检索结果-南通市图书馆

A mutation in TBXT causes congenital vertebral malformations in humans and mice

Journal of Genetics and Genomics 2024年第4期51卷 433-442页

作者： Shuxia Chen Yunping Lei Yajun Yang Chennan Liu Lele Kuang Li Jin Richard HFinnell Xueyan Yang Hongyan Wang Obstetrics and Gynecology Hospital State Key Laboratory of Genetic Engineering at School of Life SciencesKey Laboratory of Reproduction Regulation of NPFPCInstitute of Reproduction and DevelopmentFudan UniversityShanghai 200438China Shanghai Key laboratory of Metabolic Remodeling and Health Institute of Metabolism and Integrative BiologyFudan UniversityShanghai 200438China Center for Precision Environmental Health Department of Molecular and Cellular BiologyBaylor College of MedicineHoustonTX 77030USA MOE Key laboratory of Contemporary Anthropology School of Life SciencesFudan UniversityShanghai 200438China Department of assisted reproduction Xinhua HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghai 200092China Children’s Hospital Fudan University399 Wanyuan RoadShanghai 201102China

T-box transcription factor T(TBXT;T)is required for mesodermal formation and axial skeletal *** it has been extensively studied in various model organisms,human congenital vertebral malformations(CVMs)involving T are not well ***,we report a family with 15 CVM patients distributed across 4 *** affected individuals carry a heterozygous mutation,T c.596A>G(p.Q199R),which is not found in unaffected family members,indicating co-segregation of the genotype and *** vitro assays show that T p.Q199R increases the nucleocytoplasmic ratio and enhances its DNA-binding affinity,but reduces its transcriptional activity compared to the *** determine the pathogenicity of this mutation in vivo,we generated a Q199R knock-in mouse model that recapitulates the human CVM *** heterozygous Q199R mice show subtle kinked or shortened tails,while homozygous mice exhibit tail filaments and severe vertebral ***,we show that the Q199R mutation in T causes CVM in humans and mice,providing previously unreported evidence supporting the function of T in the genetic etiology of human CVM.

关键词： Congenital vertebral malformation TBXT T gene Loss-of-function mutation

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

GametesOmics:A Comprehensive Multi-omics Database for Exploring the Gametogenesis in Humans and Mice

引用

Genomics, Proteomics & Bioinformatics 2024年第1期22卷 121-130页

作者： Jianting An Jing Wang Siming Kong Shi Song Wei Chen Peng Yuan Qilong He Yidong Chen Ye Li Yi Yang Wei Wang Rong Li Liying Yan Zhiqiang Yan Jie Qiao State Key laboratory of Female Fertility Promotion Center for Reproductive MedicineDepartment of Obstetrics and GynecologyPeking University Third HospitalBeijing 100191China National Clinical Research Center for Obstetrics and Gynecology Peking University Third HospitalBeijing 100191China Key laboratory of assisted reproduction Ministry of EducationPeking UniversityBeijing 100191China Beijing Key laboratory of Reproductive Endocrinology and assisted Reproductive Technology Beijing 100191China Peking-Tsinghua Center for Life Sciences Peking UniversityBeijing 100871China Beijing Advanced Innovation Center for Genomics Beijing 100191China

Gametogenesis plays an important role in the reproduction and evolution of *** transcriptomic and epigenetic alterations in this process can influence the reproductive capacity,fertilization,and embryonic *** rapidly increasing single-cell studies have provided valuable multi-omics ***,data from different layers and sequencing platforms have not been uniformed and integrated,which greatly limits their use for exploring the molecular mechanisms that underlie oogenesis and ***,we develop GametesOmics,a comprehensive database that integrates the data of gene expression,DNA methylation,and chromatin accessibility during oogenesis and spermatogenesis in humans and *** provides a user-friendly website and various tools,including Search and Advanced Search for querying the expression and epigenetic modification(s)of each gene;Tools with Differentially expressed gene(DEG)analysis for identifying DEGs,Correlation analysis for demonstrating the genetic and epigenetic changes,Visualization for displaying single-cell clusters and screening marker genes as well as master transcription factors(TFs),and MethylView for studying the genomic distribution of epigenetic *** also provides Genome Browser and Ortholog for tracking and comparing gene expression,DNA methylation,and chromatin accessibility between humans and *** offers a comprehensive resource for biologists and clinicians to decipher the cell fate transition in germ cell development,and can be accessed at http://***/.

