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Mining the 3′UTR of Autism-implicated Genes for SNPs Perturbing MicroRNA Regulation

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Genomics, Proteomics & Bioinformatics 2014年第2期12卷 92-104页

作者： Varadharajan Vaishnavi Mayakannan Manikandan Arasambattu Kannan Munirajan department of genetics Dr. ALM PG Institute of Basic Medical Sciences University of Madras

Autism spectrum disorder（ASD） refers to a group of childhood neurodevelopmental disorders with polygenic etiology. The expression of many genes implicated in ASD is tightly regulated by various factors including microRNAs（miRNAs）, a class of noncoding RNAs 22 nucleotides in length that function to suppress translation by pairing with ‘miRNA recognition elements’（MREs） present in the 30untranslated region（30UTR） of target mRNAs. This emphasizes the role played by miRNAs in regulating neurogenesis, brain development and differentiation and hence any perturbations in this regulatory mechanism might affect these processes as well. Recently, single nucleotide polymorphisms（SNPs） present within 30UTRs of mRNAs have been shown to modulate existing MREs or even create new MREs. Therefore, we hypothesized that SNPs perturbing miRNA-mediated gene regulation might lead to aberrant expression of autism-implicated genes, thus resulting in disease predisposition or pathogenesis in at least a subpopulation of ASD individuals. We developed a systematic computational pipeline that integrates data from well-established databases. By following a stringent selection criterion, we identified 9 MRE-modulating SNPs and another 12 MRE-creating SNPs in the 30UTR of autism-implicated genes. These high-confidence candidate SNPs may play roles in ASD and hence would be valuable for further functional validation.

关键词： Autism spectrum disorder MicroRNA Single nucleotide polymorphism 30UTR-SNP Gene regulation

Interleukin and interleukin receptor gene polymorphisms in inflammatory bowel diseases susceptibility

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World Journal of Gastroenterology 2014年第12期20卷 3208-3222页

作者： Lili Magyari Erzsebet Kovesdi Patricia Sarlos Andras Javorhazy Katalin Sumegi Bela Melegh department of medical genetics University of Pecs Szentagothai Research Centre 1~(st) department of Internal Medicine University of Pecs department of Urology University of Pecs

Inflammatory bowel disease (IBD), which includes Crohn’s disease (CD) and ulcerative colitis (UC), represents a group of chronic inflammatory disorders caused by dysregulated immune responses in genetically predisposed individuals. Genetic markers are associated with disease phenotype and long-term evolution, but their value in everyday clinical practice is limited at the moment. IBD has a clear immunological background and interleukins play key role in the process. Almost 130 original papers were revised including meta-analysis. It is clear these data are very important for understanding the base of the disease, especially in terms of clinical utility and validity, but text often do not available for the doctors use these in the clinical practice nowadays. We conducted a systematic review of the current literature on interleukin and interleukin receptor gene polymorphisms associated with IBD, performing an electronic search of PubMed Database from publications of the last 10 years, and used the following medical subject heading terms and/or text words: IBD, CD, UC, interleukins and polymorphisms.

关键词： Inflammatory bowel disease, Crohn’ s disease, Ulcerative colitis, Interleukin, Interleukin receptor, Polymorphisms

Tcf7l1 promotes transcription of Kruppel-like factor 4 during Xenopus embryogenesis

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The Journal of Biomedical Research 2018年第3期32卷 215-221页

作者： Qing Cao Yan Shen Wei Zheng Hao Liu Chen Liu College of Medicine Henan University of Science and Technology department of Developmental genetics Nanjing Medical University

Kruppel-like factor 4（Klf4） is a zinc finger transcription factor and plays crucial roles in Xenopus ***, its regulation during embryogenesis is still unclear. Here, we report that Tcf711, a key downstream transducer of the Wnt signaling pathway, could promote Klf4 transcription and stimulate Klf4 promoter activity in early Xenopus embryos. Furthermore, cycloheximide treatment showed a direct effect on Klf4 transcription facilitated by Tcf711. Moreover, the dominant negative form of Tcf711（dnTcf711）, which lacks N-terminus of the β-catenin binding motif, could still activate Klf4 transcription, suggesting that this regulation is Wnt/β-catenin *** together, our results demonstrate that Tcf711 lies upstream of Klf4 to maintain its expression level during Xenopus embryogenesis.

