检索结果-南通市图书馆

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

在线全文

学校读者我要写书评

暂无评论

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 electrooculogram.The 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 photoreceptor.In this study,the complete clinical characteristics of two Chinese ARB families were summarized.Methods: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 members.Results:Two novel mutations,c.202T>C(chr11:61722628,p.Y68H)and c.867+97G>A,in the BEST1 gene were identified in the two Chinese ARB families.The novel missense mutation BEST1 c.202T>C(p.Y68H)resulted in the substitution of tyrosine with histidine in the N-terminal region of transmembrane domain 2 of bestrophin-1.Another novel variant,BEST1 c.867+97G>A(chr11:61725867),located in intron 7,might be considered a regulatory variant that changes allele-specific binding affinity based on motifs of important transcriptional regulators.Conclusion: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 genes.The 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

Advances of biomarkers in nasopharyngeal carcinoma’s early detection

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 Bulletin 2024年第2期69卷 141-145页

作者： Xiao-hui Zheng Allan Hildesheim Wei-Hua jia State Key Laboratory of Oncology in South China Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and TherapyGuangdong Provincial Clinical Research Center for CancerSun Yat-sen University Cancer CenterGuangzhou 510060China Costa Rican Agency for Biomedical Investigation INCIENSA FoundationSan Jose 10108Costa Rica

Nasopharyngeal carcinoma(NPC),a highly invasive and metastatic cancer,is widely prevalent in South China,Southeast Asia,and North Africa.NPC patients with stages I and II are often asymptomatic.Therefore,NPC patients are usually diagnosed with advanced-stage(stages III and IV)at their first visit.Detection of NPC at early stage is the key to improve the survival of patients.Epstein-Barr virus(EBV)plays an essential role in NPC occurrence in endemic areas.EBV-based biomarkers,including EBV antibody in serum and EBV DNA in plasma,have been specifically proposed for NPC early detection.Herein,we summarize recent advances in biomarkers for the early detection of NPC.

关键词： patients nasopharyngeal Nasopharyngeal

Role of phosphorus on the biogeochemical behavior of cadmium in the contaminated soil under leaching and pot experiments

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Journal of Environmental Sciences 2024年第3期137卷 488-499页

作者： hui jia YifanWu Mengqi Zhang Jinhui Ye Daolin Du He Wang Institute of Environment and Ecology School of Emergency ManagementJiangsu UniversityZhenjiang 212013China School of the Environment and Safety Engineering&Institute of Environment and Ecology Jiangsu UniversityZhenjiang 212013China jiangsu Collaborative Innovation Center of Technology and Material of Water Treatment Suzhou University of Science and TechnologySuzhou 215009China Xuzhou Medical University Affiliated HospitalXuzhou 221004China

Phosphorus(P)is involved in various biochemical reactions in plant growth,so it is beneficial to plants growing in soils contaminated by metals,including cadmium(Cd).However,few studies have reported on the mechanistic roles of P in mitigating Cd toxicity to ryegrass root,and especially in alleviating the disruption of the mitochondrial function of living cells.In this study,the physiological and biochemical mechanisms associated with ryegrass growth under various Cd and P treatments were investigated using leaching and pot systems.The concentration of Cd in soil leachates showed a significantly positive relationship with redox potential(P<0.05),but negative relationship(P<0.05)with leachate pH values and dissolved organic carbon(DOC),indicating that exogenous P addition(as H_(2)PO_(4)*)may decrease Cd leaching from contaminated soil.Compared to the control(without P addition),the cumulative Cd content was reduced by 53.3%and 64.5%in the soil leachate with exogenous P application(20 mg/L and 80 mg/L),respectively.Notably,application of P decreased the Cd concentrations in the symplastic fractions and increased the Cd concentrations in the apoplastic fractions in root tips,which may help to alleviate Cd stress to the protoplast.Moreover,exogenous P was found to play a positive role in mitochondrial function and Ca^(2+)variation in root cells under Cd stress,which provides novel insights into the mechanisms of exogenous P in alleviating plant Cd injury.

