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https://observatorio.fm.usp.br/handle/OPI/2079Full metadata record
| DC Field | Value | Language |
|---|---|---|
| dc.contributor | Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP | - |
| dc.contributor.author | TORRES, Leuridan Cavalcante | - |
| dc.contributor.author | KULIKOWSKI, Leslie Domenici | - |
| dc.contributor.author | RAMOS, Patricia Locosque | - |
| dc.contributor.author | SUGAYAMA, Sofia Mizuko Miura | - |
| dc.contributor.author | MOREIRA-FILHO, Carlos Alberto | - |
| dc.contributor.author | CARNEIRO-SAMPAIO, Magda | - |
| dc.date.accessioned | 2013-09-23T16:43:05Z | - |
| dc.date.available | 2013-09-23T16:43:05Z | - |
| dc.date.issued | 2013 | - |
| dc.identifier.citation | HUMAN IMMUNOLOGY, v.74, n.8, p.911-915, 2013 | - |
| dc.identifier.issn | 0198-8859 | - |
| dc.identifier.uri | https://observatorio.fm.usp.br/handle/OPI/2079 | - |
| dc.description.abstract | Genomic aberrations in the CREBBP (CREB-binding protein - CREBBP or CBP) gene such as point mutations, small insertions or exonic copy number changes are usually associated with Rubinstein-Taybi syndrome (RTs). In this study, the disruption of the CREBBP gene on chromosome 16p13.3, as revealed by CGH-array and FISH, suggests immune dysregulation in a patient with the Rubinstein Taybi syndrome (RTs) phenotype. Further investigation with Western blot techniques demonstrated decreased expression of CREB, NP kappa B, c-Jun, c-Fos, BCL2 and cMyc in peripheral blood mononuclear cells, thus indicating that the CREBBP gene is essential for the normal expression of these proteins and the regulation of immune responses. | - |
| dc.description.sponsorship | FAPESP [07/56491-1, 09/53105-9] | - |
| dc.description.sponsorship | Brazilian RTs support group | - |
| dc.language.iso | eng | - |
| dc.publisher | ELSEVIER SCIENCE INC | - |
| dc.relation.ispartof | Human Immunology | - |
| dc.rights | restrictedAccess | - |
| dc.subject.other | rubinstein-taybi-syndrome | - |
| dc.subject.other | binding-protein | - |
| dc.subject.other | transcriptional coactivators | - |
| dc.subject.other | molecular-mechanisms | - |
| dc.subject.other | transgenic mice | - |
| dc.subject.other | cbp | - |
| dc.subject.other | p300 | - |
| dc.subject.other | mutations | - |
| dc.subject.other | ep300 | - |
| dc.subject.other | defects | - |
| dc.title | Disruption of the CREBBP gene and decreased expression of CREB, NF kappa B p65, c-JUN, c-FOS, BCL2 and c-MYC suggest immune dysregulation | - |
| dc.type | article | - |
| dc.rights.holder | Copyright ELSEVIER SCIENCE INC | - |
| dc.identifier.doi | 10.1016/j.humimm.2013.04.024 | - |
| dc.identifier.pmid | 23643710 | - |
| dc.subject.wos | Immunology | - |
| dc.type.category | original article | - |
| dc.type.version | publishedVersion | - |
| hcfmusp.author.external | TORRES, Leuridan Cavalcante:Univ Sao Paulo, Inst Crianca HC FMUSP, Dept Pediat, BR-05403000 Sao Paulo, Brazil | - |
| hcfmusp.description.beginpage | 911 | - |
| hcfmusp.description.endpage | 915 | - |
| hcfmusp.description.issue | 8 | - |
| hcfmusp.description.volume | 74 | - |
| hcfmusp.origem | WOS | - |
| hcfmusp.origem.id | WOS:000321795600003 | - |
| hcfmusp.origem.id | 2-s2.0-84879868131 | - |
| hcfmusp.publisher.city | NEW YORK | - |
| hcfmusp.publisher.country | USA | - |
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| dc.description.index | MEDLINE | - |
| hcfmusp.remissive.sponsorship | FAPESP | - |
| hcfmusp.citation.scopus | 4 | - |
| hcfmusp.scopus.lastupdate | 2022-05-06 | - |
| Appears in Collections: | Artigos e Materiais de Revistas Científicas - FM/MPE Artigos e Materiais de Revistas Científicas - HC/ICr Artigos e Materiais de Revistas Científicas - LIM/03 Artigos e Materiais de Revistas Científicas - LIM/36 | |
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| art_KULIKOWSKI_Disruption_of_the_CREBBP_gene_and_decreased_expression_2013.PDF Restricted Access | publishedVersion (English) | 846.41 kB | Adobe PDF | View/Open Request a copy |
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