Glutamine repeat variants in human RUNX2 associated with decreased femoral neck BMD, broadband ultrasound attenuation and target gene transactivation.

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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Bibliographic Details
Main Authors: Nigel A Morrison, Alexandre A Stephens, Motomi Osato, Patsie Polly, Timothy C Tan, Namiko Yamashita, James D Doecke, Julie Pasco, Nicolette Fozzard, Graeme Jones, Stuart H Ralston, Philip N Sambrook, Richard L Prince, Geoff C Nicholson
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3418257?pdf=render

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http://europepmc.org/articles/PMC3418257?pdf=render

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