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Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing

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Current Medical Science 2024年第2期44卷 419-425页

作者： Jia-xun LI Ling-rui MENG Bao-ke HOU Xiao-lu HAO Da-jiang WANG Ling-hui qu Zhao-hui LI Lei ZHANG Xin JIN Department of Senior Ophthalmology the Third Medical Center of PLA General HospitalBeijing 100853China Department of Ophthalmology the 74th Army Group HospitalGuangzhou 510318China

Objective:Autosomal recessive bestrophinopathy(ARB),a retinal degenerative disease,is characterized by central visual loss,yellowish multifocal diffuse subretinal deposits,and a dramatic decrease in the light peak on *** potential pathogenic mechanism involves mutations in the BEST1 gene,which encodes Ca2.-activated Cl−channels in the retinal pigment epithelium(RPE),resulting in degeneration of RPE and *** this study,the complete clinical characteristics of two Chinese ARB families were ***:Pacific Biosciences(PacBio)single-molecule real-time(SMRT)sequencing was performed on the probands to screen for disease-causing gene mutations,and Sanger sequencing was applied to validate variants in the patients and their family ***:Two novel mutations,c.2.2.>C(chr11:6172.62.,p.Y68H)and c.867+97G>A,in the BEST1 gene were identified in the two Chinese ARB *** novel missense mutation BEST1 c.2.2.>C(p.Y68H)resulted in the substitution of tyrosine with histidine in the N-terminal region of transmembrane domain 2.of *** novel variant,BEST1 c.867+97G>A(chr11:6172.867),located in intron 7,might be considered a regulatory variant that changes allele-specific binding affinity based on motifs of important transcriptional ***:Our findings represent the first use of third-generation sequencing(TGS)to identify novel BEST1 mutations in patients with ARB,indicating that TGS can be a more accurate and efficient tool for identifying mutations in specific *** novel variants identified further broaden the mutation spectrum of BEST1 in the Chinese population.

关键词： autosomal recessive bestrophinopathy BEST1 gene third-generation sequencing mutation

Visible Light-Induced Collapse of Molecular Microcrystals into Droplets by E-to-Z Photoisomerization and Melting Phase Transition

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CCS Chemistry 2024年第4期6卷 1071-1084页

作者： Tian-Yi Xu Min Cui Chengxi Zhao Shang-Wu Zhou Tian-Le Zhang hui-Yao Lin Fei Tong Da-hui qu Key Laboratory for Advanced Materials and Feringa Nobel Prize Scientist Joint Research Center School of Chemistry and Molecular EngineeringEast China University of Science and TechnologyShanghai 200237

Harnessing photoresponsive behavior in organic crystals,such as shape and morphology deformation,on multiple scales is intriguing with respect to precise spatiotemporal operation,because dynamic deformations are promising in fabricating future intelligent ***,we synthesized a new photoresponsive molecular crystal composed of dimethyl(E)-2.(3-(naphthalen-1-yl)allylidene)malonate((E)-DNAM)that undergoes E-to-Z photoisomerization accompanied by photoinduced crystal-to-liquid melting phase transition when exposed to visible *** of expanding in bulk polycrystals,single-crystal(E)-DNAM rectangular microplates in an aqueous solution rapidly collapsed into liquid droplets,showing a remarkable drastic reduction in surface area of more than 97%after light *** deduce that the unique microscopic morphology of microplates with high aspect ratios of length-tothickness reaching up to 1000 is mainly responsible for the photoinduced melting leading to drastic *** addition,the cohesive forces of liquid photoproduct facilitate the overall deformations and *** have shown a facile way to achieve the remarkable collapse of molecular crystals into droplets by photochemical reaction and phase transition.

