Genomic medicine最新文献_第10页

Evidence of EGR1 as a differentially expressed gene among proliferative skin diseases. EGR1在增生性皮肤病中作为差异表达基因的证据

Genomic medicine Pub Date : 2007-01-01 Epub Date: 2007-07-25 DOI: 10.1007/s11568-007-9010-9

Min Fang, Sue Ann Wee, Karyn Ronski, Hongran Fan, Shiying Tao, Qun Lin

引用次数: 17

Peripheral blood gene expression profiling for cardiovascular disease assessment. 外周血基因表达谱用于心血管疾病评估。

Genomic medicine Pub Date : 2007-01-01 Epub Date: 2008-02-27 DOI: 10.1007/s11568-008-9017-x

Hamza Aziz, Aimee Zaas, Geoffrey S Ginsburg

引用次数: 97

Analysis of R213R and 13494 g-->a polymorphisms of the p53 gene in individuals with esophagitis, intestinal metaplasia of the cardia and Barrett's Esophagus compared with a control group. 食管炎、贲门肠化生和Barrett食管患者中p53基因R213R和13494 g- >a多态性与对照组比较

Genomic medicine Pub Date : 2007-01-01 Epub Date: 2007-05-25 DOI: 10.1007/s11568-007-9007-4

Diogo André Pilger, Patrícia Luciana da Costa Lopez, Fábio Segal, Sandra Leistner-Segal

{"title":"Analysis of R213R and 13494 g-->a polymorphisms of the p53 gene in individuals with esophagitis, intestinal metaplasia of the cardia and Barrett's Esophagus compared with a control group.","authors":"Diogo André Pilger, Patrícia Luciana da Costa Lopez, Fábio Segal, Sandra Leistner-Segal","doi":"10.1007/s11568-007-9007-4","DOIUrl":"https://doi.org/10.1007/s11568-007-9007-4","url":null,"abstract":"Protein p53 is the tumor suppressor involved in cell cycle control and apoptosis. There are several polymorphisms reported for p53 which can affect important regions involved in protein tumor suppressor activity. Amongst the polymorphisms described, R213R and 13949 g-->a are rarely studied, with an estimate frequency not yet available for the Brazilian population. The purpose of this study was to investigate the genotype and allele frequencies and associations of these polymorphisms in a group of patients with altered esophageal tissue from South Brazil and compare with the frequency observed for a control population. A total of 35 patients for R213R and 45 for 13494 g-->a polymorphisms analysis with gastroesophageal reflux disease (GERD) symptoms diagnosed by upper digestive endoscopy and confirmed by biopsy were studied. For both groups, 100 controls were used for comparison. Loss of heterozygosity (LOH) was also analyzed for a selected group of patients where normal and affected tissue was available. There was one patient with Barrett's Esophagus (BE) showing LOH for R213R out of two heterozygous samples analyzed and two patients (esophagitis and BE) for 13494 g-->a polymorphism. We also aimed to build a haplotype for both polymorphisms collectively analyzed with R27P polymorphism, previously reported by our group. There were no significant differences in allele and genotype distribution between patients and controls. Although using esophagitis, intestinal metaplasia of the cardia and BE samples, all non-neoplastic lesions, we can conclude that these sites do not represent genetic susceptibility markers for the development and early progression of GERD to BE and esophageal cancer. Additional studies are required in order to investigate other determiners of early premalignant lesions known to predispose to esophageal cancer.","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":"1 1-2","pages":"57-63"},"PeriodicalIF":0.0,"publicationDate":"2007-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-007-9007-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27794883","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 13

Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis. 严重智力迟钝和幼年特发性关节炎患者两种独立核型异常的分子细胞遗传学特征。

Genomic medicine Pub Date : 2007-01-01 Epub Date: 2007-07-11 DOI: 10.1007/s11568-007-9008-3

Sabine Leybrand, Eva Rossier, Gotthold Barbi, David N Cooper, Hildegard Kehrer-Sawatzki

{"title":"Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis.","authors":"Sabine Leybrand, Eva Rossier, Gotthold Barbi, David N Cooper, Hildegard Kehrer-Sawatzki","doi":"10.1007/s11568-007-9008-3","DOIUrl":"https://doi.org/10.1007/s11568-007-9008-3","url":null,"abstract":"We report on a patient with severe mental retardation, dysmorphic features as well as juvenile idiopathic arthritis. G-banding indicated two independent karyotypic anomalies in this patient: an interstitial deletion del(X)(p21p22.3) and a rearrangement involving chromosomes 1 and 7, which represents a direct insertion, ins(7;1)(q36;p13.2p31.2). Non-random inactivation of the paternally derived del(X) chromosome was observed in blood lymphocytes and fibroblasts. High resolution analysis of the rearrangement involving chromosomes 1 and 7 subsequently revealed the additional submicroscopic deletion of at least 5 Mb at the 1p13.2 breakpoint. The deletion occurred on the paternal chromosome and encompasses the PTPN22 gene, already known to be associated with juvenile idiopathic arthritis. Our findings underline the importance of closely investigating the breakpoint regions of apparently balanced rearrangements in patients with abnormal phenotypes since complex chromosomal rearrangements (CCRs) may turn out to be unbalanced.","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":"1 1-2","pages":"65-73"},"PeriodicalIF":0.0,"publicationDate":"2007-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-007-9008-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27794210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genome mirror-2006. 基因组的镜子- 2006。

Genomic medicine Pub Date : 2007-01-01 Epub Date: 2007-04-24 DOI: 10.1007/s11568-007-9001-x

Dhavendra Kumar

引用次数: 1

Why should genomic medicine become more evidence-based? 基因组医学为何要更加循证？

Genomic medicine Pub Date : 2007-01-01 Epub Date: 2007-12-25 DOI: 10.1007/s11568-007-9015-4

Muin J Khoury, Linda A Bradley

引用次数: 0

Genomic Medicine: A Practical Guide 基因组医学:实用指南

Genomic medicine Pub Date : 1900-01-01 DOI: 10.1007/978-3-030-22922-1

M. Arcila

引用次数: 5