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CpG methylation regulates allelic expression of GDF5 by modulating binding of SP1 and SP3 repressor proteins to the osteoarthritis susceptibility SNP rs143383

GDF5 encodes an extracellular signalling molecule that is essential for normal skeletal development. The rs144383 C to T SNP located in the 5ʹUTR of this gene is functional and has a pleiotropic effect on the musculoskeletal system, being a risk factor for knee-osteoarthritis (OA), congenital hip dy...

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Detalles Bibliográficos
Autores principales: Reynard, Louise N., Bui, Catherine, Syddall, Catherine M., Loughlin, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099533/
https://www.ncbi.nlm.nih.gov/pubmed/24861163
http://dx.doi.org/10.1007/s00439-014-1447-z