,and reconstructed the Nyssaceae most recent ancestor *** genome contained the entire seven paleochromosomes and 17 ECH-generated eudicot common ancestor chromosomes and was the slowest in mutation among the analyzed 42 species of 31 plant *** both its high retention of paleochromosomes and its low mutation rate,*** provides the best case in conservation of the core eudicot paleogenome.

关键词： Nyssaceae Polyploidization Multigenome alignment Evolutionary rate Autotetraploidization Karyotype evolution

Synergistic effects of Pleistocene geological and climatic events on complex phylogeographic history of widespread sympatric species of Megaloptera in East Asia

在线全文

学校读者我要写书评

暂无评论

Zoological Research 2024年第5期45卷 1131-1146页

作者： Ai-Li Lin Ming-Ming Zou Li-Jun Cao Fumio Hayashi Ding Yang Xing-Yue Liu Department of Entomology China Agricultural UniversityBeijing 100193China Sanya Institute of China Agricultural University SanyaHainan 572025China International Joint laboratory of Taxonomy and systematic Evolution of Insecta Henan Institute of Science and TechnologyXinxiangHenan 453003China Institute of Plant and Environmental Protection Beijing Academy of Agriculture and Forestry SciencesBeijing 100097China Department of Biology Tokyo Metropolitan UniversityHachioji-shiTokyo 192-0397Japan

Unraveling the phylogeographic histories of species remains a key endeavor for comprehending the evolutionary processes contributing to the rich biodiversity and high endemism found in East *** this study,we explored the phylogeographic patterns and demographic histories of three endemic fishfly and dobsonfly species(Neochauliodes formosanus,Protohermes costalis,and Neoneuromus orientalis)belonging to the holometabolan order *** species,which share a broad and largely overlapping distribution,were analyzed using comprehensive mitogenomic *** findings revealed a consistent influence of vicariance on the population isolation of *** and *** between Hainan,Taiwan,and the East Asian mainland during the early Pleistocene,potentially hindering subsequent colonization of the later diverged *** to these ***,we unveiled the dual function of the major mountain ranges in East Asia,serving both as barriers and conduits,in shaping the population structure of all three ***,we demonstrated that these co-distributed species originated from Southwest,Southern,and eastern Central China,respectively,then subsequently migrated along multi-directional routes,leading to their sympatric distribution on the East Asian ***,our results highlighted the significance of Pleistocene land bridges along the eastern coast of East Asia in facilitating the dispersal of mountain-dwelling insects with low dispersal ***,this study provides novel insight into the synergistic impact of Pleistocene geological and climatic events in shaping the diversity and distribution of aquatic insects in East Asia.

关键词： Comparative phylogeography Island biogeography Pleistocene glaciation Corydalidae East Asia