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Use este identificador para citar ou linkar para este item: https://ri.ufs.br/jspui/handle/riufs/25511
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dc.contributor.authorKaneto, Carla Martins-
dc.contributor.authorLima, Patricia Santos Pereira-
dc.contributor.authorZanette, Dalila Lucíola-
dc.contributor.authorOliveira, Thiago Yukio Kikuchi-
dc.contributor.authorPereira, Francisco de Assis-
dc.contributor.authorLorenzi, Julio Cesar Cetrulo-
dc.contributor.authorSantos, Jane Lima dos-
dc.contributor.authorPrata, Karen de Lima-
dc.contributor.authorPina Neto, João Monteiro de-
dc.contributor.authorPaula, Francisco José Albuquerque de-
dc.contributor.authorSilva Junior, Wilson Araújo da-
dc.date.accessioned2026-07-10T18:28:16Z-
dc.date.available2026-07-10T18:28:16Z-
dc.date.issued2016-
dc.identifier.citationKANETO, C. M. et al. Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome. BMC Medical Genetics, London, v. 17, n. 38, 2016. Disponível em: https://link.springer.com/article/10.1186/s12881-016-0301-7. Acesso em: 10 jul. 2026.pt_BR
dc.identifier.issn1471-2350-
dc.identifier.urihttps://ri.ufs.br/jspui/handle/riufs/25511-
dc.languageengpt_BR
dc.publisherBioMed Centralpt_BR
dc.relation.ispartofBMC Medical Geneticspt_BR
dc.subjectBruck Syndromeeng
dc.subjectOsteogenesis Imperfectaeng
dc.subjectBone marrow mesenchymal stromal celleng
dc.subjectOsteogenic differentiationeng
dc.subjectGene expressioneng
dc.titleOsteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndromept_BR
dc.typeArtigopt_BR
dc.identifier.licenseCreative Commons Atribuição 4.0 Internacional (CC BY 4.0)pt_BR
dc.description.resumoBackground: Osteogenesis Imperfecta (OI) (OMIM %259450) is a heterogeneous group of inherited disorders characterized by increased bone fragility, with clinical severity ranging from mild to lethal. The majority of OI cases are caused by mutations in COL1A1 or COL1A2. Bruck Syndrome (BS) is a further recessively-inherited OI-like phenotype in which bone fragility is associated with the unusual finding of pterygia and contractures of the large joints. Notably, several studies have failed to show any abnormalities in the biosynthesis of collagen 1 in BS patientes. Evidence was obtained for a specific defect of the procollagen telopeptide lysine hydroxylation in BS, whereas mutations in the gene PLOD2 have been identified. Recently, several studies described FKBP10 mutations in OI-like and BS patients, suggesting that FKBP10 is a bonafide BS locus. Methods: We analyzed the coding region and intron/exon boundaries of COL1A1, COL1A2, PLOD2 and FKBP10 genes by sequence analysis using an ABI PRISM 3130 automated sequencer and Big Dye Terminator Sequencing protocol. Mononuclear cells obtained from the bone marrow of BS, OI patients and healthy donors were cultured and osteogenic differentiation was induced. The gene expression of osteoblast specific markers were also evaluated during the osteoblastic differentiation of mesenchymal stem cell (MSC) by qRT-PCR using an ABI7500 Sequence Detection System. Results: No mutations in COL1A1, COL1A2 or PLOD2 were found in BS patient. We found a homozygous 1-base-pair duplication (c.831dupC) that is predicted to produce a translational frameshift mutation and a premature protein truncation 17 aminoacids downstream (p.Gly278ArgfsX95). The gene expression of osteoblast specific markers BGLAP, COL1A1, MSX2, SPARC and VDR was evaluated by Real Time RT-PCR during differentiation into osteoblasts and results showed similar patterns of osteoblast markers expression in BS and healthy controls. On the other hand, when compared with OI patients, the expression pattern of these genes was found to be different. Conclusions: Our work suggests that the gene expression profiles observed during mesenchymal stromal cell differentiation into osteoblast are distinct in BS patients as compared to OI patients. The present study shows for the first time that genes involved in osteogenesis are differentially expressed in BS and OI patients.pt_BR
dc.description.localLondonpt_BR
dc.identifier.doihttps://doi.org/10.1186/s12881-016-0301-7-
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