关键词： Kruppel-like factor 4(Klf4) Tcf711 transcription regulation Xenopus laevis

ECRG4: a new potential target in precision medicine

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Frontiers of Medicine 2019年第5期13卷 540-546页

作者： Xin Qin Ping Zhang medical College Hubei University of Arts and ScienceXiangyartg 441053China State Key Laboratory of Cancer Biology Department of Medical Genetics and Developmental BiologyFourth Military Medical UniversityXi'an 710032China

Given the rapid development in precision medicine, tremendous efforts have been devoted to discovering new biomarkers for disease diagnosis and treatment. Esophageal cancer-related gene-4 (ECRG4),which is initially known as a new candidate tumor suppressor gene, is emerging as a sentinel molecule for gauging tissue homeostasis. ECRG4 is unique in its cytokine-like functional pattern and epigenetically-regulated gene expression pattern. The gene can be released from the cell membrane upon activation and detected in liquid biopsy, thus offering considerable potential in precision medicine. This review provides an updated summary on the biology of ECRG4, with emphasis on its important roles in cancer diagnosis and therapy. The future perspectives of ECRG4 as a potential molecular marker in precision medicine are also discussed in detail.

关键词： ECRG4 tumor suppressor gene sentinel molecule precision medicine cell senescence epithelium homeostasis

The mRNA Binding Proteome of Proliferating and Differentiated Muscle Cells

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Genomics, Proteomics & Bioinformatics 2020年第4期18卷 384-396页

作者： Monika Hiller Miriam Geissler George Janssen Peter van Veelen Annemieke Aartsma-Rus Pietro Spitali department of Human genetics Leiden University Medical CenterLeiden 2333 ZCthe Netherlands Center for Proteomics and Metabolomics Leiden University Medical CenterLeiden 2333 ZCthe Netherlands

Muscle formation is a coordinated process driven by extensive gene expression changes where single cells fuse together to form multinucleated muscle fibers. Newly synthesized m RNAs are then regulated by RNA binding proteins(RBPs), affecting post-transcriptional transcript metabolism. Here, we determined how large-scale gene expression changes affect the catalog of RBPs by studying proliferating and differentiated muscle cells in healthy and dystrophic conditions. Transcriptomic analysis showed that the expression of more than 7000 genes was affected during myogenesis. We identified 769 RBPs, of which 294 were muscle-specific and 49 were uniquely shared with cardiomyocytes. A subset of 32 RBPs(half of which were muscle-specific) was found to be preferentially associated with target mRNAs in either myoblasts(MBs) or myotubes(MTs). A large proportion of catalytic proteins were bound to mRNAs even though they lack classical RNA binding domains. Finally, we showed how the identification of cell-specific RBPs enabled the identification of biomarkers that can separate healthy individuals from dystrophic patients. Our data show how interactome data can shed light on new basic RNA biology as well as provide cell-specific data that can be used for diagnostic purposes.

关键词： RNA binding protein Interactome Duchenne muscular dystrophy Proteomics Skeletal muscle

Synthesis and Properties of Ag-doped Titanium-10 wt% 45S5 Bioglass Nanostructured Scaffolds

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Acta Metallurgica Sinica(English Letters) 2015年第4期28卷 467-476页

作者： K.Jurczyk A.Miklaszewski K.Niespodziana M.Kubicka M.U.Jurczyk M.Jurczyk department of Conservative Dentistry and Periodontology Poznan University of Medical Sciences Institute of Materials Science and Engineering Poznan University of Technology department of genetics and Pharmaceutical Microbiology Faculty of PharmacyPoznan University of Medical Sciences Division Mother’s and Child’s Health Poznan University of Medical Sciences

A new kind of biomedical Ti-45S5 Bioglass-Ag nanocomposites and their scaffolds with antibacterial function was developed by the introduction of 1.5 wt% Ag into the Ti-10 wt% 45S5 Bioglass matrix. The microstructure, hardness and corrosion resistance in Ringer solution of the Ag-doped Ti-45S5 glass were investigated. The Vickers hardness of the bulk Ti-10 wt% 45S5 Bioglass-1.5 wt% Ag nanocomposites reached 480 HVo.3. Contact angles of water on the micro- crystalline Ti and nanostructured Ti-10 wt% 45S5 Bioglass-1.5 wt% Ag sample were determined and show visible decrease from 55.2° to 49.6°. In vitro tests culture of normal human osteoblast cells showed very good cells proliferation, colonization and multilayering. In vitro bacterial adhesion study indicated a significantly reduced number of bacteria （Staphylococcus aureus） on the bulk nanostructured Ti-10 wt% 45S5 Bioglass-1.5 wt% Ag plate surface in comparison with that on microcrystalline Ti plate surface. Development of porous Ti-10 wt% 45S5 Bioglass-1.5 wt% Ag scaffolds aims in enhancing bone ingrowth and prosthesis fixation.