关键词： Gametogenesis Oogenesis Spermatogenesis Transcriptomics Epigenomics

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Association between Exposure of Rare Earth Elements and Outcomes of In Vitro Fertilization-Embryo Transfer in Beijing

引用

Biomedical and Environmental Sciences 2024年第8期37卷 876-886页

作者： Yutong Wang Jing Li Shirong Xu Shengli Lin Zhenchen Hou Linlin Wang Yali Huang Yue Sun Wei Guo Lailai Yan Ying Wang Chan Tian State Key laboratory of Female Fertility Promotion Center for Reproductive MedicineDepartment of Obstetrics and Gynecology Peking University Third HospitalBeijing 100191China Department of Medical Genetics Peking UniversityBeijing 100191China National Clinical Research Center for Obstetrics and Gynecology Peking University Third HospitalBeijing 100191China Key laboratory of assisted reproduction(Peking University) Ministry of EducationBeijing 100191China Beijing Key laboratory of Reproductive Endocrinology and assisted Reproductive Technology Beijing 100191China Central laboratory of School of Public Health Peking UniversityBeijing 100191China School of Basic Medical Sciences Peking UniversityBeijing 100191China

Objective The study aimed to investigate the impact of rare earth elements(REEs)exposure on pregnancy outcomes of in vitro fertilization-embryo transfer(IVF-ET)by analyzing samples from *** A total of 141 couples were *** and follicular fluid from the wives and semen plasma from the husbands,were analyzed for REEs using inductively coupled plasma mass spectrometry(ICP-MS).Spearman's correlation coefficients and the Mann–Whitney U test were used to assess correlations and compare REE concentrations among three types of samples,*** models were utilized to estimate the individual REE effect on IVF-ET outcomes,while BKMR and WQS models explored the mixture of REE interaction effects on IVF-ET *** Higher La concentration in semen(median 0.089 ng/mL,P=0.03)was associated with a lower fertilization ***,this effect was not observed after artificial selection intervention through intracytoplasmic sperm injection(ICSI)(P=0.27).In semen,the REEs mixture did not exhibit any significant association with clinical *** Our study revealed a potential association between high La exposure in semen and a decline in fertilization rate,but not clinical pregnancy *** is the first to report REEs concentrations in follicular fluid with La,Ce,Pr,and Nd found at significantly lower concentrations than in serum,suggesting that these four REEs may not accumulate in the female reproductive ***,at the current exposure levels,mixed REEs exposure did not exhibit reproductive toxicity.

关键词： Rare earth elements In vitro fertilization Pregnancy outcomes Mixture exposure analysis

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Hepatic steatosis is associated with dysregulated cholesterol metabolism and altered protein acetylation dynamics in chickens

引用

Journal of Animal Science and Biotechnology 2024年第1期15卷 53-67页

作者： Xiaoli Guo Qianqian Zhou Jiaming Jin Fangren Lan Chaoliang Wen Junying Li Ning Yang Congjiao Sun National Engineering laboratory for Animal Breeding and Key laboratory of Animal Genetics Breeding and ReproductionMinistry of Agriculture and Rural AffairsChina Agricultural UniversityBeijing 100193China

Background Hepatic steatosis is a prevalent manifestation of fatty liver, that has detrimental effect on the health and productivity of laying hens, resulting in economic losses to the poultry industry. Here, we aimed to systematically investigate the genetic regulatory mechanisms of hepatic steatosis in laying *** Ninety individuals with the most prominent characteristics were selected from 686 laying hens according to the accumulation of lipid droplets in the liver, and were graded into three groups, including the control, mild hepatic steatosis and severe hepatic steatosis groups. A combination of transcriptome, proteome, acetylome and lipidome analyses, along with bioinformatics analysis were used to screen the key biological processes, modifications and lipids associated with hepatic *** The rationality of the hepatic steatosis grouping was verified through liver biochemical assays and RNA-seq. Hepatic steatosis was characterized by increased lipid deposition and multiple metabolic abnormalities. Integration of proteome and acetylome revealed that differentially expressed proteins(DEPs) interacted with differentially acetylated proteins(DAPs) and were involved in maintaining the metabolic balance in the liver. Acetylation alterations mainly occurred in the progression from mild to severe hepatic steatosis, i.e., the enzymes in the fatty acid oxidation and bile acid synthesis pathways were significantly less acetylated in severe hepatic steatosis group than that in mild group(P < 0.05). Lipidomics detected a variety of sphingolipids(SPs) and glycerophospholipids(GPs) were negatively correlated with hepatic steatosis(r ≤-0.5, P < 0.05). Furthermore, the severity of hepatic steatosis was associated with a decrease in cholesterol and bile acid synthesis and an increase in exogenous cholesterol *** In addition to acquiring a global and thorough picture of hepatic steatosis in laying hens, we were able to reveal the role of ac

