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Allelic distributions of CYP2D6 gene copy number variation in the Eastern Han Chinese population

Acta Pharmacologica sinica 2007年第2期28卷 279-286页

作者： Hai-hui sHENG~(2,6) Ai-ping ZENG~(3,6) Wen-xiang ZHU~2 Ren-fang ZHU~3 Hong-mei LI~2 Zhi-dong ZHU~2 Ying QIN~2 Wei JIN~4 Yan LIU~4 Yun-lan DU~5 Jian sUN~5 Hua-sheng XIAO~(2,7)2 National Engineering Center for Biochip at shanghai,shanghai 201203,china 3 department of Clinical Laboratory,Wenling No 1 People's hospital,Wenzhou Medical College,Wenzhou 317500,china 4 department of Cardiology,Ruijin hospital,Medical College,shanghai Jiaotong University,shanghai 200025 5 department of neurology,shanghai Gongli hospital,shanghai 200135,china NationalEngineeringCenterforBiochipatshanghai Shanghai201203China departmentofClinicalLaboratory WenlingNo1People'sHospitalWenzhouMedicalCollegeWenzhou317500China

Aim:The human cytochrome P450 2D6(CYP2D6)gene copy number variation,involving CYP2D6 gene deletion(CYP2D6*5)and duplication or multiduplication(CYP2D6*×N),can result in reduced or increased metabolism of many clinicallyused *** identification of CYP2D6*5 and CYP2D6*xN and the investi-gation of their allelic distributions in ethnic populations can be important in deter-mining the right drug and dosage for each ***:The CYP2D6*5 andCYP2D6 genes,and CYP2D6 gene duplication were identified by 2 modified longPCR,*** determine duplicated alleles,a novel long PCR was devel-oped to amplify the entire duplicated CYP2D6 gene which was used as templatefor subsequent PCR amplification.A total of 363 unrelated Eastern Han Chineseindividuals were analyzed for CYP2D6 gene copy number ***:Thefrequency of CYP2D6*5 and CYP2D6*xN were 4.82%(n=35)and 0.69%(n=5)inthe Eastern Han Chinese population,*** the 5 duplicated alleles,3were CYP2D6*1×Nand 2 were CYP2D6*IO×*** individual was a carrier ofboth CYP2D6*5 and CYP2D6*I×*** together,the CYP2D6 gene rear-rangements were present in 10.74% of ***:Allelic distributionsof the CYP2D6 gene copy number variation differ among Chinese from differentregions,indicating ethnic variety in *** PCR are convenient,costeffective,specific and semiquantitative for the detection of the CYP2D6 genecopy number variation,and amplification of the entire duplicated CYP2D6 gene isnecessary for the accurate identification of duplicated alleles.

关键词： CYP2D6 long PCR deletion duplication copy number variation rearrangement

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Huntingtin processing in pathogenesis of Huntington disease

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Acta Pharmacologica sinica 2004年第10期 3-9页

作者： Zheng-hong QIN, Zhen-lun GUdepartment of Pharmacology, soochow University school of Medicine, suzhou 215 007, china Laboratory of Cellular Neurobiology, department of neurology, Massachusetts General hospital and Harvard Medical school, MA 02129, UsA

Huntington's disease (HD) is caused by an expansion of the polyglutamine tract in the protein named huntingtin. The expansion of polyglutamine tract induces selective degeneration of striatal projection neurons and cortical pyramidal neurons. The bio-hallmark of HD is the formation of intranuclear inclusions and cytoplasmic aggregates in association with other cellular proteins in vulnerable neurons. Accumulation of N-terminal mutant huntingtin in HD brains is prominent. These pathological features are related to protein misfolding and impairments in protein processing and degradation in neurons. This review focused on the role of proteases in huntingtin cleavage and degradation and the contribution of altered processing of mutant huntingtin to HD pathogenesis.

关键词： Huntington disease huntingtin caspase calpain proteasome protein aggregation autophagy neurodegeneration

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Biomarkers of neurodegenerative disorders: How good are they?