关键词： Phosphorus Cadmium stress Protoplast Biogeochemical behavior Mitochondrial function

Optimal V_(2)O_(3) extraction by sustainable vanadate electrolysis in molten salts

在线全文

学校读者我要写书评

暂无评论

Tungsten 2024年第1期6卷 141-149页

作者： bao-Yan Feng Zhong-Hua Zhao Yong-Zheng jia jia-Liang An Ming-Yong Wang State Key Laboratory of Advanced Metallurgy University of Science and Technology BeijingBeijing 100083China Beijing Key Laboratory of Green Recovery and Extraction of Rare and Precious Metals University of Science and Technology BeijingBeijing 100083China

Recently,an environmentally friendly electrolysis process of soluble vanadates is proposed and successfully confirmed for V_(2)O_(3) extraction.In this paper,the solubilities of various vanadates(i.e.NaVO_(3),Na_(4)V_(2)O_(7) and Na_(3)VO_(4))in NaCl molten salt are measured.The dependences of V_(2)O_(3) extraction on vanadate form,anode material and molten salt system are studied.A long-term electrolysis is carried out.The result indicates that the solubilities of all vanadates are high and meet electrolytic requirements.Compared to Na_(4)V_(2)O_(7) and Na_(3)VO_(4),NaVO_(3) exhibits larger current efficiency and lower electricity consumption.By using SnO_(2) anode instead of graphite anode,the current efficiency of NaVO_(3) electrolysis can be increased to 58.1%and carbon pollution is avoided at 700℃.The extraction rate of V_(2)O_(3) reaches 81.3%after long-term electrolysis of 51 h.This work optimizes the electrochemical preparation process of V_(2)O_(3) from various vanadates and contributes to the improvement of current efficiency and extraction rate.

关键词： Molten salt electrolysis Vanadate Vanadium trioxide Current efficiency

The key mediator of diabetic kidney disease:Potassium channel dysfunction

在线全文

学校读者我要写书评

暂无评论

Genes & Diseases 2024年第4期11卷 188-200页

作者： jia Guo Chaojie Zhang hui Zhao Yufan Yan Zhangsuo Liu Nephrology Research Center The First Affiliated Hospital of Zhengzhou UniversityZhengzhouHenan 450052China Key Laboratory of Precision Diagnosis and Treatment for Chronic Kidney Disease in Henan Province ZhengzhouHenan 450052China Research Center for Kidney Disease ZhengzhouHenan 450052China

Diabetic kidney disease is a leading cause of end-stage renal disease,making it a global public health concern.The molecular mechanisms underlying diabetic kidney disease have not been elucidated due to its complex pathogenesis.Thus,exploring these mechanisms from new perspectives is the current focus of research concerning diabetic kidney disease.lon channels are important proteins that maintain the physiological functions of cells and organs.Among ion channels,potassium channels stand out,because they are the most common and important channels on eukaryotic cell surfaces and function as the basis for cell excitability.Certain potassium channel abnormalities have been found to be closely related to diabetic kid-ney disease progression and genetic susceptibility,such as KATp,Kca,Kir,and Kv.In this review,we summarized the roles of different types of potassium channels in the occurrence and devel-opment of diabetic kidney disease to discuss whether the development of DKD is due to potas-sium channel dysfunction and present new ideas for the treatment of DKD.

