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Journal of Genetics and Genomics 2011年第4期38卷 149-156页

作者： Zhenping Xu Yulei Li Xiangyang Zhang Fanming Zeng Mingxiong Yuan Mugen Liu qing kenneth wang Jing Yu Liu Key Laboratory of Molecular Biophysics of the Ministry of Education Center for Human Genome ResearchCollege of Life Science and TechnologyHuazhong University of Science and TechnologyWuhan 430074China Key Open Laboratory for Tissue Regeneration of Henan Universities Department of Life Science and TechniqueXinxiang Medical UniversityXinxiang 453003China Department of Molecular Cardiology Cleveland ClinicClevelandOH 44195USA

Osteogenesis imperfecta（OI,also known as brittle bone disease）is caused mostly by mutations in two type I collagen genes,COL1A1 and COLIA2 encoding the pro-α1（I）and pro-α2（I）chains of type I collagen,*** Chinese families with autosomal dominant OI were identified and *** analysis revealed linkage of both families to COL1A2 on chromosome *** analysis was carried out using direct DNA sequence *** novel missense mutations,c.3350AG and c.3305GC,were identified in exon 49 of COL1A2 in the two families,*** c.3305GC mutation resulted in substitution of a glycine residue（G）by an alanine residue（A）at codon 1102（p.G1102A）,which was found to be mutated into serine（S）,argine（R）,aspartic acid（D）,or valine（V）in other *** c.3350AG variant may be a de novo mutation resulting in *** mutations co-segregated with OI in respective families,and were not found in 100 normal *** G1102 and Y1117 residues were evolutionarily highly conserved from zebrafish to *** analysis did not identify any mutation in the COX-2 gene（a modifier gene of OI）.This study identifies two novel mutations p.G1102A and p.Y1117C that cause OI,significantly expands the spectrum of COL1A2 mutations causing OI,and has a significant implication in prenatal diagnosis of OI.

关键词： Osteogenesis imperfecta Mutation COL1A2 COX-2

儿茶酚胺介导的多形性室速患者家系CASQ2基因F189L突变的基因分析

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中华医学遗传学杂志 2008年第3期25卷 334-337页

作者：刘茜蓓 Carlos Oberti 张贤钦柯铁张腾 Melvin Scheinman 胡大一王擎北京大学人民医院心内科 100044 北京大学深圳医院心内科 Department of Molecular Cardiology Center for Cardiovascular GeneticsLemer Research InstituteThe Cleveland ClinicClevelandOH 44195U.S.A 华中科技大学生命科学与技术学院人类基因组研究中心 Electrophysiology Service Section of CardiologyDepartment of MedicineUniversity of CaliforniaSan FranciscoCA 94143-1354U.S.A

目的在27例儿茶酚胺介导的多形性室速患者及家庭成员中寻找CASQ2基因突变。方法应用直接DNA序列分析对临床诊断为家族性多形性室速27例患者及家庭成员进行进行基因突变分析。应用Taqman基因分型检测在以1400名正常人群中确定CASQ2变异... 详细信息

目的在27例儿茶酚胺介导的多形性室速患者及家庭成员中寻找CASQ2基因突变。方法应用直接DNA序列分析对临床诊断为家族性多形性室速27例患者及家庭成员进行进行基因突变分析。应用Taqman基因分型检测在以1400名正常人群中确定CASQ2变异的频率。结果在一个多形性室速家系中发现了1个新的杂合子改变F189L。通过与多种生物比对，证实该改变发生于在第2结构域一个高度保守的氨基酸上，位于第5外显子的F189L的改变，使编码蛋白的第189位氨基酸由苯丙氨酸改变为亮氨酸。应用Taqman SNP genotyping assay分析方法证实正常人群1400名中未发现同样改变。在CASQ2基因中未发现其他引起疾病的基因突变。结论发现了CASQ2基因的1个新F189L突变。

关键词：心律失常儿茶酚胺介导的多形性室速 CASQ2基因

Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature

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World Journal of Gastroenterology 2018年第35期24卷 4086-4092页

作者： Hui-Hui wang Fei-Qiu Wen Dong-Ling Dai Jian-She wang Jing Zhao kenneth DR Setchell Li-Na Shi Shao-Ming Zhou Si-Xi Liu qing-Hua Yang Gastroenterology Department Shenzhen Children’s Hospital Center for Pediatric Liver Diseases Children’s Hospital of Fudan University Department of Pathology and Laboratory Medicine Cincinnati Children’s Hospital Medical Center My Genostics Incorporation Konggang Industrial Park

