Gene Function & Disease最新文献

Guest Editorial: From man to mice – from mice to man 客座评论:从人到老鼠——从老鼠到人

Gene Function & Disease Pub Date : 2003-02-03 DOI: 10.1002/gnfd.200290006

Andreas Lengeling

引用次数: 0

Editorial: Gene Funct. Dis. 1-2/2002 编辑:Gene Funct。分离1-2/2002

Gene Function & Disease Pub Date : 2003-02-03 DOI: 10.1002/1438-826X(200210)3:1/2<7::AID-GNFD7>3.0.CO;2-%23

Dietmar Schomburg

引用次数: 0

Analysis of Smoothened as a candidate gene for human holoprosencephaly Smoothened作为人前脑全裂症候选基因的分析

Gene Function & Disease Pub Date : 2003-01-16 DOI: 10.1002/gnfd.200290004

Jeffrey E. Ming, Bennie Jeng, Frederic J. deSauvage, Maximilian Muenke

引用次数: 2

Single Nucleotide Polymorphism analysis of the human adenosine A2B receptor gene: prevalence of SNPs in asthmatics and normal subjects 人腺苷A2B受体基因的单核苷酸多态性分析:哮喘患者和正常人的snp患病率

Gene Function & Disease Pub Date : 2003-01-16 DOI: 10.1002/gnfd.200290003

Gino van Heeke, Rachael Seamons, Jean-Yves Metais, John R. Fozard, Stephen Goff, Amanda Wheatley, Jane Dewar, Ian P. Hall

{"title":"Single Nucleotide Polymorphism analysis of the human adenosine A2B receptor gene: prevalence of SNPs in asthmatics and normal subjects","authors":"Gino van Heeke, Rachael Seamons, Jean-Yves Metais, John R. Fozard, Stephen Goff, Amanda Wheatley, Jane Dewar, Ian P. Hall","doi":"10.1002/gnfd.200290003","DOIUrl":"10.1002/gnfd.200290003","url":null,"abstract":"The adenosine A2B receptor is found on human lung mast cells and is believed to mediate the bronchoconstriction in response to adenosine characteristic of asthmatics. As such it represents an attractive therapeutic target for asthma and allergic rhinitis. As genetic variability in drug targets may affect an individual's response to treatment, the adenosine A2B receptor gene was analyzed for polymorphisms and their prevalence defined in a Caucasian population. The coding region of the A2B receptor gene as well as the intron-exon boundaries of the gene were found to be free of genetic variation. Three single nucleotide polymorphisms were identified in the promoter region of the gene, one of which created a BamHI restriction fragment length polymorphism. The prevalence of the three single nucleotide polymorphisms in an unselected population was <5%. The prevalence of the BamHI polymorphism was investigated in a British population of 40 asthmatics and 40 non-asthmatics: no excess of the BamHI variant was observed in asthmatic subjects. The data indicates that any variability in drug response would likely not be due to direct structural variation of the A2B receptor protein. Further, polymorphism at the A2B receptor genomic locus is unlikely to contribute to the population risk of developing asthma.","PeriodicalId":100573,"journal":{"name":"Gene Function & Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2003-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/gnfd.200290003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84849880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Cell adhesion and matrix remodeling genes identified by co-expression analysis 通过共表达分析鉴定细胞粘附和基质重塑基因

Gene Function & Disease Pub Date : 2003-01-16 DOI: 10.1002/gnfd.200290000

Michael G. Walker, Wayne Volkmuth

{"title":"Cell adhesion and matrix remodeling genes identified by co-expression analysis","authors":"Michael G. Walker, Wayne Volkmuth","doi":"10.1002/gnfd.200290000","DOIUrl":"10.1002/gnfd.200290000","url":null,"abstract":"Cell adhesion and matrix remodeling are elements in many diseases, ranging from atherosclerosis and fibrosis to metastatic cancer. However, many genes that participate in these processes have not yet been identified. To find such genes, we looked for previously uncharacterized genes that are co-expressed with known cell adhesion and matrix remodeling genes. The known genes in this study included MMP2, TIMP3, BM-40, chondroitin, connective tissue growth factor, fibromodulin, IGFBP5, laminin, MGP, myosin light chain kinase, several collagens, and other matrix and adhesion proteins. We found eight previously uncharacterized genes, here named MXRA1 through MXRA8, that were strongly co-expressed with these known adhesion and matrix genes. Five of the MXRA genes have a significant similarity to uncharacterized cDNA sequences or predicted proteins listed in the Genbank database, but otherwise show distant or no sequence similarity to genes with known function. Subsequent to our entry of the MXRA gene sequences in the Genbank, three of the eight genes have been independently described by other researchers: MXRA2 is α-parvin, a cell-matrix adhesion protein, MXRA4 is a C1 complement component receptor involved in cell adhesion, and MXRA5 is adlican, an adhesion proteoglycan. The analysis described here provides further evidence for the role of these genes in adhesion and matrix remodeling.","PeriodicalId":100573,"journal":{"name":"Gene Function & Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2003-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/gnfd.200290000","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84404759","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 27

A set of genes activated in differentiating smooth muscle is also activated in smooth muscle from injured arteries or atherosclerotic lesions 在平滑肌分化过程中激活的一组基因在平滑肌与受损动脉或动脉粥样硬化病变中也被激活