关键词： Biomaterials Nanocrystalline materials Titanium 45S5 Bioglass

Single-copy Loss of Rho Guanine Nucleotide Exchange Factor 10(arhgef10)Causes Locomotor Abnormalities in Zebrafish Larvae

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Biomedical and Environmental Sciences 2022年第1期35卷 35-44页

作者： ZHANG Yi AN Ming Xing GONG Chen LI Yang Yang WANG Yu Tong LIN Meng LI Rong TIAN Chan department of Obstetrics and Gynecology Center for Medical GeneticsSchool of Basic Medical SciencesThird HospitalPeking UniversityBeijing 100191China Key Laboratory of Assisted Reproduction(Peking University) Ministry of EducationBeijing 100191China Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology Beijing 100191China National Clinical Research Center for Obstetrics and Gynecology Beijing 100191China department of medical genetics Center for Medical GeneticsPeking University Health Science CenterBeijing 100191China

Objective To determine if ARHGEF10 has a haploinsufficient effect and provide evidence to evaluate the severity,if any,during prenatal *** Zebrafish was used as a model for generating *** pattern of arhgef10 expression in the early stages of zebrafish development was observed using whole-mount in situ hybridization(WISH).CRISPR/Cas9 was applied to generate a zebrafish model with a single-copy or homozygous arhgef10 *** and light/dark tests were performed in arhgef10^(−/−),arhgef10^(+/−),and wild-type zebrafish ***10 was knocked down using small interferon RNA(siRNA)in the SH-SY5Y cell line,and cell proliferation and apoptosis were determined using the CCK-8 assay and Annexin V/PI staining,*** WISH showed that during zebrafish embryonic development arhgef10 was expressed in the midbrain and hindbrain at 36-72 h post-fertilization(hpf)and in the hemopoietic system at 36-48 *** zebrafish larvae with single-copy and homozygous arhgef10 deletions had lower exercise capacity and poorer responses to environmental changes compared to wild-type zebrafish ***,arhgef10^(−/−) zebrafish had more severe symptoms than arhgef10^(+/-) *** of ARHGEF10 in human neuroblastoma cells led to decreased cell proliferation and increased cell *** Based on our findings,ARHGEF10 appeared to have a haploinsufficiency effect.

关键词： arhgef10 Zebrafish CRISPR/Cas9 Haploinsufficiency Copy loss

Local and Global Abnormalities in Pre-symptomatic Huntington’s Disease Revealed by 7T Resting-state Functional MRI

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Neuroscience Bulletin 2023年第1期39卷 94-98页

作者： Juan-Juan Xie Xiao-Yan Li Yi Dong Cong Chen Bo-Yi Qu Shuang Wang Han Xu Anna Wang Roe Hsin-Yi Lai Zhi-Ying Wu department of Neurology and department of medical genetics in the Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang ProvinceZhejiang University School of MedicineHangzhou 310009China

DearEditor,Huntington's disease(HD)is an autosomal dominant neurodegenerative disease caused by the abnormal expansion of CAG repeat in the HTT *** CAG-Age Product(CAP),a quantity associated with age and CAG repeat le... 详细信息

关键词： Huntington pathology frequent

Preliminary Report of Molecular Detection of Retinoblastoma Gene Mutations

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眼科学报 1994年第1期10卷 1-5页

作者： Ruiping Zeng, Xiaoling Jiang, Qingjiong Zhang Bing Hu, Youzhao Chen,Depatrment of medical genetics, Sun Yat-sen University of medical Sciences Guangzhou 510089, ChinaZhongshan Ophathalmic Center, Sun Yat-sen University of medical Sciences Guangzhou 510060, ChinaNational Ophthalmological Laboratories, Ministry of Public health , China Guangzhou 510060, ChinaNanjing medical Schoool, Nanjing 210000, China department of medical genetics Sun Yat-sen University of Medical Sciences Guangzhou China.

To develop gene diagnosis for retinoblastoma predisposition, it is necessary to disclose the retinoblastoma gene mutations or deletions in detail. Genomic DNA from tumor and peripheral white blood cells in 33 patients with retinoblastoma was detected with 3.8kb probe derived from 3' end of retinoblastoma gene cDNA. The gene abnormalities, including deletion, partial deletion and rearrangement, were found in 18 patients. Further research will be aimed at microdeletions or mutations for those patients wti...

关键词： retinoblastoma Rb gene probe Southern blot hybridization