Steroid 5β-reductase [aldo-keto reductase family 1 member D1(AKR1D1)] is essential for bile acid biosynthesis. Bile acid deficiency caused by genetic defects in AKR1D1 leads to life-threatening neonatal hepatitis and cholestasis. There is still limited experience regarding the treatment of this disease. We describe an infant who presented with hyperbilirubinemia and coagulopathy but normal bile acid and γ-glutamyltransferase. Gene analysis was performed using genomic DNA from peripheral lymphocytes from the patient, his parents, and his elder brother. The patient was compound heterozygous for c.919C>T in exon 8 and exhibited a loss of heterozygosity of the AKR1D1 gene, which led to an amino acid substitution of arginine by cysteine at amino acid position 307(p.R307C). Based on these mutations, the patient was confirmed to have primary 5β-reductase deficiency. Ursodeoxycholic acid(UDCA) treatment did not have any effect on the patient. However, when we changed to chenodeoxycholic acid(CDCA) treatment, his symptoms and laboratory tests gradually improved. It is therefore crucial to supplement with an adequate dose of CDCA early to improve clinical symptoms and to normalize laboratory tests.

关键词： Aldo-keto reductase family 1 member D1 Cholestasis Congenital bile acid synthesis defect Gene mutation

Electrochemiluminescence of Bare Glassy Carbon with Benzoyl Peroxide as the Coreactant in N,N-Dimethylformamide

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Journal of Analysis and Testing 2020年第4期4卷 257-263页

作者： ShuiJian He kenneth Chu Jonathan Michael Wong Liu-qing Yang Jonathan Ralph Adsetts Rui-Zhong Zhang Yan-Hua Chen Zhi-Feng Ding College of Materials Science and Engineering Jiangsu Co-Innovation Center of Efficient Processing and Utilization of Forest ResourcesNanjing Forestry UniversityNanjing 210037China Department of Chemistry The University of Western OntarioLondonON N6A 5B7Canada Tianjin Key Laboratory of Molecular Photoelectronic Sciences Department of ChemistryTianjin UniversityTianjin 300072China

The electrochemiluminescence(ECL)properties of many carbon materials have been reported with glassy carbon(GC),Pt,Au or indium tin oxide(ITO)as the working electrode(WE).As one type of carbon materials,GC itself can generate ECL *** research groups have already noticed the ECL signal from GC WE and reported the results of GC WE with respect to their ***,comprehensive analyses of ECL properties of GC WE are ***,the ECL properties of GC WE in organic electrolyte with benzoyl peroxide as the coreactant are *** results are of great importance to distinguish the true ECL data of luminophores from that of GC.

关键词： Glassy carbon Electrochemiluminescence(ECL) Spooling ECL spectroscopy ECL intensity Coreactant Benzoyl peroxide

Coordinated peak expression of MMP-26 and TIMP-4 in preinvasive human prostate tumor

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Cell Research 2006年第9期16卷 750-758页

作者： SeakwooLee KevinKDesai kenneth A Iczkowski Robert G Newcomer Kevin J Wu Winston W Tan MarkDRoycik qing-XiangAmySang Department of Chemistry and Biochemistry and Institute of Molecular Biophysics Florida State UniversityTallahasseeFL 32306USA Department of Pathology and Laboratory Medicine Veterans Affairs Medical CenterGainesvilleFL 32608USA Department of PathologyImmunologyand Laboratory of MedicineUniversity of Florida College of MedicineGainesvilleFL 32610USA Department of Pathology MedicineMayo ClinicJacksonvilleFL 32224USA Department of Internal Medicine Hematology/Oncology Mayo ClinicJacksonvilleFL 32224USA