关键词： Acetylation Cholesterol metabolism Hepatic steatosis Laying hens Multiomics

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Sex differences in human pre-gastrulation embryos

引用

Science China Life Sciences 2024年

作者： Yongjie Lu Meng Qin Xintong Qi Ming Yang Fan Zhai Jiaqi Zhang Zhiqiang Yan Liying Yan Jie Qiao Peng Yuan State Key laboratory of Female Fertility Promotion Center for Reproductive Medicine Department of Obstetrics and Gynecology Peking University Third Hospital National Clinical Research Center for Obstetrics and Gynecology (Peking University Third Hospital) Key laboratory of assisted reproduction (Peking University) Ministry of Education Beijing Key laboratory of Reproductive Endocrinology and assisted Reproductive Technology Academy for Advanced Interdisciplinary Studies Peking University

Human fetuses exhibit notable sex differences in growth rate and response to the intrauterine environment, yet their origins and underlying mechanisms remain uncertain. Here, we conduct a detailed investigation of sex differences in human pre-gastrulation embryos. The lower methylation and incomplete inactivation of the X chromosome in females, as well as the sex-specific cell-cell communication patterns,contribute to sex-differential transcription. Male trophectoderm is more inclined toward syncytiotrophoblast differentiation and exhibits a stronger hormone secretion capacity, while female trophectoderm tends to retain cytotrophoblast program with stronger mitochondrial function as well as higher vasculogenesis and immunotolerance signals. Male primitive endoderm initiates the anterior visceral endoderm transcriptional program earlier than females. The cell cycle activities of the epiblast and primitive endoderm are higher in males compared to females, while the situation is opposite in the trophectoderm. In conclusion, our study provides in-depth insights into the sex differences in human pre-gastrulation embryos and contributes to unraveling the origins of the sex differences in human fetal development.

关键词：

来源：

同方期刊数据库评论

在线全文

同方期刊数据库

学校读者我要写书评

暂无评论

Single‑cell sequencing reveals the reproductive variations between primiparous and multiparous Hu ewes

引用

Journal of Animal Science and Biotechnology 2024年第2期15卷 614-631页

作者： Ting Ge Yifan Wen Bo Li Xiaoyu Huang Shaohua Jiang Enping Zhang Key laboratory of Animal Genetics Breeding and Reproduction of Shaanxi ProvinceCollege of Animal Science and TechnologyNorthwest A&F UniversityYangling 712100China

Background In the modern sheep production systems,the reproductive performance of ewes determines the economic profitability of *** the genetic mechanisms underlying differences in the litter size is important for the selection and breeding of highly prolific *** sheep,a high-quality Chinese sheep breed,is known for its high fecundity and is often used as a model to study prolificacy *** the current study,animals were divided into two groups according to their delivery rates in three consecutive lambing seasons(namely,the high and low reproductive groups with≥3 lambs and one lamb per season,n=3,respectively).The ewes were slaughtered within 12 h of estrus,and unilateral ovarian tissues were collected and analyzed by 10×Genomics single-cell RNA *** A total of 5 types of somatic cells were identified and corresponding expression profiles were mapped in the ovaries of each ***,the differences in the ovary somatic cell expression profiles between the high and low reproductive groups were mainly clustered in the granulosa ***,four granulosa cell subtypes were *** analysis revealed that the abundance of JPH1 expression and the reduction of LOC101112291 expression could lead to different evolutionary directions of the granulosa ***,the expression levels of FTH1 and FTL in mural granulosa cells of the highly reproductive group were significantly *** genes inhibit necroptosis and ferroptosis of mural granulosa cells,which helps prevent follicular *** This study provides insights into the molecular mechanisms underlying the high fecundity of Hu *** differences in gene expression profiles,particularly in the granulosa cells,suggest that these cells play a critical role in female *** findings also highlight the importance of genes such as JPH1,LOC101112291,FTH1,and FTL in regulating granulosa cell function and follicular development.

