Glutamine Repeat Variants in Human RUNX2 Associated with Decreased Femoral Neck BMD, Broadband Ultrasound Attenuation and Target Gene Transactivation

RUNX2 is an essential transcription factor required for skeletal development and cartilage formation. Haploinsufficiency of RUNX2 leads to cleidocranial displaysia (CCD) a skeletal disorder characterised by gross dysgenesis of bones particularly those derived from intramembranous bone formation. A n...

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Detalles Bibliográficos
Autores principales: Morrison, Nigel A., Stephens, Alexandre A., Osato, Motomi, Polly, Patsie, Tan, Timothy C., Yamashita, Namiko, Doecke, James D., Pasco, Julie, Fozzard, Nicolette, Jones, Graeme, Ralston, Stuart H., Sambrook, Philip N., Prince, Richard L., Nicholson, Geoff C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3418257/
https://www.ncbi.nlm.nih.gov/pubmed/22912713
http://dx.doi.org/10.1371/journal.pone.0042617

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