The identification of novel biomarkers for early prostate cancer diagnosis is highly important because early detectionand treatment are critical for the medical management of *** in the continuity of both the basal celllayer and basement membrane is essential for the progression of high-grade prostatic intraepithelial neoplasia (HGPIN)to invasive adenocarcinoma in human *** molecules involved in the conversion to an invasive phenotype arethe subject of intense *** have previously reported that matrix metalloproteinase-26 (MMP-26) promotes theinvasion of human prostate cancer cells via the cleavage of basement membrane proteins and by activating the zymogenform of ***,we have found that tissue inhibitor of metalloproteinases-4 (TIMP-4) is the most potentendogenous inhibitor of *** we demonstrate higher (p<0.0001) MMP-26 and TIMP-4 expression in HGPINand cancer,compared to non-neoplastic *** expression levels are highest in HGP1N,but decline in invasive cancer(p<0.001 for each) in the same *** staining of serial prostate cancer tissue sections suggestscolocalization of MMP-26 and *** present study indicates that MMP-26 and TIMP-4 may play an integral roleduring the conversion of HGPIN to invasive cancer and may also serve as markers for early prostate cancer diagnosis.

关键词： matrix metalloproteinase-26 tissue inhibitor of metalloproteinases-4 high-grade prostatic intraepithelial neoplasia prostate cancer biomarkers early diagnosis immunohistochemistry co-immunoprecipitation

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神经管过表达BRE基因促进体节形成和分化

基础医学与临床 2011年第12期31卷 1309-1313页

作者：雷健王广李艳常青 kenneth KH Lee John YH Chan 杨雪松暨南大学医学院组织与胚胎学教研室再生医学教育部重点实验室广东广州510632 香港中文大学解剖系

目的探讨BRE基因对鸡胚胎早期体节发育的作用。方法显微注射法将含有BRE基因的质粒注射入HH10期鸡胚神经管,活体胚胎细胞电穿孔方法转染半侧神经管,以另一侧为正常对照侧,原位杂交及免疫荧光法观察过表达BRE基因后体节的发育。结果 BRE... 详细信息

目的探讨BRE基因对鸡胚胎早期体节发育的作用。方法显微注射法将含有BRE基因的质粒注射入HH10期鸡胚神经管,活体胚胎细胞电穿孔方法转染半侧神经管,以另一侧为正常对照侧,原位杂交及免疫荧光法观察过表达BRE基因后体节的发育。结果 BRE基因在鸡胚表达始于神经板,而后高表达在脑泡、神经管及体节。过表达BRE基因后,神经管形态及PAX7和FGF8表达与对照侧相比无明显异常,而实验侧体节PAX7标记发现生皮肌节较大,FGF8表达与对照侧相比无明显异常。结论过表达BRE基因对体节的形成和分化有促进作用,其机制可能与PAX7相关。

关键词：神经管体节 BRE PAX7 FGF8

Structural determinants specific for retromer protein sorting nexin 5 in regulating subcellular retrograde membrane trafficking

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The Journal of Biomedical Research 2023年第6期37卷 492-506页

作者： qing Chen Meiheng Sun Xu Han Hongfei Xu Yongjian Liu Jiangsu Key Laboratory of Xenotransplantation and Department of Medical GeneticsNanjing Medical UniversityNanjingJiangsu 211166China Department of Neuroscience University of Pittsburgh Kenneth P.Dietrich School of Arts and SciencesPittsburghPA 15260USA

The endosomal trafficking of signaling membrane proteins, such as receptors, transporters and channels, is mediated by the retromer-mediated sorting machinery, composed of a cargo-selective vacuolar protein sorting trimer and a membrane-deforming subunit of sorting nexin proteins. Recent studies have shown that the isoforms, sorting nexin 5 (SNX5) and SNX6, have played distinctive regulatory roles in retrograde membrane trafficking. However, the molecular insight determined functional differences within the proteins remains unclear. We reported that SNX5 and SNX6 had distinct binding affinity to the cargo protein vesicular monoamine transporter 2 (VMAT2). SNX5, but not SNX6, specifically interacted with VMAT2 through the Phox domain, which contains an alpha-helix binding motif. Using chimeric mutagenesis, we identified that several key residues within this domain were unique in SNX5, but not SNX6, and played an auxiliary role in its binding to VMAT2. Importantly, we generated a set of mutant SNX6, in which the corresponding key residues were mutated to those in SNX5. In addition to the gain in binding affinity to VMAT2, their overexpression functionally rescued the altered retrograde trafficking of VMAT2 induced by siRNA-mediated depletion of SNX5. These data strongly suggest that SNX5 and SNX6 have different functions in retrograde membrane trafficking, which is determined by the different structural elements within the Phox domain of two proteins. Our work provides a new information on the role of SNX5 and SNX6 in the molecular regulation of retrograde membrane trafficking and vesicular membrane targeting in monoamine neurotransmission and neurological diseases.