关键词： molecular crystals crystal-to-liquid transition extreme deformations photochemistry crystal engineering flexible crystals

Tirofiban combined with Aspirin in the Treatment of Acute Penetrating Artery Territory Infarction (STRATEGY): protocol for a multicentre, randomised controlled trial

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Stroke & Vascular Neurology 2024年第1期9卷 75-81,I0047-I0052页

作者： Xiaoling Liao Shuo Feng Yicong Wang Yuesong Pan Weiqi Chen hui qu Xingquan Zhao Liping Liu Yongjun Wang Yilong Wang Department of Neurology Beijing Tiantan HospitalCapital Medical UniversityBeijingChina China National Clinical Research Center for Neurological Diseases Beijing TiantanHospitalCapital Medical UniversityBeijingChina Chinese Institute for Brain Research BeijingChina National Center for Neurological Diseases BeijingChina Advanced Innovation Center for Human Brain Protection Capital Medical UniversityBeijingChina Beijing Laboratory of Oral Health Capital Medical UniversityBeijingChina

Background Perforating artery territorial infarction(PAI)caused by branch atheromatous disease(BAD)is prone to recurrence and early progression without an effective and well-documented antiplatelet treatment ***,an adjunctive antiplatelet agent,has shown great potential to treat acute ischaemic ***,whether the combination of tirofiban and aspirin can improve the prognosis of PAI remains *** To explore an effective and safe antiplatelet regimen for reducing the risk of recurrence and early neurological deterioration(END)in PAI caused by BAD by comparing the tirofiban and aspirin combination with placebo and aspirin *** Tirofiban combined with Aspirin in the Treatment of Acute Penetrating Artery Territory Infarction(STRATEGY)trial is an ongoing multicentre,randomised,placebo-controlled trial in *** patients shall be randomly assigned to receive standard aspirin with tirofiban or placebo on the first day and standard aspirin from days 2.to *** primary endpoint is a new stroke or END within 90 *** primary safety endpoint is severe or moderate bleeding within 90 *** The STRATEGY trial will assess whether tirofiban combined with aspirin is effective and safe in preventing recurrence and END in patients with *** registration number NCT05310968.

关键词： Aspirin regimen centre

Enhancing the deep-red/near-infrared fluorescence of higher rylene diimides via the chalcogen-annulation strategy

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Science China Chemistry 2024年第4期67卷 1324-1333页

作者： Kai Chen Xiao Chen Ke Hu Yilun Zhao Yujian Liu Guogang Liu Jinquan Chen Wei Jiang Zhigang Shuai Da-hui qu Zhaohui Wang Key Laboratory for Advanced Materials and Joint International Research Laboratory of Precision Chemistry and Molecular Engineering Feringa Nobel Prize Scientist Joint Research CenterFrontiers Science Center for Materiobiology and Dynamic ChemistryInstitute of Fine ChemicalsSchool of Chemistry and Molecular EngineeringEast China University of Science and TechnologyShanghai 200237China Key Laboratory of Organic Optoelectronics and Molecular Engineering Department of ChemistryTsinghua UniversityBeijing 100084China State Key Laboratory of Precision Spectroscopy East China Normal University500 Dongchuan RoadShanghai 200241China

Deep-red/near-infrared fluorescence is highly suitable for bioimaging owing to its ability to deeply penetrate tissues,organs,and live ***,developing organic fluorophores with high deep-red/near-infrared fluorescence quantum yield(Φ_(FL))and fluorescent brightness remain a significant challenge owing to the energy gap ***,we developed a straightforward and effective chalcogen-annulation strategy by introducing O,S and Se into the bay region of TDI and QDI fluorophores,realizing the increase ofΦFLand fluorescent brightness up to 10 *** our best knowledge,this study potentially stands as the pioneering instance showcasing the anti-heavy-atom effect of chalcogens,and the absoluteΦFL(93%)and fluorescent brightness(12.,2.0 cm^(-1)mol^(-1)L)of Se-TDI is among top deep-red/near-infrared organic fluorophores currently *** femtosecond transient absorption(fs-TA)measurements show the absence of obvious changes of the excited state lifetime after the introduction of chalcogens in TDI and QDI fluorophores,indicating that intersystem crossing(ISC)can be neglected in TDI and QDI *** calculations further reveal the chalcogen-annulation strategy increase the radiative rates and reduce the reorganization energy of several accepting modes at the ground state in TDI fluorophores,leading to the suppression of internal conversion(IC)*** chalcogen-annulation strategy,which effectively increases the Φ_(FL)and restricts the IC processes,while remaining unaffected by the heavy-atom effect,offers novel insights and theoretical support for the design and synthesis of deep-red/near-infrared organic fluorophores with high Φ_(FL)and fluorescent brightness.

