Browsing by Author "Parreira, Bruna"
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- Corrigendum: Evidence for a genetic contribution to the ossification of spinal ligaments in ossification of posterior longitudinal ligament and diffuse idiopathic skeletal hyperostosis: a narrative reviewPublication . Couto, Ana Rita; Parreira, Bruna; Power, Deborah Mary; Pinheiro, Luís; Dias, João Madruga; Novofastovski, Irina; Eshed, Iris; Sarzi-Puttini, Piercarlo; Pappone, Nicola; Atzeni, Fabiola; Verlaan, Jorrit-Jan; Kuperus, Jonneke; Bieber, Amir; Ambrosino, Pasquale; Kiefer, David; Khan, Muhammad Asim; Mader, Reuven; Baraliakos, Xenofon; Bruges-Armas, Jácome
- Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative reviewPublication . Couto, Ana Rita; Parreira, Bruna; Power, Deborah; Pinheiro, Luís; Madruga Dias, João; Novofastovski, Irina; Eshed, Iris; Sarzi-Puttini, Piercarlo; Pappone, Nicola; Atzeni, Fabiola; Verlaan, Jorrit-Jan; Kuperus, Jonneke; Bieber, Amir; Ambrosino, Pasquale; Kiefer, David; Khan, Muhammad Asim; Mader, Reuven; Baraliakos, Xenofon; Bruges-Armas, JácomeDiffuse Idiopathic Skeletal Hyperostosis (DISH) and Ossification of the Posterior Longitudinal Ligament (OPLL) are common disorders characterized by the ossification of spinal ligaments. The cause for this ossification is currently unknown but a genetic contribution has been hypothesized. Over the last decade, many studies on the genetics of ectopic calcification disorders have been performed, mainly on OPLL. Most of these studies were based on linkage analysis and case control association studies. Animal models have provided some clues but so far, the involvement of the identified genes has not been confirmed in human cases. In the last few years, many common variants in several genes have been associated with OPLL. However, these associations have not been at definitive levels of significance and evidence of functional significance is generally modest. The current evidence suggests a multifactorial aetiopathogenesis for DISH and OPLL with a subset of cases showing a stronger genetic component.
- Persistence of the ABCC6 genes and the emergence of the bony skeleton in vertebratesPublication . Parreira, Bruna; Cardoso, João; Costa, Rita; Couto, Ana Rita; Bruges-Armas, Jacome; Power, Deborah M.The ATP-binding cassette transporter 6 (ABCC6) gene encodes a cellular transmembrane protein transporter (MRP6) that is involved in the regulation of tissue calcification in mammals. Mutations in ABCC6 are associated with human ectopic calcification disorders. To gain insight into its evolution and involvement in tissue calcification we conducted a comparative analysis of the ABCC6 gene and the related gene ABCC1 from invertebrates to vertebrates where a bony endoskeleton first evolved. Taking into consideration the role of ABCC6 in ectopic calcification of human skin we analysed the involvement of both genes in the regeneration of scales, mineralized structures that develop in fish skin. The ABCC6 gene was only found in bony vertebrate genomes and was absent from Elasmobranchs, Agnatha and from invertebrates. In teleost fish the abcc6 gene duplicated but the two genes persisted only in some teleost genomes. Six disease causing amino acid mutations in human MRP6 are a normal feature of abcc6 in fish, suggesting they do not have a deleterious effect on the protein. After scale removal the abcc6 (5 and 10 days) and abcc1 (10 days) gene expression was up-regulated relative to the intact control skin and this coincided with a time of intense scale mineralization.