关键词： Channel dysfunction Diabetic kidney disease End-stage renal disease lon channel Potassium

Dynamic foraging strategy adaptation to heterogeneous environments contributes to social aggregation in snub-nosed monkeys

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Zoological Research 2024年第1期45卷 39-54页

作者： Lan Zhao Sheng-Nan Ji Xiao-Bing Du jia-hui Liu Bo-Lun Zhang Pei-Hua Li Yi-Jun Yang bao-Guo Li Yan-Qing Guo Xiao-Guang Qi College of Life Sciences Northwest UniversityXi’anShaanxi 710069China Chengdu Institute of Biology Chinese Academy of SciencesChengduSichuan 610041China State Key Laboratory of Environmental Criteria and Risk Assessment Chinese Research Academy of Environmental SciencesBeijing 100012China

The dynamics of animal social structures are heavily influenced by environmental patterns of competition and cooperation.In folivorous colobine primates,prevailing theories suggest that larger group sizes should be favored in rainforests with a year-round abundance of food,thereby reducing feeding competition.Yet,paradoxically,larger groups are frequently found in high-altitude or high-latitude montane ecosystems characterized by a seasonal scarcity of leaves.This contradiction is posited to arise from cooperative benefits in heterogeneous environments.To investigate this hypothesis,we carried out a six-year field study on two neighboring groups of golden snub-nosed monkey(Rhinopithecus roxellana),a species representing the northernmost distribution of colobine primates.Results showed that the groups adjusted their movement and habitat selection in response to fluctuating climates and spatiotemporal variability of resources,indicative of a dynamic foraging strategy.Notably,during the cold,resource-scarce conditions in winter,the large group occupied food-rich habitats but did not exhibit significantly longer daily travel distances than the smaller neighboring group.Subsequently,we compiled an eco-behavioral dataset of 52 colobine species to explore their evolutionary trajectories.Analysis of this dataset suggested that the increase in group size may have evolved via home range expansion in response to the cold and heterogeneous climates found at higher altitudes or latitudes.Hence,we developed a multi-benefits framework to interpret the formation of larger groups by integrating environmental heterogeneity.In cold and diverse environments,even smaller groups require larger home ranges to meet their dynamic survival needs.The spatiotemporal distribution of high-quality resources within these expanded home ranges facilitates more frequent interactions between groups,thereby encouraging social aggregation into larger groups.This process enhances the benefits of collaborative actions and reproductive opportunities,whi

关键词： Social evolution Folivore paradox MLS Rhinopithecus roxellana Multi-benefits framework

Efficacy of exercise rehabilitation for managing patients with Alzheimer's disease

在线全文

学校读者我要写书评

暂无评论

Neural Regeneration Research 2024年第10期19卷 2175-2188页

作者： Dan Li Jinning jia Haibo Zeng Xiaoyan Zhong hui Chen Chenju Yi Department of Pathology The First Affiliated Hospital of Gannan Medical UniversityGanzhouJiangxi ProvinceChina Department of Pathology Huichang County People’s HospitalGanzhouJiangxi ProvinceChina School of Life Sciences Faculty of ScienceUniversity of Technology SydneyUltimoNSWAustralia Research Center The Seventh Affiliated Hospital of Sun Yat-sen UniversityShenzhenGuangdong ProvinceChina Shenzhen Key Laboratory of Chinese Medicine Active Substance Screening and Translational Research ShenzhenGuangdong ProvinceChina Guangdong Provincial Key Laboratory of Brain Function and Disease GuangzhouGuangdong ProvinceChina

Alzheimer's disease(AD) is a progressive and degenerative neurological disease characterized by the deterioration of cognitive functions. While a definitive cure and optimal medication to impede disease progression are currently unavailable, a plethora of studies have highlighted the potential advantages of exercise rehabilitation for managing this condition. Those studies show that exercise rehabilitation can enhance cognitive function and improve the quality of life for individuals affected by AD. Therefore, exercise rehabilitation has been regarded as one of the most important strategies for managing patients with AD. Herein, we provide a comprehensive analysis of the currently available findings on exercise rehabilitation in patients with AD, with a focus on the exercise types which have shown efficacy when implemented alone or combined with other treatment methods, as well as the potential mechanisms underlying these positive effects. Specifically, we explain how exercise may improve the brain microenvironment and neuronal plasticity. In conclusion, exercise is a cost-effective intervention to enhance cognitive performance and improve quality of life in patients with mild to moderate cognitive dysfunction. Therefore, it can potentially become both a physical activity and a tailored intervention. This review may aid the development of more effective and individualized treatment strategies to address the challenges imposed by this debilitating disease, especially in low-and middle-income countries.