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Cell Research 2004年第5期14卷 347-358页

作者： Varun RACHAKONDA department of neurology Baylor College of Medicine Houston TX UsA

Biomarkers are very important indicators of normal and abnormal biological processes. specific changes in pathologies, biochemistries and genetics can give us comprehensive information regarding the nature of any particular disease. A good biomarker should be precise and reliable, distinguishable between normal and interested disease, and differential between different diseases. It is believed that biomarkers have great potential in predicting chances for diseases, aiding in early diagnosis, and setting standards for the development of new remedies to treat diseases. New technologies have enabled scientists to identify biomarkers of several different neurodegenerative diseases. The followings, for instance, are only a few of the many new biomarkers that have been recently identified: the phosphorylated tau protein and aggregated β-amyloid peptide for Alzheimer’s disease (AD), α-synuclein contained Lewy bodies and altered dopamine transporter (DAT) imaging for Parkinson’s disease (PD), sOD mutations for familial amyotrophic lateral sclerosis (ALs), and CAG repeats resulted from Huntington’s gene mutations in Huntington’s disease (HD). This article will focus on the most-recent findings of biomarkers belonging to the four mentioned neurodegenerative diseases.

关键词： Alzheimer’s disease Parkinson’s disease Amyotrophic Lateral sclerosis Huntington’s disease biomarkers.

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BAG5 interacts with the Parkinson-associated protein PINKl to protect against oxidative mitochondrial damage

BAG5 interacts with the Parkinson-associated protein PINKl t...

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中国神经科学学会第九届全国学术会议暨第五次会员代表大会

作者： Xue-Jing WANG~1,Ji-Feng GUO~1,Guang-Hui WANG~2,Bei-sha TANG~(1,3,*) 1 department of neurology,Xiangya hospital,Central south University,changsha,china 2 department of Neurobiology,Laboratory of Molecular Neuropathology,school of Life sciences,University of science and Technology of china,Heifei,china 3 National Laboratory of Medical Genetics,Xiangya hospital,Central south University,changsha,china

＜正＞Mutations in PTEN-induced kinase 1（PINK1） gene cause PARK6 familial Parkinsonism,and loss the stability of PINK1 may also contribute to sporadic Parkinson’s disease（PD）.Degradation of PINK1 occurs predominantly through the ubiquitin-proteasome pathway,however,to date,few of the proteins have been found to regulate the degradation of *** the yeast two-hybrid system and pull-down methods,we identified bcl- 2-associated athanogene 5（BAG5）,a BAG family member,directly interacted with *** showed that BAG5 stabilized PINK1 by decreasing the ubiquitination of ***,BAG5 rescued MPP+- and rotenoneinduced mitochondria dysfunction by up-regulating PINK1 in *** PINK1-null mice and MPTP-treated mice, significantly increased in the substantia nigra pars compacta（sNpc） although PINK1 was ***, rasagiline treatment to MPTP-treated mice resulted in further increase of BAG5 *** summary,we present BAG5 as a key protein to stabilize PINK1,thereby proventing mitochondrial dysfunction following oxidative stress.

关键词： Parkinson’s disease BAG5 PINKl mitochondrial dysfunction UPs

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Wnt3a signaling promotes proliferation,myogenic differentiation,and migration of rat bone marrow mesenchymal stem cells

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Acta Pharmacologica sinica 2007年第11期28卷 1761-1774页

作者： Yan-chang sHANG~(2,3),shu-hui WANG~4,Fu XIONG~5,Cui-ping ZHAO~2,Fu-ning PENG~2,shan-wei FENG~2,Mei-shan LI~2,YongLI~5,Cheng ZHANG~(2,5,6)~2 department of neurology First Affiliated hospital,sun Yat-sen University,Guangzhou 510080,china,~3 department of Geriatric neurologyChinese People's Liberation Army General hospital,Beijing 100853,china ~4 department of neurology,Beijing Friendship hospital,CapitalMedical University,Beijing 100050,china,~5 Center for stem Cell Biology and Tissue Engineering,sun Yat-sen University Guangzhou510080.china ment of neurology First Affiliated Hospital Sun Yat-sen University Guangzhou 510080China. zhangch6@***.

