Please use this identifier to cite or link to this item:
https://hdl.handle.net/10316/109926
DC Field | Value | Language |
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dc.contributor.author | Crespo, Inês | - |
dc.contributor.author | Tão, Hermínio | - |
dc.contributor.author | Nieto, Ana Belen | - |
dc.contributor.author | Rebelo, Olinda | - |
dc.contributor.author | Domingues, Patrícia | - |
dc.contributor.author | Vital, Ana Luísa | - |
dc.contributor.author | Patino, Maria del Carmen | - |
dc.contributor.author | Barbosa, Marcos | - |
dc.contributor.author | Lopes, M. C. | - |
dc.contributor.author | Oliveira, C. R. | - |
dc.contributor.author | Orfão, Alberto | - |
dc.contributor.author | Tabernero, María Dolores | - |
dc.date.accessioned | 2023-11-07T11:10:18Z | - |
dc.date.available | 2023-11-07T11:10:18Z | - |
dc.date.issued | 2012 | - |
dc.identifier.issn | 1932-6203 | pt |
dc.identifier.uri | http://hdl.handle.net/10316/109926 | - |
dc.description.abstract | Background: Glioblastoma multiforme (GBM) displays multiple amplicons and homozygous deletions that involve relevant pathogenic genes and other genes whose role remains unknown. Methodology: Single-nucleotide polymorphism (SNP)-arrays were used to determine the frequency of recurrent amplicons and homozygous deletions in GBM (n = 46), and to evaluate the impact of copy number alterations (CNA) on mRNA levels of the genes involved. Principal Findings: Recurrent amplicons were detected for chromosomes 7 (50%), 12 (22%), 1 (11%), 4 (9%), 11 (4%), and 17 (4%), whereas homozygous deletions involved chromosomes 9p21 (52%) and 10q (22%). Most genes that displayed a high correlation between DNA CNA and mRNA levels were coded in the amplified chromosomes. For some amplicons the impact of DNA CNA on mRNA expression was restricted to a single gene (e.g., EGFR at 7p11.2), while for others it involved multiple genes (e.g., 11 and 5 genes at 12q14.1–q15 and 4q12, respectively). Despite homozygous del(9p21) and del(10q23.31) included multiple genes, association between these DNA CNA and RNA expression was restricted to the MTAP gene. Conclusions: Overall, our results showed a high frequency of amplicons and homozygous deletions in GBM with variable impact on the expression of the genes involved, and they contributed to the identification of other potentially relevant genes. | pt |
dc.language.iso | eng | pt |
dc.publisher | Public Library of Science | pt |
dc.relation | FCT PIC/IC/83108/2007 | pt |
dc.relation | SFRH/BD/23086/2005 | pt |
dc.relation | SFRH/BD/11820/2003 | pt |
dc.relation | Fundación Mutua Madrileña, Madrid, Spain [AP87692011 | pt |
dc.relation | Instituto de Salud Carlos III, Ministerio de Ciencia e Innovacio´ n, Madrid, Spain [RTICC RD06/0020/0035 | pt |
dc.rights | openAccess | pt |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | pt |
dc.title | Amplified and Homozygously Deleted Genes in Glioblastoma: Impact on Gene Expression Levels | pt |
dc.type | article | - |
degois.publication.firstPage | e46088 | pt |
degois.publication.issue | 9 | pt |
degois.publication.title | PLoS ONE | pt |
dc.peerreviewed | yes | pt |
dc.identifier.doi | 10.1371/journal.pone.0046088 | pt |
degois.publication.volume | 7 | pt |
dc.date.embargo | 2012-01-01 | * |
uc.date.periodoEmbargo | 0 | pt |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.grantfulltext | open | - |
item.openairetype | article | - |
item.languageiso639-1 | en | - |
item.fulltext | Com Texto completo | - |
item.cerifentitytype | Publications | - |
crisitem.author.researchunit | CNC - Center for Neuroscience and Cell Biology | - |
crisitem.author.orcid | 0000-0002-6469-0894 | - |
crisitem.author.orcid | 0000-0001-6942-4328 | - |
Appears in Collections: | FMUC Medicina - Artigos em Revistas Internacionais FFUC- Artigos em Revistas Internacionais I&D CNC - Artigos em Revistas Internacionais |
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File | Description | Size | Format | |
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Amplified-and-Homozygously-Deleted-Genes-in-Glioblastoma-Impact-on-Gene-Expression-LevelsPLoS-ONE.pdf | 1.08 MB | Adobe PDF | View/Open |
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