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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP-
dc.contributor.authorTORRES, Leuridan Cavalcante-
dc.contributor.authorKULIKOWSKI, Leslie Domenici-
dc.contributor.authorRAMOS, Patricia Locosque-
dc.contributor.authorSUGAYAMA, Sofia Mizuko Miura-
dc.contributor.authorMOREIRA-FILHO, Carlos Alberto-
dc.contributor.authorCARNEIRO-SAMPAIO, Magda-
dc.identifier.citationHUMAN IMMUNOLOGY, v.74, n.8, p.911-915, 2013-
dc.description.abstractGenomic 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.sponsorshipFAPESP [07/56491-1, 09/53105-9]-
dc.description.sponsorshipBrazilian RTs support group-
dc.relation.ispartofHuman Immunology-
dc.subject.othertranscriptional coactivators-
dc.subject.othertransgenic mice-
dc.titleDisruption 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.rights.holderCopyright ELSEVIER SCIENCE INC-
dc.type.categoryoriginal article-
dc.type.versionpublishedVersion-, Leuridan Cavalcante:Univ Sao Paulo, Inst Crianca HC FMUSP, Dept Pediat, BR-05403000 Sao Paulo, Brazil-
hcfmusp.publisher.cityNEW YORK-
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Artigos e Materiais de Revistas Científicas - FM/MPE
Departamento de Pediatria - FM/MPE

Artigos e Materiais de Revistas Científicas - HC/ICr
Instituto da Criança - HC/ICr

Artigos e Materiais de Revistas Científicas - LIM/03
LIM/03 - Laboratório de Medicina Laboratorial

Artigos e Materiais de Revistas Científicas - LIM/36
LIM/36 - Laboratório de Pediatria Clínica

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