Aim:To investigate the effects of the wingless-related MMTV integration site 3A(Wnt3a) signaling on the proliferation,migration,and the myogenic and adipogenicdifferentiation of rat bone marrow mesenchymal stem cells (rMsC).Methods:Primary MsC were isolated and cultured from sprague-Dawley rats and character-ized by flow *** L cells were transfected with Wnt3a cDNA,andconditioned media containing active Wnt3a proteins were *** prolif-eration was evaluated by cell count and 5-bromodeoxyuridine incorporation *** migration of rMsC was performed by using a transwell migration and woundhealing *** myogenic and adipogenic differentiation in rMsC were exam-ined by light microscopy,immunofluorescence,and RT-PCR at different timepoints after myogenic or adipogenic ***:Wnt3a signaling in-duced β-catenin nuclear translocation and activated the Wnt pathway in *** the presence of Wnt3a,rMsC proliferated more rapidly than the control cells,keeping their differentiation ***,Wnt3a signaling induced 2.62%and 3.76% of rMsC-expressed desmin and myosin heavy chain after being cul-tured in myogenic *** myogenic differentiation genes,including Pax7,MyoD,Myf5,Myf4,and myogenin,were activated after Wnt3a *** theother hand,Wnt3a inhibited the adipogenic differentiation in rMsC through thedownregulated expression of CCAAT/enhancer-binding protein alpha (C/EBPalpha)and peroxisome proliferator-activated receptor gamma (PPARgamma).Furthermore,Wnt3a promoted the migration capacity of ***:The results indi-cate that Wnt3a signaling can induce myogenic differentiation in ***3asignaling is also involved in the regulation of the proliferation and migration *** results could provide a rational foundation for cell-based tissuerepair in humans.

关键词： Wingless-related MMTV integration site (Wnt) mesenchymal stem cells myogenic differentiation adipogenic differentiation proliferation migration

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mtDNA3243 mutation associated with maternally inherited mitochondrial enteromyopathy - a case report

mtDNA3243 mutation associated with maternally inherited mito...

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第五届亚太地区新生儿筛查学术交流会

作者： FANG Fang Li-ping ZOU Yu QI et al. department of neurology Beijing children ’s hospital Affiliatedto Captial University of Medical sciences 100045 china Central Lab Peking University First hospital Beijing 100034 china

＜正＞Objective To describe a case of maternally inherited mitochondrial disease presenting with marked gastrointestinal symptoms and mild myopathy without involvement of central nerve system as to investigating the d...

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Early complications after excision with hepaticoenterostomy for infants and children with choledochal cysts

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Hepatobiliary & Pancreatic Diseases International 2002年第2期1卷 281-284页

作者： Min-Ju Li Jie-Xiong Feng Qi-Fei Jin From the department of Pediatric surgery, children’s hospital, Zhejiang University school of Medicine, Hangzhou 310003, china department of Pediatric surgery Children's Hospital Zhejiang University School of Medicine Hangzhou 310003 China. minjuli@***

Objective: To retrospectively study the early compli- cations of excision with hepaticoenterostomy for in- fants and children with choledochal cysts. Methods: We analyzed 16 patients with early posto- perative complications out of 173 patients with con- genital choledochal cysts aged 27 days to 14 years (mean 2.4 years) who had undergone excisional pro- cedures and biliary tract reconstruction. Results: The early complications included bile leak- age (10 patients), abdominal wall dehiscence (3), and hepatic failure, pancreatic juice leakage and postoperative intussusception (each in 1) respective- ly. Three patients died from bile leakage and 1 from postoperative hepatic failure. No statistical differen- ces were observed between the procedures of biliary tract reconstruction with jejunal segment interposi- tion hepaticoduodenostomy and Roux-en-Y hepatico- jejunostomy (P>0.75). The morbidity was signifi- cantly higher in infants below 1 year than in children (Ps were discussed. Conclusion: Bile leakage and abdominal wall dehis- cence are major early postoperative complications. The morbidity of cholechal cysts is higher in infants than in children. Exploratory laparotomy should not be delayed when biliary leakage with diffuse peritoni- tis appears. The 'tension suture in the fascial space of the abdominal wall' is useful to prevent and treat wound dehiscence.

关键词： choledochal cyst postoperative complication infants children

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100例儿童声嘶成因分析及预防

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实用预防医学 2004年第2期11卷 345-346页

作者：赵斯君湖南省儿童医院中国湖南长沙410007

目的　了解我省小儿声音嘶哑的发病原因和儿童声嘶的特点。　方法　对 10 0例小儿声音嘶哑的临床资料进行分析。　结果　声带小结是小儿声嘶的主要原因及主要病变。　结论　对儿童声带病不应只限于治疗 ,更在于防范 ,纠正发音方法治疗。

关键词：儿童声嘶声带小结发病率

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A novel PLA2G6 gene mutation causes autosomal recessive early-onset parkinsonism with typical clinical phenotype of Parkinson’s disease

A novel PLA2G6 gene mutation causes autosomal recessive earl...