关键词： Granulosa cells Hu sheep Lambing number Ovarian somatic cells Single-cell RNA sequencing

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Multi-omics revealed the mechanism of feed efficiency in sheep by the combined action of the host and rumen microbiota

引用

Animal Nutrition 2024年第3期18卷 367-379页

作者： Guangchen Zhou Junda Li Xuhui Liang Bohua Yang Ximeng He Hongyu Tang Hongran Guo Gongwei Liu Wenyuan Cui Yulin Chen Yuxin Yang Key laboratory of Animal Genetics Breeding and Reproduction of Shaanxi ProvinceCollege of Animal Science and TechnologyNorthwest A&F UniversityYangling 712100China

This study was conducted to investigate potential regulatory mechanisms of feed efficiency(FE)in sheep by linking rumen microbiota with its host by the multi-omics *** hundred and ninety-eight hybrid female sheep(initial body weight=30.88±4.57 kg;4-month-old)were selected as candidate *** test sheep was fed in an individual pen for 60 days,and the residual feed intake(RFI)was *** ten candidate sheep with the highest RFI were divided into the Low-FE group,and the ten with the lowest RFI were divided into the High-FE group,all selected for sample *** RFI,average daily gain and average daily feed intake were highly significantly different between the two experimental groups(P<0.05).Compared with Low-FE group,the insulin-like growth factor-1 and very low-density lipoprotein in serum and the propionate in rumen significantly increased in High-FE group(P<0.01),but the acetate:propionate ratio in rumen significantly decreased in High-FE group(P¼0.034).Metagenomics revealed Selenomonas ruminantium,Selenomonas *** Faecalibacterium prausnitzii were key bacteria,and increased abundance of the genes encoding the enzymes for cellulose degradation and production of propionate in High-FE *** results of proteomics and section showed the rumen papilla length and expression of carbonic anhydrase and Na^(+)/K^(+)-ATPase were significantly higher in High-FE group(P<0.05).On the other hand,the acetyl-CoA content significantly increased in the liver of High-FE group(P¼0.002).The relative expression levels of insulin-like growth factor-1 and apolipoprotein A4 genes were significantly up-regulated in the liver of High-FE group(P<0.05),but relative expression level of monoacylglycerol O-acyltransferase 3 gene was significantly down-regulated(P¼0.037).These findings provide the mechanism by which the collaborative interaction between rumen microbiota fermentation and host uptake and metabolism of fermentation products impacts feed efficiency tr

关键词： Residual feed intake Sheep Microbial composition Rumen proteome Liver transcriptome Metabolite

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Excessive level of dietary insect protein negatively changed growth metabolomic and transcriptomic profiles of largemouth bass(Micropterus salmoides)

引用

Animal Nutrition 2024年第2期17卷 397-407页

作者： Hao Sun Wenjing Dong Guanglun He Yong Long Yuanfa He Yongjun Chen Shimei Lin College of Fisheries Southwest University College of Fisheries Key Laboratory of Freshwater Fish Reproduction and Development (Ministry of Education) Southwest University State Key laboratory of Freshwater Ecology and Biotechnology Institute of Hydrobiology Chinese Academy of Sciences

Hermetia illucens(HI) meal is a promising substitute for fish meal(FM) in the feeds of farmed ***, the impacts of dietary HI meal on largemouth bass(LMB) remain unknown. In this study, we formulated three isonitrogenous and isolipid diets with 0%(HI0, control), 20%(HI20) and 40%(HI40) of FM substituted by HI meal. A total of 270 juvenile largemouth bass with an initial body weight of10.02 ± 0.03 g were used(30 fish per tank). After an 80-day feeding trial, the fish fed with the HI40 diet demonstrated decreased growth performance and protein efficiency ratio(PER), and increased liver oxidative indices and lipid accumulation compared to the control(P unity and maintenance of tissue homeostasis. Differential metabolites in the liver samples were also identified by untargeted metabolomic assay. The results of joint transcriptomic-metabolomic analyses revealed that the pathways such as one carbon pool by folate, propanoate metabolism and alpha-linolenic acid metabolism were disturbed by high dietary HI meal. In summary, our data revealed the candidate genes, metabolites and biological pathways that account for the adverse effects of high HI meal diet on the growth and health of LMB.