关键词： π-extended rylene diimides chalcogen-annulation strategy deep-red/near-infrared fluorescence

Effects of wind speed,underlying surface,and seed morphological traits on the secondary seed dispersal in the Tengger Desert,China

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Journal of Arid Land 2024年第4期16卷 531-549页

作者： qu Wenjie ZHAO Wenzhi YANG Xinguo WANG Lei ZHANG Xue qu Jianjun Northwest Institute of Eco-Environment and Resources Chinese Academy of SciencesLanzhou 730000China Key Laboratory of Restoration and Reconstruction of Degraded Ecosystems in Northwestern China of Ministry of Education Ningxia UniversityYinchuan 750021China University of Chinese Academy of Sciences Beijing 100049China School of Ecology and Environment Ningxia UniversityYinchuan 750021China

The maintenance of sand-fixing vegetation is important for the stability of artificial sand-fixing systems in which seed dispersal plays a key *** on field wind tunnel experiments using 11 common plant species on the southeastern edge of the Tengger Desert,China,we studied the secondary seed dispersal in the fixed and semi-fixed sand dunes as well as in the mobile dunes in order to understand the limitations of vegetation regeneration and the maintenance of its *** results indicated that there were significant variations among the selected 11 plant species in the threshold of wind speed(TWS).The TWS of Caragana korshinskii was the highest among the 11 plant species,whereas that of Echinops gmelinii was the *** morphological traits and underlying surface could generally explain the *** the secondary seed dispersal processes,the proportions of seeds that did not disperse(no dispersal)and only dispersed over short distance(short-distance dispersal within the wind tunnel test section)were significantly higher than those of seeds that were buried(including lost seeds)and dispersed over long distance(long-distance dispersal beyond the wind tunnel test section).Compared with other habitats,the mobile dunes were the most difficult places for secondary seed *** seeds were the easiest to be found in the semi-fixed sand dunes,whereas fixed sand dunes were the best sites for seeds that dispersed over long *** results of linear mixed models showed that after controlling the dispersal distance,smaller and rounder seeds dispersed *** index and wind speed were the two significant influencing factors on the burial of *** explanatory power of wind speed,underlying surface,and seed morphological traits on the seeds that did not disperse and dispersed over short distance was far greater than that on the seeds that were buried and dispersed over long distance,implying that the processes and mechanisms of burial and lo

关键词： seed dispersal seed morphological traits wind speed vegetation regeneration wind tunnel Tengger Desert

Unraveling brain aging through the lens of oral microbiota

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Neural Regeneration Research 2025年第7期20卷 1930-1943页

作者： Qinchao Hu Si Wang Weiqi Zhang Jing qu Guang-hui Liu State Key Laboratory of Membrane Biology Institute of ZoologyChinese Academy of SciencesBeijingChina Hospital of Stomatology Guanghua School of StomatologyGuangdong Provincial Key Laboratory of StomatologySun Yat-sen UniversityGuangzhouGuangdong ProvinceChina Advanced Innovation Center for Human Brain Protection and National Clinical Research Center for Geriatric Disorders Xuanwu HospitalCapital Medical UniversityBeijingChina Aging Translational Medicine Center International Center for Aging and CancerBeijing Municipal Geriatric Medical Research CenterXuanwu HospitalCapital Medical UniversityBeijingChina CAS Key Laboratory of Genomic and Precision Medicine Beijing Institute of GenomicsChinese Academy of Sciences and China National Center for BioinformationBeijingChina University of Chinese Academy of Sciences BeijingChina Institute for Stem Cell and Regeneration Chinese Academy of SciencesBeijingChina Aging Biomarker Consortium BeijingChina State Key Laboratory of Stem Cell and Reproductive Biology Institute of ZoologyChinese Academy of SciencesBeijingChina Beijing Institute for Stem Cell and Regenerative Medicine BeijingChina