关键词： Alzheimer's disease cerebrovascular function cognitive function epigenetic regulation exercise hippocampal neurogenesis mitochondria neuroinflammation neuronal plasticity

Assembly of peptide nanostructures with controllable sizes

在线全文

学校读者我要写书评

暂无评论

Nano Research 2024年第1期17卷 151-161页

作者： Dan Cheng Fan jia Yun-bao jiang Vincent P.Conticello Tao jiang The MOE Key Laboratory of Spectrochemical Analysis and Instrumentation Department of ChemistryCollege of Chemistry and Chemical EngineeringXiamen UniversityXiamen 361005China Innovation Laboratory for Sciences and Technologies of Energy Materials of Fujian Province(IKKEM) Xiamen 361005China Department of Chemistry Emory UniversityAtlanta 30033USA

Controlled peptide assembly offers significant promise to develop synthetic supramolecular nanostructures to display material and biological properties that mimic protein assemblies in nature.Despite the progress in forming peptide nanostructures of various morphology,there exists a distinct gap between natural and synthetic assembly systems in terms of size control.Constructing nanostructures with a narrow size distribution that can be tuned over a wide range of length-scales is essential for applications that require precise spacing between objects.This approach provides the opportunity to correlate materials and biological properties of interest with assembly size.In this review,we discuss representative endeavors over the past two decades for design of size-controllable peptide nanostructures using tunable building blocks.Other mechanisms for size control,e.g.,molecular frustration,template-directed peptide assembly,and multi-component peptide co-assembly,will also be discussed.We also demonstrate the applicable scopes of these strategies and suggest potential future avenues for scientific advances in this field.

关键词： peptide assembly controllable size template multi-component

Remediation of di(2-ethylhexyl)phthalate(DEHP)contaminated black soil by freeze-thaw aging biochar

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Journal of Environmental Sciences 2024年第1期135卷 681-692页

作者： Lei Wang Zeyu Dou Chaoran Ma Xiaochen jia Hongye Wang Wenjing bao Lei Wang jianhua Qu Ying Zhang School of Resources and Environment Northeast Agricultural UniversityHarbin 150030China

Di(2-ethylhexyl)phthalate(DEHP),a complex structure with high toxicity,is a common organic pollutant.This study investigated the effects of fresh biochar(FBC),and freeze-thaw cycled aged biochar(FTC-BC)on DEHP-contaminated soils using a pot experiment.The specific surface area of FBC increased from 145.20 to 303.50 m~2/g,and oxygen-containing functional groups increased from 1.26 to 1.48 mol/g after freeze-thaw cycles,greatly enhancing the adsorption of DEHP by biochar in the soil.The comprehensive radar chart evaluation showed that FBC and FTC-BC reduced DEHP growth stress and improved the soil properties.Compared with FBC,FTC-BC performed better in protecting the normal growth of pakchoi and improving soil properties.In addition,the application of biochar increased the diversity and abundance of bacteria in the DEHP-contaminated soil and changed the composition of the soil bacterial community.The partial least squares path model(PLS-PM)showed that adding biochar as a soil remediation agent significantly positively impacted soil nutrients and indirectly reduced the DEHP levels in soil and plants by increasing soil microbial diversity.Compared with FBC,FTC-BC creates a more satisfactory living environment for microorganisms and has a better effect on the degradation of DEHP in the soil.This study provides a theoretical basis for future biochar remediation of DEHP-contaminated soils in cold high-latitude regions.

关键词： DEHP Freeze-thaw cycles Biochar Soil restoration