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中国神经科学学会第九届全国学术会议暨第五次会员代表大会

作者： Ji-Feng GUO~(1,3),Chang-He sHI~1,Lei WANG~1,Zhan-Yun LV~1,Jian WANG~4,Lin-Zi LUO~1,Lu sHEN~(1,3),Hong JIANG~(1,3),Xin-Xiang YAN~(1,3),Qian PAN~2,Kun XIA~2,Bei-sha TANG~(1,2,3,*) 1 department of neurology,Xiangya hospital,Central south University,changsha 410008,china 2 National Laboratory of Medical Genetics of china,changsha 410008,china 3 Neurodegenerative Disorders Research Center,Central south University,changsha 410008,china 4 department of neurology,Huashan hospital,Fudan University,shanghai 200040,china

＜正＞Objective Mutations in the PLA2G6 gene at the PARK14 locus have been reported in complicated parkinsonism *** assess the prevalence of and phenotypes associated with PLA2G6 gene mutations,we screened PLA2G6 mutations in a cohort of patients with autosomal recessive early-onset parkinsonism（AREP）. Methods We selected 12 families with AREP in which the Parkin,PINK1,DJ-1,ATP13A2,and FBX07 gene mutations had been previously *** patients came from the mainland of *** entire PLA2G6 coding region and exon-intron boundaries were sequenced from genomic DNA *** then performed PET studies on individuals in the pedigree with a homozygous PLA2G6 mutation,and investigated the enzyme activity level of the *** A homozygous missense mutation,C.G991T（p.D331Y） was identified in an autosomal recessive case.A younger sister of the p.D331Y-carrying patient was also homozygous for the mutation,but was with no extrapyramidal symptoms.A PET study showed a substantial reduction in dopamine transporter（DAT） binding in the p.D331Y patient,and a slight reduction in DAT binding in his *** vitro,we experimentally demonstrate that the D331Y mutation caused an approximately 70%reduction in enzyme *** We have confirmed that the PLA2G6 gene allocated PARK14 locus and is associated with AREP.

关键词： PLA2G6 PARK14 PET AREP

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Portal vein thrombosis

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Hepatobiliary & Pancreatic Diseases International 2005年第4期4卷 515-518页

作者： Jing-Tong Wang, Hui-Ying Zhao and Yu-Lan Liu Beijing, china department of Gastroenterology, People’ s hospital, Beijing University, Beijing 100044 , china department of Gastroenterology People's Hospital Beijing University Beijing 100044 China. jingtongw@***

BACKGROUND: Most physicians in china may neglect portal vein thrombosis(PVT) in clinical practice. In fact, portal vein thrombosis is an important cause of non-cir-rhotic portal hypertension. As the diversity of its clinical manifestations, misdiagnosis is common if we don t bear PVT in mind during differential diagnosis. Therefore, we systematically reviewed PVT in terms of etiology, patho-physiology, pathology, clinical manifestations, and management. DATA sOURCEs: An English-language literature search (from 1980 to 2004 ) was performed using Medline and Medscape, and articles closely related to PVT were selected. REsULTs: PVT is the second cause of portal hypertension after liver cirrhosis in western countries. Liver cirrhosis and hepatocellular carcinoma, ultra-abdominal infection, thrombophilic disorders including myeloproliferative diseases are strongly associated with the development of PVT. Liver transplantation is an emerging etiological factor of PVT with the development and wide use of this technique. Gastrointestinal bleeding resulted from esophageal varices, abdominal pain, splenomegaly and hypersplenism and asci-tes are common manifestations of PVT. However there are differences in etiological and clinical presentations between children and adults. Diagnosis of PVT depends on ima-ging-studies including Doppler ultrasonography, computed tomography ( CT), magnetic resonance imaging ( MRI), and portography. Endoscopic therapy is recommended for variceal bleeding in PVT. Anticoagulant treatment for acute PVT is widely accepted in western countries. CONCLUsIONs: PVT may be unrecognized as the clinical manifestations are unspecific. Misdiagnosis and delayed treatment can lead to poor prognosis. systematical collection of epidemiological and clinical data about PVT is necessary in china.

关键词： portal vein thrombosis

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