The oral cavity is a complex physiological community encompassing a wide range of *** of oral microbiota can lead to various oral infectious diseases,such as periodontitis and tooth decay,and even affect systemic health,including brain aging and neurodegenerative *** studies have highlighted how oral microbes might be involved in brain aging and neurodegeneration,indicating potential avenues for intervention *** this review,we summarize clinical evidence demonstrating a link between oral microbes/oral infectious diseases and brain aging/neurodegenerative diseases,and dissect potential mechanisms by which oral microbes contribute to brain aging and *** also highlight advances in therapeutic development grounded in the realm of oral microbes,with the goal of advancing brain health and promoting healthy aging.

关键词： Alzheimer's disease brain aging multiple sclerosis neurodegeneration neurodegenerative diseases oral microbiota Parkinson's disease periodontitis bacteria Porphyromonas gingivalis

Neutrophil extracellular traps induced by interleukin 8 via CXCR1/2.promote the progression of gastric carcinoma through transcription factor IIB-related factor 1 and cyclin

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Genes & Diseases 2024年第2期11卷 575-578页

作者： Qianling Wang Yiyin Zhang Wenxi Ding Cheng Feng Yuyan Wang Xiaoli Wei Ziting qu hui Wang Xiaoying Liu Hua Wang Kangsheng Gu Department of Oncology The First Affiliated Hospital of Anhui Medical UniversityHefeiAnhui 230022China School of Life Sciences Anhui Medical UniversityHefeiAnhui 230032China

Neutrophils constitute a significant portion of the immune cells present within the tumor *** generated by our group has confirmed neutrophils to be an adverse independent prognostic factor affecting the disease-free survival of gastric carcinoma(GC)patients.1 Neutrophil extracellular traps(NETs),protein-covered DNA webs that interact with tumor cells in the tumor microenvironment,were detected in GC tissues and found to clinically associated with disease progression in our previous study.2.NETosis could be mediated by a series of agonists,such as interleukin 8(IL-8).3 However,the mechanism of IL-8 in the progression of GC occurs via NETs remains *** this study,we identified that IL-8-mediated NETosis can promote the proliferation,migration,and invasion of GC cells in vitro,which can be abrogated by NET degradation through deoxyribonucleaseI(DNase I)or IL-8 suppression through neutralizing *** of NETs by DNase I or blockade of the IL-8-CXC chemokine receptor 2.CXCR2.axis could result in growth retardation in mouse *** also confirmed that NETs may influence the biological behavior of GC cells by up-regulating the expression of transcription factor IB-related factor 1(BRF1)and cyclin p2./p2..

关键词： invasion gastric progression

A Blood Hepatocellular Carcinoma Signature Recognizes Very Small Tumor Nodules with Metastatic Traits

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Journal of Clinical and Translational Hepatology 2024年第6期12卷 551-561页

作者： Kun Chen Junxiao Wang Liping Jiang Fei Zhao Ruochan Zhang Zhiyuan Wu Dongmei Wang Yuchen Jiao hui Xie Chunfeng qu State Key Lab of Molecular Oncology Department of ImmunologyNational Cancer Center/National Clinical Research Center for Cancer/Cancer HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina Senior Department of Oncology Fifth Medical Center of Chinese PLA General HospitalBeijingChina Aerospace Medical Center/Aerospace Center Hospital Peking University Aerospace Clinical CollegeBeijingChina State Key Lab of Molecular Oncology National Cancer Center/National Clinical Research Center for Cancer/Cancer HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina

Background and Aims:Hepatocellular carcinoma(HCC)cases with small nodules are commonly treated with radi-ofrequency ablation(RFA),but the recurrence rate remains *** study aimed to establish a blood signature for identifying HCC with metastatic traits ***:Data from HCC patients treated between 2.10 and 2.17 were retrospectively collected.A blood signature for meta-static HCC was established based on blood levels of alpha-fetoprotein and des-γ-carboxy-prothrombin,cell-free DNA(cfDNA)mutations,and methylation changes in target genes in frozen-stored plasma samples that were collected before RFA *** HCC blood signature was validated in patients prospectively enrolled ***:Of 2.1 HCC patients in the retrospective study,33.9% experienced recurrence within 1 year *** HCC blood signature identified from these patients included des-γ-carboxy-prothrombin≥40mAU/mL with cfDNA mutation score,where cfDNA mutations occurred in the genes of TP53,CTNNB1,and TERT *** signature effectively predicted 1-year post-RFArecurrence of HCC with 92. specificity and 91% sensitivity in the retrospective dataset,and with 87% specificity and 76% sensitivity in the prospective dataset(n=32.patients).Among 14 cases in the prospective study with biopsy tissues available,positivity for the HCC blood signature was associated with a higher HCC tissue score and shorter distance between HCC cells and ***:This study established an HCC blood signature in pre-RFA blood that potentially reflects HCC with metastatic traits and may be valuable for predicting the disease’s early recurrence post-RFA.

关键词： Liquid biopsy Liver dysplastic nodules Radiofrequency ablation Hepatocellular carcinoma Recurrence prediction Metastatic nodules

Multimodal Omics Approaches to Aging and Age‑Related Diseases

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Phenomics 2024年第1期4卷 56-71页

作者： Qianzhao Ji Xiaoyu Jiang Minxian Wang Zijuan Xin Weiqi Zhang Jing qu Guang‑hui Liu State Key Laboratory of Membrane Biology Instituteof ZoologyChinese Academy of SciencesBeijing 100101China State Key Laboratory of Stem Cell and ReproductiveBiology Institute of ZoologyChinese Academy of SciencesBeijing 100101China Key Laboratory of Organ Regeneration and Reconstruction Institute of ZoologyChinese Academy of SciencesBeijing 100101China CAS Key Laboratory of Genomic and Precision Medicine Beijing Institute of GenomicsChinese Academyof Sciences and China National Center for BioinformationBeijing 100101China University of Chinese Academy of Sciences Beijing 100049China Institute for Stem Cell and Regeneration Chinese Academyof SciencesBeijing 100101China Beijing Institute for Stem Cell and Regenerative Medicine Beijing 100101China School of Future Technology University of ChineseAcademy of SciencesBeijing 100190China Advanced Innovation Center for Human Brain Protection National Clinical Research Center for GeriatricDisordersXuanwu Hospital Capital Medical UniversityBeijing 100053China Aging Translational Medicine Center International Centerfor Aging and CancerXuanwu HospitalCapital MedicalUniversityBeijing 100053China

Aging is associated with a progressive decline in physiological capacities and an increased risk of aging-associated *** increasing body of experimental evidence shows that aging is a complex biological process coordinately regulated by multiple factors at diferent molecular ***,it is difcult to delineate the overall systematic aging changes based on single-layer ***,multimodal omics approaches,in which data are acquired and analyzed using complementary omics technologies,such as genomics,transcriptomics,and epigenomics,are needed for gaining insights into the precise molecular regulatory mechanisms that trigger *** recent years,multimodal omics sequencing technologies that can reveal complex regulatory networks and specifc phenotypic changes have been developed and widely applied to decode aging and age-related *** review summarizes the classifcation and progress of multimodal omics approaches,as well as the rapidly growing number of articles reporting on their application in the feld of aging research,and outlines new developments in the clinical treatment of age-related diseases based on omics technologies.

关键词： Multimodal omics approaches Aging Genome Epigenome