关键词： vesicular monoamine transporter 2 SNX5 SNX6 retromer retrograde trafficking

Environmental heavy metals and cardiovascular diseases:Status and future direction

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Chronic Diseases and Translational Medicine 2020年第4期6卷 251-259页

作者： Ai-Min Yang kenneth Lo Tong-Zhang Zheng Jing-Li Yang Ya-Na Bai Ying-qing Feng Ning Cheng Si-Min Liu Hong Kong Institute of Diabetes and Obesity The Chinese University of Hong KongHong Kong SARChina Centre for Global Cardiometabolic Health Department of EpidemiologySurgeryand MedicineBrown UniversityProvidenceRI 02903USA Department of Epidemiology School of Public HealthBrown UniversityProvidenceRI 02903USA Department of Cardiology and Endocrinology Guangdong Provincial People's HospitalGuandong Academy of Medical SciencesGuangzhouGuangdong 510080China Department of Epidemiology School of Public HealthLanzhou UniversityLanzhouGansu 730000China

Cardiovascular disease(CVD)and environmental degradation are leading global health problems of our *** studies have linked exposure to heavy metals to the risks of CVD and diabetes,particularly in populations from low-and middle-income countries,where concomitant rapid development *** this review,we 1)assessed the totality,quantity,and consistency of the available epidemiological studies,linking heavy metal exposures to the risk of CVD(including stroke and coronary heart disease);2)discussed the potential biological mechanisms underlying some tantalizing observations in humans;and 3)identified gaps in our knowledge base that must be investigated in future *** accumulating body of evidence from both experimental and obser-vational studies implicates exposure to heavy metals,in a dose-response manner,in the increased risk of *** limitations of most existing studies include insufficient statistical power,lack of comprehensive assessment of exposure,and cross-sectional *** the widespread exposure to heavy metals,an urgent need has emerged to investigate these putative associations of environmental exposures,either independently or jointly,with incident CVD outcomes prospectively in well-characterized cohorts of diverse populations,and to determine potential strategies to prevent and control the impacts of heavy metal exposure on the cardiometabolic health outcomes of individuals and populations.

关键词： Heavy metal Cardiovascular disease Hypertension Stroke Coronary heart disease

Nat Microbiol：已结首次构建出小鼠肠道微生物组数据库

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现代生物医学进展 2016年第32期16卷 I0003-I0003页

作者： Lu, Qiulun Yao, Yufeng Hu, Zhenkun Hu, Changqing Song, Qixue Ye, Jian Xu, Chengqi wang, Annabel Z. Chen, Qiuyun wang, qing kenneth Huazhong Univ Sci & Technol Coll Life Sci & Technol Minist Educ Key Lab Mol Biophys Wuhan Peoples R China Huazhong Univ Sci & Technol Ctr Human Genome Res Wuhan Peoples R China Duke Univ Durham NC USA Cleveland Clin Dept Mol Cardiol Ctr Cardiovasc Genet Cleveland OH 44106 USA Case Western Reserve Univ Dept Mol Med Cleveland Clin Lerner Coll Med Cleveland OH 44106 USA Case Western Reserve Univ Dept Genet & Genome Sci Cleveland OH 44106 USA

小鼠模型通常被广泛用于药理学和医学研究。我们都知道小鼠肠道中的微生物群落通常会对研究结果产生明显的影响，然而目前研究者们并没有获取到关于小鼠肠道中栖息细菌群落的详细信息。近日刊登在国际杂志Nature Microbiology上的一篇... 详细信息

小鼠模型通常被广泛用于药理学和医学研究。我们都知道小鼠肠道中的微生物群落通常会对研究结果产生明显的影响，然而目前研究者们并没有获取到关于小鼠肠道中栖息细菌群落的详细信息。近日刊登在国际杂志Nature Microbiology上的一篇研究报告中。德国慕尼黑理工大学的研究者通过研究首次收集到了小鼠肠道中的多种细菌群落。同时研究者还对其进行了分裂、特性分析。最后得到了100种细菌，其中还包括15种迄今为止未知的细菌群落。

关键词：肠道微生物小鼠模型 Nat 数据库细菌群落微生物群落药理学慕尼黑