Genomic medicinePub Date : 2007-01-01Epub Date: 2007-07-25DOI: 10.1007/s11568-007-9010-9
Min Fang, Sue Ann Wee, Karyn Ronski, Hongran Fan, Shiying Tao, Qun Lin
{"title":"Evidence of EGR1 as a differentially expressed gene among proliferative skin diseases.","authors":"Min Fang, Sue Ann Wee, Karyn Ronski, Hongran Fan, Shiying Tao, Qun Lin","doi":"10.1007/s11568-007-9010-9","DOIUrl":"https://doi.org/10.1007/s11568-007-9010-9","url":null,"abstract":"<p><p>Hyperproliferative epidermal disorders range from benign hyperplasias such as psoriasis to basal cell carcinoma (BCC) and squamous cell carcinoma (SCC), the two most common cancers in the US. While they all arise from the epidermis, these diseases differ dramatically in biological behavior and their underlying gene expression patterns have not been compared. We thus examined mRNA transcript levels in these disorders to identify and further characterize differentially expressed genes. Transcript expression patterns distinguish these disorders and identify EGR1, among other genes, whose epidermal expression is decreased in BCC and SCC but is elevated in psoriasis. Egr-1 inhibits growth of benign and malignant epidermal cells in vitro and appears to suppress both Cdc25A expression and Cdk2 dephosphorylation. These data indicate that gene expression profiling can differentiate epidermal hyperproliferative diseases and suggest that Egr-1 may play a role in preventing uncontrolled epidermal growth.</p>","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2007-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-007-9010-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27794211","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}
Genomic medicinePub Date : 2007-01-01Epub Date: 2008-02-27DOI: 10.1007/s11568-008-9017-x
Hamza Aziz, Aimee Zaas, Geoffrey S Ginsburg
{"title":"Peripheral blood gene expression profiling for cardiovascular disease assessment.","authors":"Hamza Aziz, Aimee Zaas, Geoffrey S Ginsburg","doi":"10.1007/s11568-008-9017-x","DOIUrl":"https://doi.org/10.1007/s11568-008-9017-x","url":null,"abstract":"<p><p>Whole blood gene expression profiling has the potential to be informative about dynamic changes in disease states and to provide information on underlying disease mechanisms. Having demonstrated proof of concept in animal models, a number of studies have now tried to tackle the complexity of cardiovascular disease in human hosts to develop better diagnostic and prognostic indicators. These studies show that genomic signatures are capable of classifying patients with cardiovascular diseases into finer categories based on the molecular architecture of a patient's disease and more accurately predict the likelihood of a cardiovascular event than current techniques. To highlight the spectrum of potential applications of whole blood gene expression profiling approach in cardiovascular science, we have chosen to review the findings in a number of complex cardiovascular diseases such as atherosclerosis, hypertension and myocardial infarction as well as thromboembolism, aortic aneurysm, and heart transplant.</p>","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2007-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-008-9017-x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27794215","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}
Genomic medicinePub Date : 2007-01-01Epub Date: 2007-05-25DOI: 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":"<p><p>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.</p>","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"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}
Genomic medicinePub Date : 2007-01-01Epub Date: 2007-07-11DOI: 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":"<p><p>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.</p>","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"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}
Genomic medicinePub Date : 2007-01-01Epub Date: 2007-12-25DOI: 10.1007/s11568-007-9015-4
Muin J Khoury, Linda A Bradley
{"title":"Why should genomic medicine become more evidence-based?","authors":"Muin J Khoury, Linda A Bradley","doi":"10.1007/s11568-007-9015-4","DOIUrl":"10.1007/s11568-007-9015-4","url":null,"abstract":"","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2007-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2269033/pdf/11568_2007_Article_9015.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27794213","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}