关键词： Hermetia illucens Growth Transcriptome Metabolomic effect Micropterus salmoides

来源：

同方期刊数据库评论

在线全文

同方期刊数据库

学校读者我要写书评

暂无评论

Nrf2-mediated ferroptosis of spermatogenic cells involved in male reproductive toxicity induced by polystyrene nanoplastics in mice

引用

Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2024年第4期25卷 307-323页

作者： Xufeng FU Hang HAN Hong YANG Bo XU Wenjie DAI Ling LIU Tiantian HE Xing DU Xiuying PEI Key laboratory of Fertility Preservation and Maintenance of Ministry of Education School of Basic Medical SciencesNingxia Medical UniversityYinchuan 750004China Key laboratory of reproduction and Genetics in Ningxia Ningxia Medical UniversityYinchuan 750004China

Microplastics(MPs)and nanoplastics(NPs)have become hazardous materials due to the massive amount of plastic waste and disposable masks,but their specific health effects remain *** this study,fluorescence-labeled polystyrene NPs(PS-NPs)were injected into the circulatory systems of mice to determine the distribution and potential toxic effects of NPs in ***,whole-body imaging found that PS-NPs accumulated in the testes of ***,the toxic effects of PS-NPs on the reproduction systems and the spermatocytes cell line of male mice,and their mechanisms,were *** oral exposure to PS-NPs,their spermatogenesis was affected and the spermatogenic cells were *** spermatocyte cell line GC-2 was exposed to PS-NPs and analyzed using RNA sequencing(RNA-seq)to determine the toxic mechanisms;a ferroptosis pathway was found after PS-NP *** phenomena and indicators of ferroptosis were then determined and verified by ferroptosis inhibitor ferrostatin-1(Fer-1),and it was also found that nuclear factor erythroid 2-related factor 2(Nrf2)played an important role in spermatogenic cell ferroptosis induced by ***,it was confirmed in vivo that this mechanism of Nrf2 played a protective role in PS-NPs-induced male reproductive *** study demonstrated that PS-NPs induce male reproductive dysfunction in mice by causing spermatogenic cell ferroptosis dependent on Nrf2.

关键词： Polvstyrene nanoplastics(PS-NPs) Reproductive toxicity Ferroptosis Nuclear factor ervthroid 2-related factor 2(Nrf2)

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Microbiome-friendly PS/PVP electrospun fibrous membrane with antibiofilm properties for dental engineering

引用

Regenerative Biomaterials 2024年第4期3卷 27-37页

作者： Jiamin Chen Jia Guo Xueyun Lu Derong Yin Cuisong Zhou Yuqing Li Xuedong Zhou State Key laboratory of Oral Diseases National Clinical Research Center for Oral DiseasesDepartment of Operative Dentistry and EndodonticsWest China Hospital of StomatologySichuan UniversityChengduSichuan610041China Stomatological Hospital affiliated Suzhou Vocational Health College Department of Operative Dentistry and EndodonticsSuzhou215000China College of Chemistry Sichuan UniversityChengduSichuan610064China

Dental caries is one of the most prevalent and biofilm-associated oral diseases in *** mutans,with a high ability to form biofilms by adhering to hard surfaces,has been established as an important etiological agent for dental ***,it is crucial to find a way to prevent the formation of cariogenic ***,we report an electrospun fibrous membrane that could inhibit the adhesion and biofilm formation of ***,the polystyrene(PS)/polyvinyl pyrrolidone(PVP)electrospun fibrous membrane altered the 3D biofilm architecture and decreased water-insoluble extracellular polysaccharide ***,the anti-adhesion mechanism which laid in Coulomb repulsion between the negatively charged PS/PVP electrospun fibrous membrane and *** was detected by zeta ***,metagenomics sequencing analysis and CCK-8 assay indicated that PS/PVP electrospun fibrous membrane was microbiome-friendly and displayed no influence on the cell viability of human gingival epithelial cells and human oral ***,an in vitro simulation experiment demonstrated that PS/PVP electrospun fibrous membrane could decrease colony-forming unit counts of *** effectively,and PS/PVP electrospun fibrous membrane carrying calcium fluoride displayed better anti-adhesion ability than that of PS/PVP electrospun fibrous membrane ***,this research showed that the PS/PVP electrospun fibrous membrane has potential applications in controlling and preventing dental caries.

关键词： Streptococcus mutans PS/PVP electrospun fibrous membrane biofilm(s) anti-adhesion Coulomb repulsion

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：