Gene Function & Disease Pub Date : 2003-01-16 DOI: 10.1002/gnfd.200290002

Edward S. Moon Jenna Lynn Ray, Rebecca L. Leach, Mark R. Benson

引用次数: 1

Quantitation of inflammatory und proliferative genes as disease markers in laser-microdissected, formalin-fixed and paraffinized glomeruli from human renal biopsies 激光显微解剖、福尔马林固定和石蜡化肾小球中炎症和增殖基因作为疾病标志物的定量研究

Gene Function & Disease Pub Date : 2003-01-16 DOI: 10.1002/gnfd.200290005

Jochen Walter Ulrich Fries, Alexandra Pakula, Tanja Roth, Hans-Peter Dienes, Margarete Odenthal

{"title":"Quantitation of inflammatory und proliferative genes as disease markers in laser-microdissected, formalin-fixed and paraffinized glomeruli from human renal biopsies","authors":"Jochen Walter Ulrich Fries, Alexandra Pakula, Tanja Roth, Hans-Peter Dienes, Margarete Odenthal","doi":"10.1002/gnfd.200290005","DOIUrl":"10.1002/gnfd.200290005","url":null,"abstract":"Organ biopsies from kidney, liver, intestine or heart are presently only evaluated for pathologic lesions using formalin-fixation and paraffin-embedding. Changes in pattern and levels of gene expression underlying and preceding these lesions have been disregarded, since a quantitative assay system using minute paraffinized tissue samples with minimal amounts of RNA is currently unavailable. This paper describes such an assay using formalin-fixed, paraffinized biopsies from human glomeruli after laser-microdissection. Choosing proliferative glomerular lesions expected to express platelet-derived growth factor-β receptor (PDGF-βR), we investigated whether vascular cell adhesion molecule-1 (VCAM-1), a marker of the inflammatory signal pathway, was coexpressed, indicating the potential to progress an already existing lesion. RNA extraction procedures including DNAse pretreatment were pretested on microdissected mouse glomeruli. β-actin, not upregulated in cell culture by TNF (tumor necrosis factor) or PDGF stimulation, served as housekeeping gene. By qualitative real-time (RT)-PCR, transcription of both genes was detectable using only one microdissected glomerular section. Quantitative PCR for VCAM-1 revealed unsuspected increased levels in the same cases positive by qualitative RT-PCR, not detectable by morphologic analysis or immunohistochemistry. Thus, quantitative gene expression analysis is possible in paraffinized biopsies from minute tissue samples and will provide such important information as unexpected gene expression causing a potential progression of an existing lesions.","PeriodicalId":100573,"journal":{"name":"Gene Function & Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2003-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/gnfd.200290005","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78506898","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Structural variation in a novel zinc finger protein and investigation of its role in Hirschsprung disease 一种新型锌指蛋白的结构变异及其在巨结肠疾病中的作用研究

Gene Function & Disease Pub Date : 2003-01-16 DOI: 10.1002/gnfd.200290001

Scott D. Andrew, Michael J. Kuiper, Michael A. Wride, Fiona C. Mansergh, Derrick E. Rancourt, Lois M. Mulligan

{"title":"Structural variation in a novel zinc finger protein and investigation of its role in Hirschsprung disease","authors":"Scott D. Andrew, Michael J. Kuiper, Michael A. Wride, Fiona C. Mansergh, Derrick E. Rancourt, Lois M. Mulligan","doi":"10.1002/gnfd.200290001","DOIUrl":"10.1002/gnfd.200290001","url":null,"abstract":"Zinc finger transcription factors play essential roles in neural crest cell development. Even subtle disruptions of the function of these genes could contribute significantly to complex developmental phenotypes such as the multigenic disorder Hirschsprung disease (HSCR), a congenital failure of enteric neurogenesis. Although germline mutations in the RET proto-oncogene are the most common cause of familial disease, at least 8 genes including transcription factors have been implicated in sporadic HSCR to date. Thus, a further group of candidate genes are those involved in regulating expression of known HSCR genes. In this study, we have characterized the ZNF358 zinc finger gene, a human orthologue of the mouse gene zfend, which is expressed in early developmental stages in the gut and in the neural folds at the time of neural crest differentiation. ZNF358 represents a putative transcription factor with DNA binding activity confered by 9 Cys2His2 zinc fingers. Although we did not detect disease associated mutations in a panel of HSCR patients, we did identify a novel variable sequence within the coding region of ZNF358 that would result in a deletion of nine amino acids from a polyalanine domain. Our molecular model suggests that this variant could alter protein tertiary structure and the ability of ZNF358 to regulate transcription. Together, our data suggest that, while ZNF358 may be involved in the regulation of genes such as those necessary for development or differentiation of neural crest cells, it does not play an obvious role in HSCR.","PeriodicalId":100573,"journal":{"name":"Gene Function & Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2003-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/gnfd.200290001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80423518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 4

“Plug and Play”-expression systems for high-quality production of recombinant proteins for structural analysis “即插即用”表达系统，用于结构分析的高质量重组蛋白生产

Gene Function & Disease Pub Date : 2002-10-15 DOI: 10.1002/1438-826X(200210)3:1/2<33::AID-GNFD33>3.0.CO;2-5

Joop van den Heuvel, Dirk W. Heinz

引用次数: 1

Modeling regulatory pathways with the use of the TRANSFAC system 使用TRANSFAC系统对调控途径进行建模

Gene Function & Disease Pub Date : 2002-10-15 DOI: 10.1002/1438-826X(200210)3:1/2<9::AID-GNFD9>3.0.CO;2-S

Edgar Wingender

引用次数: 2